MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: DNA Repair-Deficiency Disorders (D049914)
Parent Node: Genetic Diseases, Inborn (D030342)
Parent Node: Immunologic Deficiency Syndromes (D007153)
Parent Node: Neurocutaneous Syndromes (D020752)
Parent Node: Spinocerebellar Ataxias (D020754)
Parent Node: Telangiectasis (D013684)
..Starting node ..Ataxia Telangiectasia (D001260)
Child Nodes:
........Ataxia Telangiectasia Like Disorder (C565779)
........Ataxia-Telangiectasia Variant (C566865)
........Ataxia-Telangiectasia Variant V2 (C565380)
........Ataxia-Telangiectasia with Generalized Skin Pigmentation and Early Death (C565930)
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..CREST Syndrome (D017675)
..CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL (OMIM:614564)
..Cutis marmorata telangiectatica congenita (C536226)
..Epilepsy telangiectasia (C535497)
..Frenkel Russe syndrome (C535638)
..Glomerulonephritis sparse hair telangiectases (C536825)
..Hypotrichosis-Lymphedema-Telangiectasia Syndrome (C564327)
..Megalencephaly cutis marmorata telangiectatica congenita (C536142)
..Pulmonary Arterial Hypertension, Hereditary Hemorrhagic Telangiectasia-Related (C563358)
..Retinal Telangiectasis (D058456) 1
..REYNOLDS SYNDROME (OMIM:613471)
..Telangiectasia, Generalized Essential (C562998)
..Telangiectasia, Hereditary Benign (C562908)
..Telangiectasia, Hereditary Hemorrhagic (D013683) 4
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1042

Name:

Ataxia Telangiectasia

Definition:

An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive CEREBELLAR ATAXIA; TELANGIECTASIS of CONJUNCTIVA and SKIN; DYSARTHRIA; B- and T-cell immunodeficiency, and RADIOSENSITIVITY to IONIZING RADIATION. Affected individuals are prone to recurrent sinobronchopulmonary infections, lymphoreticular neoplasms, and other malignancies. Serum ALPHA-FETOPROTEINS are usually elevated. (Menkes, Textbook of Child Neurology, 5th ed, p688) The gene for this disorder (ATM) encodes a cell cycle checkpoint protein kinase and has been mapped to chromosome 11 (11q22-q23).

Alternative IDs:

DO:DOID:12704|OMIM:208900

ParentIDs:

TreeNumbers:

C10.228.140.252.190.530.060 |C10.562.100 |C10.597.350.090.500.530.060 |C14.907.823.213 |C16.320.080 |C18.452.284.060 |C20.673.290

Synonyms:

Slim Mappings:

Cardiovascular disease|Genetic disease (inborn)|Immune system disease|Metabolic disease|Nervous system disease

Reference:

MedGen: D001260
MeSH: D001260
OMIM: 208900;
MSeqDR :
Genes: ATM;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0008669	Abnormal spermatogenesis
3	HP:0001595	Abnormality of the hair
4	HP:0001251	Ataxia
5	HP:0002110	Bronchiectasis
6	HP:0000957	Cafe-au-lait spot
7	HP:0001266	Choreoathetosis
8	HP:0000524	Conjunctival telangiectasia
9	HP:0005407	Decreased proportion of CD4-positive T cells
10	HP:0005357	Defective B cell differentiation
11	HP:0000823	Delayed puberty NAMDC: Prolonged pubertal growth spurt
12	HP:0000819	Diabetes mellitus NAMDC: Diabetes mellitus
13	HP:0001260	Dysarthria NAMDC: Dysarthria
14	HP:0001332	Dystonia NAMDC: Dystonia
15	HP:0006254	Elevated alpha-fetoprotein
16	HP:0000134	Female hypogonadism
17	HP:0000833	Glucose intolerance
18	HP:0012189	Hodgkin lymphoma
19	HP:0000778	Hypoplasia of the thymus
20	HP:0002720	IgA deficiency
21	HP:0008348	Immunoglobulin IgG2 deficiency
22	HP:0001909	Leukemia
23	HP:0002665	Lymphoma
24	HP:0001336	Myoclonus NAMDC: Myoclonus
25	HP:0012539	Non-Hodgkin lymphoma
26	HP:0000639	Nystagmus
27	HP:0002837	Recurrent bronchitis
28	HP:0001315	Reduced tendon reflexes
29	HP:0001250	Seizures NAMDC: Seizures
30	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
31	HP:0000246	Sinusitis
32	HP:0000486	Strabismus
33	HP:0001337	Tremor

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000011.9:g.(?_107992334)_(108464263_?)dup	-1	ACAT1;ATM;C11orf65;EXPH5;NPAT;POGLUT3	Uncertain significance	-1	RCV001872607\|RCV003120730;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008760,MedGen:C1536500,OMIM:203750, Orphanet:134	11	107992334	108464263	-1	-
NC_000011.9:g.(?_94153285)_(111965700_?)del	472	ATM	Pathogenic	-1	RCV001389105;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	94153285	111965700	-1	-
NC_000011.10:g.(?_108121587)_(108365528_?)dup	472	ATM	Uncertain significance	-1	RCV001031253;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	107992314	108236255	-1	-
NC_000011.10:g.(?_108221832)_(108370099_?)del	472	ATM	Pathogenic	-1	RCV001032031;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108092559	108240826	-1	-
NC_000011.10:g.108222768C>T	472	ATM	Likely benign	1056339095	RCV000988634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093495	108093495	11:g.108093495C>T	-
NM_000051.3(ATM):c.-398G>A	472	ATM	Uncertain significance	996438197	RCV001106510;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093546	108093546	11:g.108093546G>A	-
NC_000011.10:g.(?_108222832)_(108369099_?)del	472	ATM	Pathogenic	-1	RCV000474148;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093559	108239826		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.-371G>C	472	ATM	Uncertain significance	890835455	RCV000499990\|RCV002476003;	N	MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093573	108093573	NC_000011.9:g.108093573G>C	ClinGen:CA228364146	CN169374 not specified;
NM_000051.3(ATM):c.-328A>T	472	ATM	Likely benign	4987880	RCV000407810\|RCV001567064;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108093616	108093616	11:g.108093616A>T	ClinGen:CA10633296	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.-274G>A	472	ATM	Uncertain significance	886047606	RCV000311926;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093670	108093670	11:g.108093670G>A	ClinGen:CA10633297	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.-235delC	472	ATM	Uncertain significance	886047607	RCV000350414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093708	108093708	11:g.108093708_108093708del	ClinGen:CA10636987	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.-229C>G	472	ATM	Uncertain significance	886047608	RCV000407812;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093715	108093715	11:g.108093715C>G	ClinGen:CA10637510	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.-222T>A	472	ATM	Uncertain significance	557953523	RCV000301260;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093722	108093722	11:g.108093722T>A	ClinGen:CA10637512	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.-218T>A	472	ATM	Uncertain significance	886047609	RCV000353800\|RCV001820885;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108093726	108093726	11:g.108093726T>A	ClinGen:CA10637513	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.-186G>A	472	ATM	Uncertain significance	879725890	RCV000261166;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093758	108093758	11:g.108093758G>A	ClinGen:CA10636993	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108223043)_(108249112_?)del	472	ATM	Pathogenic	-1	RCV001032750;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093770	108119839	-1	-
NM_000051.3(ATM):c.-174A>C	472	ATM	Uncertain significance	928618464	RCV001108696;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093770	108093770	11:g.108093770A>C	-
NC_000011.9:g.(?_108093770)_(108100060_?)del	472	ATM	Pathogenic	-1	RCV001384212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093770	108100060	-1	-
NC_000011.9:g.(?_108093770)_(108114855_?)del	472	ATM	Pathogenic	-1	RCV001384213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093770	108114855	-1	-
NC_000011.9:g.(?_108093770)_(108098625_?)del	472	ATM	Pathogenic	-1	RCV003119158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093770	108098625		-
NC_000011.9:g.(?_108093770)_(108164214_?)del	472	ATM	Pathogenic	-1	RCV003119159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093770	108164214		-
NM_000051.4(ATM):c.-111G>A	472	ATM	Benign	189037	RCV000304644\|RCV000860560;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108093833	108093833	11:g.108093833G>A	ClinGen:CA10633298	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.-111_-109delinsAC	472	ATM	Uncertain significance	1555051087	RCV000669427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093833	108093835	11:g.108093834_108093835del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.-94G>A	472	ATM	Uncertain significance	766115348	RCV000361786\|RCV001820886;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108093850	108093850	11:g.108093850G>A	ClinGen:CA10633303	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.-74G>A	472	ATM	Uncertain significance	3205808	RCV000264803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108093870	108093870	NC_000011.9:g.108093870G>A	ClinGen:CA10633304	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.-31+595G>A	472	ATM	Uncertain significance	1555051574	RCV000665159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108094508	108094508	11:g.108094508G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108098171)_(108124564_?)del	472	ATM	Pathogenic	-1	RCV000556755;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098171	108124564		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.-15C>T	472	ATM	Conflicting interpretations of pathogenicity	1204830852	RCV000582426\|RCV000988635;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098337	108098337	11:g.108098337C>T	ClinGen:CA658683694	C0027672 Hereditary cancer-predisposing syndrome;
NC_000011.10:g.(?_108227615)_(108365518_?)del	472	ATM	Pathogenic	-1	RCV000708449;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098342	108236245		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108098342)_(108117864_?)dup	472	ATM	Uncertain significance	-1	RCV000807917;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098342	108117864		-
NC_000011.10:g.(?_108227615)_(108229333_?)del	472	ATM	Pathogenic	-1	RCV000803280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098342	108100060		-
NC_000011.9:g.(?_108098342)_(108236245_?)dup	472	ATM	Uncertain significance	-1	RCV000804618;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098342	108236245		-
NC_000011.10:g.(?_108227615)_(108259085_?)dup	472	ATM	Uncertain significance	-1	RCV001032265;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098342	108129812	-1	-
NC_000011.9:g.(?_108098342)_(108158452_?)dup	472	ATM	Uncertain significance	-1	RCV001327569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098342	108158452	-1	-
NC_000011.9:g.(?_108098342)_(108098625_?)del	472	ATM	Pathogenic	-1	RCV001386625;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098342	108098625	-1	-
NC_000011.9:g.(?_108098346)_(108138075_?)del	472	ATM	Pathogenic	-1	RCV000536639;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098346	108138075		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108098346)_(108151901_?)dup	472	ATM	Uncertain significance	-1	RCV000549080;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098346	108151901		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108227619)_(108227894_?)del	472	ATM	Pathogenic	-1	RCV000628322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098346	108098621		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108098346)_(108236241_?)dup	472	ATM	Uncertain significance	-1	RCV000628321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098346	108236241		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108098346)_(108236241_?)del	472	ATM	Pathogenic	-1	RCV001389104;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098346	108236241	-1	-
NM_000051.3(ATM):c.(?_-1)_4109+?dup	472	ATM	Uncertain significance	-1	RCV000206521;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098351	108158442		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1A>G (p.Met1Val)	472	ATM	Pathogenic/Likely pathogenic	730881359	RCV000258119\|RCV001093019\|RCV001175687\|RCV001355020\|RCV003137690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0015278,MedGen:C2931038, Orphanet:1333\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:2275	11	108098352	108098352	NC_000011.9:g.108098352A>G	ClinGen:CA298204	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1A>C (p.Met1Leu)	472	ATM	Pathogenic/Likely pathogenic	730881359	RCV000166918\|RCV000576648;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108098352	11:g.108098352A>C	ClinGen:CA197028	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108227625)_(108245036_?)del	472	ATM	Pathogenic	-1	RCV001032813;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108115763	-1	-
NC_000011.10:g.(?_108227625)_(108365508_?)del	472	ATM	Pathogenic	-1	RCV001032134;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108236235	-1	-
NC_000011.9:g.(?_108098352)_(108098625_?)dup	472	ATM	Uncertain significance	-1	RCV001343101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108098625	-1	-
NC_000011.9:g.(?_108098352)_(108106571_?)dup	472	ATM	Uncertain significance	-1	RCV001372074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108106571	-1	-
NC_000011.9:g.(?_108098352)_(108100060_?)del	472	ATM	Pathogenic	-1	RCV001386626;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108100060	-1	-
NC_000011.9:g.(?_108098352)_(108117864_?)dup	472	ATM	Uncertain significance	-1	RCV002008416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108117864	-1	-
NC_000011.9:g.(?_108098352)_(108128343_?)del	472	ATM	Pathogenic	-1	RCV001887582;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108128343	-1	-
NC_000011.9:g.(?_108098352)_(108124786_?)del	472	ATM	Pathogenic	-1	RCV001936123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108124786	-1	-
NC_000011.9:g.(?_108098352)_(108164214_?)del	472	ATM	Pathogenic	-1	RCV002039678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108164214	-1	-
NC_000011.9:g.(?_108098352)_(108216655_?)dup	472	ATM	Uncertain significance	-1	RCV001973077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108216655	-1	-
NC_000011.9:g.(?_108098352)_(108129822_?)del	472	ATM	Pathogenic	-1	RCV003119161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108129822		-
NC_000011.9:g.(?_108098352)_(108098615_?)del	472	ATM	Pathogenic	-1	RCV003119178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108098615		-
NC_000011.9:g.(?_108098352)_(108236235_?)dup	472	ATM	Uncertain significance	-1	RCV003119181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098352	108236235		-
NM_000051.4(ATM):c.2T>C (p.Met1Thr)	472	ATM	Pathogenic	786203606	RCV000166992\|RCV000168377\|RCV000519260\|RCV002221505;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098353	108098353	11:g.108098353T>C	ClinGen:CA197209	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3G>A (p.Met1Ile)	472	ATM	Pathogenic/Likely pathogenic	781404312	RCV000169261\|RCV000223021\|RCV000215466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108098354	108098354	NC_000011.9:g.108098354G>A	ClinGen:CA274099	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4A>G (p.Ser2Gly)	472	ATM	Uncertain significance	1591445677	RCV000793955\|RCV003166110;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098355	108098355	11:g.108098355A>G	-
NM_000051.4(ATM):c.5G>A (p.Ser2Asn)	472	ATM	Uncertain significance	730881360	RCV000579727\|RCV000821860\|RCV001569149;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108098356	108098356	NC_000011.9:g.108098356G>A	ClinGen:CA382518922	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6T>A (p.Ser2Arg)	472	ATM	Uncertain significance	748158168	RCV001181924\|RCV001308050;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098357	108098357	11:g.108098357T>A	-
NM_000051.4(ATM):c.7C>T (p.Leu3=)	472	ATM	Likely benign	-1	RCV002835124;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098358	108098358		-
NM_000051.4(ATM):c.8del (p.Leu3fs)	472	ATM	Pathogenic/Likely pathogenic	879254052	RCV000235462\|RCV000554193\|RCV001018623\|RCV003469184;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098359	108098359	NC_000011.9:g.108098359del	ClinGen:CA10584313	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8T>C (p.Leu3Pro)	472	ATM	Uncertain significance	1555053861	RCV000538660\|RCV001018626;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098359	108098359	11:g.108098359T>C	ClinGen:CA382518931	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9A>G (p.Leu3=)	472	ATM	Likely benign	1555053869	RCV000582602\|RCV002061700;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098360	108098360	NC_000011.9:g.108098360A>G	ClinGen:CA476667935	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.10G>A (p.Val4Ile)	472	ATM	Uncertain significance	1438588853	RCV000627990\|RCV001017298;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098361	108098361	NC_000011.9:g.108098361G>A	ClinGen:CA382518937	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.11T>C (p.Val4Ala)	472	ATM	Conflicting interpretations of pathogenicity	1555053873	RCV000560752\|RCV001185975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098362	108098362	11:g.108098362T>C	ClinGen:CA382518955	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.15dup (p.Asn6Ter)	472	ATM	Pathogenic/Likely pathogenic	876660842	RCV000213282\|RCV000485951\|RCV001047848\|RCV003469099;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098364	108098365	11:g.108098364_108098365insT	ClinGen:CA10578937	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.13C>G (p.Leu5Val)	472	ATM	Uncertain significance	2078805774	RCV001368983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098364	108098364	108098364	-
NM_000051.4(ATM):c.13C>T (p.Leu5Phe)	472	ATM	Uncertain significance	-1	RCV003017600;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098364	108098364	NC_000011.9:g.108098364C>T	-
NM_000051.4(ATM):c.15T>G (p.Leu5=)	472	ATM	Likely benign	1357506783	RCV001396770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098366	108098366	11:g.108098366T>G	-
NM_000051.4(ATM):c.17dup (p.Asn6fs)	472	ATM	Pathogenic	2135004405	RCV002035437;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098366	108098367	108098366	-
NM_000051.4(ATM):c.17_20del (p.Asn6fs)	472	ATM	Pathogenic	-1	RCV003011807;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098367	108098370	NC_000011.9:g.108098368_108098371del	-
NM_000051.4(ATM):c.19G>C (p.Asp7His)	472	ATM	Uncertain significance	2078806188	RCV001313217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098370	108098370	108098370	-
NM_000051.4(ATM):c.22C>T (p.Leu8=)	472	ATM	Likely benign	2135004594	RCV002180409\|RCV002427564;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098373	108098373	108098373	-
NM_000051.4(ATM):c.24_26del (p.Leu9del)	472	ATM	Uncertain significance	-1	RCV002872658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098373	108098375	NC_000011.9:g.108098375_108098377del	-
NM_000051.4(ATM):c.23T>G (p.Leu8Arg)	472	ATM	Uncertain significance	1555053885	RCV000575540\|RCV002529020;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098374	108098374	NC_000011.9:g.108098374T>G	ClinGen:CA382519032	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.23T>C (p.Leu8Pro)	472	ATM	Uncertain significance	1555053885	RCV000794171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098374	108098374	11:g.108098374T>C	-
NM_000051.4(ATM):c.24G>A (p.Leu8=)	472	ATM	Likely benign	1555053888	RCV000567540\|RCV001460735;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098375	108098375	NC_000011.9:g.108098375G>A	ClinGen:CA476667955	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.25C>T (p.Leu9Phe)	472	ATM	Uncertain significance	2078806539	RCV001296454;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098376	108098376	108098376	-
NM_000051.4(ATM):c.29T>C (p.Ile10Thr)	472	ATM	Uncertain significance	2135004898	RCV002033267\|RCV003299035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098380	108098380	108098380	-
NM_000051.4(ATM):c.30C>A (p.Ile10=)	472	ATM	Likely benign	1591445856	RCV000980178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098381	108098381	11:g.108098381C>A	-
NM_000051.4(ATM):c.30C>T (p.Ile10=)	472	ATM	Likely benign	1591445856	RCV002213454;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098381	108098381	108098381	-
NM_000051.4(ATM):c.32G>C (p.Cys11Ser)	472	ATM	Uncertain significance	-1	RCV002454685\|RCV002464650\|RCV003099380;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098383	108098383	108098383	-
NM_000051.4(ATM):c.34T>C (p.Cys12Arg)	472	ATM	Uncertain significance	1060501597	RCV000476227;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098385	108098385	NC_000011.9:g.108098385T>C	ClinGen:CA16613042	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.36C>T (p.Cys12=)	472	ATM	Likely benign	2135005147	RCV001461089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098387	108098387	108098387	-
NM_000051.4(ATM):c.36C>A (p.Cys12Ter)	472	ATM	Pathogenic	-1	RCV002715095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098387	108098387	NC_000011.9:g.108098387C>A	-
NM_000051.4(ATM):c.37C>T (p.Arg13Cys)	472	ATM	Uncertain significance	141586345	RCV000165494\|RCV000230359\|RCV000589373\|RCV001260254\|RCV003462175;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098388	108098388	11:g.108098388C>T	ClinGen:CA193543	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.37C>G (p.Arg13Gly)	472	ATM	Uncertain significance	141586345	RCV001021180\|RCV001360912;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098388	108098388	11:g.108098388C>G	-
NM_000051.4(ATM):c.37C>A (p.Arg13Ser)	472	ATM	Uncertain significance	141586345	RCV001338152\|RCV003169588;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098388	108098388	108098388	-
NM_000051.4(ATM):c.38G>A (p.Arg13His)	472	ATM	Uncertain significance	778201041	RCV000168074\|RCV000222429\|RCV000254698\|RCV003468823;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098389	108098389	NC_000011.9:g.108098389G>A	ClinGen:CA334221	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.40C>T (p.Gln14Ter)	472	ATM	Pathogenic	-1	RCV002815780;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098391	108098391	NC_000011.9:g.108098391C>T	-
NM_000051.4(ATM):c.41A>G (p.Gln14Arg)	472	ATM	Uncertain significance	749776879	RCV000688270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098392	108098392	11:g.108098392A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.42A>G (p.Gln14=)	472	ATM	Likely benign	771378101	RCV000162672\|RCV000440330\|RCV000468641\|RCV001721025;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108098393	108098393	11:g.108098393A>G	ClinGen:CA186703	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.43del (p.Gln14_Leu15insTer)	472	ATM	Pathogenic	771887195	RCV000223089\|RCV000481023\|RCV000628079\|RCV003469059;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098394	108098394	11:g.108098394_108098394del	ClinGen:CA6264499	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.44T>G (p.Leu15Arg)	472	ATM	Uncertain significance	1555053927	RCV000533394;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098395	108098395	NC_000011.9:g.108098395T>G	ClinGen:CA382519159	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.44T>A (p.Leu15Gln)	472	ATM	Uncertain significance	1555053927	RCV000628060;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098395	108098395	NC_000011.9:g.108098395T>A	ClinGen:CA382519152	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.48A>G (p.Glu16=)	472	ATM	Likely benign	774768437	RCV000457632\|RCV000565561\|RCV002465656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108098399	108098399	NC_000011.9:g.108098399A>G	ClinGen:CA6264500	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.49C>A (p.His17Asn)	472	ATM	Uncertain significance	876658161	RCV000219832\|RCV000536856;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098400	108098400	11:g.108098400C>A	ClinGen:CA6264501	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.52_54dup (p.Asp18dup)	472	ATM	Uncertain significance	2135005981	RCV002031741;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098400	108098401	108098400	-
NM_000051.4(ATM):c.50_51del (p.His17fs)	472	ATM	Pathogenic	775561876	RCV000820223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098401	108098402	11:g.108098401_108098402del	-
NM_000051.4(ATM):c.50A>G (p.His17Arg)	472	ATM	Uncertain significance	1242444722	RCV001181264\|RCV001278349;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098401	108098401	11:g.108098401A>G	-
NM_000051.4(ATM):c.51T>C (p.His17=)	472	ATM	Likely benign	1591446045	RCV001023715\|RCV002067668;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098402	108098402	11:g.108098402T>C	-
NM_000051.4(ATM):c.52G>A (p.Asp18Asn)	472	ATM	Uncertain significance	2078809121	RCV001297300;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098403	108098403	108098403	-
NM_000051.4(ATM):c.52G>C (p.Asp18His)	472	ATM	Uncertain significance	-1	RCV003085967;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098403	108098403	NC_000011.9:g.108098403G>C	-
NM_000051.4(ATM):c.54T>C (p.Asp18=)	472	ATM	Likely benign	786203926	RCV000167443\|RCV001466295;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098405	108098405	11:g.108098405T>C	ClinGen:CA198317	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.55A>G (p.Arg19Gly)	472	ATM	Uncertain significance	1565344118	RCV000709162\|RCV002343582;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098406	108098406	11:g.108098406A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.56G>C (p.Arg19Thr)	472	ATM	Uncertain significance	1064793029	RCV000774321\|RCV001210198;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098407	108098407	NC_000011.9:g.108098407G>C	-
NM_000051.4(ATM):c.58G>A (p.Ala20Thr)	472	ATM	Uncertain significance	1555053946	RCV000563287\|RCV001055893;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098409	108098409	11:g.108098409G>A	ClinGen:CA382519297	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.59C>G (p.Ala20Gly)	472	ATM	Conflicting interpretations of pathogenicity	2078809726	RCV001071690\|RCV002355103;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098410	108098410	11:g.108098410C>G	-
NM_000051.4(ATM):c.60T>C (p.Ala20=)	472	ATM	Likely benign	-1	RCV002360173\|RCV003098138;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098411	108098411		-
NM_000051.4(ATM):c.61A>G (p.Thr21Ala)	472	ATM	Uncertain significance	1565344141	RCV000710674\|RCV001273648\|RCV001692261;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098412	108098412	NC_000011.9:g.108098412A>G	-
NM_000051.4(ATM):c.62C>T (p.Thr21Ile)	472	ATM	Uncertain significance	1442769051	RCV001959355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098413	108098413	108098413	-
NM_000051.4(ATM):c.63A>G (p.Thr21=)	472	ATM	Likely benign	199853729	RCV001025222\|RCV002060707;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098414	108098414	NC_000011.9:g.108098414A>G	ClinGen:CA228368155	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.64G>A (p.Glu22Lys)	472	ATM	Uncertain significance	-1	RCV002832919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098415	108098415	NC_000011.9:g.108098415G>A	-
NM_000051.4(ATM):c.66A>G (p.Glu22=)	472	ATM	Likely benign	1185359350	RCV000575501\|RCV000628207\|RCV002491127;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098417	108098417	NC_000011.9:g.108098417A>G	ClinGen:CA476667982	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.67C>T (p.Arg23Ter)	472	ATM	Pathogenic	746235533	RCV000215307\|RCV000579150\|RCV000627840\|RCV001310099;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098418	108098418	11:g.108098418C>T	ClinGen:CA6264503	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.67C>G (p.Arg23Gly)	472	ATM	Uncertain significance	746235533	RCV000579793\|RCV001508321\|RCV001853857;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098418	108098418	NC_000011.9:g.108098418C>G	ClinGen:CA382519359	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.67C>A (p.Arg23=)	472	ATM	Likely benign	746235533	RCV001494072\|RCV002368509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098418	108098418	108098418	-
NM_000051.4(ATM):c.68G>A (p.Arg23Gln)	472	ATM	Uncertain significance	587779858	RCV000115234\|RCV000230719\|RCV001704014\|RCV001798323\|RCV002247498\|RCV003467030;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN221562\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098419	108098419	NC_000011.9:g.108098419G>A	ClinGen:CA286947,UniProtKB:Q13315#VAR_041545	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.68G>C (p.Arg23Pro)	472	ATM	Uncertain significance	587779858	RCV001061028\|RCV001177188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098419	108098419	11:g.108098419G>C	-
NM_000051.4(ATM):c.69A>G (p.Arg23=)	472	ATM	Conflicting interpretations of pathogenicity	876659304	RCV000221002\|RCV000484040\|RCV001086703;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098420	108098420	11:g.108098420A>G	ClinGen:CA10578940	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.71A>T (p.Lys24Met)	472	ATM	Uncertain significance	1060501710	RCV000466203\|RCV000580677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098422	108098422	NC_000011.9:g.108098422A>T	ClinGen:CA16613291	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.72+1del	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002370859\|RCV003098502;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098423	108098423	108098422	-
NM_000051.4(ATM):c.72G>C (p.Lys24Asn)	472	ATM	Pathogenic	-1	RCV002819736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098423	108098423	NC_000011.9:g.108098423G>C	-
NM_000051.4(ATM):c.72+1G>A	472	ATM	Pathogenic/Likely pathogenic	786204088	RCV000167987\|RCV000777649\|RCV001564314;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108098424	108098424	NC_000011.9:g.108098424G>A	ClinGen:CA334106	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.72+1G>T	472	ATM	Pathogenic	786204088	RCV001999908;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098424	108098424	108098424	-
NM_000051.4(ATM):c.72+2del	472	ATM	Likely pathogenic	1555053972	RCV000536866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098425	108098425	11:g.108098425_108098425del	ClinGen:CA658656134	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.72+2T>C	472	ATM	Pathogenic/Likely pathogenic	1591446206	RCV000811409\|RCV001182079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098425	108098425	11:g.108098425T>C	-
NM_000051.4(ATM):c.72+3A>C	472	ATM	Uncertain significance	2135007098	RCV001924190\|RCV002370540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098426	108098426	108098426	-
NM_000051.4(ATM):c.72+4G>A	472	ATM	Uncertain significance	1458884973	RCV000793787;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098427	108098427	11:g.108098427G>A	-
NM_000051.4(ATM):c.72+7A>G	472	ATM	Likely benign	-1	RCV002775867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098430	108098430	NC_000011.9:g.108098430A>G	-
NM_000051.4(ATM):c.72+8A>G	472	ATM	Likely benign	2135007393	RCV001482543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098431	108098431	108098431	-
NM_000051.4(ATM):c.72+12_72+15del	472	ATM	Likely benign	2135007520	RCV001438210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098432	108098435	108098431	-
NM_000051.4(ATM):c.72+9T>C	472	ATM	Likely benign	2135007450	RCV002148471;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098432	108098432	108098432	-
NM_000051.4(ATM):c.72+15A>C	472	ATM	Likely benign	-1	RCV003064005;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098438	108098438	NC_000011.9:g.108098438A>C	-
NM_000051.4(ATM):c.72+17A>G	472	ATM	Likely benign	2135007789	RCV002098644;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098440	108098440	108098440	-
NM_000051.4(ATM):c.72+19T>A	472	ATM	Likely benign	776457787	RCV002073686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098442	108098442	108098442	-
NM_000051.4(ATM):c.72+19T>C	472	ATM	Likely benign	-1	RCV002625080;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098442	108098442	NC_000011.9:g.108098442T>C	-
NM_000051.4(ATM):c.72+20C>G	472	ATM	Likely benign	1555053997	RCV000600804\|RCV002063020;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098443	108098443	11:g.108098443C>G	ClinGen:CA658797772	CN169374 not specified;
NM_000051.4(ATM):c.72+20C>T	472	ATM	Likely benign	1555053997	RCV002079239;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098443	108098443	108098443	-
NM_000051.4(ATM):c.72+20C>A	472	ATM	Likely benign	1555053997	RCV002133962;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098443	108098443	108098443	-
NM_000051.4(ATM):c.73-18T>G	472	ATM	Likely benign	-1	RCV002942104;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098485	108098485	NC_000011.9:g.108098485T>G	-
NM_000051.4(ATM):c.73-15C>A	472	ATM	Likely benign	1216989217	RCV000581251\|RCV000610810\|RCV002061683;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098488	108098488	11:g.108098488C>A	ClinGen:CA601693775	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.73-14C>G	472	ATM	Likely benign	766284348	RCV001189385\|RCV002069070;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098489	108098489	11:g.108098489C>G	-
NM_000051.4(ATM):c.73-14C>T	472	ATM	Likely benign	-1	RCV002634192;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098489	108098489	NC_000011.9:g.108098489C>T	-
NM_000051.4(ATM):c.73-12T>C	472	ATM	Likely benign	2078815559	RCV002174647;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098491	108098491	108098491	-
NM_000051.4(ATM):c.73-11T>A	472	ATM	Likely benign	2135009950	RCV002133297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098492	108098492	108098492	-
NM_000051.4(ATM):c.73-9T>A	472	ATM	Likely benign	1591446620	RCV002180403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098494	108098494	108098494	-
NM_000051.4(ATM):c.73-9T>C	472	ATM	Conflicting interpretations of pathogenicity	1591446620	RCV002152200\|RCV002258385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098494	108098494	108098494	-
NM_000051.4(ATM):c.73-4T>G	472	ATM	Likely benign	1565344387	RCV002167946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098499	108098499	108098499	-
NM_000051.4(ATM):c.73-3C>G	472	ATM	Pathogenic/Likely pathogenic	1555054039	RCV000565365\|RCV000807284\|RCV003441950;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108098500	108098500	11:g.108098500C>G	ClinGen:CA658656135	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.73-3C>T	472	ATM	Conflicting interpretations of pathogenicity	1555054039	RCV000568304\|RCV000627959\|RCV000779756;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108098500	108098500	NC_000011.9:g.108098500C>T	ClinGen:CA658656136	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.73-1G>A	472	ATM	Pathogenic/Likely pathogenic	1555054043	RCV000561977\|RCV001047640\|RCV003465197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098502	108098502	NC_000011.9:g.108098502G>A	ClinGen:CA382519448	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.73-1G>C	472	ATM	Pathogenic	-1	RCV002886239;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098502	108098502	NC_000011.9:g.108098502G>C	-
NM_000051.4(ATM):c.73A>G (p.Lys25Glu)	472	ATM	Uncertain significance	-1	RCV002994324\|RCV003308399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098503	108098503	NC_000011.9:g.108098503A>G	-
NM_000051.4(ATM):c.74A>G (p.Lys25Arg)	472	ATM	Uncertain significance	751310537	RCV001047586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098504	108098504	11:g.108098504A>G	-
NM_000051.4(ATM):c.75A>G (p.Lys25=)	472	ATM	Uncertain significance	1591446716	RCV000988636\|RCV002473160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108098505	108098505	11:g.108098505A>G	-
NM_000051.4(ATM):c.76G>C (p.Glu26Gln)	472	ATM	Conflicting interpretations of pathogenicity	730881361	RCV000159711\|RCV000215116\|RCV000465732\|RCV000656754\|RCV002288670;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098506	108098506	NC_000011.9:g.108098506G>C	ClinGen:CA298210	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.76_79del (p.Glu26fs)	472	ATM	Pathogenic	2078816952	RCV001054313;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098506	108098509	11:g.108098506_108098509del	-
NM_000051.4(ATM):c.77A>G (p.Glu26Gly)	472	ATM	Uncertain significance	1555054052	RCV000529438;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098507	108098507	NC_000011.9:g.108098507A>G	ClinGen:CA382519490	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.78A>T (p.Glu26Asp)	472	ATM	Uncertain significance	786202953	RCV000166031\|RCV000236303\|RCV000525440\|RCV002307424\|RCV003468769;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098508	108098508	11:g.108098508A>T	ClinGen:CA194814	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.78A>G (p.Glu26=)	472	ATM	Likely benign	786202953	RCV002077796;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098508	108098508	108098508	-
NM_000051.4(ATM):c.79G>A (p.Val27Ile)	472	ATM	Uncertain significance	754770960	RCV000165389\|RCV000235556\|RCV000467148\|RCV002465551;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108098509	108098509	11:g.108098509G>A	ClinGen:CA193258	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.79G>C (p.Val27Leu)	472	ATM	Uncertain significance	754770960	RCV000793435\|RCV003279064;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098509	108098509	11:g.108098509G>C	-
NM_000051.4(ATM):c.79G>T (p.Val27Phe)	472	ATM	Uncertain significance	754770960	RCV001027037\|RCV001832364\|RCV002298849;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108098509	108098509	11:g.108098509G>T	-
NM_000051.4(ATM):c.80T>A (p.Val27Asp)	472	ATM	Uncertain significance	2078817440	RCV001056041;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098510	108098510	11:g.108098510T>A	-
NM_000051.4(ATM):c.80T>C (p.Val27Ala)	472	ATM	Uncertain significance	2078817440	RCV001373933;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098510	108098510	108098510	-
NM_000051.4(ATM):c.81T>G (p.Val27=)	472	ATM	Likely benign	2135010830	RCV002178442;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098511	108098511	108098511	-
NM_000051.4(ATM):c.84G>A (p.Glu28=)	472	ATM	Likely benign	1591446775	RCV000945157\|RCV002445093;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098514	108098514	11:g.108098514G>A	-
NM_000051.4(ATM):c.86A>C (p.Lys29Thr)	472	ATM	Uncertain significance	147009251	RCV000236878\|RCV000694073\|RCV002374394;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098516	108098516	NC_000011.9:g.108098516A>C	ClinGen:CA6264514	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.86_89del (p.Lys29fs)	472	ATM	Pathogenic	-1	RCV003027129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098516	108098519	NC_000011.9:g.108098516_108098519del	-
NM_000051.4(ATM):c.87A>G (p.Lys29=)	472	ATM	Likely benign	1591446799	RCV001357231\|RCV001473364\|RCV003169493;	N	MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098517	108098517	11:g.108098517A>G	-
NM_000051.4(ATM):c.88T>A (p.Phe30Ile)	472	ATM	Uncertain significance	2078817952	RCV001037226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098518	108098518	11:g.108098518T>A	-
NM_000051.4(ATM):c.90del (p.Phe30fs)	472	ATM	Pathogenic	2135011143	RCV001385202;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098518	108098518	108098517	-
NM_000051.4(ATM):c.89T>G (p.Phe30Cys)	472	ATM	Uncertain significance	876658520	RCV000230004;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098519	108098519	NC_000011.9:g.108098519T>G	ClinGen:CA10582780	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.93G>C (p.Lys31Asn)	472	ATM	Uncertain significance	863224583	RCV000197073\|RCV000564628\|RCV001192366\|RCV003319332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108098523	108098523	NC_000011.9:g.108098523G>C	ClinGen:CA336966	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.94C>T (p.Arg32Cys)	472	ATM	Conflicting interpretations of pathogenicity	148061139	RCV000132385\|RCV000233534\|RCV000236602\|RCV001197402\|RCV001355326\|RCV002465534;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN16	11	108098524	108098524	11:g.108098524C>T	ClinGen:CA169733	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.94C>A (p.Arg32Ser)	472	ATM	Uncertain significance	148061139	RCV001993733\|RCV003170249;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098524	108098524	108098524	-
NM_000051.4(ATM):c.95G>A (p.Arg32His)	472	ATM	Conflicting interpretations of pathogenicity	368161489	RCV000459267\|RCV000562263\|RCV001721017\|RCV002288671;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098525	108098525	NC_000011.9:g.108098525G>A	ClinGen:CA298213	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.95G>T (p.Arg32Leu)	472	ATM	Uncertain significance	368161489	RCV000628022\|RCV002385964\|RCV003465372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098525	108098525	NC_000011.9:g.108098525G>T	ClinGen:CA6264515	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.96C>T (p.Arg32=)	472	ATM	Likely benign	1305090923	RCV000572424\|RCV002528094;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098526	108098526	NC_000011.9:g.108098526C>T	ClinGen:CA476667999	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.97C>T (p.Leu33=)	472	ATM	Likely benign	1057522542	RCV000424181\|RCV000775890\|RCV000928593\|RCV001721302;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108098527	108098527	11:g.108098527C>T	ClinGen:CA16605752	CN169374 not specified;
NM_000051.4(ATM):c.98T>C (p.Leu33Pro)	472	ATM	Uncertain significance	2078818941	RCV001344830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098528	108098528	108098528	-
NM_000051.4(ATM):c.99G>C (p.Leu33=)	472	ATM	Likely benign	-1	RCV002872563;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098529	108098529		-
NM_000051.4(ATM):c.100A>G (p.Ile34Val)	472	ATM	Uncertain significance	1555054094	RCV000563744\|RCV001227051;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098530	108098530	NC_000011.9:g.108098530A>G	ClinGen:CA382519701	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.102T>A (p.Ile34=)	472	ATM	Likely benign	2135011891	RCV002149398;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098532	108098532	108098532	-
NM_000051.4(ATM):c.103C>T (p.Arg35Ter)	472	ATM	Pathogenic/Likely pathogenic	55861249	RCV000003164\|RCV000130278\|RCV000236608\|RCV000515417\|RCV003466790;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108098533	108098533	11:g.108098533C>T	ClinGen:CA166087,OMIM:607585.0008	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.103C>A (p.Arg35=)	472	ATM	Benign/Likely benign	55861249	RCV000162607\|RCV000242698\|RCV000589960\|RCV001084288\|RCV003149989\|RCV003315979\|RCV002225474;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:000	11	108098533	108098533	11:g.108098533C>A	ClinGen:CA186547	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.104G>A (p.Arg35Gln)	472	ATM	Uncertain significance	876659324	RCV000216920\|RCV000460608\|RCV001770178\|RCV003469040;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098534	108098534	11:g.108098534G>A	ClinGen:CA10578942	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.105A>C (p.Arg35=)	472	ATM	Likely benign	1060504270	RCV000465295\|RCV001009766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098535	108098535	NC_000011.9:g.108098535A>C	ClinGen:CA16612954	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.105A>G (p.Arg35=)	472	ATM	Likely benign	-1	RCV002756634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098535	108098535		-
NM_000051.4(ATM):c.107A>G (p.Asp36Gly)	472	ATM	Uncertain significance	1488019755	RCV000690046\|RCV000774515;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098537	108098537	NC_000011.9:g.108098537A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.107A>C (p.Asp36Ala)	472	ATM	Uncertain significance	1488019755	RCV001361737;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098537	108098537	108098537	-
NM_000051.4(ATM):c.110C>G (p.Pro37Arg)	472	ATM	Uncertain significance	1591446947	RCV001371226\|RCV002432045;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098540	108098540	108098540	-
NM_000051.4(ATM):c.112G>A (p.Glu38Lys)	472	ATM	Uncertain significance	1591446961	RCV000820181\|RCV003279110;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098542	108098542	11:g.108098542G>A	-
NM_000051.4(ATM):c.114A>G (p.Glu38=)	472	ATM	Likely benign	1591446969	RCV001488446;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098544	108098544	11:g.108098544A>G	-
NM_000051.4(ATM):c.115A>G (p.Thr39Ala)	472	ATM	Uncertain significance	779297339	RCV000164338\|RCV000231502\|RCV000416278\|RCV001535538\|RCV002288733\|RCV002509264;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:00	11	108098545	108098545	11:g.108098545A>G	ClinGen:CA190693	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.118A>G (p.Ile40Val)	472	ATM	Conflicting interpretations of pathogenicity	1064796002	RCV000479184\|RCV000535900\|RCV000775870;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098548	108098548	11:g.108098548A>G	ClinGen:CA16619094	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.121A>G (p.Lys41Glu)	472	ATM	Uncertain significance	1060501672	RCV000472729\|RCV000775928;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098551	108098551	NC_000011.9:g.108098551A>G	ClinGen:CA16613044	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.123A>G (p.Lys41=)	472	ATM	Likely benign	2135012681	RCV002217596;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098553	108098553	108098553	-
NM_000051.4(ATM):c.124C>A (p.His42Asn)	472	ATM	Uncertain significance	1591447034	RCV001010565\|RCV002551733;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098554	108098554	11:g.108098554C>A	-
NM_000051.4(ATM):c.125A>G (p.His42Arg)	472	ATM	Conflicting interpretations of pathogenicity	201773026	RCV000115139\|RCV000211940\|RCV000231946\|RCV001030450\|RCV001358550\|RCV001719857\|RCV003153366\|RCV003315633;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C36619	11	108098555	108098555	NC_000011.9:g.108098555A>G	ClinGen:CA286723	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.127C>G (p.Leu43Val)	472	ATM	Uncertain significance	772591447	RCV000166508\|RCV000322013\|RCV001356497\|RCV003462216;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098557	108098557	11:g.108098557C>G	ClinGen:CA196055	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.127C>A (p.Leu43Ile)	472	ATM	Uncertain significance	772591447	RCV000809584\|RCV001010717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098557	108098557	11:g.108098557C>A	-
NM_000051.4(ATM):c.127C>T (p.Leu43=)	472	ATM	Likely benign	772591447	RCV001471579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098557	108098557	11:g.108098557C>T	-
NM_000051.4(ATM):c.130G>T (p.Asp44Tyr)	472	ATM	Uncertain significance	1320733816	RCV000700455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098560	108098560	11:g.108098560G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.130G>C (p.Asp44His)	472	ATM	Uncertain significance	-1	RCV002971065;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098560	108098560	NC_000011.9:g.108098560G>C	-
NM_000051.4(ATM):c.131A>G (p.Asp44Gly)	472	ATM	Uncertain significance	150143957	RCV000166071\|RCV000197254\|RCV000590355\|RCV001255212\|RCV003474873;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098561	108098561	11:g.108098561A>G	ClinGen:CA194916	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.131A>T (p.Asp44Val)	472	ATM	Uncertain significance	150143957	RCV001068941;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098561	108098561	11:g.108098561A>T	-
NM_000051.4(ATM):c.133C>T (p.Arg45Trp)	472	ATM	Conflicting interpretations of pathogenicity	3218684	RCV000129025\|RCV000199094\|RCV000219679\|RCV001199867\|RCV002498640\|RCV003315869;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108098563	108098563	11:g.108098563C>T	ClinGen:CA163682,UniProtKB:Q13315#VAR_056678	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.133C>A (p.Arg45=)	472	ATM	Likely benign	3218684	RCV000564187\|RCV002510923\|RCV002530298;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098563	108098563	11:g.108098563C>A	ClinGen:CA6264517	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.134G>A (p.Arg45Gln)	472	ATM	Uncertain significance	762382111	RCV000168047\|RCV000217445\|RCV000235357\|RCV003468822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098564	108098564	NC_000011.9:g.108098564G>A	ClinGen:CA334193	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.135G>A (p.Arg45=)	472	ATM	Likely benign	970407823	RCV000439480\|RCV000466715\|RCV001011171;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098565	108098565	11:g.108098565G>A	ClinGen:CA16605753	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.135G>T (p.Arg45=)	472	ATM	Likely benign	970407823	RCV000568946\|RCV001422234;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098565	108098565	NC_000011.9:g.108098565G>T	ClinGen:CA228368294	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.135G>C (p.Arg45=)	472	ATM	Likely benign	970407823	RCV001490344\|RCV002384806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098565	108098565	108098565	-
NM_000051.4(ATM):c.138_141del (p.His46fs)	472	ATM	Pathogenic	786203370	RCV000166647\|RCV000235307\|RCV000690803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098566	108098569	11:g.108098566_108098569del	ClinGen:CA196383	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.137A>C (p.His46Pro)	472	ATM	Uncertain significance	1591447177	RCV000818787\|RCV002307627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108098567	108098567	11:g.108098567A>C	-
NM_000051.4(ATM):c.138T>C (p.His46=)	472	ATM	Likely benign	770834907	RCV000205818\|RCV000443192\|RCV000566659\|RCV001697212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108098568	108098568	NC_000011.9:g.108098568T>C	ClinGen:CA349938	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.138T>G (p.His46Gln)	472	ATM	Uncertain significance	770834907	RCV001071932\|RCV003160592\|RCV003229017;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108098568	108098568	11:g.108098568T>G	-
NM_000051.4(ATM):c.140C>G (p.Ser47Ter)	472	ATM	Pathogenic	774185390	RCV000196694\|RCV002390530\|RCV003454496;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098570	108098570	NC_000011.9:g.108098570C>G	ClinGen:CA336635	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.142G>C (p.Asp48His)	472	ATM	Uncertain significance	2135013650	RCV001967364;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098572	108098572	108098572	-
NM_000051.4(ATM):c.143A>G (p.Asp48Gly)	472	ATM	Uncertain significance	2078822797	RCV001300203;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098573	108098573	108098573	-
NM_000051.4(ATM):c.145del (p.Ser49fs)	472	ATM	Pathogenic	-1	RCV002868000;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098574	108098574	NC_000011.9:g.108098575del	-
NM_000051.4(ATM):c.145T>A (p.Ser49Thr)	472	ATM	Uncertain significance	2135013712	RCV002048027\|RCV002389025;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098575	108098575	108098575	-
NM_000051.4(ATM):c.146C>G (p.Ser49Cys)	472	ATM	Benign	1800054	RCV000003189\|RCV000122818\|RCV000128940\|RCV000176968\|RCV000224620\|RCV001357240\|RCV001353116\|RCV002221467\|RCV002225258;	N	MedGen:C3469522\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|Human Phenotype Ontology:HP:0002394,Human P	11	108098576	108098576	11:g.108098576C>G	ClinGen:CA202190,UniProtKB:Q13315#VAR_010798,OMIM:607585.0032	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.146C>T (p.Ser49Phe)	472	ATM	Uncertain significance	1800054	RCV000122819\|RCV000485863\|RCV000574147;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098576	108098576	NC_000011.9:g.108098576C>T	ClinGen:CA332312	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.147C>T (p.Ser49=)	472	ATM	Likely benign	876660033	RCV000220850\|RCV002054987;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098577	108098577	11:g.108098577C>T	ClinGen:CA10578944	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.149A>G (p.Lys50Arg)	472	ATM	Uncertain significance	1479478300	RCV000701116\|RCV000772347\|RCV003444651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098579	108098579	11:g.108098579A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.151C>T (p.Gln51Ter)	472	ATM	Pathogenic	786203888	RCV000167389\|RCV001068287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098581	108098581	11:g.108098581C>T	ClinGen:CA198174	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.153dup (p.Gly52fs)	472	ATM	Likely pathogenic	1555054197	RCV000669191;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098581	108098582	NC_000011.9:g.108098583dup	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.153A>G (p.Gln51=)	472	ATM	Uncertain significance	2078823585	RCV001906656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098583	108098583	108098583	-
NM_000051.4(ATM):c.154G>A (p.Gly52Arg)	472	ATM	Uncertain significance	730881362	RCV001012080\|RCV001860693;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098584	108098584	11:g.108098584G>A	-
NM_000051.4(ATM):c.154G>C (p.Gly52Arg)	472	ATM	Uncertain significance	730881362	RCV002011267;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098584	108098584	108098584	-
NM_000051.4(ATM):c.156A>C (p.Gly52=)	472	ATM	Conflicting interpretations of pathogenicity	876660725	RCV000222551\|RCV001400504\|RCV003238744;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108098586	108098586	11:g.108098586A>C	ClinGen:CA10578945	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.157A>C (p.Lys53Gln)	472	ATM	Uncertain significance	876659078	RCV000215164\|RCV000467915\|RCV001192390\|RCV003469027;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098587	108098587	11:g.108098587A>C	ClinGen:CA10578946	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.157A>T (p.Lys53Ter)	472	ATM	Pathogenic/Likely pathogenic	876659078	RCV000588106\|RCV002404590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098587	108098587	NC_000011.9:g.108098587A>T	ClinGen:CA382520363	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.158A>C (p.Lys53Thr)	472	ATM	Uncertain significance	-1	RCV002971024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098588	108098588	NC_000011.9:g.108098588A>C	-
NM_000051.4(ATM):c.159A>G (p.Lys53=)	472	ATM	Likely benign	1060504281	RCV000469175\|RCV000562156;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098589	108098589	NC_000011.9:g.108098589A>G	ClinGen:CA16613210	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.162T>C (p.Tyr54=)	472	ATM	Conflicting interpretations of pathogenicity	3218690	RCV000119217\|RCV000123737\|RCV000211941\|RCV000415913\|RCV001262812\|RCV001798375\|RCV002225353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN221562\|MONDO:MONDO:000	11	108098592	108098592	11:g.108098592T>C	ClinGen:CA289553	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.164T>G (p.Leu55Trp)	472	ATM	Uncertain significance	1565344888	RCV000697868\|RCV002397431;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098594	108098594	NC_000011.9:g.108098594T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.165G>C (p.Leu55Phe)	472	ATM	Uncertain significance	1555054230	RCV000544394\|RCV001012554\|RCV001821465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108098595	108098595	11:g.108098595G>C	ClinGen:CA382520467	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.167A>C (p.Asn56Thr)	472	ATM	Uncertain significance	1040197895	RCV001525194\|RCV001872071;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098597	108098597	108098597	-
NM_000051.4(ATM):c.168T>G (p.Asn56Lys)	472	ATM	Uncertain significance	1591447362	RCV001012761\|RCV002549378;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098598	108098598	11:g.108098598T>G	-
NM_000051.4(ATM):c.168T>C (p.Asn56=)	472	ATM	Likely benign	1591447362	RCV001506431;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098598	108098598	108098598	-
NM_000051.4(ATM):c.169T>C (p.Trp57Arg)	472	ATM	Uncertain significance	1555054238	RCV000571278\|RCV001361815;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098599	108098599	NC_000011.9:g.108098599T>C	ClinGen:CA382520500	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.169T>G (p.Trp57Gly)	472	ATM	Uncertain significance	-1	RCV002298184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098599	108098599	108098599	-
NM_000051.4(ATM):c.170G>A (p.Trp57Ter)	472	ATM	Pathogenic	587779818	RCV000115145\|RCV000197540\|RCV000211942\|RCV001257476\|RCV001258115\|RCV001509557;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108098600	108098600	NC_000011.9:g.108098600G>A	ClinGen:CA286735	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.172del (p.Asp58fs)	472	ATM	Pathogenic	1555054243	RCV000583535\|RCV002530776;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098600	108098600	11:g.108098600_108098600del	ClinGen:CA658683702	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.171G>T (p.Trp57Cys)	472	ATM	Uncertain significance	1555054249	RCV000565336\|RCV001225938;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098601	108098601	11:g.108098601G>T	ClinGen:CA382520517	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.172G>T (p.Asp58Tyr)	472	ATM	Conflicting interpretations of pathogenicity	876660661	RCV000222411\|RCV000627984\|RCV002265695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098602	108098602	11:g.108098602G>T	ClinGen:CA10578947	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.172G>C (p.Asp58His)	472	ATM	Uncertain significance	876660661	RCV000586679\|RCV001050371\|RCV002413662;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098602	108098602	11:g.108098602G>C	ClinGen:CA382520526	CN517202 not provided;
NM_000051.4(ATM):c.172G>A (p.Asp58Asn)	472	ATM	Uncertain significance	876660661	RCV002044612\|RCV002406921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098602	108098602	108098602	-
NM_000051.4(ATM):c.173A>T (p.Asp58Val)	472	ATM	Uncertain significance	1378701359	RCV001057859;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098603	108098603	11:g.108098603A>T	-
NM_000051.4(ATM):c.173A>G (p.Asp58Gly)	472	ATM	Uncertain significance	1378701359	RCV001178707\|RCV001214789;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098603	108098603	11:g.108098603A>G	-
NM_000051.4(ATM):c.175G>T (p.Ala59Ser)	472	ATM	Uncertain significance	752527112	RCV000214079\|RCV000557155\|RCV001194331\|RCV003469081;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098605	108098605	11:g.108098605G>T	ClinGen:CA6264518	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.176C>T (p.Ala59Val)	472	ATM	Uncertain significance	760880388	RCV000220585\|RCV001828090;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098606	108098606	11:g.108098606C>T	ClinGen:CA6264519	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.178G>C (p.Val60Leu)	472	ATM	Uncertain significance	1166668199	RCV000703374\|RCV001013165;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098608	108098608	NC_000011.9:g.108098608G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.178G>A (p.Val60Ile)	472	ATM	Uncertain significance	1166668199	RCV002047511;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098608	108098608	108098608	-
NM_000051.4(ATM):c.179T>C (p.Val60Ala)	472	ATM	Uncertain significance	988441570	RCV000574510\|RCV000704135\|RCV003409841;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108098609	108098609	11:g.108098609T>C	ClinGen:CA228368356	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.183del (p.Phe61fs)	472	ATM	Pathogenic/Likely pathogenic	2135014976	RCV001388517\|RCV003473986;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098609	108098609	108098608	-
NM_000051.4(ATM):c.180T>G (p.Val60=)	472	ATM	Conflicting interpretations of pathogenicity	786201375	RCV000163497\|RCV000628316\|RCV002291576;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108098610	108098610	11:g.108098610T>G	ClinGen:CA188454	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.181T>A (p.Phe61Ile)	472	ATM	Uncertain significance	2078825833	RCV001235729;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098611	108098611	11:g.108098611T>A	-
NM_000051.4(ATM):c.182T>C (p.Phe61Ser)	472	ATM	Uncertain significance	786203063	RCV000166202\|RCV001202594;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098612	108098612	11:g.108098612T>C	ClinGen:CA195233	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.184A>G (p.Arg62Gly)	472	ATM	Uncertain significance	876659407	RCV000223254\|RCV000464631\|RCV000479547;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108098614	108098614	11:g.108098614A>G	ClinGen:CA10578948	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.185+1del	472	ATM	Likely pathogenic	2078826294	RCV001047764\|RCV003160367\|RCV003455201;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098615	108098615	11:g.108098615_108098615del	-
NM_000051.4(ATM):c.185+1G>A	472	ATM	Likely pathogenic	112805604	RCV000205116\|RCV002408894\|RCV003468943;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108098616	108098616	11:g.108098616G>A	ClinGen:CA349320	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.185+3A>G	472	ATM	Uncertain significance	1372755571	RCV001237686\|RCV001760254;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108098618	108098618	11:g.108098618A>G	-
NM_000051.4(ATM):c.185+4T>A	472	ATM	Uncertain significance	1060501685	RCV000473109\|RCV000566818;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098619	108098619	NC_000011.9:g.108098619T>A	ClinGen:CA16613223	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.185+4T>G	472	ATM	Uncertain significance	1060501685	RCV000800385\|RCV002406770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098619	108098619	11:g.108098619T>G	-
NM_000051.4(ATM):c.185+6C>G	472	ATM	Conflicting interpretations of pathogenicity	1555054299	RCV000584279\|RCV001860062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098621	108098621	NC_000011.9:g.108098621C>G	ClinGen:CA658683703	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.185+6C>T	472	ATM	Uncertain significance	1555054299	RCV001224118;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098621	108098621	11:g.108098621C>T	-
NM_000051.4(ATM):c.185+7T>C	472	ATM	Likely benign	143404880	RCV000474961;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098622	108098622	NC_000011.9:g.108098622T>C	ClinGen:CA6264520	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.185+8A>G	472	ATM	Conflicting interpretations of pathogenicity	753891198	RCV000467210\|RCV000579638\|RCV003330706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108098623	108098623	NC_000011.9:g.108098623A>G	ClinGen:CA6264521	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.185+9T>G	472	ATM	Likely benign	-1	RCV002996051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098624	108098624	NC_000011.9:g.108098624T>G	-
NM_000051.4(ATM):c.185+10T>G	472	ATM	Likely benign	1555054317	RCV000611808\|RCV001470733;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098625	108098625	11:g.108098625T>G	ClinGen:CA658797774	CN169374 not specified;
NM_000051.4(ATM):c.185+10T>C	472	ATM	Conflicting interpretations of pathogenicity	1555054317	RCV000608421\|RCV000873892\|RCV001179640;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108098625	108098625	11:g.108098625T>C	ClinGen:CA658797775	CN169374 not specified;
NM_000051.4(ATM):c.185+14A>G	472	ATM	Likely benign	2135015612	RCV001985465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108098629	108098629	108098629	-
NC_000011.9:g.(?_108099885)_(108225621_?)del	472	ATM	Pathogenic	-1	RCV003119164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099885	108225621		-
NM_000051.4(ATM):c.186-19G>A	472	ATM	Likely benign	748791429	RCV000428414\|RCV000584524\|RCV002058972;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099886	108099886	11:g.108099886G>A	ClinGen:CA6264531	C0027672 Hereditary cancer-predisposing syndrome;
NC_000011.9:g.(?_108099886)_(108143599_?)del	472	ATM	Likely pathogenic	-1	RCV001377247;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099886	108143599	-1	-
NM_000051.4(ATM):c.186-17A>G	472	ATM	Benign	4987907	RCV000580439\|RCV000625500\|RCV000679101\|RCV001539978\|RCV001798902\|RCV002225673\|RCV003316751;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:00164	11	108099888	108099888	NC_000011.9:g.108099888A>G	ClinGen:CA6264532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.186-13T>A	472	ATM	Uncertain significance	2135032350	RCV002003139;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099892	108099892	108099892	-
NM_000051.4(ATM):c.186-8del	472	ATM	Benign/Likely benign	1555055031	RCV000581571\|RCV001637092\|RCV002060578;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099894	108099894	NC_000011.9:g.108099897del	ClinGen:CA658683707	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.186-11T>C	472	ATM	Likely benign	-1	RCV002590842;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099894	108099894	NC_000011.9:g.108099894T>C	-
NM_000051.4(ATM):c.186-10T>C	472	ATM	Likely benign	773957101	RCV001189386\|RCV002560049;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099895	108099895	11:g.108099895T>C	-
NC_000011.9:g.(?_108099895)_(108119839_?)dup	472	ATM	Uncertain significance	-1	RCV003119169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099895	108119839		-
NM_000051.4(ATM):c.186-8T>C	472	ATM	Likely benign	1355404740	RCV002139480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099897	108099897	108099897	-
NM_000051.4(ATM):c.186-7C>T	472	ATM	Benign/Likely benign	55674039	RCV000123747\|RCV000580817\|RCV000589334\|RCV001079259\|RCV001354839\|RCV002225389\|RCV003315803;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0002032,MedGen:C0699790\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108099898	108099898	NC_000011.9:g.108099898C>T	ClinGen:CA289568	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.186-6T>C	472	ATM	Likely benign	2078881202	RCV001503578;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099899	108099899	108099899	-
NM_000051.4(ATM):c.186-2A>G	472	ATM	Likely pathogenic	2078881350	RCV001211853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099903	108099903	11:g.108099903A>G	-
NM_000051.4(ATM):c.186-1G>A	472	ATM	Likely pathogenic	1259911051	RCV000573660\|RCV000810797\|RCV003459312;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108099904	108099904	11:g.108099904G>A	ClinGen:CA382520987	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.186A>G (p.Arg62=)	472	ATM	Likely benign	876658224	RCV000220214\|RCV000419524\|RCV000628012\|RCV001357942;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108099905	108099905	11:g.108099905A>G	ClinGen:CA10578949	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.189T>C (p.Phe63=)	472	ATM	Likely benign	926466183	RCV000574141\|RCV000983722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099908	108099908	NC_000011.9:g.108099908T>C	ClinGen:CA228369271	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.191T>G (p.Leu64Ter)	472	ATM	Pathogenic	1591451354	RCV000812048;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099910	108099910	11:g.108099910T>G	-
NM_000051.4(ATM):c.192A>G (p.Leu64=)	472	ATM	Likely benign	587780616	RCV000122827\|RCV000430931\|RCV000564792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099911	108099911	NC_000011.9:g.108099911A>G	ClinGen:CA332321	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.192del (p.Leu64fs)	472	ATM	Pathogenic/Likely pathogenic	878853490	RCV000231922\|RCV001013747\|RCV003469122;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108099911	108099911	11:g.108099911_108099911del	ClinGen:CA10582781	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.193C>T (p.Gln65Ter)	472	ATM	Pathogenic/Likely pathogenic	775248597	RCV000254811\|RCV000850055\|RCV001640592\|RCV001859488\|RCV003469204;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMI	11	108099912	108099912	11:g.108099912C>T	ClinGen:CA10588487	CN517202 not provided;
NM_000051.4(ATM):c.193C>G (p.Gln65Glu)	472	ATM	Uncertain significance	775248597	RCV000561045\|RCV000627894;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099912	108099912	11:g.108099912C>G	ClinGen:CA6264534	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.194A>G (p.Gln65Arg)	472	ATM	Uncertain significance	760471526	RCV000567749\|RCV000707181\|RCV003235290;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108099913	108099913	NC_000011.9:g.108099913A>G	ClinGen:CA6264535	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.195G>C (p.Gln65His)	472	ATM	Uncertain significance	1555055072	RCV000628087\|RCV001189988;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099914	108099914	NC_000011.9:g.108099914G>C	ClinGen:CA382521184	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.198dup (p.Tyr67fs)	472	ATM	Pathogenic	2135033137	RCV001901617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099914	108099915	108099914	-
NM_000051.4(ATM):c.196A>G (p.Lys66Glu)	472	ATM	Uncertain significance	1565346656	RCV000695199;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099915	108099915	NC_000011.9:g.108099915A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.196A>T (p.Lys66Ter)	472	ATM	Pathogenic	1565346656	RCV002037922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099915	108099915	108099915	-
NM_000051.4(ATM):c.198A>G (p.Lys66=)	472	ATM	Benign/Likely benign	540920248	RCV000122830\|RCV000159617\|RCV000211943\|RCV001358207\|RCV001798390\|RCV003390809;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MedGen:C3661900	11	108099917	108099917	NC_000011.9:g.108099917A>G	ClinGen:CA298001	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.198A>T (p.Lys66Asn)	472	ATM	Uncertain significance	540920248	RCV001013931\|RCV001342603;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099917	108099917	11:g.108099917A>T	-
NM_000051.4(ATM):c.200A>G (p.Tyr67Cys)	472	ATM	Uncertain significance	754033733	RCV000213607\|RCV000501575\|RCV000556463\|RCV001250443\|RCV001548023;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108099919	108099919	NC_000011.9:g.108099919A>G	ClinGen:CA6264536	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.201T>C (p.Tyr67=)	472	ATM	Likely benign	1555055083	RCV000568903\|RCV000842058\|RCV001403352;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099920	108099920	11:g.108099920T>C	ClinGen:CA476668215	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.202A>G (p.Ile68Val)	472	ATM	Conflicting interpretations of pathogenicity	35389822	RCV000115148\|RCV000199503\|RCV000515328\|RCV000587881\|RCV001355668\|RCV003149792\|RCV003467020;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108099921	108099921	NC_000011.9:g.108099921A>G	ClinGen:CA286738	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.203T>C (p.Ile68Thr)	472	ATM	Uncertain significance	1591451502	RCV000806175\|RCV002422763;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099922	108099922	11:g.108099922T>C	-
NM_000051.4(ATM):c.205C>A (p.Gln69Lys)	472	ATM	Uncertain significance	876660631	RCV000808591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099924	108099924	11:g.108099924C>A	-
NM_000051.4(ATM):c.206A>G (p.Gln69Arg)	472	ATM	Uncertain significance	-1	RCV003031980;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099925	108099925	NC_000011.9:g.108099925A>G	-
NM_000051.4(ATM):c.208A>G (p.Lys70Glu)	472	ATM	Uncertain significance	-1	RCV002300100;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099927	108099927	108099927	-
NM_000051.4(ATM):c.210A>T (p.Lys70Asn)	472	ATM	Uncertain significance	1064793030	RCV000480401\|RCV000551041\|RCV002418494;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099929	108099929	11:g.108099929A>T	ClinGen:CA16619095	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.210A>G (p.Lys70=)	472	ATM	Likely benign	1064793030	RCV001403270\|RCV002420662;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099929	108099929	NC_000011.9:g.108099929A>G	ClinGen:CA476668224	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.214A>G (p.Thr72Ala)	472	ATM	Uncertain significance	1223998386	RCV001245200\|RCV002430040;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099933	108099933	11:g.108099933A>G	-
NM_000051.4(ATM):c.215C>G (p.Thr72Arg)	472	ATM	Uncertain significance	876658893	RCV000689680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099934	108099934	11:g.108099934C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.215C>A (p.Thr72Lys)	472	ATM	Uncertain significance	876658893	RCV002029517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099934	108099934	108099934	-
NM_000051.4(ATM):c.217_218del (p.Glu73fs)	472	ATM	Pathogenic	762089971	RCV000690228\|RCV001014636\|RCV003128642;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108099935	108099936	11:g.108099935_108099936del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.217G>A (p.Glu73Lys)	472	ATM	Uncertain significance	1555055119	RCV000579907\|RCV001342540;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099936	108099936	NC_000011.9:g.108099936G>A	ClinGen:CA382521357	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.217del (p.Glu73fs)	472	ATM	Pathogenic	-1	RCV002871304;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099936	108099936	NC_000011.9:g.108099936del	-
NM_000051.4(ATM):c.220T>A (p.Cys74Ser)	472	ATM	Uncertain significance	1565346819	RCV000692453;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099939	108099939	11:g.108099939T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.221G>A (p.Cys74Tyr)	472	ATM	Uncertain significance	864622515	RCV000204362\|RCV001014833;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099940	108099940	NC_000011.9:g.108099940G>A	ClinGen:CA348606	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.222T>C (p.Cys74=)	472	ATM	Likely benign	1555055127	RCV000583487\|RCV002060585;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099941	108099941	11:g.108099941T>C	ClinGen:CA476668229	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.225G>A (p.Leu75=)	472	ATM	Likely benign	1060504306	RCV000467872\|RCV000581972\|RCV001721518;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108099944	108099944	NC_000011.9:g.108099944G>A	ClinGen:CA16613227	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.229dup (p.Ile77fs)	472	ATM	Pathogenic	1565346867	RCV000701061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099946	108099947	11:g.108099946_108099947insA	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.228A>C (p.Arg76Ser)	472	ATM	Uncertain significance	1591451698	RCV000817994\|RCV001176201;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099947	108099947	11:g.108099947A>C	-
NM_000051.4(ATM):c.228A>G (p.Arg76=)	472	ATM	Likely benign	1591451698	RCV001405791;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099947	108099947	108099947	-
NM_000051.4(ATM):c.229A>G (p.Ile77Val)	472	ATM	Uncertain significance	1064796032	RCV000487019\|RCV000571021\|RCV000812838\|RCV003470581;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108099948	108099948	11:g.108099948A>G	ClinGen:CA16619096	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.229A>C (p.Ile77Leu)	472	ATM	Uncertain significance	1064796032	RCV001342054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099948	108099948	108099948	-
NM_000051.4(ATM):c.232G>A (p.Ala78Thr)	472	ATM	Uncertain significance	878853493	RCV000226918\|RCV000561527;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099951	108099951	11:g.108099951G>A	ClinGen:CA10582782	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.233C>G (p.Ala78Gly)	472	ATM	Uncertain significance	876659669	RCV000222123\|RCV000235694\|RCV000469622;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099952	108099952	11:g.108099952C>G	ClinGen:CA10578952	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.237del (p.Lys79fs)	472	ATM	Pathogenic/Likely pathogenic	730881303	RCV000159632\|RCV000548948\|RCV000570996\|RCV003467217;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108099953	108099953	NC_000011.9:g.108099956del	ClinGen:CA298017	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.234A>G (p.Ala78=)	472	ATM	Likely benign	1555055145	RCV000581812\|RCV002060587;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099953	108099953	NC_000011.9:g.108099953A>G	ClinGen:CA476668239	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.236A>G (p.Lys79Arg)	472	ATM	Uncertain significance	1591451757	RCV001015312\|RCV001860789;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099955	108099955	11:g.108099955A>G	-
NM_000051.4(ATM):c.237A>G (p.Lys79=)	472	ATM	Likely benign	1160350816	RCV002144536;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099956	108099956	108099956	-
NM_000051.4(ATM):c.238C>T (p.Pro80Ser)	472	ATM	Uncertain significance	750597831	RCV000222655\|RCV000590630\|RCV003105829;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099957	108099957	11:g.108099957C>T	ClinGen:CA6264539	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.239C>T (p.Pro80Leu)	472	ATM	Uncertain significance	876659996	RCV000214605\|RCV000536473;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099958	108099958	11:g.108099958C>T	ClinGen:CA10578953	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.241A>G (p.Asn81Asp)	472	ATM	Uncertain significance	758962678	RCV000166809\|RCV000457539\|RCV000482292\|RCV001731415\|RCV003462226;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108099960	108099960	11:g.108099960A>G	ClinGen:CA196782	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.242A>G (p.Asn81Ser)	472	ATM	Uncertain significance	2135034894	RCV001820561\|RCV002449436\|RCV002542633;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099961	108099961	108099961	-
NM_000051.4(ATM):c.243T>C (p.Asn81=)	472	ATM	Likely benign	1591451819	RCV001015551\|RCV002068912;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099962	108099962	11:g.108099962T>C	-
NM_000051.4(ATM):c.244G>A (p.Val82Ile)	472	ATM	Uncertain significance	1412024666	RCV000579844\|RCV001320507;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099963	108099963	NC_000011.9:g.108099963G>A	ClinGen:CA382521536	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.246A>G (p.Val82=)	472	ATM	Likely benign	757944864	RCV000220508\|RCV000444810\|RCV000628314;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099965	108099965	11:g.108099965A>G	ClinGen:CA6264540	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.248del (p.Val82_Ser83insTer)	472	ATM	Pathogenic	2135035121	RCV001993321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099967	108099967	108099966	-
NM_000051.4(ATM):c.248C>T (p.Ser83Leu)	472	ATM	Uncertain significance	-1	RCV002603058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099967	108099967	NC_000011.9:g.108099967C>T	-
NM_000051.4(ATM):c.249A>C (p.Ser83=)	472	ATM	Likely benign	1591451851	RCV001393211\|RCV002427409;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099968	108099968	11:g.108099968A>C	-
NM_000051.4(ATM):c.249A>G (p.Ser83=)	472	ATM	Likely benign	1591451851	RCV001399981\|RCV002432104;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099968	108099968	108099968	-
NM_000051.4(ATM):c.249A>T (p.Ser83=)	472	ATM	Likely benign	1591451851	RCV002169301\|RCV002427711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099968	108099968	108099968	-
NM_000051.4(ATM):c.250G>T (p.Ala84Ser)	472	ATM	Uncertain significance	1382256509	RCV001015772\|RCV001832338\|RCV003467626;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108099969	108099969	11:g.108099969G>T	-
NM_000051.4(ATM):c.251C>T (p.Ala84Val)	472	ATM	Uncertain significance	587781937	RCV000130300\|RCV000466004\|RCV002251433\|RCV003230414;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108099970	108099970	11:g.108099970C>T	ClinGen:CA166128	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.252C>T (p.Ala84=)	472	ATM	Likely benign	-1	RCV003048782;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099971	108099971		-
NM_000051.4(ATM):c.253T>C (p.Ser85Pro)	472	ATM	Uncertain significance	-1	RCV002601699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099972	108099972	NC_000011.9:g.108099972T>C	-
NM_000051.4(ATM):c.255A>G (p.Ser85=)	472	ATM	Likely benign	2135035403	RCV001438443\|RCV003355478;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099974	108099974	108099974	-
NM_000051.4(ATM):c.255A>C (p.Ser85=)	472	ATM	Likely benign	-1	RCV002971058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099974	108099974		-
NM_000051.4(ATM):c.256A>G (p.Thr86Ala)	472	ATM	Uncertain significance	1565347018	RCV000693720;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099975	108099975	NC_000011.9:g.108099975A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.257C>T (p.Thr86Ile)	472	ATM	Uncertain significance	755326770	RCV000484719\|RCV001049850\|RCV003168935;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099976	108099976	11:g.108099976C>T	ClinGen:CA6264541	CN169374 not specified;
NM_000051.4(ATM):c.258A>G (p.Thr86=)	472	ATM	Likely benign	777434093	RCV000571302\|RCV000978667;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099977	108099977	11:g.108099977A>G	ClinGen:CA6264542	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.259C>G (p.Gln87Glu)	472	ATM	Uncertain significance	-1	RCV003141650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099978	108099978	NC_000011.9:g.108099978C>G	-
NM_000051.4(ATM):c.261A>G (p.Gln87=)	472	ATM	Likely benign	2078887941	RCV001035122\|RCV002434426;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099980	108099980	11:g.108099980A>G	-
NM_000051.4(ATM):c.264C>T (p.Ala88=)	472	ATM	Likely benign	1555055190	RCV000568679\|RCV001498162;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099983	108099983	NC_000011.9:g.108099983C>T	ClinGen:CA476668262	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.265T>C (p.Ser89Pro)	472	ATM	Uncertain significance	2135035804	RCV001929712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099984	108099984	108099984	-
NM_000051.4(ATM):c.266C>T (p.Ser89Phe)	472	ATM	Uncertain significance	375605135	RCV000220006\|RCV001064743;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099985	108099985	11:g.108099985C>T	ClinGen:CA6264543	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.267C>T (p.Ser89=)	472	ATM	Likely benign	1555055198	RCV000583917\|RCV001458276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099986	108099986	NC_000011.9:g.108099986C>T	ClinGen:CA476668264	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.268A>G (p.Arg90Gly)	472	ATM	Uncertain significance	868748140	RCV000627877\|RCV001016302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108099987	108099987	NC_000011.9:g.108099987A>G	ClinGen:CA228369414	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.270G>A (p.Arg90=)	472	ATM	Likely benign	1313014736	RCV001175991\|RCV001404787;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099989	108099989	11:g.108099989G>A	-
NM_000051.4(ATM):c.271C>T (p.Gln91Ter)	472	ATM	Pathogenic	2078888769	RCV001238395;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099990	108099990	11:g.108099990C>T	-
NM_000051.4(ATM):c.271C>G (p.Gln91Glu)	472	ATM	Uncertain significance	-1	RCV003020774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099990	108099990	NC_000011.9:g.108099990C>G	-
NM_000051.4(ATM):c.274A>G (p.Lys92Glu)	472	ATM	Uncertain significance	756969590	RCV001016486\|RCV001207110\|RCV003467630;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108099993	108099993	11:g.108099993A>G	-
NM_000051.4(ATM):c.276_284dup (p.Lys93_Gln95dup)	472	ATM	Uncertain significance	2078889184	RCV001215784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099993	108099994	11:g.108099993_108099994insAAAAGATGC	-
NM_000051.4(ATM):c.274A>C (p.Lys92Gln)	472	ATM	Uncertain significance	-1	RCV002760504;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099993	108099993	NC_000011.9:g.108099993A>C	-
NM_000051.4(ATM):c.275A>C (p.Lys92Thr)	472	ATM	Conflicting interpretations of pathogenicity	200151849	RCV000120147\|RCV000165208\|RCV000205193\|RCV000656755\|RCV000764932\|RCV003460845;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108099994	108099994	11:g.108099994A>C	ClinGen:CA157141	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.276A>G (p.Lys92=)	472	ATM	Likely benign	786201137	RCV000162746\|RCV000431761\|RCV000977201;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099995	108099995	11:g.108099995A>G	ClinGen:CA186860	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.277A>G (p.Lys93Glu)	472	ATM	Uncertain significance	1555055234	RCV000580408\|RCV002298694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099996	108099996	NC_000011.9:g.108099996A>G	ClinGen:CA382521666	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.279G>A (p.Lys93=)	472	ATM	Conflicting interpretations of pathogenicity	368196317	RCV000456197\|RCV000574249\|RCV001468789;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099998	108099998	NC_000011.9:g.108099998G>A	ClinGen:CA6264545	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.279G>C (p.Lys93Asn)	472	ATM	Uncertain significance	368196317	RCV001294668;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108099998	108099998	108099998	-
NM_000051.4(ATM):c.280A>G (p.Met94Val)	472	ATM	Uncertain significance	864622758	RCV000204864\|RCV000222447\|RCV001781613\|RCV003155126\|RCV003326128;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108099999	108099999	NC_000011.9:g.108099999A>G	ClinGen:CA349058	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.281T>A (p.Met94Lys)	472	ATM	Uncertain significance	2078889761	RCV001234771;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100000	108100000	11:g.108100000T>A	-
NM_000051.4(ATM):c.282G>A (p.Met94Ile)	472	ATM	Uncertain significance	2078889859	RCV001211111\|RCV001806047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108100001	108100001	11:g.108100001G>A	-
NM_000051.4(ATM):c.283C>T (p.Gln95Ter)	472	ATM	Pathogenic/Likely pathogenic	587781545	RCV000129559\|RCV001194302\|RCV001857440\|RCV002492495;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108100002	108100002	11:g.108100002C>T	ClinGen:CA164660	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.283C>A (p.Gln95Lys)	472	ATM	Conflicting interpretations of pathogenicity	587781545	RCV000159724\|RCV000229615\|RCV000445811\|RCV000764933\|RCV001175058;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108100002	108100002	NC_000011.9:g.108100002C>A	ClinGen:CA298245	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.283C>G (p.Gln95Glu)	472	ATM	Uncertain significance	587781545	RCV000772438\|RCV001856016;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100002	108100002	NC_000011.9:g.108100002C>G	-
NM_000051.4(ATM):c.285G>C (p.Gln95His)	472	ATM	Uncertain significance	1316615402	RCV001016804\|RCV001062339;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100004	108100004	11:g.108100004G>C	-
NM_000051.4(ATM):c.289del (p.Ile97fs)	472	ATM	Pathogenic/Likely pathogenic	878853497	RCV000225848\|RCV000567201\|RCV003469124;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108100006	108100006	NC_000011.9:g.108100008del	ClinGen:CA10582783	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.288A>G (p.Glu96=)	472	ATM	Likely benign	1226812648	RCV002076671;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100007	108100007	108100007	-
NM_000051.4(ATM):c.289A>G (p.Ile97Val)	472	ATM	Uncertain significance	1565347206	RCV000779789\|RCV001201965;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100008	108100008	NC_000011.9:g.108100008A>G	-
NM_000051.4(ATM):c.290T>C (p.Ile97Thr)	472	ATM	Uncertain significance	786203011	RCV000166129\|RCV000200635\|RCV000585916\|RCV000767895\|RCV001804170\|RCV003407617\|RCV003468773;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108100009	108100009	11:g.108100009T>C	ClinGen:CA195074	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.291C>T (p.Ile97=)	472	ATM	Likely benign	746762110	RCV000562740\|RCV000980614\|RCV001355150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108100010	108100010	11:g.108100010C>T	ClinGen:CA6264546	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.292A>C (p.Ser98Arg)	472	ATM	Uncertain significance	768318076	RCV000777650\|RCV000818439;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100011	108100011	NC_000011.9:g.108100011A>C	-
NM_000051.4(ATM):c.292A>T (p.Ser98Cys)	472	ATM	Uncertain significance	-1	RCV002837970;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100011	108100011	NC_000011.9:g.108100011A>T	-
NM_000051.4(ATM):c.295A>G (p.Ser99Gly)	472	ATM	Conflicting interpretations of pathogenicity	137882485	RCV000115169\|RCV000196996\|RCV000515313\|RCV000588846\|RCV000855626\|RCV001293035;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108100014	108100014	NC_000011.9:g.108100014A>G	ClinGen:CA286794	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.296G>A (p.Ser99Asn)	472	ATM	Uncertain significance	2078891183	RCV001349171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100015	108100015	108100015	-
NM_000051.4(ATM):c.296del (p.Ser99fs)	472	ATM	Pathogenic	-1	RCV003027224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100015	108100015	NC_000011.9:g.108100015del	-
NM_000051.4(ATM):c.297T>G (p.Ser99Arg)	472	ATM	Uncertain significance	-1	RCV002628758;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100016	108100016	NC_000011.9:g.108100016T>G	-
NM_000051.4(ATM):c.299T>A (p.Leu100Ter)	472	ATM	Pathogenic	761936549	RCV000706123\|RCV003141703;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108100018	108100018	11:g.108100018T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.300G>A (p.Leu100=)	472	ATM	Likely benign	878853499	RCV000772158\|RCV001491793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100019	108100019	NC_000011.9:g.108100019G>A	ClinGen:CA10582784	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.300G>C (p.Leu100Phe)	472	ATM	Uncertain significance	878853499	RCV002036837;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100019	108100019	108100019	-
NM_000051.4(ATM):c.301G>A (p.Val101Ile)	472	ATM	Uncertain significance	758483894	RCV000213182\|RCV000485097\|RCV000707408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100020	108100020	11:g.108100020G>A	ClinGen:CA6264549	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.303C>T (p.Val101=)	472	ATM	Likely benign	1555055291	RCV000582148\|RCV002060590;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100022	108100022	NC_000011.9:g.108100022C>T	ClinGen:CA476668277	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.303C>G (p.Val101=)	472	ATM	Likely benign	1555055291	RCV001186822\|RCV001488781;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100022	108100022	11:g.108100022C>G	-
NM_000051.4(ATM):c.305A>T (p.Lys102Ile)	472	ATM	Uncertain significance	1555055293	RCV000627892\|RCV003465368;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108100024	108100024	NC_000011.9:g.108100024A>T	ClinGen:CA382521746	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.306A>G (p.Lys102=)	472	ATM	Uncertain significance	1060501626	RCV000462446;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100025	108100025	NC_000011.9:g.108100025A>G	ClinGen:CA16612963	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.307T>A (p.Tyr103Asn)	472	ATM	Uncertain significance	-1	RCV003079129\|RCV003274207;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108100026	108100026	NC_000011.9:g.108100026T>A	-
NM_000051.4(ATM):c.308A>G (p.Tyr103Cys)	472	ATM	Uncertain significance	1249361503	RCV001305659\|RCV002322208;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108100027	108100027	108100027	-
NM_000051.4(ATM):c.308A>C (p.Tyr103Ser)	472	ATM	Uncertain significance	-1	RCV003061831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100027	108100027	NC_000011.9:g.108100027A>C	-
NM_000051.4(ATM):c.309C>T (p.Tyr103=)	472	ATM	Likely benign	777499935	RCV001176448\|RCV001503948;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100028	108100028	11:g.108100028C>T	-
NM_000051.4(ATM):c.311del (p.Phe104fs)	472	ATM	Pathogenic	1555055309	RCV000526550;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100029	108100029	11:g.108100029_108100029del	ClinGen:CA658656145	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.312C>T (p.Phe104=)	472	ATM	Likely benign	1060504310	RCV000472538;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100031	108100031	NC_000011.9:g.108100031C>T	ClinGen:CA16613233	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.314T>A (p.Ile105Asn)	472	ATM	Uncertain significance	-1	RCV002300358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100033	108100033	108100033	-
NM_000051.4(ATM):c.315C>T (p.Ile105=)	472	ATM	Likely benign	1057522344	RCV000424628\|RCV002059602;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100034	108100034	11:g.108100034C>T	ClinGen:CA16605754	CN169374 not specified;
NM_000051.4(ATM):c.318dup (p.Cys107fs)	472	ATM	Pathogenic	1591452378	RCV001914272;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100034	108100035	108100034	-
NM_000051.4(ATM):c.318del (p.Lys106fs)	472	ATM	Pathogenic	1591452378	RCV001019079\|RCV001206502;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100035	108100035	11:g.108100035_108100035del	-
NM_000051.4(ATM):c.317A>G (p.Lys106Arg)	472	ATM	Uncertain significance	878853501	RCV000233926;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100036	108100036	NC_000011.9:g.108100036A>G	ClinGen:CA10582785	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.318A>C (p.Lys106Asn)	472	ATM	Uncertain significance	1555055319	RCV000527869\|RCV002323894;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108100037	108100037	NC_000011.9:g.108100037A>C	ClinGen:CA382521778	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.319T>C (p.Cys107Arg)	472	ATM	Likely benign	864622508	RCV000206572;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100038	108100038	NC_000011.9:g.108100038T>C	ClinGen:CA350592	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr)	472	ATM	Conflicting interpretations of pathogenicity	142358238	RCV000115173\|RCV000198992\|RCV000515352\|RCV000589242\|RCV001260261\|RCV001357199\|RCV002225317\|RCV003407491;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108100039	108100039	NC_000011.9:g.108100039G>A	ClinGen:CA286800	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.322G>A (p.Ala108Thr)	472	ATM	Uncertain significance	730881370	RCV000204104\|RCV001019324\|RCV001721018\|RCV003467231;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108100041	108100041	NC_000011.9:g.108100041G>A	ClinGen:CA298248	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.323C>G (p.Ala108Gly)	472	ATM	Uncertain significance	766951228	RCV000469916\|RCV000567717\|RCV003470429;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108100042	108100042	NC_000011.9:g.108100042C>G	ClinGen:CA6264550	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.326dup (p.Asn109fs)	472	ATM	Pathogenic	2135038488	RCV001894232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100042	108100043	108100042	-
NM_000051.4(ATM):c.324A>G (p.Ala108=)	472	ATM	Likely benign	2135038430	RCV001398096\|RCV002322386;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108100043	108100043	108100043	-
NM_000051.4(ATM):c.325_326del (p.Asn109fs)	472	ATM	Pathogenic	2135038488	RCV001951027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100043	108100044	108100042	-
NM_000051.4(ATM):c.325A>G (p.Asn109Asp)	472	ATM	Uncertain significance	2135038523	RCV001993722;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100044	108100044	108100044	-
NM_000051.4(ATM):c.325A>T (p.Asn109Tyr)	472	ATM	Uncertain significance	2135038523	RCV001902208\|RCV002324251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108100044	108100044	108100044	-
NM_000051.4(ATM):c.326A>G (p.Asn109Ser)	472	ATM	Uncertain significance	2078893700	RCV001296481\|RCV002322187;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108100045	108100045	108100045	-
NM_000051.4(ATM):c.328A>G (p.Arg110Gly)	472	ATM	Uncertain significance	2078893781	RCV001206472;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100047	108100047	11:g.108100047A>G	-
NM_000051.4(ATM):c.330A>C (p.Arg110Ser)	472	ATM	Uncertain significance	1555055350	RCV000548205;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100049	108100049	11:g.108100049A>C	ClinGen:CA382521831	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.331+1G>A	472	ATM	Pathogenic/Likely pathogenic	1555055356	RCV000576405\|RCV000788912\|RCV000777474\|RCV003459414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108100051	108100051	11:g.108100051G>A	ClinGen:CA382521837	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.331+2T>G	472	ATM	Pathogenic	1555055358	RCV000528884\|RCV003321643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108100052	108100052	11:g.108100052T>G	ClinGen:CA382521846	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.331+2T>C	472	ATM	Likely pathogenic	1555055358	RCV002240086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100052	108100052	108100052	-
NM_000051.4(ATM):c.331+3A>C	472	ATM	Uncertain significance	2078894221	RCV001337636\|RCV002456471;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108100053	108100053	108100053	-
NM_000051.4(ATM):c.331+4A>G	472	ATM	Uncertain significance	-1	RCV002979070;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100054	108100054	NC_000011.9:g.108100054A>G	-
NM_000051.4(ATM):c.331+5G>A	472	ATM	Pathogenic/Likely pathogenic	752135143	RCV000216445\|RCV000410500\|RCV000761802\|RCV002494588\|RCV003469016;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108100055	108100055	11:g.108100055G>A	ClinGen:CA6264551	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.331+7G>A	472	ATM	Uncertain significance	1184757004	RCV000536930\|RCV000583644\|RCV000601434\|RCV002221551;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108100057	108100057	NC_000011.9:g.108100057G>A	ClinGen:CA658656149	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.331+8A>G	472	ATM	Likely benign	878853503	RCV001412540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100058	108100058	11:g.108100058A>G	ClinGen:CA10582786	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.331+10G>A	472	ATM	Likely benign	755557468	RCV000930701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100060	108100060	11:g.108100060G>A	-
NM_000051.4(ATM):c.331+10G>C	472	ATM	Likely benign	755557468	RCV001428556;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100060	108100060	108100060	-
NM_000051.4(ATM):c.331+11T>C	472	ATM	Likely benign	-1	RCV003073525;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100061	108100061	NC_000011.9:g.108100061T>C	-
NM_000051.4(ATM):c.331+19_331+25del	472	ATM	Likely benign	-1	RCV002947985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100061	108100067	NC_000011.9:g.108100062TATAAAT[1]	-
NM_000051.4(ATM):c.331+12T>C	472	ATM	Likely benign	2135039169	RCV002083901;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100062	108100062	108100062	-
NM_000051.4(ATM):c.331+17A>G	472	ATM	Likely benign	-1	RCV002909131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100067	108100067	NC_000011.9:g.108100067A>G	-
NM_000051.4(ATM):c.331+18T>G	472	ATM	Likely benign	-1	RCV003057516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100068	108100068	NC_000011.9:g.108100068T>G	-
NM_000051.4(ATM):c.331+18T>C	472	ATM	Likely benign	-1	RCV003036683;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100068	108100068	NC_000011.9:g.108100068T>C	-
NM_000051.4(ATM):c.331+21_331+26del	472	ATM	Likely benign	2078895533	RCV002153220;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100069	108100074	108100068	-
NM_000051.4(ATM):c.331+19T>G	472	ATM	Likely benign	-1	RCV002852385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108100069	108100069	NC_000011.9:g.108100069T>G	-
NC_000011.9:g.(?_108101030)_(108121474_?)del	472	ATM	Pathogenic	-1	RCV001958994;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108101030	108121474	-1	-
NM_000051.4(ATM):c.332-1009A>T	472	ATM	Uncertain significance	-1	RCV002850915;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108105388	108105388	NC_000011.9:g.108105388A>T	-
NM_000051.4(ATM):c.332-20_332-17del	472	ATM	Likely benign	898739905	RCV001183823\|RCV002067943;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106374	108106377	11:g.108106374_108106377del	-
NC_000011.9:g.(?_108106377)_(108143599_?)dup	472	ATM	Likely pathogenic	-1	RCV001980444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106377	108143599	-1	-
NM_000051.4(ATM):c.332-20A>G	472	ATM	Likely benign	1555058985	RCV002119027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106377	108106377	108106377	-
NC_000011.9:g.(?_108106377)_(108236235_?)dup	472	ATM	Uncertain significance	-1	RCV003119182;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106377	108236235		-
NM_000051.4(ATM):c.332-20A>T	472	ATM	Likely benign	-1	RCV002872346;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106377	108106377	NC_000011.9:g.108106377A>T	-
NM_000051.4(ATM):c.332-16_332-13del	472	ATM	Likely benign	-1	RCV002998979;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106378	108106381	NC_000011.9:g.108106381_108106384del	-
NM_000051.4(ATM):c.332-16G>C	472	ATM	Likely benign	2135120413	RCV002155024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106381	108106381	108106381	-
NM_000051.4(ATM):c.332-16G>T	472	ATM	Likely benign	-1	RCV003013872;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106381	108106381	NC_000011.9:g.108106381G>T	-
NM_000051.4(ATM):c.332-11T>C	472	ATM	Likely benign	1565356404	RCV000771659\|RCV002067232;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106386	108106386	NC_000011.9:g.108106386T>C	-
NC_000011.10:g.(?_108235660)_(108284483_?)del	472	ATM	Pathogenic	-1	RCV001031613;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106387	108155210	-1	-
NC_000011.9:g.(?_108106387)_(108106571_?)del	472	ATM	Likely pathogenic	-1	RCV001379789;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106387	108106571	-1	-
NC_000011.9:g.(?_108106387)_(108236235_?)dup	472	ATM	Uncertain significance	-1	RCV001999187;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106387	108236235	-1	-
NC_000011.9:g.(?_108106387)_(108119839_?)dup	472	ATM	Likely pathogenic	-1	RCV003119171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106387	108119839		-
NM_000051.4(ATM):c.332-8T>A	472	ATM	Uncertain significance	2079233073	RCV001324177;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106389	108106389	108106389	-
NM_000051.4(ATM):c.332-8T>C	472	ATM	Likely benign	-1	RCV003032480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106389	108106389	NC_000011.9:g.108106389T>C	-
NM_000051.4(ATM):c.332-7G>A	472	ATM	Conflicting interpretations of pathogenicity	1591474291	RCV001179745\|RCV001481944;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106390	108106390	11:g.108106390G>A	-
NM_000051.4(ATM):c.332-7G>C	472	ATM	Likely benign	1591474291	RCV001445195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106390	108106390	108106390	-
NM_000051.4(ATM):c.332-7G>T	472	ATM	Likely benign	1591474291	RCV001766044\|RCV002074024;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106390	108106390	108106390	-
NC_000011.10:g.(?_108235664)_(108235840_?)del	472	ATM	Likely pathogenic	-1	RCV000557078;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106391	108106567		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.332-4A>T	472	ATM	Likely benign	2135120646	RCV002210785;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106393	108106393	108106393	-
NM_000051.4(ATM):c.332-3T>C	472	ATM	Conflicting interpretations of pathogenicity	376116157	RCV000166067\|RCV000226757\|RCV000430214\|RCV001704210;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108106394	108106394	11:g.108106394T>C	ClinGen:CA194908	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.332_334delGAG	472	ATM	Uncertain significance	1060501621	RCV000464718\|RCV000580443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106395	108106397	NC_000011.9:g.108106397_108106399del	ClinGen:CA16612965	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.332-1G>A	472	ATM	Pathogenic	747855862	RCV000217634\|RCV000480467\|RCV002221517\|RCV002519688;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106396	108106396	11:g.108106396G>A	ClinGen:CA6264590	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.333A>G (p.Arg111=)	472	ATM	Likely benign	2135120788	RCV002084971;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106398	108106398	108106398	-
NM_000051.4(ATM):c.334G>A (p.Ala112Thr)	472	ATM	Conflicting interpretations of pathogenicity	146382972	RCV000115175\|RCV000195412\|RCV000211948\|RCV000515264\|RCV000588561\|RCV001354149\|RCV002225318\|RCV003415883;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108106399	108106399	NC_000011.9:g.108106399G>A	ClinGen:CA286806	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.335C>T (p.Ala112Val)	472	ATM	Uncertain significance	1591474358	RCV001020083\|RCV001827200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106400	108106400	11:g.108106400C>T	-
NM_000051.4(ATM):c.335C>A (p.Ala112Glu)	472	ATM	Uncertain significance	1591474358	RCV001225127;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106400	108106400	11:g.108106400C>A	-
NM_000051.4(ATM):c.336A>T (p.Ala112=)	472	ATM	Likely benign	777759909	RCV000565668\|RCV002060425;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106401	108106401	11:g.108106401A>T	ClinGen:CA476670338	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.336A>G (p.Ala112=)	472	ATM	Likely benign	777759909	RCV001416423;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106401	108106401	108106401	-
NM_000051.4(ATM):c.337C>T (p.Pro113Ser)	472	ATM	Uncertain significance	1060501678	RCV000458755\|RCV000575846\|RCV003463888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106402	108106402	NC_000011.9:g.108106402C>T	ClinGen:CA16612971	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.338C>T (p.Pro113Leu)	472	ATM	Uncertain significance	876658324	RCV000221477\|RCV002518252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106403	108106403	11:g.108106403C>T	ClinGen:CA10578954	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.339T>C (p.Pro113=)	472	ATM	Likely benign	1555059023	RCV000543352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106404	108106404	NC_000011.9:g.108106404T>C	ClinGen:CA476670341	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.340A>G (p.Arg114Gly)	472	ATM	Uncertain significance	927409082	RCV001349429\|RCV003375249;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106405	108106405	108106405	-
NM_000051.4(ATM):c.342G>A (p.Arg114=)	472	ATM	Likely benign	1555059036	RCV000544712\|RCV000566379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106407	108106407	11:g.108106407G>A	ClinGen:CA476670343	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.342G>C (p.Arg114Ser)	472	ATM	Uncertain significance	1555059036	RCV001038605\|RCV001190758;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106407	108106407	11:g.108106407G>C	-
NM_000051.4(ATM):c.343C>G (p.Leu115Val)	472	ATM	Uncertain significance	1555059048	RCV000819156\|RCV002453874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106408	108106408	11:g.108106408C>G	-
NM_000051.4(ATM):c.345A>G (p.Leu115=)	472	ATM	Likely benign	2079235213	RCV001175716\|RCV002068140;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106410	108106410	11:g.108106410A>G	-
NM_000051.4(ATM):c.345A>C (p.Leu115=)	472	ATM	Likely benign	-1	RCV002881141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106410	108106410		-
NM_000051.4(ATM):c.350G>T (p.Cys117Phe)	472	ATM	Uncertain significance	1555059066	RCV000558857;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106415	108106415	11:g.108106415G>T	ClinGen:CA382524591	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.350G>A (p.Cys117Tyr)	472	ATM	Uncertain significance	1555059066	RCV000573866\|RCV001865701;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106415	108106415	NC_000011.9:g.108106415G>A	ClinGen:CA382524584	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.352C>T (p.Gln118Ter)	472	ATM	Pathogenic	2079235532	RCV001188236\|RCV001234774;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106417	108106417	11:g.108106417C>T	-
NM_000051.4(ATM):c.353A>G (p.Gln118Arg)	472	ATM	Uncertain significance	1555059070	RCV000627856;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106418	108106418	11:g.108106418A>G	ClinGen:CA382524626	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.354A>G (p.Gln118=)	472	ATM	Conflicting interpretations of pathogenicity	1188306380	RCV001288009\|RCV001432789\|RCV002339712;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106419	108106419	108106419	-
NM_000051.4(ATM):c.357dup (p.Leu120fs)	472	ATM	Pathogenic	1591474530	RCV000816239;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106420	108106421	11:g.108106420_108106421insA	-
NM_000051.4(ATM):c.356A>G (p.Glu119Gly)	472	ATM	Uncertain significance	-1	RCV003018505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106421	108106421	NC_000011.9:g.108106421A>G	-
NM_000051.4(ATM):c.359T>C (p.Leu120Pro)	472	ATM	Uncertain significance	1555059081	RCV000580759\|RCV001853853\|RCV002289849;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106424	108106424	NC_000011.9:g.108106424T>C	ClinGen:CA382524679	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.360C>G (p.Leu120=)	472	ATM	Likely benign	749489010	RCV000568698\|RCV001445952;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106425	108106425	11:g.108106425C>G	ClinGen:CA6264592	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.360C>T (p.Leu120=)	472	ATM	Likely benign	749489010	RCV000572144\|RCV002060449;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106425	108106425	11:g.108106425C>T	ClinGen:CA476670354	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.361T>A (p.Leu121Ile)	472	ATM	Uncertain significance	587782178	RCV000130797\|RCV000235623\|RCV000463681;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106426	108106426	11:g.108106426T>A	ClinGen:CA167127	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.361T>C (p.Leu121=)	472	ATM	Likely benign	587782178	RCV002182806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106426	108106426	108106426	-
NM_000051.4(ATM):c.362T>A (p.Leu121Ter)	472	ATM	Pathogenic	771342315	RCV000570543\|RCV001858239;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106427	108106427	11:g.108106427T>A	ClinGen:CA6264593	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.363A>C (p.Leu121Phe)	472	ATM	Uncertain significance	774555120	RCV001805297\|RCV001869534;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106428	108106428	108106428	-
NM_000051.4(ATM):c.365del (p.Asn122fs)	472	ATM	Pathogenic	-1	RCV003036076;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106428	108106428	NC_000011.9:g.108106430del	-
NM_000051.4(ATM):c.364A>G (p.Asn122Asp)	472	ATM	Uncertain significance	2079236749	RCV001345059;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106429	108106429	108106429	-
NM_000051.4(ATM):c.365A>C (p.Asn122Thr)	472	ATM	Uncertain significance	1060501596	RCV000471017\|RCV001020818;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106430	108106430	NC_000011.9:g.108106430A>C	ClinGen:CA16613235	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.365A>G (p.Asn122Ser)	472	ATM	Uncertain significance	1060501596	RCV001988658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106430	108106430	108106430	-
NM_000051.4(ATM):c.366T>C (p.Asn122=)	472	ATM	Likely benign	1178025248	RCV000568124\|RCV000628313;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106431	108106431	11:g.108106431T>C	ClinGen:CA476670357	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.368del (p.Tyr123fs)	472	ATM	Pathogenic	730881296	RCV000159625\|RCV000233291\|RCV000497265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108106433	108106433	NC_000011.9:g.108106433del	ClinGen:CA298010	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.368A>G (p.Tyr123Cys)	472	ATM	Uncertain significance	759673348	RCV000231087\|RCV001020886\|RCV001194303;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108106433	108106433	NC_000011.9:g.108106433A>G	ClinGen:CA6264595	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.370_374del (p.Ile124fs)	472	ATM	Pathogenic	2079237399	RCV001036625\|RCV003238830\|RCV003353115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106433	108106437	11:g.108106433_108106437del	-
NM_000051.4(ATM):c.370A>G (p.Ile124Val)	472	ATM	Conflicting interpretations of pathogenicity	148590073	RCV000115178\|RCV000122843\|RCV000254228\|RCV000679113\|RCV003315635;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106435	108106435	NC_000011.9:g.108106435A>G	ClinGen:CA286812	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.371T>C (p.Ile124Thr)	472	ATM	Uncertain significance	1555059132	RCV000544141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106436	108106436	NC_000011.9:g.108106436T>C	ClinGen:CA382524743	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.372C>A (p.Ile124=)	472	ATM	Benign/Likely benign	773495195	RCV000165346\|RCV000203984\|RCV001355423\|RCV001636702;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	11	108106437	108106437	11:g.108106437C>A	ClinGen:CA193147	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.372C>T (p.Ile124=)	472	ATM	Likely benign	773495195	RCV000550025\|RCV001191179;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106437	108106437	11:g.108106437C>T	ClinGen:CA476670359	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.373A>G (p.Met125Val)	472	ATM	Uncertain significance	761137313	RCV000165412\|RCV000707639\|RCV003468743;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106438	108106438	11:g.108106438A>G	ClinGen:CA193327	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.374T>C (p.Met125Thr)	472	ATM	Uncertain significance	2079237952	RCV001230063\|RCV002348775;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106439	108106439	11:g.108106439T>C	-
NM_000051.4(ATM):c.375G>A (p.Met125Ile)	472	ATM	Uncertain significance	1591474725	RCV001021068\|RCV001827201;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106440	108106440	11:g.108106440G>A	-
NM_000051.4(ATM):c.376G>T (p.Asp126Tyr)	472	ATM	Uncertain significance	2079238248	RCV001240631\|RCV002348819\|RCV003398998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	11	108106441	108106441	11:g.108106441G>T	-
NM_000051.4(ATM):c.377A>G (p.Asp126Gly)	472	ATM	Uncertain significance	-1	RCV002351133\|RCV003094364;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106442	108106442	108106442	-
NM_000051.4(ATM):c.377A>C (p.Asp126Ala)	472	ATM	Uncertain significance	-1	RCV003003226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106442	108106442	NC_000011.9:g.108106442A>C	-
NM_000051.4(ATM):c.378T>A (p.Asp126Glu)	472	ATM	Benign/Likely benign	2234997	RCV000116424\|RCV000130989\|RCV000383613\|RCV000710670\|RCV001354449\|RCV001798367\|RCV002225335\|RCV002498500\|RCV003315662;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C06	11	108106443	108106443	11:g.108106443T>A	ClinGen:CA151923,UniProtKB:Q13315#VAR_010799	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.378del (p.Asp126fs)	472	ATM	Pathogenic/Likely pathogenic	587781449	RCV000129372\|RCV000464543\|RCV000657371;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108106443	108106443	11:g.108106443_108106443del	ClinGen:CA164294	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.379A>G (p.Thr127Ala)	472	ATM	Uncertain significance	587781741	RCV000129945\|RCV000532542;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106444	108106444	11:g.108106444A>G	ClinGen:CA165392	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.379A>T (p.Thr127Ser)	472	ATM	Uncertain significance	587781741	RCV000165713\|RCV000462735\|RCV001582654\|RCV003235084\|RCV003462187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106444	108106444	11:g.108106444A>T	ClinGen:CA194049	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer)	472	ATM	Pathogenic/Likely pathogenic	587781831	RCV000130118\|RCV000478446\|RCV000627887\|RCV001262808\|RCV001258116;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108106446	108106446	11:g.108106446_108106446del	ClinGen:CA165729	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.381A>G (p.Thr127=)	472	ATM	Likely benign	762582522	RCV000222217\|RCV000433071\|RCV000476441;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106446	108106446	11:g.108106446A>G	ClinGen:CA6264596	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.381A>C (p.Thr127=)	472	ATM	Likely benign	-1	RCV002806611;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106446	108106446		-
NM_000051.4(ATM):c.382G>A (p.Val128Met)	472	ATM	Uncertain significance	587779835	RCV000115180\|RCV000476476\|RCV000566741;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106447	108106447	NC_000011.9:g.108106447G>A	ClinGen:CA286816	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.382G>C (p.Val128Leu)	472	ATM	Uncertain significance	587779835	RCV001205117\|RCV001177261;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106447	108106447	11:g.108106447G>C	-
NM_000051.4(ATM):c.382del (p.Thr127_Val128insTer)	472	ATM	Pathogenic	2135122447	RCV001927546\|RCV002359373\|RCV003471010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106447	108106447	108106446	-
NM_000051.4(ATM):c.382G>T (p.Val128Leu)	472	ATM	Uncertain significance	-1	RCV002304790;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106447	108106447	108106447	-
NM_000051.4(ATM):c.384G>C (p.Val128=)	472	ATM	Likely benign	1555059177	RCV000553198;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106449	108106449	11:g.108106449G>C	ClinGen:CA476670364	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.384G>A (p.Val128=)	472	ATM	Likely benign	1555059177	RCV001479401;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106449	108106449	108106449	-
NM_000051.4(ATM):c.387del (p.Asp130fs)	472	ATM	Pathogenic/Likely pathogenic	745642834	RCV000255124\|RCV000580692\|RCV001206728\|RCV003469205;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106450	108106450	11:g.108106450_108106450del	ClinGen:CA6264597	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.385A>C (p.Lys129Gln)	472	ATM	Uncertain significance	2079239070	RCV001206671\|RCV002356884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106450	108106450	11:g.108106450A>C	-
NM_000051.4(ATM):c.386A>G (p.Lys129Arg)	472	ATM	Uncertain significance	2135122598	RCV001936329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106451	108106451	108106451	-
NM_000051.4(ATM):c.389A>G (p.Asp130Gly)	472	ATM	Uncertain significance	766034066	RCV000457000\|RCV000572205;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106454	108106454	NC_000011.9:g.108106454A>G	ClinGen:CA6264598	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.391dup (p.Ser131fs)	472	ATM	Pathogenic	2079239543	RCV001243593;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106454	108106455	11:g.108106454_108106455insT	-
NM_000051.4(ATM):c.390T>G (p.Asp130Glu)	472	ATM	Uncertain significance	1565356801	RCV000803383\|RCV001766667\|RCV002370131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106455	108106455	11:g.108106455T>G	-
NM_000051.4(ATM):c.390T>A (p.Asp130Glu)	472	ATM	Uncertain significance	1565356801	RCV001211686\|RCV002375165\|RCV003225159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108106455	108106455	11:g.108106455T>A	-
NM_000051.4(ATM):c.392C>A (p.Ser131Ter)	472	ATM	Pathogenic	1363726955	RCV000565303\|RCV002528971;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106457	108106457	NC_000011.9:g.108106457C>A	ClinGen:CA382524896	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.392C>G (p.Ser131Ter)	472	ATM	Pathogenic/Likely pathogenic	1363726955	RCV000657718\|RCV001054804\|RCV001021461\|RCV003465428;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106457	108106457	11:g.108106457C>G	-	CN517202 not provided;
NM_000051.4(ATM):c.394T>C (p.Ser132Pro)	472	ATM	Uncertain significance	786203851	RCV000167338\|RCV000701154\|RCV003468808;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106459	108106459	11:g.108106459T>C	ClinGen:CA198041	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.395C>T (p.Ser132Phe)	472	ATM	Uncertain significance	750969764	RCV000218402\|RCV000679114\|RCV000705567;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106460	108106460	11:g.108106460C>T	ClinGen:CA6264599	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.395C>G (p.Ser132Cys)	472	ATM	Uncertain significance	750969764	RCV001021523\|RCV001207758\|RCV003467662;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106460	108106460	11:g.108106460C>G	-
NM_000051.4(ATM):c.395C>A (p.Ser132Tyr)	472	ATM	Uncertain significance	750969764	RCV001933365;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106460	108106460	108106460	-
NM_000051.4(ATM):c.397A>G (p.Asn133Asp)	472	ATM	Uncertain significance	1565356855	RCV000698522\|RCV002352172;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106462	108106462	11:g.108106462A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.398A>T (p.Asn133Ile)	472	ATM	Conflicting interpretations of pathogenicity	730881330	RCV000159666\|RCV000543356\|RCV001021590\|RCV001193630;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108106463	108106463	NC_000011.9:g.108106463A>T	ClinGen:CA298093	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.398A>G (p.Asn133Ser)	472	ATM	Conflicting interpretations of pathogenicity	730881330	RCV000575108\|RCV001348023;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106463	108106463	NC_000011.9:g.108106463A>G	ClinGen:CA382524935	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.399T>A (p.Asn133Lys)	472	ATM	Uncertain significance	1555059218	RCV000563963\|RCV001549983\|RCV001858069;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106464	108106464	NC_000011.9:g.108106464T>A	ClinGen:CA382524952	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.399T>G (p.Asn133Lys)	472	ATM	Uncertain significance	-1	RCV002295964\|RCV002373086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106464	108106464	108106464	-
NM_000051.4(ATM):c.399T>C (p.Asn133=)	472	ATM	Likely benign	-1	RCV002357790\|RCV003094477;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106464	108106464		-
NM_000051.4(ATM):c.400G>A (p.Gly134Ser)	472	ATM	Uncertain significance	2234998	RCV000120157\|RCV000476735\|RCV000571088\|RCV000764934\|RCV003467070;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108106465	108106465	11:g.108106465G>A	ClinGen:CA157168	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.401G>A (p.Gly134Asp)	472	ATM	Uncertain significance	771166271	RCV000165609\|RCV000198685\|RCV001589034\|RCV003462181;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106466	108106466	11:g.108106466G>A	ClinGen:CA193810	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.401G>T (p.Gly134Val)	472	ATM	Uncertain significance	771166271	RCV001804280\|RCV001869503;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106466	108106466	108106466	-
NM_000051.4(ATM):c.402T>G (p.Gly134=)	472	ATM	Likely benign	2135123141	RCV001471815;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106467	108106467	108106467	-
NM_000051.4(ATM):c.403G>A (p.Ala135Thr)	472	ATM	Uncertain significance	1272089657	RCV000581068\|RCV000627839;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106468	108106468	NC_000011.9:g.108106468G>A	ClinGen:CA382524972	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.403G>T (p.Ala135Ser)	472	ATM	Uncertain significance	1272089657	RCV001306404;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106468	108106468	108106468	-
NM_000051.4(ATM):c.403del (p.Ala135fs)	472	ATM	Pathogenic	2135123204	RCV001945883;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106468	108106468	108106467	-
NM_000051.4(ATM):c.404C>G (p.Ala135Gly)	472	ATM	Uncertain significance	1555059254	RCV000627915\|RCV001021746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106469	108106469	NC_000011.9:g.108106469C>G	ClinGen:CA382524996	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.404C>T (p.Ala135Val)	472	ATM	Uncertain significance	1555059254	RCV000812151;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106469	108106469	11:g.108106469C>T	-
NM_000051.4(ATM):c.405T>G (p.Ala135=)	472	ATM	Likely benign	2135123254	RCV001448950\|RCV002322486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106470	108106470	108106470	-
NM_000051.4(ATM):c.406A>G (p.Ile136Val)	472	ATM	Conflicting interpretations of pathogenicity	780941782	RCV001363853\|RCV002322336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106471	108106471	108106471	-
NM_000051.4(ATM):c.408T>A (p.Ile136=)	472	ATM	Likely benign	2135123307	RCV001402212\|RCV001685353\|RCV002322394;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106473	108106473	108106473	-
NM_000051.4(ATM):c.409T>G (p.Tyr137Asp)	472	ATM	Uncertain significance	786204177	RCV000168215;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106474	108106474	11:g.108106474T>G	ClinGen:CA334441	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.410A>T (p.Tyr137Phe)	472	ATM	Uncertain significance	547082881	RCV000573347\|RCV001858162;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106475	108106475	NC_000011.9:g.108106475A>T	ClinGen:CA6264601	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.411C>T (p.Tyr137=)	472	ATM	Conflicting interpretations of pathogenicity	756160533	RCV000162797\|RCV000272976\|RCV001721030\|RCV002222414;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108106476	108106476	11:g.108106476C>T	ClinGen:CA186984	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.411C>A (p.Tyr137Ter)	472	ATM	Pathogenic	756160533	RCV001021902\|RCV001356735\|RCV001390152;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0002032,MedGen:C0699790\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106476	108106476	11:g.108106476C>A	-
NM_000051.4(ATM):c.412G>A (p.Gly138Arg)	472	ATM	Uncertain significance	150661813	RCV000627866\|RCV001021921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106477	108106477	11:g.108106477G>A	ClinGen:CA6264602	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.412G>C (p.Gly138Arg)	472	ATM	Uncertain significance	150661813	RCV001344942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106477	108106477	108106477	-
NM_000051.4(ATM):c.413G>C (p.Gly138Ala)	472	ATM	Uncertain significance	2135123439	RCV001881973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106478	108106478	108106478	-
NM_000051.4(ATM):c.415G>T (p.Ala139Ser)	472	ATM	Uncertain significance	1555059288	RCV000540023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106480	108106480	NC_000011.9:g.108106480G>T	ClinGen:CA382525068	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.418G>C (p.Asp140His)	472	ATM	Uncertain significance	55633650	RCV000544410\|RCV001022013\|RCV003148772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108106483	108106483	11:g.108106483G>C	ClinGen:CA6264603	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.420T>A (p.Asp140Glu)	472	ATM	Uncertain significance	1591475108	RCV001022063\|RCV001205023;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106485	108106485	11:g.108106485T>A	-
NM_000051.4(ATM):c.420T>C (p.Asp140=)	472	ATM	Likely benign	1591475108	RCV002074615\|RCV003307981;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106485	108106485	108106485	-
NM_000051.4(ATM):c.421T>G (p.Cys141Gly)	472	ATM	Uncertain significance	1565357020	RCV000695579\|RCV001022080\|RCV001288011;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108106486	108106486	11:g.108106486T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.422dup (p.Cys141fs)	472	ATM	Pathogenic	2079242252	RCV001060569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106486	108106487	11:g.108106486_108106487insG	-
NM_000051.4(ATM):c.422G>A (p.Cys141Tyr)	472	ATM	Conflicting interpretations of pathogenicity	745890227	RCV000567429\|RCV001045775\|RCV003324770;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108106487	108106487	NC_000011.9:g.108106487G>A	ClinGen:CA6264606	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.425G>A (p.Ser142Asn)	472	ATM	Uncertain significance	755618506	RCV000545301\|RCV000568408\|RCV002244995\|RCV003470669;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106490	108106490	NC_000011.9:g.108106490G>A	ClinGen:CA228374844	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.427A>G (p.Asn143Asp)	472	ATM	Uncertain significance	587781688	RCV000129853\|RCV000481981\|RCV000703116;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106492	108106492	11:g.108106492A>G	ClinGen:CA165221	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.428A>G (p.Asn143Ser)	472	ATM	Uncertain significance	1565357066	RCV000706026\|RCV002332506;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106493	108106493	11:g.108106493A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.429C>T (p.Asn143=)	472	ATM	Likely benign	1416280463	RCV000546239;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106494	108106494	11:g.108106494C>T	ClinGen:CA476670393	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.430A>G (p.Ile144Val)	472	ATM	Uncertain significance	1555059323	RCV000535806\|RCV001186966;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106495	108106495	11:g.108106495A>G	ClinGen:CA382525196	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.432ACT[3] (p.Leu146dup)	472	ATM	Uncertain significance	2135124161	RCV001954144;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106495	108106496	108106495	-
NM_000051.4(ATM):c.432dup (p.Leu145fs)	472	ATM	Pathogenic/Likely pathogenic	1555059330	RCV000657200\|RCV001063320;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106496	108106497	11:g.108106496_108106497insA	-	CN517202 not provided;
NM_000051.4(ATM):c.431T>G (p.Ile144Arg)	472	ATM	Uncertain significance	2135124131	RCV001902719;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106496	108106496	108106496	-
NM_000051.4(ATM):c.432del (p.Leu145fs)	472	ATM	Pathogenic	1555059333	RCV000536697;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106497	108106497	11:g.108106497_108106497del	ClinGen:CA658656154	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.432A>G (p.Ile144Met)	472	ATM	Uncertain significance	772173522	RCV000791925\|RCV002332580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106497	108106497	11:g.108106497A>G	-
NM_000051.4(ATM):c.432A>T (p.Ile144=)	472	ATM	Likely benign	-1	RCV002872071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106497	108106497		-
NM_000051.4(ATM):c.433C>T (p.Leu145=)	472	ATM	Likely benign	587782328	RCV000607671\|RCV001022318\|RCV001438135;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106498	108106498	11:g.108106498C>T	ClinGen:CA476670396	CN169374 not specified;
NM_000051.4(ATM):c.434T>G (p.Leu145Arg)	472	ATM	Conflicting interpretations of pathogenicity	1555059346	RCV000525165\|RCV003278875;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106499	108106499	11:g.108106499T>G	ClinGen:CA382525216	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.434T>A (p.Leu145Gln)	472	ATM	Uncertain significance	1555059346	RCV001872765;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106499	108106499	108106499	-
NM_000051.4(ATM):c.435A>G (p.Leu145=)	472	ATM	Likely benign	775476710	RCV000561497\|RCV002530245;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106500	108106500	11:g.108106500A>G	ClinGen:CA6264608	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.435A>C (p.Leu145=)	472	ATM	Likely benign	775476710	RCV002088288;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106500	108106500	108106500	-
NM_000051.4(ATM):c.436C>T (p.Leu146Phe)	472	ATM	Uncertain significance	2135124363	RCV002029415;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106501	108106501	108106501	-
NM_000051.4(ATM):c.437_441delinsACAAT (p.Leu146_Lys147delinsHisAsn)	472	ATM	Uncertain significance	1555059356	RCV000628027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106502	108106506	NC_000011.9:g.108106502_108106506delinsACAAT	ClinGen:CA658797776	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.441dup (p.Asp148fs)	472	ATM	Pathogenic	1427164968	RCV000566868\|RCV001047645;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106503	108106504	11:g.108106503_108106504insA	ClinGen:CA658656155	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.438C>G (p.Leu146=)	472	ATM	Likely benign	1591475272	RCV001447932\|RCV003353090;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106503	108106503	11:g.108106503C>G	-
NM_000051.4(ATM):c.438C>T (p.Leu146=)	472	ATM	Likely benign	1591475272	RCV002219567;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106503	108106503	108106503	-
NM_000051.4(ATM):c.440_443dup (p.Asp148fs)	472	ATM	Pathogenic	-1	RCV003017101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106503	108106504	NC_000011.9:g.108106505_108106508dup	-
NM_000051.4(ATM):c.439A>G (p.Lys147Glu)	472	ATM	Uncertain significance	587782509	RCV000131655\|RCV001064963\|RCV003467179;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106504	108106504	11:g.108106504A>G	ClinGen:CA168545	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.441A>G (p.Lys147=)	472	ATM	Likely benign	1555059372	RCV000628236;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106506	108106506	11:g.108106506A>G	ClinGen:CA476670403	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.442G>C (p.Asp148His)	472	ATM	Uncertain significance	2135124628	RCV001884108;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106507	108106507	108106507	-
NM_000051.4(ATM):c.443A>G (p.Asp148Gly)	472	ATM	Uncertain significance	-1	RCV003052556;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106508	108106508	NC_000011.9:g.108106508A>G	-
NM_000051.4(ATM):c.444_450del (p.Ile149fs)	472	ATM	Pathogenic	2079244120	RCV001209254;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106509	108106515	11:g.108106509_108106515del	-
NM_000051.4(ATM):c.445A>G (p.Ile149Val)	472	ATM	Uncertain significance	1565357194	RCV000696883\|RCV001022509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106510	108106510	11:g.108106510A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.445A>T (p.Ile149Phe)	472	ATM	Uncertain significance	1565357194	RCV000773997\|RCV001302366\|RCV003465696;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106510	108106510	NC_000011.9:g.108106510A>T	-
NM_000051.4(ATM):c.446T>A (p.Ile149Asn)	472	ATM	Uncertain significance	587782353	RCV000131297\|RCV001857458;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106511	108106511	11:g.108106511T>A	ClinGen:CA167934	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.450_453del (p.Leu150_Ser151insTer)	472	ATM	Pathogenic	771936821	RCV000583880\|RCV000707401\|RCV001093020\|RCV003159977;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108106511	108106514	11:g.108106511_108106514del	ClinGen:CA6264609	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.448C>T (p.Leu150Phe)	472	ATM	Uncertain significance	1555059404	RCV001976293;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106513	108106513	108106513	-
NM_000051.4(ATM):c.449T>C (p.Leu150Pro)	472	ATM	Uncertain significance	2079244605	RCV001220209;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106514	108106514	11:g.108106514T>C	-
NM_000051.4(ATM):c.450T>A (p.Leu150=)	472	ATM	Likely benign	1168425290	RCV001417233\|RCV002341906;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106515	108106515	108106515	-
NM_000051.4(ATM):c.451T>C (p.Ser151Pro)	472	ATM	Uncertain significance	1565357241	RCV000694645\|RCV002334308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106516	108106516	11:g.108106516T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.451_452insSVAelement	472	ATM	Pathogenic	2079244988	RCV001089792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106516	108106517	-1	-
NM_000051.4(ATM):c.452C>T (p.Ser151Phe)	472	ATM	Uncertain significance	1565357249	RCV000772585\|RCV000795340;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106517	108106517	NC_000011.9:g.108106517C>T	-
NM_000051.4(ATM):c.452C>G (p.Ser151Cys)	472	ATM	Uncertain significance	1565357249	RCV001360502;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106517	108106517	108106517	-
NM_000051.4(ATM):c.453T>C (p.Ser151=)	472	ATM	Likely benign	2135125035	RCV001445912;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106518	108106518	108106518	-
NM_000051.4(ATM):c.456G>T (p.Val152=)	472	ATM	Likely benign	1555059433	RCV000572522\|RCV001500810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106521	108106521	11:g.108106521G>T	ClinGen:CA476670414	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.457A>G (p.Arg153Gly)	472	ATM	Uncertain significance	1555059438	RCV000558034;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106522	108106522	11:g.108106522A>G	ClinGen:CA382525412	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.459A>G (p.Arg153=)	472	ATM	Likely benign	2135125274	RCV001425754;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106524	108106524	108106524	-
NM_000051.4(ATM):c.462A>G (p.Lys154=)	472	ATM	Likely benign	876659923	RCV000220478\|RCV000917968;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106527	108106527	11:g.108106527A>G	ClinGen:CA10578957	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.465_479del (p.Trp156_Ser160del)	472	ATM	Uncertain significance	2079245695	RCV001245015;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106530	108106544	11:g.108106530_108106544del	-
NM_000051.4(ATM):c.467G>A (p.Trp156Ter)	472	ATM	Pathogenic	876658159	RCV000784892\|RCV001805849;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106532	108106532	11:g.108106532G>A	-
NM_000051.4(ATM):c.468del (p.Trp156fs)	472	ATM	Pathogenic	2079245902	RCV001211779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106532	108106532	11:g.108106532_108106532del	-
NM_000051.4(ATM):c.468G>A (p.Trp156Ter)	472	ATM	Pathogenic	1591475457	RCV001022900\|RCV001543537\|RCV001862238;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106533	108106533	11:g.108106533G>A	-
NM_000051.4(ATM):c.469T>G (p.Cys157Gly)	472	ATM	Uncertain significance	1248850168	RCV000562328\|RCV000795181\|RCV002255462;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108106534	108106534	NC_000011.9:g.108106534T>G	ClinGen:CA382525522	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.471T>A (p.Cys157Ter)	472	ATM	Pathogenic/Likely pathogenic	1555059459	RCV000584528\|RCV002497227;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106536	108106536	NC_000011.9:g.108106536T>A	ClinGen:CA382525531	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.475del (p.Ile159fs)	472	ATM	Pathogenic	1555059464	RCV000572865\|RCV001387863\|RCV003155953;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106538	108106538	NC_000011.9:g.108106540del	ClinGen:CA658656161	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.475A>G (p.Ile159Val)	472	ATM	Uncertain significance	1565357315	RCV000690100\|RCV003465575;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106540	108106540	11:g.108106540A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.475A>C (p.Ile159Leu)	472	ATM	Uncertain significance	1565357315	RCV001914670;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106540	108106540	108106540	-
NM_000051.4(ATM):c.477A>G (p.Ile159Met)	472	ATM	Uncertain significance	786202644	RCV000165553\|RCV001850320;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106542	108106542	11:g.108106542A>G	ClinGen:CA193673	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.478_482del (p.Ser160fs)	472	ATM	Pathogenic/Likely pathogenic	587780624	RCV000122852\|RCV000164941\|RCV000484842\|RCV003462157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106542	108106546	11:g.108106542_108106546del	ClinGen:CA192140	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.478T>G (p.Ser160Ala)	472	ATM	Uncertain significance	761170769	RCV000773839\|RCV001856070;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106543	108106543	NC_000011.9:g.108106543T>G	-
NM_000051.4(ATM):c.478T>C (p.Ser160Pro)	472	ATM	Uncertain significance	761170769	RCV000813036\|RCV001023049\|RCV001355011\|RCV003461214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0002032,MedGen:C0699790\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106543	108106543	11:g.108106543T>C	-
NM_000051.4(ATM):c.479C>T (p.Ser160Phe)	472	ATM	Uncertain significance	35858242	RCV000222468\|RCV001364967;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106544	108106544	11:g.108106544C>T	ClinGen:CA10578959	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.480T>C (p.Ser160=)	472	ATM	Likely benign	2135125892	RCV001445979;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106545	108106545	108106545	-
NM_000051.4(ATM):c.480T>A (p.Ser160=)	472	ATM	Likely benign	2135125892	RCV001475299;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106545	108106545	108106545	-
NM_000051.4(ATM):c.482A>C (p.Gln161Pro)	472	ATM	Conflicting interpretations of pathogenicity	587780625	RCV000122853\|RCV000219862\|RCV000436828;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108106547	108106547	NC_000011.9:g.108106547A>C	ClinGen:CA332336	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.482A>G (p.Gln161Arg)	472	ATM	Uncertain significance	587780625	RCV001023118\|RCV001340960\|RCV003442149;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108106547	108106547	11:g.108106547A>G	-
NM_000051.4(ATM):c.483G>C (p.Gln161His)	472	ATM	Uncertain significance	864622742	RCV000206014\|RCV000481479\|RCV002327068;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106548	108106548	11:g.108106548G>C	ClinGen:CA350088	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.483G>A (p.Gln161=)	472	ATM	Likely benign	864622742	RCV000582637\|RCV000874455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106548	108106548	NC_000011.9:g.108106548G>A	ClinGen:CA476670427	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.483G>T (p.Gln161His)	472	ATM	Uncertain significance	864622742	RCV001326919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106548	108106548	108106548	-
NM_000051.4(ATM):c.484C>T (p.Gln162Ter)	472	ATM	Pathogenic	1565357383	RCV000685533\|RCV001093021\|RCV003465556;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106549	108106549	11:g.108106549C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.486del (p.Gln162fs)	472	ATM	Pathogenic	2079247626	RCV001223590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106550	108106550	11:g.108106550_108106550del	-
NM_000051.4(ATM):c.485A>G (p.Gln162Arg)	472	ATM	Uncertain significance	1285593159	RCV001369411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106550	108106550	108106550	-
NM_000051.4(ATM):c.487C>T (p.Gln163Ter)	472	ATM	Pathogenic	1591475608	RCV001023192\|RCV001042999\|RCV003467674;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106552	108106552	11:g.108106552C>T	-
NM_000051.4(ATM):c.488A>G (p.Gln163Arg)	472	ATM	Uncertain significance	876660598	RCV000222208\|RCV000818786\|RCV003226257;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108106553	108106553	11:g.108106553A>G	ClinGen:CA10578960	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.489G>A (p.Gln163=)	472	ATM	Conflicting interpretations of pathogenicity	1057523087	RCV000528589\|RCV000575735\|RCV001698214\|RCV003235213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108106554	108106554	11:g.108106554G>A	ClinGen:CA16605755	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.489G>C (p.Gln163His)	472	ATM	Uncertain significance	1057523087	RCV001176678\|RCV001327439;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106554	108106554	11:g.108106554G>C	-
NM_000051.4(ATM):c.489G>T (p.Gln163His)	472	ATM	Uncertain significance	1057523087	RCV001280644\|RCV001871614;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106554	108106554	11:g.108106554G>T	-
NM_000051.4(ATM):c.490T>C (p.Trp164Arg)	472	ATM	Uncertain significance	1060501699	RCV000468398\|RCV000583286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106555	108106555	NC_000011.9:g.108106555T>C	ClinGen:CA16613241	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.492dup (p.Leu165fs)	472	ATM	Pathogenic	1555059513	RCV000545412;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106555	108106556	11:g.108106555_108106556insG	ClinGen:CA658656164	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.495_496+16del	472	ATM	Pathogenic/Likely pathogenic	1555059522	RCV000576471\|RCV001191912;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108106556	108106573	NC_000011.9:g.108106560_108106577del	ClinGen:CA658656163	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.491G>A (p.Trp164Ter)	472	ATM	Pathogenic	-1	RCV002917982;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106556	108106556	NC_000011.9:g.108106556G>A	-
NM_000051.4(ATM):c.492G>T (p.Trp164Cys)	472	ATM	Uncertain significance	1555059530	RCV000529313\|RCV001182716\|RCV001253019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106557	108106557	NC_000011.9:g.108106557G>T	ClinGen:CA382525757	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.492G>A (p.Trp164Ter)	472	ATM	Pathogenic	1555059530	RCV001908978\|RCV003395273;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108106557	108106557	108106557	-
NM_000051.4(ATM):c.493T>C (p.Leu165=)	472	ATM	Likely benign	878853514	RCV000574128\|RCV000829165\|RCV001079042;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106558	108106558	11:g.108106558T>C	ClinGen:CA10582787	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.493T>G (p.Leu165Val)	472	ATM	Uncertain significance	878853514	RCV000801155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106558	108106558	11:g.108106558T>G	-
NM_000051.4(ATM):c.493T>A (p.Leu165Ile)	472	ATM	Uncertain significance	878853514	RCV001072033;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106558	108106558	11:g.108106558T>A	-
NM_000051.4(ATM):c.494T>G (p.Leu165Ter)	472	ATM	Pathogenic	2079249238	RCV001244288;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106559	108106559	11:g.108106559T>G	-
NM_000051.4(ATM):c.495dup (p.Glu166fs)	472	ATM	Pathogenic	-1	RCV002858356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106559	108106560	NC_000011.9:g.108106560dup	-
NM_000051.4(ATM):c.496G>T (p.Glu166Ter)	472	ATM	Pathogenic/Likely pathogenic	1565357473	RCV000687441\|RCV003459673;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108106561	108106561	11:g.108106561G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.496G>C (p.Glu166Gln)	472	ATM	Pathogenic	1565357473	RCV000852350;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106561	108106561	11:g.108106561G>C	-
NM_000051.4(ATM):c.496G>A (p.Glu166Lys)	472	ATM	Uncertain significance	1565357473	RCV001023344\|RCV001056172;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106561	108106561	11:g.108106561G>A	-
NM_000051.4(ATM):c.496+1G>A	472	ATM	Likely pathogenic	876658500	RCV000220072\|RCV001379244;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106562	108106562	11:g.108106562G>A	ClinGen:CA10578961	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.496+1G>C	472	ATM	Likely pathogenic	876658500	RCV001191012\|RCV001377590;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106562	108106562	11:g.108106562G>C	-
NM_000051.4(ATM):c.496+2T>G	472	ATM	Likely pathogenic	2079249834	RCV001223507;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106563	108106563	11:g.108106563T>G	-
NM_000051.4(ATM):c.496+3A>G	472	ATM	Conflicting interpretations of pathogenicity	876658311	RCV000222498\|RCV000546346\|RCV000509292\|RCV001420751\|RCV001535556\|RCV003468991;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108106564	108106564	11:g.108106564A>G	ClinGen:CA10578962	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.496+4T>C	472	ATM	Conflicting interpretations of pathogenicity	587781375	RCV000129193\|RCV000211949\|RCV000474202\|RCV000585055\|RCV001357828;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	11	108106565	108106565	11:g.108106565T>C	ClinGen:CA294004	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.496+4T>G	472	ATM	Conflicting interpretations of pathogenicity	587781375	RCV000561000\|RCV000613919\|RCV001063793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106565	108106565	NC_000011.9:g.108106565T>G	ClinGen:CA382525828	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.496+5G>A	472	ATM	Pathogenic/Likely pathogenic	796051858	RCV000003188\|RCV000213739\|RCV000235952\|RCV000558736\|RCV001249854\|RCV003466791;	N	MONDO:MONDO:0018266,MedGen:C1876175, Orphanet:370109\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108106566	108106566	NC_000011.9:g.108106566G>A	ClinGen:CA115952,OMIM:607585.0031	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.496+7T>G	472	ATM	Likely benign	2135126753	RCV002210505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106568	108106568	108106568	-
NM_000051.4(ATM):c.496+9T>G	472	ATM	Likely benign	2135126833	RCV001442504;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106570	108106570	108106570	-
NM_000051.4(ATM):c.496+11A>C	472	ATM	Likely benign	-1	RCV002872372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106572	108106572	NC_000011.9:g.108106572A>C	-
NM_000051.4(ATM):c.496+14G>C	472	ATM	Likely benign	776887214	RCV000432138\|RCV002061613;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106575	108106575	11:g.108106575G>C	ClinGen:CA16606144	CN169374 not specified;
NM_000051.4(ATM):c.496+14GTT[2]	472	ATM	Likely benign	1330640039	RCV001180646\|RCV002067910\|RCV002225805;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108106575	108106577	11:g.108106575_108106577del	-
NM_000051.4(ATM):c.496+16T>G	472	ATM	Likely benign	776924718	RCV001805560\|RCV002074201;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106577	108106577	108106577	-
NM_000051.4(ATM):c.496+18T>C	472	ATM	Likely benign	762171014	RCV000440879\|RCV000580801\|RCV000679124\|RCV002061331;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106579	108106579	11:g.108106579T>C	ClinGen:CA6264613	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.496+18T>A	472	ATM	Benign/Likely benign	762171014	RCV000583107\|RCV000608316\|RCV002060605;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106579	108106579	11:g.108106579T>A	ClinGen:CA6264612	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.496+20G>C	472	ATM	Benign/Likely benign	751245102	RCV000584579\|RCV000679125\|RCV002060606;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106581	108106581	11:g.108106581G>C	ClinGen:CA6264614	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.496+20G>T	472	ATM	Likely benign	751245102	RCV002211605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108106581	108106581	108106581	-
NC_000011.9:g.(?_108111148)_(108117795_?)del	472	ATM	Pathogenic	-1	RCV001941873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108111148	108117795	-1	-
NM_000051.4(ATM):c.497-3528_663-121del	472	ATM	Pathogenic	-1	RCV001194627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108111150	108115392	NC_000011.9:g.108111152_108115394del	-
NC_000011.9:g.(?_108114117)_(108115618_?)del	472	ATM	Likely pathogenic	-1	RCV003119176;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114117	108115618		-
NC_000011.9:g.(?_108114660)_(108236235_?)del	472	ATM	Pathogenic	-1	RCV001381795;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114660	108236235	-1	-
NC_000011.9:g.(?_108114660)_(108181062_?)del	472	ATM	Pathogenic	-1	RCV003119166;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114660	108181062		-
NM_000051.4(ATM):c.497-4dup	472	ATM	Benign/Likely benign	768748099	RCV000162585\|RCV000669130\|RCV001610469\|RCV001699137;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108114661	108114662	11:g.108114661_108114662insT	ClinGen:CA186517	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108114662)_(108114855_?)del	472	ATM	Pathogenic	-1	RCV001951422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114662	108114855	-1	-
NC_000011.9:g.(?_108114662)_(108115763_?)del	472	ATM	Pathogenic	-1	RCV003119167;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114662	108115763		-
NM_000051.4(ATM):c.497-14_497-13insC	472	ATM	Likely benign	776788385	RCV000583527\|RCV002060607;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114666	108114667	11:g.108114666_108114667insC	ClinGen:CA6264622	C0027672 Hereditary cancer-predisposing syndrome;
NC_000011.10:g.(?_108243943)_(108365518_?)del	472	ATM	Pathogenic	-1	RCV000707950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114670	108236245		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108114670)_(108225611_?)dup	472	ATM	Likely pathogenic	-1	RCV000815276;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114670	108225611		-
NC_000011.10:g.(?_108243943)_(108249112_?)del	472	ATM	Likely pathogenic	-1	RCV001032424;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114670	108119839	-1	-
NC_000011.9:g.(?_108114670)_(108164214_?)del	472	ATM	Pathogenic	-1	RCV001381794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114670	108164214	-1	-
NC_000011.9:g.(?_108114670)_(108236235_?)dup	472	ATM	Uncertain significance	-1	RCV003119172;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114670	108236235		-
NM_000051.4(ATM):c.497-9T>G	472	ATM	Conflicting interpretations of pathogenicity	2079693632	RCV001178144\|RCV002068215;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114671	108114671	11:g.108114671T>G	-
NM_000051.4(ATM):c.497-7T>G	472	ATM	Likely benign	-1	RCV002991403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114673	108114673	NC_000011.9:g.108114673T>G	-
NC_000011.9:g.(?_108114674)_(108225607_?)dup	472	ATM	Likely pathogenic	-1	RCV000708129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114674	108225607		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.497-5T>C	472	ATM	Likely benign	1591499452	RCV000800710;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114675	108114675	11:g.108114675T>C	-
NM_000051.4(ATM):c.497-5T>A	472	ATM	Uncertain significance	-1	RCV003044584;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114675	108114675	NC_000011.9:g.108114675T>A	-
NM_000051.4(ATM):c.497-4T>A	472	ATM	Conflicting interpretations of pathogenicity	876659621	RCV000221208\|RCV000543862\|RCV002054980;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108114676	108114676	11:g.108114676T>A	ClinGen:CA10578963	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.497-4T>G	472	ATM	Likely benign	876659621	RCV001496822\|RCV002334540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114676	108114676	108114676	-
NM_000051.4(ATM):c.497-3A>G	472	ATM	Uncertain significance	1046559213	RCV000582416\|RCV001860066;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114677	108114677	NC_000011.9:g.108114677A>G	ClinGen:CA228383706	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.497-3_498del	472	ATM	Uncertain significance	1205233530	RCV000988638;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114677	108114681	11:g.108114677_108114681del	-
NM_000051.4(ATM):c.497-2_498del	472	ATM	Uncertain significance	1591499502	RCV000988637;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114677	108114680	11:g.108114677_108114680del	-
NM_000051.4(ATM):c.497-2A>T	472	ATM	Uncertain significance	1278985870	RCV000988639;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114678	108114678	11:g.108114678A>T	-
NM_000051.4(ATM):c.497-2A>G	472	ATM	Likely pathogenic	-1	RCV002666548;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114678	108114678	NC_000011.9:g.108114678A>G	-
NM_000051.4(ATM):c.497-1G>A	472	ATM	Likely pathogenic	778624615	RCV001865311;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114679	108114679	11:g.108114679G>A	ClinGen:CA6264624,ClinVar:424841	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.497-1G>C	472	ATM	Likely pathogenic	778624615	RCV000687478\|RCV001176630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114679	108114679	11:g.108114679G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.497-1G>T	472	ATM	Conflicting interpretations of pathogenicity	778624615	RCV000988640\|RCV001805955\|RCV003467549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114679	108114679	11:g.108114679G>T	-
NM_000051.4(ATM):c.497A>T (p.Glu166Val)	472	ATM	Uncertain significance	863224573	RCV000196563\|RCV001023356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114680	108114680	11:g.108114680A>T	ClinGen:CA336524	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108243953)_(108369099_?)del	472	ATM	Pathogenic	-1	RCV000468383;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114680	108239826		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.497A>G (p.Glu166Gly)	472	ATM	Uncertain significance	863224573	RCV000797399\|RCV001023355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114680	108114680	11:g.108114680A>G	-
NM_000051.4(ATM):c.498A>C (p.Glu166Asp)	472	ATM	Uncertain significance	587779842	RCV000115201\|RCV001854547;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114681	108114681	NC_000011.9:g.108114681A>C	ClinGen:CA286864	CN169374 not specified;
NM_000051.4(ATM):c.498A>T (p.Glu166Asp)	472	ATM	Uncertain significance	587779842	RCV000569717\|RCV000627997\|RCV003459313;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114681	108114681	NC_000011.9:g.108114681A>T	ClinGen:CA6264625	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.498A>G (p.Glu166=)	472	ATM	Conflicting interpretations of pathogenicity	587779842	RCV000628218\|RCV002334042;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114681	108114681	NC_000011.9:g.108114681A>G	ClinGen:CA476671359	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.501_503del (p.Leu167del)	472	ATM	Uncertain significance	1555066242	RCV000525276;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114682	108114684	11:g.108114682_108114684del	ClinGen:CA658656168	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.499T>C (p.Leu167=)	472	ATM	Likely benign	2135221733	RCV001411605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114682	108114682	108114682	-
NM_000051.4(ATM):c.501G>A (p.Leu167=)	472	ATM	Likely benign	1181703620	RCV000563353\|RCV001441288;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114684	108114684	NC_000011.9:g.108114684G>A	ClinGen:CA476671363	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.501G>T (p.Leu167Phe)	472	ATM	Uncertain significance	1181703620	RCV000988641\|RCV001574047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108114684	108114684	11:g.108114684G>T	-
NM_000051.4(ATM):c.502T>C (p.Phe168Leu)	472	ATM	Uncertain significance	1565369177	RCV000757012\|RCV000810049\|RCV001805837;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114685	108114685	NC_000011.9:g.108114685T>C	-
NM_000051.4(ATM):c.505_516del (p.Ser169_Phe172del)	472	ATM	Uncertain significance	2135221888	RCV001878976;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114685	108114696	108114684	-
NM_000051.4(ATM):c.503del (p.Phe168fs)	472	ATM	Pathogenic	2135221867	RCV001914919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114685	108114685	108114684	-
NM_000051.4(ATM):c.504C>T (p.Phe168=)	472	ATM	Likely benign	1060504312	RCV000988642\|RCV002341090;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114687	108114687	11:g.108114687C>T	ClinGen:CA16612972	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.504C>G (p.Phe168Leu)	472	ATM	Uncertain significance	1060504312	RCV000583345\|RCV001347772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114687	108114687	11:g.108114687C>G	ClinGen:CA382527455	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.506C>G (p.Ser169Cys)	472	ATM	Uncertain significance	587779843	RCV000115203\|RCV000796310\|RCV002345413;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114689	108114689	NC_000011.9:g.108114689C>G	ClinGen:CA286870	CN517202 not provided;
NM_000051.4(ATM):c.506C>T (p.Ser169Phe)	472	ATM	Uncertain significance	587779843	RCV000988643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114689	108114689	11:g.108114689C>T	-
NM_000051.4(ATM):c.507T>C (p.Ser169=)	472	ATM	Benign/Likely benign	758619186	RCV000163111\|RCV000228014\|RCV000500341\|RCV001798569\|RCV001711435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:CN221562\|MedGen:C3661900	11	108114690	108114690	NC_000011.9:g.108114690T>C	ClinGen:CA187471	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.510_511del (p.Tyr171fs)	472	ATM	Pathogenic	1591499665	RCV001023548\|RCV001832354;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114690	108114691	11:g.108114690_108114691del	-
NM_000051.4(ATM):c.508G>T (p.Val170Leu)	472	ATM	Uncertain significance	786202781	RCV000165767\|RCV000692509\|RCV003329246;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108114691	108114691	11:g.108114691G>T	ClinGen:CA194172	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.508G>A (p.Val170Met)	472	ATM	Uncertain significance	786202781	RCV001176394\|RCV001875811;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114691	108114691	11:g.108114691G>A	-
NM_000051.4(ATM):c.510G>A (p.Val170=)	472	ATM	Likely benign	375682557	RCV000166367\|RCV000230570\|RCV000429468\|RCV001704217;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108114693	108114693	11:g.108114693G>A	ClinGen:CA195668	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.510G>C (p.Val170=)	472	ATM	Likely benign	375682557	RCV001477783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114693	108114693	11:g.108114693G>C	-
NM_000051.4(ATM):c.512A>G (p.Tyr171Cys)	472	ATM	Uncertain significance	1060501616	RCV000459517\|RCV000482409\|RCV001023588;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114695	108114695	NC_000011.9:g.108114695A>G	ClinGen:CA16613243	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.512A>T (p.Tyr171Phe)	472	ATM	Uncertain significance	1060501616	RCV000988644;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114695	108114695	11:g.108114695A>T	-
NM_000051.4(ATM):c.513C>G (p.Tyr171Ter)	472	ATM	Pathogenic/Likely pathogenic	786201693	RCV000164103\|RCV000533506\|RCV000520700\|RCV003467285;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114696	108114696	11:g.108114696C>G	ClinGen:CA190051	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.513C>T (p.Tyr171=)	472	ATM	Likely pathogenic	786201693	RCV000988645;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114696	108114696	11:g.108114696C>T	-
NM_000051.4(ATM):c.514T>C (p.Phe172Leu)	472	ATM	Uncertain significance	786201608	RCV000163964\|RCV000461451\|RCV001778759;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108114697	108114697	11:g.108114697T>C	ClinGen:CA189656	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.514T>G (p.Phe172Val)	472	ATM	Uncertain significance	-1	RCV002856262;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114697	108114697	NC_000011.9:g.108114697T>G	-
NM_000051.4(ATM):c.516C>T (p.Phe172=)	472	ATM	Likely benign	1591499730	RCV001023650\|RCV002067664;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114699	108114699	11:g.108114699C>T	-
NM_000051.4(ATM):c.517A>C (p.Arg173=)	472	ATM	Likely benign	1591499740	RCV001023665\|RCV001491639;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114700	108114700	11:g.108114700A>C	-
NM_000051.4(ATM):c.518G>T (p.Arg173Met)	472	ATM	Uncertain significance	372694758	RCV000456186\|RCV000575164\|RCV000991561\|RCV002281972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108114701	108114701	11:g.108114701G>T	ClinGen:CA298111	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.519_520insTG (p.Leu174fs)	472	ATM	Pathogenic	-1	RCV003008542;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114701	108114702	NC_000011.9:g.108114702_108114703insTG	-
NM_000051.4(ATM):c.519G>A (p.Arg173=)	472	ATM	Uncertain significance	-1	RCV003051825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114702	108114702		-
NM_000051.4(ATM):c.520C>T (p.Leu174Phe)	472	ATM	Uncertain significance	1565369274	RCV000709163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114703	108114703	11:g.108114703C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.522C>G (p.Leu174=)	472	ATM	Likely benign	780173724	RCV001023766\|RCV001417473;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114705	108114705	11:g.108114705C>G	ClinGen:CA228383722	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.522C>T (p.Leu174=)	472	ATM	Likely benign	780173724	RCV000561751\|RCV002527969;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114705	108114705	11:g.108114705C>T	ClinGen:CA6264626	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.523T>A (p.Tyr175Asn)	472	ATM	Uncertain significance	2079697425	RCV001305740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114706	108114706	108114706	-
NM_000051.4(ATM):c.524A>G (p.Tyr175Cys)	472	ATM	Uncertain significance	-1	RCV003072952\|RCV003161749;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114707	108114707	NC_000011.9:g.108114707A>G	-
NM_000051.4(ATM):c.526C>G (p.Leu176Val)	472	ATM	Uncertain significance	375798802	RCV000467265\|RCV000579672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114709	108114709	NC_000011.9:g.108114709C>G	ClinGen:CA6264627	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.526C>T (p.Leu176=)	472	ATM	Likely benign	375798802	RCV000776742\|RCV001479622;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114709	108114709	NC_000011.9:g.108114709C>T	-
NM_000051.4(ATM):c.526C>A (p.Leu176Met)	472	ATM	Uncertain significance	375798802	RCV000807709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114709	108114709	11:g.108114709C>A	-
NM_000051.4(ATM):c.527T>A (p.Leu176Gln)	472	ATM	Uncertain significance	1555066315	RCV000540737\|RCV000562617\|RCV003227779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108114710	108114710	11:g.108114710T>A	ClinGen:CA382527570	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.533C>T (p.Pro178Leu)	472	ATM	Uncertain significance	1591499842	RCV000818150\|RCV001174858\|RCV002345877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114716	108114716	11:g.108114716C>T	-
NM_000051.4(ATM):c.534T>G (p.Pro178=)	472	ATM	Likely benign	1060504293	RCV000476447\|RCV002350015;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114717	108114717	NC_000011.9:g.108114717T>G	ClinGen:CA16613245	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.534T>C (p.Pro178=)	472	ATM	Likely benign	1060504293	RCV000524677\|RCV001023966;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114717	108114717	11:g.108114717T>C	ClinGen:CA476671409	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.536C>T (p.Ser179Leu)	472	ATM	Uncertain significance	2079698324	RCV001295534\|RCV001773600;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108114719	108114719	108114719	-
NM_000051.4(ATM):c.538C>T (p.Gln180Ter)	472	ATM	Pathogenic	730881333	RCV000505724\|RCV000531127\|RCV001024018;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114721	108114721	NC_000011.9:g.108114721C>T	ClinGen:CA298114	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.538C>A (p.Gln180Lys)	472	ATM	Uncertain significance	730881333	RCV000479337\|RCV000555249\|RCV000772112\|RCV003463986;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114721	108114721	11:g.108114721C>A	ClinGen:CA6264628	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.539A>G (p.Gln180Arg)	472	ATM	Uncertain significance	730881334	RCV000159675\|RCV000570786\|RCV000685843;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114722	108114722	NC_000011.9:g.108114722A>G	ClinGen:CA298117	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.539A>T (p.Gln180Leu)	472	ATM	Uncertain significance	730881334	RCV001359533;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114722	108114722	108114722	-
NM_000051.4(ATM):c.540del (p.Asp181fs)	472	ATM	Pathogenic	1565369355	RCV001878941\|RCV002343937;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114722	108114722	108114721	-
NM_000051.4(ATM):c.541G>A (p.Asp181Asn)	472	ATM	Uncertain significance	2079698928	RCV001326072\|RCV002350605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114724	108114724	108114724	-
NM_000051.4(ATM):c.544G>C (p.Val182Leu)	472	ATM	Benign/Likely benign	3218707	RCV000119106\|RCV000120166\|RCV000131001\|RCV000223988\|RCV001354360\|RCV002225343\|RCV003315697;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108114727	108114727	11:g.108114727G>C	ClinGen:CA157195,UniProtKB:Q13315#VAR_010800	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.544G>A (p.Val182Ile)	472	ATM	Uncertain significance	3218707	RCV001303854;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114727	108114727	108114727	-
NM_000051.4(ATM):c.545T>G (p.Val182Gly)	472	ATM	Uncertain significance	-1	RCV002881667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114728	108114728	NC_000011.9:g.108114728T>G	-
NM_000051.4(ATM):c.546T>G (p.Val182=)	472	ATM	Likely benign	2135223336	RCV001411569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114729	108114729	108114729	-
NM_000051.4(ATM):c.547C>T (p.His183Tyr)	472	ATM	Uncertain significance	1409889384	RCV001339910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114730	108114730	108114730	-
NM_000051.4(ATM):c.547C>G (p.His183Asp)	472	ATM	Uncertain significance	1409889384	RCV001945931\|RCV003355664;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114730	108114730	108114730	-
NM_000051.4(ATM):c.549_550del (p.His183fs)	472	ATM	Pathogenic/Likely pathogenic	730881297	RCV000159626\|RCV000471869\|RCV000572101\|RCV003462066;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114731	108114732	NC_000011.9:g.108114732_108114733del	ClinGen:CA298011	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.548A>C (p.His183Pro)	472	ATM	Uncertain significance	786204219	RCV000168346\|RCV000573387\|RCV003390878;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108114731	108114731	NC_000011.9:g.108114731A>C	ClinGen:CA334627	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.548A>G (p.His183Arg)	472	ATM	Uncertain significance	786204219	RCV001230434;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114731	108114731	11:g.108114731A>G	-
NM_000051.4(ATM):c.549T>G (p.His183Gln)	472	ATM	Uncertain significance	1591499967	RCV001316013;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114732	108114732	108114732	-
NM_000051.4(ATM):c.549T>A (p.His183Gln)	472	ATM	Uncertain significance	1591499967	RCV001875490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114732	108114732	108114732	-
NM_000051.4(ATM):c.550A>G (p.Arg184Gly)	472	ATM	Uncertain significance	1555066377	RCV000572398\|RCV001858172;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114733	108114733	NC_000011.9:g.108114733A>G	ClinGen:CA382527695	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.551G>A (p.Arg184Lys)	472	ATM	Uncertain significance	2135223542	RCV001937763;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114734	108114734	108114734	-
NM_000051.4(ATM):c.552A>G (p.Arg184=)	472	ATM	Likely benign	2135223587	RCV002192633\|RCV002346370;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114735	108114735	108114735	-
NM_000051.4(ATM):c.553G>C (p.Val185Leu)	472	ATM	Uncertain significance	-1	RCV002351884\|RCV003120937;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114736	108114736	108114736	-
NM_000051.4(ATM):c.554T>C (p.Val185Ala)	472	ATM	Uncertain significance	730881335	RCV000159676\|RCV000805180\|RCV002345549;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114737	108114737	NC_000011.9:g.108114737T>C	ClinGen:CA298120	CN517202 not provided;
NM_000051.4(ATM):c.556T>C (p.Leu186=)	472	ATM	Likely benign	2079700064	RCV001493718;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114739	108114739	108114739	-
NM_000051.4(ATM):c.557T>G (p.Leu186Ter)	472	ATM	Pathogenic	1555066388	RCV000548202;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114740	108114740	11:g.108114740T>G	ClinGen:CA382527749	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.557T>C (p.Leu186Ser)	472	ATM	Uncertain significance	1555066388	RCV001042562;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114740	108114740	11:g.108114740T>C	-
NM_000051.4(ATM):c.558A>C (p.Leu186Phe)	472	ATM	Uncertain significance	991667156	RCV000467719\|RCV002255389;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114741	108114741	NC_000011.9:g.108114741A>C	ClinGen:CA16613247	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.558A>G (p.Leu186=)	472	ATM	Likely benign	991667156	RCV002193276\|RCV002346537;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114741	108114741	108114741	-
NM_000051.4(ATM):c.559G>A (p.Val187Met)	472	ATM	Uncertain significance	1060501614	RCV000470600\|RCV001191825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114742	108114742	NC_000011.9:g.108114742G>A	ClinGen:CA16613050	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.559G>T (p.Val187Leu)	472	ATM	Uncertain significance	1060501614	RCV001222658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114742	108114742	11:g.108114742G>T	-
NM_000051.4(ATM):c.562G>T (p.Ala188Ser)	472	ATM	Uncertain significance	1555066392	RCV000529387\|RCV000561643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114745	108114745	NC_000011.9:g.108114745G>T	ClinGen:CA382527774	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.563C>A (p.Ala188Asp)	472	ATM	Uncertain significance	1555066393	RCV000558820\|RCV001024352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114746	108114746	NC_000011.9:g.108114746C>A	ClinGen:CA382527781	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.563C>G (p.Ala188Gly)	472	ATM	Uncertain significance	1555066393	RCV000567487\|RCV001834815;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114746	108114746	NC_000011.9:g.108114746C>G	ClinGen:CA382527784	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.564T>C (p.Ala188=)	472	ATM	Likely benign	2135224096	RCV001405330;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114747	108114747	108114747	-
NM_000051.4(ATM):c.565A>G (p.Arg189Gly)	472	ATM	Uncertain significance	2079701086	RCV001303590\|RCV003166712\|RCV003469528;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114748	108114748	108114748	-
NM_000051.4(ATM):c.565A>C (p.Arg189=)	472	ATM	Likely benign	2079701086	RCV002093453\|RCV002346414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114748	108114748	108114748	-
NM_000051.4(ATM):c.566G>A (p.Arg189Lys)	472	ATM	Benign	79075295	RCV000132506\|RCV000167954;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114749	108114749	11:g.108114749G>A	ClinGen:CA169970	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.566G>C (p.Arg189Thr)	472	ATM	Uncertain significance	79075295	RCV000165882\|RCV000536902;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114749	108114749	11:g.108114749G>C	ClinGen:CA194428	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.567A>G (p.Arg189=)	472	ATM	Likely benign	1555066398	RCV000562303\|RCV000928055;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114750	108114750	NC_000011.9:g.108114750A>G	ClinGen:CA476671434	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.567A>T (p.Arg189Ser)	472	ATM	Uncertain significance	1555066398	RCV001297669;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114750	108114750	108114750	-
NM_000051.4(ATM):c.568A>G (p.Ile190Val)	472	ATM	Uncertain significance	1565369501	RCV000691862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114751	108114751	11:g.108114751A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.572T>A (p.Ile191Asn)	472	ATM	Uncertain significance	767132334	RCV001039140\|RCV003128737\|RCV003160249;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114755	108114755	11:g.108114755T>A	-
NM_000051.4(ATM):c.573T>G (p.Ile191Met)	472	ATM	Uncertain significance	775003417	RCV001230741;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114756	108114756	11:g.108114756T>G	-
NM_000051.4(ATM):c.573T>A (p.Ile191=)	472	ATM	Likely benign	775003417	RCV002146170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114756	108114756	108114756	-
NM_000051.4(ATM):c.574C>G (p.His192Asp)	472	ATM	Uncertain significance	587780629	RCV000122861\|RCV000563677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114757	108114757	NC_000011.9:g.108114757C>G	ClinGen:CA332342	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.574C>T (p.His192Tyr)	472	ATM	Uncertain significance	587780629	RCV000562118\|RCV001858171;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114757	108114757	NC_000011.9:g.108114757C>T	ClinGen:CA382527871	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.574C>A (p.His192Asn)	472	ATM	Uncertain significance	587780629	RCV000627903\|RCV001024478;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114757	108114757	NC_000011.9:g.108114757C>A	ClinGen:CA6264632	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.575A>T (p.His192Leu)	472	ATM	Uncertain significance	-1	RCV003026740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114758	108114758	NC_000011.9:g.108114758A>T	-
NM_000051.4(ATM):c.576T>G (p.His192Gln)	472	ATM	Uncertain significance	2079702502	RCV001068816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114759	108114759	11:g.108114759T>G	-
NM_000051.4(ATM):c.577G>A (p.Ala193Thr)	472	ATM	Conflicting interpretations of pathogenicity	876659832	RCV001024522\|RCV001766855\|RCV002551896;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114760	108114760	11:g.108114760G>A	-
NM_000051.4(ATM):c.578C>G (p.Ala193Gly)	472	ATM	Uncertain significance	1064793928	RCV000479162\|RCV001851166\|RCV002356775;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114761	108114761	11:g.108114761C>G	ClinGen:CA16619098	CN169374 not specified;
NM_000051.4(ATM):c.581T>C (p.Val194Ala)	472	ATM	Uncertain significance	2135224694	RCV002039629;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114764	108114764	108114764	-
NM_000051.4(ATM):c.584C>T (p.Thr195Ile)	472	ATM	Uncertain significance	1196611507	RCV000570373\|RCV001834818\|RCV002272287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108114767	108114767	11:g.108114767C>T	ClinGen:CA382527950	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.587_602del (p.Lys196fs)	472	ATM	Pathogenic	2135224893	RCV001390682;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114768	108114783	108114767	-
NM_000051.4(ATM):c.585C>G (p.Thr195=)	472	ATM	Likely benign	2135224869	RCV002167543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114768	108114768	108114768	-
NM_000051.4(ATM):c.588del (p.Gly197fs)	472	ATM	Likely pathogenic	1057516683	RCV000411087\|RCV003168590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108114769	108114769	11:g.108114769_108114769del	ClinGen:CA16041382	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.586A>C (p.Lys196Gln)	472	ATM	Uncertain significance	2079703283	RCV001212397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114769	108114769	11:g.108114769A>C	-
NM_000051.4(ATM):c.588A>G (p.Lys196=)	472	ATM	Uncertain significance	2135224945	RCV001922950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114771	108114771	108114771	-
NM_000051.4(ATM):c.589G>A (p.Gly197Arg)	472	ATM	Uncertain significance	764080545	RCV000217038\|RCV000235397\|RCV001069719;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114772	108114772	11:g.108114772G>A	ClinGen:CA6264633	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.590G>A (p.Gly197Glu)	472	ATM	Conflicting interpretations of pathogenicity	753806542	RCV000482564\|RCV000569534\|RCV000806962\|RCV003470549;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114773	108114773	11:g.108114773G>A	ClinGen:CA6264634	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.590G>T (p.Gly197Val)	472	ATM	Uncertain significance	753806542	RCV000566600\|RCV000696580;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114773	108114773	NC_000011.9:g.108114773G>T	ClinGen:CA382528007	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.591A>T (p.Gly197=)	472	ATM	Conflicting interpretations of pathogenicity	587780630	RCV000122862\|RCV000165264\|RCV000254428\|RCV001356581\|RCV001682838\|RCV003315808;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108114774	108114774	NC_000011.9:g.108114774A>T	ClinGen:CA192923	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.591A>G (p.Gly197=)	472	ATM	Likely benign	587780630	RCV000569114\|RCV002060454;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114774	108114774	NC_000011.9:g.108114774A>G	ClinGen:CA476671450	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.594C>T (p.Cys198=)	472	ATM	Likely benign	1591500282	RCV001506747;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114777	108114777	11:g.108114777C>T	-
NM_000051.4(ATM):c.594C>G (p.Cys198Trp)	472	ATM	Uncertain significance	1591500282	RCV001024714\|RCV001832357;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114777	108114777	11:g.108114777C>G	-
NM_000051.4(ATM):c.595T>C (p.Cys199Arg)	472	ATM	Uncertain significance	1591500295	RCV000818882\|RCV002352445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114778	108114778	11:g.108114778T>C	-
NM_000051.4(ATM):c.596G>A (p.Cys199Tyr)	472	ATM	Uncertain significance	879254127	RCV000235578\|RCV001183518\|RCV001828120;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114779	108114779	NC_000011.9:g.108114779G>A	ClinGen:CA10584315	CN169374 not specified;
NM_000051.4(ATM):c.597T>A (p.Cys199Ter)	472	ATM	Pathogenic	1565369633	RCV000692604\|RCV001024742\|RCV003465585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114780	108114780	11:g.108114780T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.597T>C (p.Cys199=)	472	ATM	Likely benign	1565369633	RCV002189217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114780	108114780	108114780	-
NM_000051.4(ATM):c.599C>G (p.Ser200Cys)	472	ATM	Uncertain significance	1060501562	RCV000470467;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114782	108114782	NC_000011.9:g.108114782C>G	ClinGen:CA16613053	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.600T>G (p.Ser200=)	472	ATM	Likely benign	2135225298	RCV002134223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114783	108114783	108114783	-
NM_000051.4(ATM):c.601C>T (p.Gln201Ter)	472	ATM	Pathogenic	886039666	RCV000255049\|RCV000628178\|RCV000572239\|RCV003128156\|RCV003463721;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089\|MONDO:MONDO:0016419,MedGen:	11	108114784	108114784	11:g.108114784C>T	ClinGen:CA10588488	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.601C>G (p.Gln201Glu)	472	ATM	Uncertain significance	886039666	RCV001024812\|RCV001043705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114784	108114784	11:g.108114784C>G	-
NM_000051.4(ATM):c.606_609del (p.Asp203_Gly204insTer)	472	ATM	Pathogenic	876658548	RCV000219082\|RCV000599172\|RCV002518269;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114786	108114789	11:g.108114786_108114789del	ClinGen:CA10578966	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.605C>T (p.Thr202Ile)	472	ATM	Uncertain significance	1555066438	RCV000561294\|RCV000689721;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114788	108114788	NC_000011.9:g.108114788C>T	ClinGen:CA382528135	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.606_615dup (p.Asn206Ter)	472	ATM	Pathogenic	-1	RCV002832774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114788	108114789	NC_000011.9:g.108114789_108114798dup	-
NM_000051.4(ATM):c.607G>A (p.Asp203Asn)	472	ATM	Uncertain significance	1591500372	RCV000796333;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114790	108114790	11:g.108114790G>A	-
NM_000051.4(ATM):c.607del (p.Asp203fs)	472	ATM	Pathogenic	2135225618	RCV001386549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114790	108114790	108114789	-
NM_000051.4(ATM):c.609C>T (p.Asp203=)	472	ATM	Conflicting interpretations of pathogenicity	144709948	RCV000123719\|RCV000122866\|RCV000211950\|RCV000679133\|RCV001798396\|RCV003315809;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114792	108114792	NC_000011.9:g.108114792C>T	ClinGen:CA289529	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.610G>A (p.Gly204Arg)	472	ATM	Conflicting interpretations of pathogenicity	147915571	RCV000115224\|RCV000122868\|RCV000235097\|RCV000764935\|RCV001193006\|RCV001535620\|RCV001798321\|RCV003335103;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108114793	108114793	NC_000011.9:g.108114793G>A	ClinGen:CA286922	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.610G>T (p.Gly204Ter)	472	ATM	Pathogenic	147915571	RCV002000096\|RCV002246617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114793	108114793	108114793	-
NM_000051.4(ATM):c.612A>G (p.Gly204=)	472	ATM	Likely benign	878853527	RCV000234649\|RCV000562122;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114795	108114795	NC_000011.9:g.108114795A>G	ClinGen:CA10582788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.614T>G (p.Leu205Ter)	472	ATM	Pathogenic	2079705608	RCV001240749;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114797	108114797	11:g.108114797T>G	-
NM_000051.4(ATM):c.616A>C (p.Asn206His)	472	ATM	Uncertain significance	587781829	RCV000130115\|RCV000480488\|RCV000463431\|RCV003467132;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114799	108114799	11:g.108114799A>C	ClinGen:CA165723	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.620C>G (p.Ser207Cys)	472	ATM	Uncertain significance	876660296	RCV000218707\|RCV002515708;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114803	108114803	11:g.108114803C>G	ClinGen:CA10578967	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.621del (p.Lys208fs)	472	ATM	Pathogenic	2079706212	RCV001036118;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114803	108114803	11:g.108114803_108114803del	-
NM_000051.4(ATM):c.622A>C (p.Lys208Gln)	472	ATM	Uncertain significance	1292617227	RCV000772329\|RCV001042403\|RCV003465692;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114805	108114805	NC_000011.9:g.108114805A>C	-
NM_000051.4(ATM):c.622A>T (p.Lys208Ter)	472	ATM	Pathogenic	-1	RCV002834013;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114805	108114805	NC_000011.9:g.108114805A>T	-
NM_000051.4(ATM):c.623A>G (p.Lys208Arg)	472	ATM	Uncertain significance	2135226282	RCV001956592;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114806	108114806	108114806	-
NM_000051.4(ATM):c.627T>C (p.Phe209=)	472	ATM	Likely benign	-1	RCV002993655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114810	108114810		-
NM_000051.4(ATM):c.628T>C (p.Leu210=)	472	ATM	Likely benign	1555066477	RCV000628237;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114811	108114811	NC_000011.9:g.108114811T>C	ClinGen:CA476671471	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.629T>C (p.Leu210Ser)	472	ATM	Uncertain significance	2079706543	RCV001340898;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114812	108114812	108114812	-
NM_000051.4(ATM):c.630G>A (p.Leu210=)	472	ATM	Conflicting interpretations of pathogenicity	1565369739	RCV000685490\|RCV001025120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114813	108114813	11:g.108114813G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.631G>A (p.Asp211Asn)	472	ATM	Uncertain significance	1555066481	RCV000564940\|RCV000686289;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114814	108114814	NC_000011.9:g.108114814G>A	ClinGen:CA382528366	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.633C>G (p.Asp211Glu)	472	ATM	Uncertain significance	1060501634	RCV000461974\|RCV000482340\|RCV000572097\|RCV001174925;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108114816	108114816	NC_000011.9:g.108114816C>G	ClinGen:CA16612973	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.640dup (p.Ser214fs)	472	ATM	Pathogenic	786204543	RCV001025236\|RCV001383263\|RCV003467685;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114816	108114817	11:g.108114816_108114817insT	-
NM_000051.4(ATM):c.633C>T (p.Asp211=)	472	ATM	Likely benign	1060501634	RCV002218452;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114816	108114816	108114816	-
NM_000051.4(ATM):c.640del (p.Ser214fs)	472	ATM	Pathogenic/Likely pathogenic	786204543	RCV000169254\|RCV000494401\|RCV000561764\|RCV002252014\|RCV003468838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114817	108114817	NC_000011.9:g.108114823del	ClinGen:CA274091	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.635T>C (p.Phe212Ser)	472	ATM	Uncertain significance	1591500544	RCV001025177\|RCV002550908\|RCV003467684;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114818	108114818	11:g.108114818T>C	-
NM_000051.4(ATM):c.636T>C (p.Phe212=)	472	ATM	Likely benign	1555066499	RCV000528794\|RCV001180549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114819	108114819	NC_000011.9:g.108114819T>C	ClinGen:CA476671474	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.639T>C (p.Phe213=)	472	ATM	Likely benign	2135226818	RCV001497432\|RCV001806211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114822	108114822	108114822	-
NM_000051.4(ATM):c.640T>C (p.Ser214Pro)	472	ATM	Uncertain significance	747053710	RCV000232123\|RCV000571912\|RCV001800584\|RCV003233508;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108114823	108114823	NC_000011.9:g.108114823T>C	ClinGen:CA6264636	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.642del (p.Lys215fs)	472	ATM	Pathogenic	876660315	RCV000219456\|RCV002519729;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114824	108114824	11:g.108114824_108114824del	ClinGen:CA10578969	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.642C>T (p.Ser214=)	472	ATM	Likely benign	1555066521	RCV000628304\|RCV002360489;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114825	108114825	NC_000011.9:g.108114825C>T	ClinGen:CA476671478	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.644A>G (p.Lys215Arg)	472	ATM	Uncertain significance	755074633	RCV000214779\|RCV001241136\|RCV002282056\|RCV003469018;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114827	108114827	11:g.108114827A>G	ClinGen:CA6264637	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.644A>T (p.Lys215Met)	472	ATM	Uncertain significance	-1	RCV002361832\|RCV003098252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114827	108114827	108114827	-
NM_000051.4(ATM):c.645G>A (p.Lys215=)	472	ATM	Conflicting interpretations of pathogenicity	2079708544	RCV001184620\|RCV001876146;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114828	108114828	11:g.108114828G>A	-
NM_000051.4(ATM):c.646G>T (p.Ala216Ser)	472	ATM	Uncertain significance	2235002	RCV000130381\|RCV000229944\|RCV000235636\|RCV003398762\|RCV003467145;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114829	108114829	11:g.108114829G>T	ClinGen:CA166296	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.649_651dup (p.Ile217dup)	472	ATM	Uncertain significance	1565369864	RCV000774191\|RCV001051655\|RCV001796208\|RCV002487584\|RCV003150346;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108114830	108114831	NC_000011.9:g.108114832_108114834dup	-
NM_000051.4(ATM):c.647C>T (p.Ala216Val)	472	ATM	Uncertain significance	2135227079	RCV002020777;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114830	108114830	108114830	-
NM_000051.4(ATM):c.648T>G (p.Ala216=)	472	ATM	Likely benign	770270310	RCV000570448\|RCV001408669;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114831	108114831	NC_000011.9:g.108114831T>G	ClinGen:CA476671481	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.648T>C (p.Ala216=)	472	ATM	Likely benign	770270310	RCV001025328\|RCV001489016;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114831	108114831	11:g.108114831T>C	-
NM_000051.4(ATM):c.648T>A (p.Ala216=)	472	ATM	Likely benign	770270310	RCV001192006\|RCV001496629;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114831	108114831	11:g.108114831T>A	-
NM_000051.4(ATM):c.649A>G (p.Ile217Val)	472	ATM	Uncertain significance	547045780	RCV000120164\|RCV000217843\|RCV000472458\|RCV000657028\|RCV003467071;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114832	108114832	11:g.108114832A>G	ClinGen:CA157189	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.649A>T (p.Ile217Phe)	472	ATM	Uncertain significance	547045780	RCV000232806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114832	108114832	NC_000011.9:g.108114832A>T	ClinGen:CA6264640	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.649A>C (p.Ile217Leu)	472	ATM	Uncertain significance	547045780	RCV001043592\|RCV002363589;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114832	108114832	11:g.108114832A>C	-
NM_000051.4(ATM):c.652C>T (p.Gln218Ter)	472	ATM	Pathogenic/Likely pathogenic	1555066551	RCV000523860\|RCV000575828\|RCV001387799;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114835	108114835	11:g.108114835C>T	ClinGen:CA382528550	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.653A>C (p.Gln218Pro)	472	ATM	Uncertain significance	1198686265	RCV000537948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114836	108114836	11:g.108114836A>C	ClinGen:CA382528566	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.653A>G (p.Gln218Arg)	472	ATM	Uncertain significance	1198686265	RCV000569914\|RCV001064754;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114836	108114836	11:g.108114836A>G	ClinGen:CA382528568	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.655T>C (p.Cys219Arg)	472	ATM	Uncertain significance	771685059	RCV000574948\|RCV000627910\|RCV000780889\|RCV001549733;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108114838	108114838	NC_000011.9:g.108114838T>C	ClinGen:CA6264641	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.657T>C (p.Cys219=)	472	ATM	Benign	2235003	RCV000116429\|RCV000129174\|RCV000206853\|RCV000710677\|RCV001357712\|RCV001798369\|RCV002225340\|RCV003315666;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C06	11	108114840	108114840	11:g.108114840T>C	ClinGen:CA151935	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.657_658inv (p.Ala220Thr)	472	ATM	Uncertain significance	-1	RCV002630739;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114840	108114841	NC_000011.9:g.108114840_108114841inv	-
NM_000051.4(ATM):c.658G>A (p.Ala220Thr)	472	ATM	Uncertain significance	2135227395	RCV002020728;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114841	108114841	108114841	-
NM_000051.4(ATM):c.658G>C (p.Ala220Pro)	472	ATM	Uncertain significance	-1	RCV002801448;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114841	108114841	NC_000011.9:g.108114841G>C	-
NM_000051.4(ATM):c.659C>T (p.Ala220Val)	472	ATM	Uncertain significance	145355104	RCV000120165\|RCV000159677\|RCV000513410\|RCV000527646\|RCV000764936\|RCV001030516\|RCV001253154;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108114842	108114842	11:g.108114842C>T	ClinGen:CA157192	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.660G>A (p.Ala220=)	472	ATM	Conflicting interpretations of pathogenicity	763669136	RCV000388037\|RCV000776382\|RCV001706450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108114843	108114843	NC_000011.9:g.108114843G>A	ClinGen:CA6264642	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.660G>T (p.Ala220=)	472	ATM	Likely benign	763669136	RCV002212714;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114843	108114843	108114843	-
NM_000051.4(ATM):c.660G>C (p.Ala220=)	472	ATM	Likely benign	-1	RCV002993670;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114843	108114843		-
NM_000051.4(ATM):c.661A>G (p.Arg221Gly)	472	ATM	Uncertain significance	2135227474	RCV002048895\|RCV002361414\|RCV003471285;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108114844	108114844	108114844	-
NM_000051.4(ATM):c.662G>A (p.Arg221Lys)	472	ATM	Uncertain significance	776349773	RCV000692186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114845	108114845	11:g.108114845G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.662+1G>A	472	ATM	Likely pathogenic	1060501690	RCV000471240\|RCV001025464;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114846	108114846	NC_000011.9:g.108114846G>A	ClinGen:CA16613056	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.662+8_662+12del	472	ATM	Likely benign	864622475	RCV000206631\|RCV000482335\|RCV000580082;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114847	108114851	NC_000011.9:g.108114848AATCT[1]	ClinGen:CA350643	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.662+2T>C	472	ATM	Likely pathogenic	-1	RCV003027862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114847	108114847	NC_000011.9:g.108114847T>C	-
NM_000051.4(ATM):c.662+3A>G	472	ATM	Uncertain significance	2135227609	RCV001364034;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114848	108114848	108114848	-
NM_000051.4(ATM):c.662+4A>G	472	ATM	Uncertain significance	1555066570	RCV000571360\|RCV001036908;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114849	108114849	11:g.108114849A>G	ClinGen:CA658656177	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.662+5T>C	472	ATM	Uncertain significance	2079711059	RCV001040454;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114850	108114850	11:g.108114850T>C	-
NM_000051.4(ATM):c.662+6C>G	472	ATM	Uncertain significance	1565369978	RCV000691187\|RCV000773863;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108114851	108114851	NC_000011.9:g.108114851C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.662+8_662+9dup	472	ATM	Likely benign	1591500816	RCV000981394;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114852	108114853	11:g.108114852_108114853insAA	-
NM_000051.4(ATM):c.662+7T>C	472	ATM	Likely benign	2135227769	RCV002099252;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114852	108114852	108114852	-
NM_000051.4(ATM):c.662+13_662+14del	472	ATM	Likely benign	1064795370	RCV000484890\|RCV001449360;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108114855	108114856	NC_000011.9:g.108114856CT[1]	ClinGen:CA16619099	CN169374 not specified;
NM_000051.4(ATM):c.663-20G>C	472	ATM	Likely benign	1555066898	RCV000582134\|RCV002529193;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115495	108115495	11:g.108115495G>C	ClinGen:CA658683743	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.663-19C>G	472	ATM	Likely benign	1044060944	RCV001970990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115496	108115496	108115496	-
NM_000051.4(ATM):c.663-18T>C	472	ATM	Likely benign	2135236192	RCV002093898;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115497	108115497	108115497	-
NM_000051.4(ATM):c.663-12_663-9del	472	ATM	Uncertain significance	-1	RCV003073393;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115497	108115500	NC_000011.9:g.108115499GTTT[1]	-
NM_000051.4(ATM):c.663-16G>A	472	ATM	Likely benign	2079751648	RCV002078845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115499	108115499	108115499	-
NM_000051.4(ATM):c.663-15T>C	472	ATM	Likely benign	-1	RCV003009932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115500	108115500	NC_000011.9:g.108115500T>C	-
NM_000051.4(ATM):c.663-12G>C	472	ATM	Likely benign	2135236291	RCV002206956;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115503	108115503	108115503	-
NC_000011.10:g.(?_108244778)_(108365518_?)dup	472	ATM	Uncertain significance	-1	RCV001032610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115505	108236245	-1	-
NM_000051.4(ATM):c.663-10T>C	472	ATM	Likely benign	2135236361	RCV002173866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115505	108115505	108115505	-
NM_000051.4(ATM):c.663-8C>A	472	ATM	Uncertain significance	1060501661	RCV000477085\|RCV000589516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108115507	108115507	NC_000011.9:g.108115507C>A	ClinGen:CA16613249	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.663-7T>C	472	ATM	Likely benign	2135236482	RCV002180803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115508	108115508	108115508	-
NC_000011.9:g.(?_108115509)_(108236241_?)dup	472	ATM	Uncertain significance	-1	RCV000628323;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115509	108236241		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.663-6T>A	472	ATM	Likely benign	1555066907	RCV000628248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115509	108115509	NC_000011.9:g.108115509T>A	ClinGen:CA658797777	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.663-5C>A	472	ATM	Conflicting interpretations of pathogenicity	1591503207	RCV001025480\|RCV001401699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115510	108115510	11:g.108115510C>A	-
NM_000051.4(ATM):c.663-5C>T	472	ATM	Uncertain significance	1591503207	RCV001025481\|RCV001827207;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115510	108115510	11:g.108115510C>T	-
NM_000051.4(ATM):c.663-3C>G	472	ATM	Uncertain significance	2079752506	RCV001053992;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115512	108115512	11:g.108115512C>G	-
NM_000051.4(ATM):c.663-3C>T	472	ATM	Uncertain significance	2079752506	RCV001307162\|RCV003365317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115512	108115512	108115512	-
NM_000051.4(ATM):c.663-2A>G	472	ATM	Likely pathogenic	886041931	RCV000387350\|RCV000669607\|RCV002374450;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115513	108115513	11:g.108115513A>G	ClinGen:CA10603087	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.663-2del	472	ATM	Likely pathogenic	-1	RCV002962486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115513	108115513	NC_000011.9:g.108115513del	-
NM_000051.4(ATM):c.663A>T (p.Arg221Ser)	472	ATM	Uncertain significance	1555066913	RCV000551087;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115515	108115515	11:g.108115515A>T	ClinGen:CA382528901	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.663A>G (p.Arg221=)	472	ATM	Uncertain significance	1555066913	RCV001363409;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115515	108115515	108115515	-
NM_000051.4(ATM):c.664C>T (p.Gln222Ter)	472	ATM	Pathogenic/Likely pathogenic	1555066917	RCV000522207\|RCV000672732\|RCV002367729\|RCV003464108;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115516	108115516	11:g.108115516C>T	ClinGen:CA382528913	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.664C>G (p.Gln222Glu)	472	ATM	Uncertain significance	1555066917	RCV002020659\|RCV002259155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115516	108115516	108115516	-
NM_000051.4(ATM):c.666del (p.Glu223fs)	472	ATM	Pathogenic/Likely pathogenic	2135236778	RCV001910401\|RCV003471058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115517	108115517	108115516	-
NM_000051.4(ATM):c.668A>G (p.Glu223Gly)	472	ATM	Uncertain significance	776227830	RCV000166516\|RCV000539810\|RCV000679139\|RCV000763686\|RCV003468784;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108115520	108115520	11:g.108115520A>G	ClinGen:CA196075	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.670A>G (p.Lys224Glu)	472	ATM	Conflicting interpretations of pathogenicity	145053092	RCV000131698\|RCV000205199\|RCV000211951\|RCV000587384\|RCV001257492;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115522	108115522	11:g.108115522A>G	ClinGen:CA294425,UniProtKB:Q13315#VAR_010801	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.672G>C (p.Lys224Asn)	472	ATM	Uncertain significance	769731317	RCV000221484\|RCV000485993\|RCV000474412\|RCV000589106;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108115524	108115524	11:g.108115524G>C	ClinGen:CA6264665	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.672G>T (p.Lys224Asn)	472	ATM	Uncertain significance	769731317	RCV000227220\|RCV000582502;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115524	108115524	NC_000011.9:g.108115524G>T	ClinGen:CA6264664	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.673A>C (p.Ser225Arg)	472	ATM	Uncertain significance	2079753846	RCV001298904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115525	108115525	108115525	-
NM_000051.4(ATM):c.675C>A (p.Ser225Arg)	472	ATM	Uncertain significance	1555066940	RCV002040264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115527	108115527	108115527	-
NM_000051.4(ATM):c.675C>T (p.Ser225=)	472	ATM	Likely benign	1555066940	RCV002093798\|RCV002363638;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115527	108115527	108115527	-
NM_000051.4(ATM):c.677C>T (p.Ser226Phe)	472	ATM	Uncertain significance	2079754211	RCV001041251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115529	108115529	11:g.108115529C>T	-
NM_000051.4(ATM):c.678T>G (p.Ser226=)	472	ATM	Likely benign	2135237178	RCV002141223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115530	108115530	108115530	-
NM_000051.4(ATM):c.678T>C (p.Ser226=)	472	ATM	Likely benign	2135237178	RCV002125280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115530	108115530	108115530	-
NM_000051.4(ATM):c.680del (p.Ser226_Ser227insTer)	472	ATM	Pathogenic/Likely pathogenic	879254070	RCV000237079\|RCV002519824;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115532	108115532	NC_000011.9:g.108115532del	ClinGen:CA10584316	CN517202 not provided;
NM_000051.4(ATM):c.680C>T (p.Ser227Leu)	472	ATM	Uncertain significance	762998620	RCV000569541\|RCV000796269\|RCV002222556;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108115532	108115532	NC_000011.9:g.108115532C>T	ClinGen:CA6264666	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.680C>G (p.Ser227Ter)	472	ATM	Pathogenic	762998620	RCV000704975\|RCV002360820;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115532	108115532	NC_000011.9:g.108115532C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.681dup (p.Gly228fs)	472	ATM	Pathogenic	1591503359	RCV000806502;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115532	108115533	11:g.108115532_108115533insA	-
NM_000051.4(ATM):c.683G>A (p.Gly228Asp)	472	ATM	Uncertain significance	2079754821	RCV001054174;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115535	108115535	11:g.108115535G>A	-
NM_000051.4(ATM):c.684T>C (p.Gly228=)	472	ATM	Likely benign	1591503368	RCV000873420\|RCV001025731;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115536	108115536	11:g.108115536T>C	-
NM_000051.4(ATM):c.684T>G (p.Gly228=)	472	ATM	Likely benign	-1	RCV003162150\|RCV003121455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115536	108115536		-
NM_000051.4(ATM):c.687A>G (p.Leu229=)	472	ATM	Likely benign	3218706	RCV000567960\|RCV002526819;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115539	108115539	11:g.108115539A>G	ClinGen:CA228384555	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.687A>C (p.Leu229=)	472	ATM	Likely benign	3218706	RCV000581326\|RCV000983604;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115539	108115539	NC_000011.9:g.108115539A>C	ClinGen:CA476744617	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.689A>G (p.Asn230Ser)	472	ATM	Uncertain significance	876659494	RCV000219772\|RCV001853571;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115541	108115541	11:g.108115541A>G	ClinGen:CA10578970	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.691C>G (p.His231Asp)	472	ATM	Uncertain significance	1460757633	RCV000557135\|RCV002367752;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115543	108115543	11:g.108115543C>G	ClinGen:CA382529076	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.692A>G (p.His231Arg)	472	ATM	Uncertain significance	587782229	RCV000130924\|RCV000423648\|RCV000457349\|RCV002492509\|RCV003467160;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108115544	108115544	11:g.108115544A>G	ClinGen:CA167385	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.692A>T (p.His231Leu)	472	ATM	Uncertain significance	587782229	RCV001238559\|RCV001526207;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115544	108115544	11:g.108115544A>T	-
NM_000051.4(ATM):c.693T>C (p.His231=)	472	ATM	Likely benign	1555066993	RCV000565841\|RCV002528097;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115545	108115545	11:g.108115545T>C	ClinGen:CA476744626	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.694A>G (p.Ile232Val)	472	ATM	Uncertain significance	767739747	RCV001924416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115546	108115546	108115546	-
NM_000051.4(ATM):c.695T>C (p.Ile232Thr)	472	ATM	Uncertain significance	786203502	RCV000166835\|RCV001346174\|RCV002509270;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108115547	108115547	11:g.108115547T>C	ClinGen:CA196831	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.695T>G (p.Ile232Ser)	472	ATM	Uncertain significance	786203502	RCV000214351\|RCV000698809;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115547	108115547	11:g.108115547T>G	ClinGen:CA10578971	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.696C>G (p.Ile232Met)	472	ATM	Uncertain significance	1591503507	RCV001043173\|RCV003160301;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115548	108115548	11:g.108115548C>G	-
NM_000051.4(ATM):c.699A>G (p.Leu233=)	472	ATM	Likely benign	1555067006	RCV000556175\|RCV002367754;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115551	108115551	11:g.108115551A>G	ClinGen:CA476744635	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.699A>T (p.Leu233Phe)	472	ATM	Uncertain significance	1555067006	RCV000817562;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115551	108115551	11:g.108115551A>T	-
NM_000051.4(ATM):c.702A>G (p.Ala234=)	472	ATM	Likely benign	752751588	RCV000205528\|RCV000445226\|RCV000563414\|RCV001722132;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108115554	108115554	NC_000011.9:g.108115554A>G	ClinGen:CA349678	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.703G>C (p.Ala235Pro)	472	ATM	Uncertain significance	76379269	RCV001323405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115555	108115555	108115555	-
NM_000051.4(ATM):c.704del (p.Ala235fs)	472	ATM	Pathogenic	1591503565	RCV001025969\|RCV001862347;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115556	108115556	11:g.108115556_108115556del	-
NM_000051.4(ATM):c.705T>C (p.Ala235=)	472	ATM	Likely benign	756175724	RCV001025983\|RCV001488214;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115557	108115557	11:g.108115557T>C	-
NM_000051.4(ATM):c.706dup (p.Leu236fs)	472	ATM	Pathogenic	2135238203	RCV001913406;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115557	108115558	108115557	-
NM_000051.4(ATM):c.705T>G (p.Ala235=)	472	ATM	Likely benign	756175724	RCV002209835;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115557	108115557	108115557	-
NM_000051.4(ATM):c.706C>G (p.Leu236Val)	472	ATM	Uncertain significance	886042866	RCV000329998\|RCV000775243\|RCV001046666;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115558	108115558	11:g.108115558C>G	ClinGen:CA10604790	CN169374 not specified;
NM_000051.4(ATM):c.706C>T (p.Leu236Phe)	472	ATM	Conflicting interpretations of pathogenicity	886042866	RCV001902104\|RCV003164151;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115558	108115558	108115558	-
NM_000051.4(ATM):c.707T>G (p.Leu236Arg)	472	ATM	Uncertain significance	876659813	RCV000795165;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115559	108115559	11:g.108115559T>G	-
NM_000051.4(ATM):c.707T>A (p.Leu236His)	472	ATM	Uncertain significance	876659813	RCV001341933\|RCV002368128;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115559	108115559	108115559	-
NM_000051.4(ATM):c.709dup (p.Thr237fs)	472	ATM	Pathogenic	2079758064	RCV001036994\|RCV001183124\|RCV001549886;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108115560	108115561	11:g.108115560_108115561insA	-
NM_000051.4(ATM):c.709A>G (p.Thr237Ala)	472	ATM	Uncertain significance	376529329	RCV000628113\|RCV000777651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115561	108115561	NC_000011.9:g.108115561A>G	ClinGen:CA6264672	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.709A>T (p.Thr237Ser)	472	ATM	Uncertain significance	376529329	RCV002045656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115561	108115561	108115561	-
NM_000051.4(ATM):c.710del (p.Thr237fs)	472	ATM	Pathogenic	1060501642	RCV000456893\|RCV003168783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115562	108115562	NC_000011.9:g.108115562del	ClinGen:CA16613298	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.710C>T (p.Thr237Ile)	472	ATM	Uncertain significance	-1	RCV003074952;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115562	108115562	NC_000011.9:g.108115562C>T	-
NM_000051.4(ATM):c.711T>C (p.Thr237=)	472	ATM	Likely benign	1294159555	RCV001190343\|RCV001487777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115563	108115563	11:g.108115563T>C	-
NM_000051.4(ATM):c.712A>G (p.Ile238Val)	472	ATM	Conflicting interpretations of pathogenicity	754275014	RCV000165761\|RCV000235409\|RCV000229485\|RCV001196993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115564	108115564	11:g.108115564A>G	ClinGen:CA194160	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.713T>C (p.Ile238Thr)	472	ATM	Uncertain significance	149116878	RCV000480166\|RCV000574196\|RCV001222216;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115565	108115565	11:g.108115565T>C	ClinGen:CA6264673	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.713T>A (p.Ile238Asn)	472	ATM	Uncertain significance	149116878	RCV001206486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115565	108115565	11:g.108115565T>A	-
NM_000051.4(ATM):c.716del (p.Phe239fs)	472	ATM	Pathogenic	2079758855	RCV001062948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115567	108115567	11:g.108115567_108115567del	-
NM_000051.4(ATM):c.716T>C (p.Phe239Ser)	472	ATM	Uncertain significance	143198946	RCV000167416\|RCV000546657\|RCV001548134;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108115568	108115568	11:g.108115568T>C	ClinGen:CA198246	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.717_720del (p.Phe239fs)	472	ATM	Pathogenic	587782660	RCV000132076\|RCV000484835\|RCV000798600;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115569	108115572	NC_000011.9:g.108115569_108115572del	ClinGen:CA169212	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.717C>T (p.Phe239=)	472	ATM	Likely benign	779410490	RCV000558764\|RCV000575948\|RCV001696936;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108115569	108115569	NC_000011.9:g.108115569C>T	ClinGen:CA6264674	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.718C>T (p.Leu240Phe)	472	ATM	Uncertain significance	1210038351	RCV000547564\|RCV000568523;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115570	108115570	11:g.108115570C>T	ClinGen:CA382529197	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.719T>G (p.Leu240Arg)	472	ATM	Uncertain significance	876658753	RCV000223408\|RCV000702316\|RCV003469014;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115571	108115571	11:g.108115571T>G	ClinGen:CA10578973	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.720C>T (p.Leu240=)	472	ATM	Likely benign	1254593530	RCV000678989\|RCV001443638;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115572	108115572	11:g.108115572C>T	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.737_738insAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATC	472	ATM	Pathogenic	-1	RCV003014074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115572	108115573	NC_000011.9:g.108115589_108115590insAAAACACATGAAGAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACTATGAGATATCNNNNNNNNNNAAAAAAAAAAAAAAAAAAAAAAGACTTTGGCTG	-
NM_000051.4(ATM):c.722A>G (p.Lys241Arg)	472	ATM	Uncertain significance	1021907990	RCV000696987;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115574	108115574	11:g.108115574A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.724A>G (p.Thr242Ala)	472	ATM	Uncertain significance	1555067068	RCV000628081;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115576	108115576	NC_000011.9:g.108115576A>G	ClinGen:CA382529218	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.729_741del (p.Leu243fs)	472	ATM	Pathogenic	2079760023	RCV001216483\|RCV002379818;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115576	108115588	11:g.108115576_108115588del	-
NM_000051.4(ATM):c.728dup (p.Leu243fs)	472	ATM	Pathogenic	2135238938	RCV001388451\|RCV002384549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115577	108115578	108115577	-
NM_000051.4(ATM):c.725C>A (p.Thr242Asn)	472	ATM	Uncertain significance	2135238871	RCV002028412;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115577	108115577	108115577	-
NM_000051.4(ATM):c.728T>C (p.Leu243Ser)	472	ATM	Uncertain significance	786202096	RCV000164740\|RCV000476928\|RCV000479879\|RCV003390867;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|	11	108115580	108115580	11:g.108115580T>C	ClinGen:CA191675	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.730G>C (p.Ala244Pro)	472	ATM	Uncertain significance	2079760518	RCV001059543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115582	108115582	11:g.108115582G>C	-
NM_000051.4(ATM):c.730G>A (p.Ala244Thr)	472	ATM	Uncertain significance	2079760518	RCV001338825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115582	108115582	108115582	-
NM_000051.4(ATM):c.732T>A (p.Ala244=)	472	ATM	Likely benign	2135239123	RCV001403928;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115584	108115584	108115584	-
NM_000051.4(ATM):c.733G>A (p.Val245Ile)	472	ATM	Uncertain significance	1555067081	RCV000532657\|RCV002384021;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115585	108115585	NC_000011.9:g.108115585G>A	ClinGen:CA382529237	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108115586)_(108118919_?)del	472	ATM	Likely pathogenic	-1	RCV003119177;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115586	108118919		-
NM_000051.4(ATM):c.735C>T (p.Val245=)	472	ATM	Benign/Likely benign	3218674	RCV000162384\|RCV000204399\|RCV000253651\|RCV000710681\|RCV001358287\|RCV002225472\|RCV003315976;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108115587	108115587	11:g.108115587C>T	ClinGen:CA186184	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.735C>G (p.Val245=)	472	ATM	Likely benign	3218674	RCV001440779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115587	108115587	NC_000011.9:g.108115587C>G	ClinGen:CA476744676	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.737A>G (p.Asn246Ser)	472	ATM	Uncertain significance	781023264	RCV000628206\|RCV000779770\|RCV001311783\|RCV002257863\|RCV003459481;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115589	108115589	NC_000011.9:g.108115589A>G	ClinGen:CA6264676	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.737A>C (p.Asn246Thr)	472	ATM	Uncertain significance	781023264	RCV001026345\|RCV001320747;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115589	108115589	11:g.108115589A>C	-
NM_000051.4(ATM):c.738C>G (p.Asn246Lys)	472	ATM	Uncertain significance	1335108218	RCV001936040\|RCV003401884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108115590	108115590	108115590	-
NM_000051.4(ATM):c.739T>A (p.Phe247Ile)	472	ATM	Uncertain significance	2135239339	RCV001930684;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115591	108115591	108115591	-
NM_000051.4(ATM):c.741T>C (p.Phe247=)	472	ATM	Likely benign	876659081	RCV000217833\|RCV000231769\|RCV000606888;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108115593	108115593	11:g.108115593T>C	ClinGen:CA10578974	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.742C>T (p.Arg248Ter)	472	ATM	Pathogenic/Likely pathogenic	730881336	RCV000159678\|RCV000211945\|RCV000410046\|RCV000515228\|RCV000709708\|RCV003162669;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108115594	108115594	NC_000011.9:g.108115594C>T	ClinGen:CA298123	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.742C>G (p.Arg248Gly)	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002601700;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115594	108115594	NC_000011.9:g.108115594C>G	-
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)	472	ATM	Conflicting interpretations of pathogenicity	769166447	RCV000540986\|RCV000580624\|RCV001267945\|RCV003151081\|RCV003470684;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115595	108115595	11:g.108115595G>T	ClinGen:CA382529260	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.743G>A (p.Arg248Gln)	472	ATM	Uncertain significance	769166447	RCV000567418\|RCV000805334\|RCV001662611\|RCV002289775;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115595	108115595	NC_000011.9:g.108115595G>A	ClinGen:CA6264677	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.744A>C (p.Arg248=)	472	ATM	Likely benign	1591503905	RCV001026444\|RCV002067699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115596	108115596	11:g.108115596A>C	-
NM_000051.4(ATM):c.745A>G (p.Ile249Val)	472	ATM	Uncertain significance	1060501636	RCV000461831\|RCV003362792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115597	108115597	NC_000011.9:g.108115597A>G	ClinGen:CA16613303	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.748C>T (p.Arg250Ter)	472	ATM	Pathogenic	772821016	RCV000196975\|RCV000216766\|RCV000479464\|RCV001328429\|RCV003165463\|RCV003468894;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen	11	108115600	108115600	11:g.108115600C>T	ClinGen:CA336868	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.749G>A (p.Arg250Gln)	472	ATM	Conflicting interpretations of pathogenicity	56123940	RCV000129173\|RCV000204231\|RCV000211952\|RCV001257469\|RCV001704053\|RCV002225424\|RCV001798434;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D06132	11	108115601	108115601	11:g.108115601G>A	ClinGen:CA293997,UniProtKB:Q13315#VAR_041547	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.749G>C (p.Arg250Pro)	472	ATM	Uncertain significance	56123940	RCV001899601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115601	108115601	108115601	-
NM_000051.4(ATM):c.750A>G (p.Arg250=)	472	ATM	Conflicting interpretations of pathogenicity	1555067112	RCV000543722\|RCV002395264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115602	108115602	11:g.108115602A>G	ClinGen:CA476744694	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.756_757del (p.Cys252_Glu253delinsTer)	472	ATM	Pathogenic/Likely pathogenic	876659003	RCV000222737\|RCV000409635\|RCV003316212;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115603	108115604	11:g.108115603_108115604del	ClinGen:CA10578976	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.751G>A (p.Val251Met)	472	ATM	Uncertain significance	1057519145	RCV000415796\|RCV000544486\|RCV002392942;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115603	108115603	11:g.108115603G>A	ClinGen:CA16043784	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.752T>C (p.Val251Ala)	472	ATM	Uncertain significance	1591503977	RCV001805479\|RCV001869546;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115604	108115604	108115604	-
NM_000051.4(ATM):c.753G>A (p.Val251=)	472	ATM	Conflicting interpretations of pathogenicity	876658806	RCV000214576\|RCV000461267\|RCV003128605;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108115605	108115605	11:g.108115605G>A	ClinGen:CA10578975	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.753del (p.Cys252fs)	472	ATM	Pathogenic	2135239839	RCV001902850\|RCV002388769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115605	108115605	108115604	-
NM_000051.4(ATM):c.754T>A (p.Cys252Ser)	472	ATM	Uncertain significance	863224580	RCV000199312\|RCV002390533;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115606	108115606	NC_000011.9:g.108115606T>A	ClinGen:CA338552	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.757G>A (p.Glu253Lys)	472	ATM	Uncertain significance	2135239944	RCV001905450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115609	108115609	108115609	-
NM_000051.4(ATM):c.757G>T (p.Glu253Ter)	472	ATM	Pathogenic	-1	RCV002928012;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115609	108115609	NC_000011.9:g.108115609G>T	-
NM_000051.4(ATM):c.758A>G (p.Glu253Gly)	472	ATM	Uncertain significance	2079763142	RCV001046650\|RCV003160354;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115610	108115610	11:g.108115610A>G	-
NM_000051.4(ATM):c.759A>G (p.Glu253=)	472	ATM	Conflicting interpretations of pathogenicity	2135239992	RCV001474025\|RCV002396120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115611	108115611	108115611	-
NM_000051.4(ATM):c.762A>G (p.Leu254=)	472	ATM	Likely benign	1313709939	RCV000550138\|RCV000777218\|RCV002225646;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108115614	108115614	11:g.108115614A>G	ClinGen:CA476744709	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.764_766del (p.Gly255del)	472	ATM	Uncertain significance	766716803	RCV001234619\|RCV001524477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115614	108115616	11:g.108115614_108115616del	-
NM_000051.4(ATM):c.763G>C (p.Gly255Arg)	472	ATM	Uncertain significance	770911662	RCV000686326\|RCV000772923;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115615	108115615	NC_000011.9:g.108115615G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.763G>A (p.Gly255Arg)	472	ATM	Uncertain significance	-1	RCV002933958\|RCV003170705;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115615	108115615	NC_000011.9:g.108115615G>A	-
NM_000051.4(ATM):c.765A>G (p.Gly255=)	472	ATM	Likely benign	1591504056	RCV000939174;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115617	108115617	11:g.108115617A>G	-
NM_000051.4(ATM):c.766G>A (p.Asp256Asn)	472	ATM	Uncertain significance	2079764061	RCV001071076;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115618	108115618	11:g.108115618G>A	-
NM_000051.4(ATM):c.766G>T (p.Asp256Tyr)	472	ATM	Uncertain significance	2079764061	RCV001225601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115618	108115618	11:g.108115618G>T	-
NM_000051.4(ATM):c.767A>G (p.Asp256Gly)	472	ATM	Uncertain significance	907941927	RCV000552847\|RCV002404357;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115619	108115619	11:g.108115619A>G	ClinGen:CA228384772	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.767A>T (p.Asp256Val)	472	ATM	Uncertain significance	907941927	RCV000575890\|RCV001858242;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115619	108115619	NC_000011.9:g.108115619A>T	ClinGen:CA382529305	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.769G>C (p.Glu257Gln)	472	ATM	Uncertain significance	1565371596	RCV000689178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115621	108115621	NC_000011.9:g.108115621G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.769G>T (p.Glu257Ter)	472	ATM	Pathogenic	1565371596	RCV001384777;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115621	108115621	108115621	-
NM_000051.4(ATM):c.771A>G (p.Glu257=)	472	ATM	Likely benign	786201068	RCV000162516\|RCV001478740;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115623	108115623	11:g.108115623A>G	ClinGen:CA186399	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.771A>C (p.Glu257Asp)	472	ATM	Uncertain significance	-1	RCV002302338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115623	108115623	108115623	-
NM_000051.4(ATM):c.775C>T (p.Leu259Phe)	472	ATM	Uncertain significance	-1	RCV003112224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115627	108115627	NC_000011.9:g.108115627C>T	-
NM_000051.4(ATM):c.777T>C (p.Leu259=)	472	ATM	Likely benign	2135240556	RCV002173798;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115629	108115629	108115629	-
NM_000051.4(ATM):c.777T>A (p.Leu259=)	472	ATM	Likely benign	-1	RCV002938147;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115629	108115629		-
NM_000051.4(ATM):c.778C>G (p.Pro260Ala)	472	ATM	Uncertain significance	863224581	RCV000200175;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115630	108115630	11:g.108115630C>G	ClinGen:CA339138	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.778C>A (p.Pro260Thr)	472	ATM	Uncertain significance	863224581	RCV000694406\|RCV003465591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115630	108115630	11:g.108115630C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.779C>T (p.Pro260Leu)	472	ATM	Uncertain significance	961262202	RCV000571819\|RCV000822347\|RCV001358698;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108115631	108115631	NC_000011.9:g.108115631C>T	ClinGen:CA228384778	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.779C>A (p.Pro260His)	472	ATM	Uncertain significance	961262202	RCV000627996;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115631	108115631	NC_000011.9:g.108115631C>A	ClinGen:CA382529330	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.781A>T (p.Thr261Ser)	472	ATM	Uncertain significance	786203410	RCV000166703\|RCV000819779;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115633	108115633	11:g.108115633A>T	ClinGen:CA196522	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.785T>A (p.Leu262Ter)	472	ATM	Pathogenic/Likely pathogenic	864622163	RCV000206320\|RCV003462368;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115637	108115637	NC_000011.9:g.108115637T>A	ClinGen:CA350365	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.785T>G (p.Leu262Trp)	472	ATM	Uncertain significance	864622163	RCV000223552\|RCV000536049;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115637	108115637	11:g.108115637T>G	ClinGen:CA10578977	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.785T>C (p.Leu262Ser)	472	ATM	Uncertain significance	864622163	RCV000462136\|RCV003168782\|RCV003317214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108115637	108115637	NC_000011.9:g.108115637T>C	ClinGen:CA16613251	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.787C>T (p.Leu263Phe)	472	ATM	Uncertain significance	876659531	RCV000222517\|RCV001226805;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115639	108115639	11:g.108115639C>T	ClinGen:CA10578978	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.790del (p.Tyr264fs)	472	ATM	Pathogenic	587781978	RCV000130373\|RCV000233840\|RCV000235917\|RCV002288636;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115640	108115640	11:g.108115640_108115640del	ClinGen:CA166283	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.788T>A (p.Leu263His)	472	ATM	Uncertain significance	2079765536	RCV001235774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115640	108115640	11:g.108115640T>A	-
NM_000051.4(ATM):c.790T>C (p.Tyr264His)	472	ATM	Uncertain significance	-1	RCV003082422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115642	108115642	NC_000011.9:g.108115642T>C	-
NM_000051.4(ATM):c.790T>G (p.Tyr264Asp)	472	ATM	Uncertain significance	-1	RCV003038873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115642	108115642	NC_000011.9:g.108115642T>G	-
NM_000051.4(ATM):c.792T>C (p.Tyr264=)	472	ATM	Likely benign	-1	RCV003045861;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115644	108115644		-
NM_000051.4(ATM):c.793A>G (p.Ile265Val)	472	ATM	Uncertain significance	587781973	RCV000130361\|RCV001857448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115645	108115645	11:g.108115645A>G	ClinGen:CA166265	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.795T>C (p.Ile265=)	472	ATM	Likely benign	1290222131	RCV001027002\|RCV001468052;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115647	108115647	11:g.108115647T>C	-
NM_000051.4(ATM):c.795T>A (p.Ile265=)	472	ATM	Likely benign	1290222131	RCV001192415\|RCV002559212\|RCV003293978;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115647	108115647	11:g.108115647T>A	-
NM_000051.4(ATM):c.798G>A (p.Trp266Ter)	472	ATM	Pathogenic	2079766417	RCV001210403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115650	108115650	11:g.108115650G>A	-
NM_000051.4(ATM):c.798G>T (p.Trp266Cys)	472	ATM	Uncertain significance	2079766417	RCV001969618;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115650	108115650	108115650	-
NM_000051.4(ATM):c.799A>G (p.Thr267Ala)	472	ATM	Uncertain significance	876660962	RCV000214811\|RCV000567197\|RCV000818514\|RCV002503873;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108115651	108115651	NC_000011.9:g.108115651A>G	ClinGen:CA10577424	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.802C>T (p.Gln268Ter)	472	ATM	Pathogenic/Likely pathogenic	557012154	RCV000169336\|RCV000222842\|RCV000519059\|RCV003468841;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115654	108115654	11:g.108115654C>T	ClinGen:CA274188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.805_808dup (p.Arg270delinsThrTer)	472	ATM	Pathogenic	-1	RCV002797181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115655	108115656	NC_000011.9:g.108115657_108115660dup	-
NM_000051.4(ATM):c.804A>G (p.Gln268=)	472	ATM	Likely benign	2079766818	RCV001300190;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115656	108115656	108115656	-
NM_000051.4(ATM):c.805C>T (p.His269Tyr)	472	ATM	Uncertain significance	1591504278	RCV001027125\|RCV001862398\|RCV002509593;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108115657	108115657	11:g.108115657C>T	-
NM_000051.4(ATM):c.806A>G (p.His269Arg)	472	ATM	Uncertain significance	1565371740	RCV000688134\|RCV002422481;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115658	108115658	NC_000011.9:g.108115658A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.806A>T (p.His269Leu)	472	ATM	Uncertain significance	-1	RCV002714956;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115658	108115658	NC_000011.9:g.108115658A>T	-
NM_000051.4(ATM):c.807T>G (p.His269Gln)	472	ATM	Uncertain significance	2135241561	RCV002019311;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115659	108115659	108115659	-
NM_000051.4(ATM):c.808A>G (p.Arg270Gly)	472	ATM	Uncertain significance	2135241589	RCV001525534\|RCV003136094;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115660	108115660	108115660	-
NM_000051.4(ATM):c.809G>A (p.Arg270Lys)	472	ATM	Uncertain significance	587781857	RCV000130165\|RCV000699230\|RCV000777652\|RCV001588982;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108115661	108115661	11:g.108115661G>A	ClinGen:CA165849	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.810G>C (p.Arg270Ser)	472	ATM	Uncertain significance	1565371772	RCV001212036;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115662	108115662	11:g.108115662G>C	-
NM_000051.4(ATM):c.811C>A (p.Leu271Ile)	472	ATM	Uncertain significance	730881339	RCV000159681\|RCV000211953\|RCV000472609\|RCV001356297\|RCV003467225;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115663	108115663	NC_000011.9:g.108115663C>A	ClinGen:CA298132	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.811C>G (p.Leu271Val)	472	ATM	Uncertain significance	730881339	RCV000628181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115663	108115663	NC_000011.9:g.108115663C>G	ClinGen:CA382529394	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.811C>T (p.Leu271Phe)	472	ATM	Uncertain significance	730881339	RCV000776994\|RCV001036791;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115663	108115663	NC_000011.9:g.108115663C>T	-
NM_000051.4(ATM):c.812T>G (p.Leu271Arg)	472	ATM	Uncertain significance	1314281091	RCV001027208\|RCV001350148\|RCV003226994\|RCV003461425;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115664	108115664	11:g.108115664T>G	-
NM_000051.4(ATM):c.812T>C (p.Leu271Pro)	472	ATM	Uncertain significance	-1	RCV003085969;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115664	108115664	NC_000011.9:g.108115664T>C	-
NM_000051.4(ATM):c.814A>C (p.Asn272His)	472	ATM	Uncertain significance	1565371810	RCV000776616\|RCV001869111;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115666	108115666	NC_000011.9:g.108115666A>C	-
NM_000051.4(ATM):c.824_825insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCTATGATTCTTT (p.Leu275delinsPhePhePhePhe	472	ATM	Pathogenic	2135241864	RCV002007398;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115666	108115667	108115666	-
NM_000051.4(ATM):c.814A>G (p.Asn272Asp)	472	ATM	Uncertain significance	-1	RCV002806706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115666	108115666	NC_000011.9:g.108115666A>G	-
NM_000051.4(ATM):c.815A>T (p.Asn272Ile)	472	ATM	Uncertain significance	1555067189	RCV000627976\|RCV002420659;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115667	108115667	NC_000011.9:g.108115667A>T	ClinGen:CA382529404	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.815A>G (p.Asn272Ser)	472	ATM	Uncertain significance	1555067189	RCV001372405\|RCV002420840\|RCV003469615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115667	108115667	108115667	-
NM_000051.4(ATM):c.820T>G (p.Ser274Ala)	472	ATM	Uncertain significance	2079767927	RCV001247837\|RCV002430048;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115672	108115672	11:g.108115672T>G	-
NM_000051.4(ATM):c.821C>T (p.Ser274Phe)	472	ATM	Uncertain significance	1591504377	RCV000800834\|RCV002424847;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115673	108115673	11:g.108115673C>T	-
NM_000051.4(ATM):c.825_849dup (p.Gln284delinsLysArgSerHisTyrTer)	472	ATM	Pathogenic	1591504396	RCV000801234;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115673	108115674	11:g.108115673_108115674insTTTAAAAGAAGTCATTATTGAATTA	-
NM_000051.4(ATM):c.821C>G (p.Ser274Cys)	472	ATM	Uncertain significance	1591504377	RCV001206440\|RCV003469336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115673	108115673	11:g.108115673C>G	-
NM_000051.4(ATM):c.821C>A (p.Ser274Tyr)	472	ATM	Uncertain significance	-1	RCV003097526;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115673	108115673	NC_000011.9:g.108115673C>A	-
NM_000051.4(ATM):c.824del (p.Ser274_Leu275insTer)	472	ATM	Pathogenic	864622389	RCV000205636\|RCV000221322\|RCV001795332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108115674	108115674	NC_000011.9:g.108115676del	ClinGen:CA349767	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.823T>C (p.Leu275=)	472	ATM	Likely benign	-1	RCV003015185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115675	108115675		-
NM_000051.4(ATM):c.825A>T (p.Leu275Phe)	472	ATM	Uncertain significance	2135242080	RCV001361739\|RCV003298572;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115677	108115677	108115677	-
NM_000051.4(ATM):c.826A>G (p.Lys276Glu)	472	ATM	Uncertain significance	587782902	RCV000132545\|RCV000520768\|RCV000699534;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115678	108115678	11:g.108115678A>G	ClinGen:CA170049	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.826A>C (p.Lys276Gln)	472	ATM	Uncertain significance	587782902	RCV000487014\|RCV001207351;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115678	108115678	11:g.108115678A>C	ClinGen:CA16619100	CN169374 not specified;
NM_000051.4(ATM):c.829G>T (p.Glu277Ter)	472	ATM	Pathogenic/Likely pathogenic	876660933	RCV000223320\|RCV000235851\|RCV000669686\|RCV001814123\|RCV003165577\|RCV003469103;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0011442,MedGen:C4023354\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeS	11	108115681	108115681	11:g.108115681G>T	ClinGen:CA10578979	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.829del (p.Glu277fs)	472	ATM	Likely pathogenic	-1	RCV003230953;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115681	108115681		-
NM_000051.4(ATM):c.830A>G (p.Glu277Gly)	472	ATM	Uncertain significance	2079768905	RCV001234626;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115682	108115682	11:g.108115682A>G	-
NM_000051.4(ATM):c.832G>T (p.Val278Phe)	472	ATM	Uncertain significance	761005590	RCV000544958;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115684	108115684	11:g.108115684G>T	ClinGen:CA6264682	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.834C>G (p.Val278=)	472	ATM	Conflicting interpretations of pathogenicity	2079769316	RCV001105467\|RCV002436706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115686	108115686	11:g.108115686C>G	-
NM_000051.4(ATM):c.834C>T (p.Val278=)	472	ATM	Likely benign	2079769316	RCV001456605\|RCV002439079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115686	108115686	108115686	-
NM_000051.4(ATM):c.835A>G (p.Ile279Val)	472	ATM	Uncertain significance	1555067210	RCV000557486\|RCV001017601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115687	108115687	NC_000011.9:g.108115687A>G	ClinGen:CA382529446	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.835ATT[1] (p.Ile280del)	472	ATM	Uncertain significance	-1	RCV002434824\|RCV003099928;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115687	108115689	108115686	-
NM_000051.4(ATM):c.837T>A (p.Ile279=)	472	ATM	Likely benign	2135242369	RCV001431609;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115689	108115689	108115689	-
NM_000051.4(ATM):c.837T>C (p.Ile279=)	472	ATM	Likely benign	2135242369	RCV001478463;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115689	108115689	108115689	-
NM_000051.4(ATM):c.838A>G (p.Ile280Val)	472	ATM	Uncertain significance	764048041	RCV000462035\|RCV000771769\|RCV001764393;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108115690	108115690	NC_000011.9:g.108115690A>G	ClinGen:CA6264683	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.839T>C (p.Ile280Thr)	472	ATM	Uncertain significance	587782080	RCV000130576\|RCV001347638;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115691	108115691	11:g.108115691T>C	ClinGen:CA166675	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.841G>A (p.Glu281Lys)	472	ATM	Uncertain significance	1591504491	RCV000805321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115693	108115693	11:g.108115693G>A	-
NM_000051.4(ATM):c.841G>T (p.Glu281Ter)	472	ATM	Pathogenic	1591504491	RCV001057969;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115693	108115693	11:g.108115693G>T	-
NM_000051.4(ATM):c.844T>C (p.Leu282=)	472	ATM	Likely benign	1565371944	RCV000777471\|RCV001451843;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115696	108115696	NC_000011.9:g.108115696T>C	-
NM_000051.4(ATM):c.846A>T (p.Leu282Phe)	472	ATM	Conflicting interpretations of pathogenicity	754008850	RCV000570159\|RCV000627865\|RCV003328603;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108115698	108115698	11:g.108115698A>T	ClinGen:CA6264684	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.846A>G (p.Leu282=)	472	ATM	Likely benign	754008850	RCV001425487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115698	108115698	108115698	-
NM_000051.4(ATM):c.847T>G (p.Phe283Val)	472	ATM	Uncertain significance	1591504549	RCV000800844;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115699	108115699	11:g.108115699T>G	-
NM_000051.4(ATM):c.849T>A (p.Phe283Leu)	472	ATM	Uncertain significance	1060501617	RCV000466352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115701	108115701	NC_000011.9:g.108115701T>A	ClinGen:CA16612975	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.850C>T (p.Gln284Ter)	472	ATM	Pathogenic/Likely pathogenic	757782702	RCV000493159\|RCV001389991\|RCV003470607;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115702	108115702	11:g.108115702C>T	ClinGen:CA6264685	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.852A>G (p.Gln284=)	472	ATM	Likely benign	140367473	RCV000570945\|RCV001061104;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115704	108115704	11:g.108115704A>G	ClinGen:CA6264686	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.852A>T (p.Gln284His)	472	ATM	Uncertain significance	140367473	RCV001317150\|RCV002447344;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115704	108115704	108115704	-
NM_000051.4(ATM):c.854T>G (p.Leu285Arg)	472	ATM	Uncertain significance	864622605	RCV000206596\|RCV001017983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115706	108115706	11:g.108115706T>G	ClinGen:CA350615	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.854T>C (p.Leu285Pro)	472	ATM	Uncertain significance	864622605	RCV001017982\|RCV001860887;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115706	108115706	11:g.108115706T>C	-
NM_000051.4(ATM):c.855G>C (p.Leu285=)	472	ATM	Likely benign	863224299	RCV001430915\|RCV002444799;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115707	108115707	11:g.108115707G>C	ClinGen:CA335849	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.855_856delinsCT (p.Gln286Ter)	472	ATM	Pathogenic	2079771517	RCV001059111;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115707	108115708	NC_000011.9:g.108115707_108115708delinsCT	-
NM_000051.4(ATM):c.855G>A (p.Leu285=)	472	ATM	Likely benign	863224299	RCV002089945\|RCV003161335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115707	108115707	108115707	-
NM_000051.4(ATM):c.856C>T (p.Gln286Ter)	472	ATM	Pathogenic	2135242925	RCV001384359\|RCV002447511;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115708	108115708	108115708	-
NM_000051.4(ATM):c.857A>C (p.Gln286Pro)	472	ATM	Uncertain significance	1591504622	RCV001930158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115709	108115709	108115709	-
NM_000051.4(ATM):c.858A>G (p.Gln286=)	472	ATM	Conflicting interpretations of pathogenicity	145301478	RCV000164514\|RCV000468266\|RCV000606983\|RCV002460940;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108115710	108115710	11:g.108115710A>G	ClinGen:CA191148	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.861T>C (p.Ile287=)	472	ATM	Benign/Likely benign	55849405	RCV000215136\|RCV000442551\|RCV000472759;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115713	108115713	11:g.108115713T>C	ClinGen:CA6264687	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.864del (p.Ile287_Tyr288insTer)	472	ATM	Pathogenic	1565372075	RCV000776915\|RCV001227107;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115716	108115716	NC_000011.9:g.108115716del	-
NM_000051.4(ATM):c.865A>C (p.Ile289Leu)	472	ATM	Uncertain significance	1555067259	RCV000530400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115717	108115717	NC_000011.9:g.108115717A>C	ClinGen:CA382529512	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.865A>G (p.Ile289Val)	472	ATM	Uncertain significance	1555067259	RCV000988646\|RCV001188250;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115717	108115717	11:g.108115717A>G	-
NM_000051.4(ATM):c.866T>C (p.Ile289Thr)	472	ATM	Uncertain significance	35261362	RCV000798787\|RCV001190640;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115718	108115718	11:g.108115718T>C	-
NM_000051.4(ATM):c.868C>A (p.His290Asn)	472	ATM	Uncertain significance	1591504685	RCV000809268;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115720	108115720	11:g.108115720C>A	-
NM_000051.4(ATM):c.868C>T (p.His290Tyr)	472	ATM	Uncertain significance	1591504685	RCV001037768;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115720	108115720	11:g.108115720C>T	-
NM_000051.4(ATM):c.869ATC[1] (p.His291del)	472	ATM	Uncertain significance	2135243288	RCV001976145;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115720	108115722	108115719	-
NM_000051.4(ATM):c.869A>C (p.His290Pro)	472	ATM	Uncertain significance	2135243301	RCV001866597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115721	108115721	108115721	-
NM_000051.4(ATM):c.869A>G (p.His290Arg)	472	ATM	Uncertain significance	2135243301	RCV001899655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115721	108115721	108115721	-
NM_000051.4(ATM):c.871C>G (p.His291Asp)	472	ATM	Uncertain significance	1555067280	RCV000627977\|RCV002499019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115723	108115723	11:g.108115723C>G	ClinGen:CA382529537	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.871del (p.His291fs)	472	ATM	Pathogenic	-1	RCV003023849\|RCV003274153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115723	108115723	NC_000011.9:g.108115723del	-
NM_000051.4(ATM):c.872A>G (p.His291Arg)	472	ATM	Uncertain significance	1555067285	RCV000556761\|RCV001018241\|RCV001174585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108115724	108115724	NC_000011.9:g.108115724A>G	ClinGen:CA382529539	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.873T>C (p.His291=)	472	ATM	Likely benign	1591504717	RCV002064821;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115725	108115725	11:g.108115725T>C	-
NM_000051.4(ATM):c.873del (p.Pro292fs)	472	ATM	Pathogenic	-1	RCV002852715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115725	108115725	NC_000011.9:g.108115725del	-
NM_000051.4(ATM):c.874C>T (p.Pro292Ser)	472	ATM	Uncertain significance	-1	RCV002882041;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115726	108115726	NC_000011.9:g.108115726C>T	-
NM_000051.4(ATM):c.875C>T (p.Pro292Leu)	472	ATM	Pathogenic/Likely pathogenic	747727055	RCV000220769\|RCV000255507\|RCV000526404\|RCV001658022\|RCV003165551\|RCV003468983;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|Human Phenotype Ontology:HP:0012126,MON	11	108115727	108115727	11:g.108115727C>T	ClinGen:CA6264689,UniProtKB:Q13315#VAR_010802	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.875C>G (p.Pro292Arg)	472	ATM	Uncertain significance	747727055	RCV000799317\|RCV002370106;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115727	108115727	11:g.108115727C>G	-
NM_000051.4(ATM):c.876G>A (p.Pro292=)	472	ATM	Benign/Likely benign	755860432	RCV000220083\|RCV000228448\|RCV000434328\|RCV001356035;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108115728	108115728	11:g.108115728G>A	ClinGen:CA6264690	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.876G>T (p.Pro292=)	472	ATM	Likely benign	755860432	RCV001018306\|RCV001414654;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115728	108115728	11:g.108115728G>T	-
NM_000051.4(ATM):c.877A>T (p.Lys293Ter)	472	ATM	Pathogenic/Likely pathogenic	1057516442	RCV000411113;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115729	108115729	NC_000011.9:g.108115729A>T	ClinGen:CA16041383	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.879A>G (p.Lys293=)	472	ATM	Uncertain significance	864622069	RCV000204086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115731	108115731	NC_000011.9:g.108115731A>G	ClinGen:CA348343	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.881G>A (p.Gly294Glu)	472	ATM	Uncertain significance	1370428326	RCV001070186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115733	108115733	11:g.108115733G>A	-
NM_000051.4(ATM):c.884C>A (p.Ala295Asp)	472	ATM	Uncertain significance	1044092081	RCV000483294\|RCV000575363\|RCV000628032\|RCV003463982;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115736	108115736	11:g.108115736C>A	ClinGen:CA16619101	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.884C>T (p.Ala295Val)	472	ATM	Uncertain significance	1044092081	RCV001368400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115736	108115736	108115736	-
NM_000051.4(ATM):c.885del (p.Thr297fs)	472	ATM	Pathogenic	-1	RCV002856829;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115736	108115736	NC_000011.9:g.108115737del	-
NM_000051.4(ATM):c.885C>T (p.Ala295=)	472	ATM	Likely benign	2135243805	RCV002217618;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115737	108115737	108115737	-
NM_000051.4(ATM):c.886A>G (p.Lys296Glu)	472	ATM	Uncertain significance	1591504793	RCV001018426\|RCV001860909;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115738	108115738	11:g.108115738A>G	-
NM_000051.4(ATM):c.887A>G (p.Lys296Arg)	472	ATM	Uncertain significance	1064795297	RCV000478072\|RCV002376882\|RCV002525879;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115739	108115739	11:g.108115739A>G	ClinGen:CA16619102	CN169374 not specified;
NM_000051.4(ATM):c.887A>C (p.Lys296Thr)	472	ATM	Uncertain significance	1064795297	RCV000562145\|RCV001231011;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115739	108115739	11:g.108115739A>C	ClinGen:CA382529598	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.888A>C (p.Lys296Asn)	472	ATM	Uncertain significance	1023530965	RCV001221201;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115740	108115740	11:g.108115740A>C	-
NM_000051.4(ATM):c.888A>G (p.Lys296=)	472	ATM	Likely benign	1023530965	RCV002078145;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115740	108115740	108115740	-
NM_000051.4(ATM):c.891C>G (p.Thr297=)	472	ATM	Likely benign	575285986	RCV000220241\|RCV000468934;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115743	108115743	11:g.108115743C>G	ClinGen:CA10578980	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.891C>T (p.Thr297=)	472	ATM	Likely benign	-1	RCV003033974;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115743	108115743		-
NM_000051.4(ATM):c.892C>T (p.Gln298Ter)	472	ATM	Pathogenic	2079775247	RCV001241346;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115744	108115744	11:g.108115744C>T	-
NM_000051.4(ATM):c.893A>C (p.Gln298Pro)	472	ATM	Uncertain significance	2079775401	RCV001315605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115745	108115745	108115745	-
NM_000051.4(ATM):c.894A>G (p.Gln298=)	472	ATM	Likely benign	-1	RCV002376195\|RCV003103543;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115746	108115746		-
NM_000051.4(ATM):c.900dup (p.Gly301fs)	472	ATM	Pathogenic	1555067335	RCV001387686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115747	108115748	108115747	-
NM_000051.4(ATM):c.896A>G (p.Glu299Gly)	472	ATM	Uncertain significance	587779876	RCV000572498\|RCV001826783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115748	108115748	NC_000011.9:g.108115748A>G	ClinGen:CA287039	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.900del (p.Gly301fs)	472	ATM	Pathogenic/Likely pathogenic	1555067335	RCV000571091\|RCV001004343;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115748	108115748	11:g.108115748_108115748del	ClinGen:CA658656193	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.896A>T (p.Glu299Val)	472	ATM	Uncertain significance	587779876	RCV001070306\|RCV002256678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115748	108115748	11:g.108115748A>T	-
NM_000051.4(ATM):c.897A>G (p.Glu299=)	472	ATM	Likely benign	2135244327	RCV002159581;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115749	108115749	108115749	-
NM_000051.4(ATM):c.901G>A (p.Gly301Ser)	472	ATM	Conflicting interpretations of pathogenicity	1064797160	RCV000487981\|RCV000579975\|RCV000821980\|RCV001171411;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115753	108115753	11:g.108115753G>A	ClinGen:CA16621626	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.901+1_901+26del	472	ATM	Likely pathogenic	1380265721	RCV000792989;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115753	108115778	11:g.108115753_108115778del	-
NM_000051.4(ATM):c.901G>C (p.Gly301Arg)	472	ATM	Conflicting interpretations of pathogenicity	1064797160	RCV001302768\|RCV002375368;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115753	108115753	108115753	-
NM_000051.4(ATM):c.901+1G>A	472	ATM	Pathogenic	748840480	RCV000166407\|RCV000205735\|RCV000515230\|RCV003474877;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MO	11	108115754	108115754	11:g.108115754G>A	ClinGen:CA195792	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.901+1G>T	472	ATM	Pathogenic/Likely pathogenic	748840480	RCV000216527\|RCV001379229\|RCV003469102;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108115754	108115754	11:g.108115754G>T	ClinGen:CA10578981	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.901+2delinsAA	472	ATM	Pathogenic	1555067355	RCV000627986;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115755	108115755	NC_000011.9:g.108115755delinsAA	ClinGen:CA658797778	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.901+2T>G	472	ATM	Likely pathogenic	-1	RCV003340940;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115755	108115755		-
NM_000051.4(ATM):c.901+3A>G	472	ATM	Uncertain significance	786203070	RCV001916689;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115756	108115756	108115756	-
NM_000051.4(ATM):c.901+4T>G	472	ATM	Uncertain significance	1591504958	RCV000819686\|RCV001189313;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115757	108115757	11:g.108115757T>G	-
NM_000051.4(ATM):c.901+4T>A	472	ATM	Uncertain significance	-1	RCV002828340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115757	108115757	NC_000011.9:g.108115757T>A	-
NM_000051.4(ATM):c.901+6A>C	472	ATM	Conflicting interpretations of pathogenicity	1555067357	RCV000544763;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115759	108115759	11:g.108115759A>C	ClinGen:CA658656194	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.901+7A>G	472	ATM	Likely benign	1057523569	RCV000428204\|RCV000580308\|RCV000941443;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115760	108115760	11:g.108115760A>G	ClinGen:CA16606778	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.901+8G>A	472	ATM	Likely benign	1468806933	RCV001184125\|RCV002068374;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115761	108115761	11:g.108115761G>A	-
NM_000051.4(ATM):c.901+10A>T	472	ATM	Uncertain significance	2135244818	RCV002010815\|RCV003170540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108115763	108115763	108115763	-
NM_000051.4(ATM):c.901+12A>G	472	ATM	Likely benign	759379354	RCV000441539\|RCV000579832\|RCV002061332;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115765	108115765	11:g.108115765A>G	ClinGen:CA6264692	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.901+14G>A	472	ATM	Likely benign	2079777585	RCV002202348;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115767	108115767	108115767	-
NM_000051.4(ATM):c.901+15T>A	472	ATM	Likely benign	2135244985	RCV002194490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115768	108115768	108115768	-
NM_000051.4(ATM):c.901+17T>C	472	ATM	Likely benign	774302699	RCV000777653\|RCV002068535;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115770	108115770	NC_000011.9:g.108115770T>C	-
NM_000051.4(ATM):c.901+18A>G	472	ATM	Likely benign	1555067368	RCV000583827\|RCV002529205;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115771	108115771	NC_000011.9:g.108115771A>G	ClinGen:CA658683754	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.901+20T>C	472	ATM	Likely benign	2135245162	RCV002220599;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108115773	108115773	108115773	-
NM_000051.4(ATM):c.902-22A>C	472	ATM	Likely benign	766650801	RCV000988647;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117669	108117669	11:g.108117669A>C	-
NC_000011.9:g.(?_108117671)_(108160548_?)dup	472	ATM	Likely pathogenic	-1	RCV001378452;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117671	108160548	-1	-
NM_000051.4(ATM):c.902-17A>T	472	ATM	Likely benign	-1	RCV002991404;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117674	108117674	NC_000011.9:g.108117674A>T	-
NM_000051.4(ATM):c.902-15T>C	472	ATM	Likely benign	2135264272	RCV002180528;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117676	108117676	108117676	-
NC_000011.10:g.(?_108246954)_(108247137_?)del	472	ATM	Pathogenic	-1	RCV000708255;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117681	108117864		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108246954)_(108289811_?)dup	472	ATM	Likely pathogenic	-1	RCV001032148;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117681	108160538	-1	-
NM_000051.4(ATM):c.902-10T>C	472	ATM	Likely benign	2135264378	RCV001418523\|RCV001581123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108117681	108117681	108117681	-
NM_000051.4(ATM):c.902-8G>T	472	ATM	Likely benign	-1	RCV002914178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117683	108117683	NC_000011.9:g.108117683G>T	-
NM_000051.4(ATM):c.902-7A>G	472	ATM	Likely benign	2135264458	RCV001502986;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117684	108117684	108117684	-
NM_000051.4(ATM):c.902-4A>G	472	ATM	Likely benign	1416161750	RCV001436833\|RCV003307740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117687	108117687	11:g.108117687A>G	-
NM_000051.4(ATM):c.902-3C>T	472	ATM	Uncertain significance	-1	RCV002680676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117688	108117688	NC_000011.9:g.108117688C>T	-
NM_000051.4(ATM):c.902-2A>G	472	ATM	Likely pathogenic	2079877131	RCV001225115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117689	108117689	11:g.108117689A>G	-
NM_000051.4(ATM):c.902-1G>T	472	ATM	Pathogenic	1064793518	RCV000478968\|RCV000493667\|RCV000685477\|RCV002289623;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117690	108117690	11:g.108117690G>T	ClinGen:CA16619104	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.902-1G>A	472	ATM	Pathogenic/Likely pathogenic	1064793518	RCV001018665\|RCV002549482;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117690	108117690	11:g.108117690G>A	-
NM_000051.4(ATM):c.902G>A (p.Gly301Asp)	472	ATM	Uncertain significance	202208861	RCV000168392\|RCV000221865\|RCV000585382\|RCV001355167\|RCV001762393\|RCV001818406\|RCV002485047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN16	11	108117691	108117691	11:g.108117691G>A	ClinGen:CA334716	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.902G>T (p.Gly301Val)	472	ATM	Uncertain significance	202208861	RCV001939077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117691	108117691	108117691	-
NM_000051.4(ATM):c.903T>G (p.Gly301=)	472	ATM	Likely benign	876659335	RCV000223600\|RCV000533192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117692	108117692	11:g.108117692T>G	ClinGen:CA10578982	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.903T>A (p.Gly301=)	472	ATM	Likely benign	876659335	RCV000982171\|RCV003169514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117692	108117692	11:g.108117692T>A	-
NM_000051.4(ATM):c.905C>T (p.Ala302Val)	472	ATM	Uncertain significance	778442248	RCV000569975\|RCV001348446;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117694	108117694	11:g.108117694C>T	ClinGen:CA6264710	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.908A>G (p.Tyr303Cys)	472	ATM	Uncertain significance	-1	RCV002837565;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117697	108117697	NC_000011.9:g.108117697A>G	-
NM_000051.4(ATM):c.909T>C (p.Tyr303=)	472	ATM	Likely benign	1555068288	RCV000603352\|RCV003278945\|RCV002063874;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117698	108117698	11:g.108117698T>C	ClinGen:CA476671498	CN169374 not specified;
NM_000051.4(ATM):c.911A>C (p.Glu304Ala)	472	ATM	Uncertain significance	2135264712	RCV001524102\|RCV001872017;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117700	108117700	108117700	-
NM_000051.4(ATM):c.912A>G (p.Glu304=)	472	ATM	Likely benign	1286754263	RCV000582353\|RCV001391929;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117701	108117701	NC_000011.9:g.108117701A>G	ClinGen:CA476671499	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.912A>C (p.Glu304Asp)	472	ATM	Uncertain significance	-1	RCV003017866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117701	108117701	NC_000011.9:g.108117701A>C	-
NM_000051.4(ATM):c.914del (p.Glu304_Ser305insTer)	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002663391\|RCV003465812;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117703	108117703	NC_000011.9:g.108117703del	-
NM_000051.4(ATM):c.916A>G (p.Thr306Ala)	472	ATM	Uncertain significance	1555068304	RCV000547848\|RCV000575483;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117705	108117705	NC_000011.9:g.108117705A>G	ClinGen:CA382530530	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.917C>A (p.Thr306Lys)	472	ATM	Uncertain significance	1565374923	RCV001206595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117706	108117706	11:g.108117706C>A	-
NM_000051.4(ATM):c.917C>T (p.Thr306Ile)	472	ATM	Uncertain significance	1565374923	RCV001894975\|RCV002370409;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117706	108117706	108117706	-
NM_000051.4(ATM):c.920_921del (p.Lys307fs)	472	ATM	Pathogenic	2135264840	RCV001388842;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117707	108117708	108117706	-
NM_000051.4(ATM):c.921A>T (p.Lys307Asn)	472	ATM	Uncertain significance	1555068322	RCV000579525\|RCV000822799\|RCV003465290;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117710	108117710	NC_000011.9:g.108117710A>T	ClinGen:CA382530569	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.922T>C (p.Trp308Arg)	472	ATM	Uncertain significance	2079878501	RCV001314083;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117711	108117711	108117711	-
NM_000051.4(ATM):c.922T>A (p.Trp308Arg)	472	ATM	Uncertain significance	2079878501	RCV001341677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117711	108117711	108117711	-
NM_000051.4(ATM):c.925A>G (p.Arg309Gly)	472	ATM	Uncertain significance	876659841	RCV000219693\|RCV000627923;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117714	108117714	11:g.108117714A>G	ClinGen:CA10578983	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.925A>C (p.Arg309=)	472	ATM	Likely benign	876659841	RCV000983512\|RCV001019076;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117714	108117714	11:g.108117714A>C	-
NM_000051.4(ATM):c.927A>T (p.Arg309Ser)	472	ATM	Uncertain significance	935834518	RCV000699619\|RCV001766523\|RCV002369911;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117716	108117716	NC_000011.9:g.108117716A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.927A>G (p.Arg309=)	472	ATM	Likely benign	935834518	RCV000938272;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117716	108117716	11:g.108117716A>G	-
NM_000051.4(ATM):c.927A>C (p.Arg309Ser)	472	ATM	Uncertain significance	-1	RCV002740858;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117716	108117716	NC_000011.9:g.108117716A>C	-
NM_000051.4(ATM):c.928A>G (p.Ser310Gly)	472	ATM	Conflicting interpretations of pathogenicity	745773225	RCV000167964\|RCV000219840\|RCV000481289\|RCV003338436;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117717	108117717	11:g.108117717A>G	ClinGen:CA334063	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.929del (p.Ser310fs)	472	ATM	Pathogenic	1591510597	RCV000809437\|RCV002370171\|RCV003155960;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117718	108117718	11:g.108117718_108117718del	-
NM_000051.4(ATM):c.929G>A (p.Ser310Asn)	472	ATM	Uncertain significance	2079879169	RCV001065697;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117718	108117718	11:g.108117718G>A	-
NM_000051.4(ATM):c.931A>G (p.Ile311Val)	472	ATM	Uncertain significance	876658322	RCV000216322\|RCV000471282\|RCV000586464;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108117720	108117720	11:g.108117720A>G	ClinGen:CA10578984	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCT	472	ATM	Pathogenic	2079879604	RCV001381841;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117720	108117721	108117720	-
NM_000051.4(ATM):c.932T>C (p.Ile311Thr)	472	ATM	Uncertain significance	1462079674	RCV001343376\|RCV002377455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117721	108117721	108117721	-
NM_000051.4(ATM):c.935_936insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTNNNATCCGCCCGCCTCGGCCTCCCAAAGTGCT	472	ATM	Pathogenic	-1	RCV001380385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117721	108117722	108117720	-
NM_000051.4(ATM):c.936A>C (p.Leu312Phe)	472	ATM	Uncertain significance	587782257	RCV000130970\|RCV000470878\|RCV000482073\|RCV003467162;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117725	108117725	11:g.108117725A>C	ClinGen:CA167475	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.936A>G (p.Leu312=)	472	ATM	Likely benign	587782257	RCV000166805\|RCV000464834\|RCV001540032;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108117725	108117725	11:g.108117725A>G	ClinGen:CA196772	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.939C>T (p.Tyr313=)	472	ATM	Likely benign	1387179773	RCV001460640;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117728	108117728	108117728	-
NM_000051.4(ATM):c.940A>C (p.Asn314His)	472	ATM	Uncertain significance	2079880133	RCV001220863;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117729	108117729	11:g.108117729A>C	-
NM_000051.4(ATM):c.941A>G (p.Asn314Ser)	472	ATM	Uncertain significance	886047610	RCV000348537\|RCV000775012\|RCV001753764;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108117730	108117730	NC_000011.9:g.108117730A>G	ClinGen:CA10633306	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.943_944del (p.Leu315fs)	472	ATM	Pathogenic	768024233	RCV001245976\|RCV001526212\|RCV003155967;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117732	108117733	11:g.108117732_108117733del	-
NM_000051.4(ATM):c.943T>C (p.Leu315=)	472	ATM	Likely benign	-1	RCV003011624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117732	108117732		-
NM_000051.4(ATM):c.947_948del (p.Leu315_Tyr316insTer)	472	ATM	Pathogenic/Likely pathogenic	2135265742	RCV001919105\|RCV003471044;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117733	108117734	108117732	-
NM_000051.4(ATM):c.945dup (p.Tyr316fs)	472	ATM	Pathogenic	2135265770	RCV001901033\|RCV002275275\|RCV003155978;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117733	108117734	108117733	-
NM_000051.4(ATM):c.947_951del (p.Tyr316fs)	472	ATM	Pathogenic	1565375055	RCV000707730;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117734	108117738	NC_000011.9:g.108117736_108117740del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.946T>C (p.Tyr316His)	472	ATM	Conflicting interpretations of pathogenicity	142317485	RCV000204232\|RCV000234905\|RCV000486900\|RCV001818502\|RCV003468951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117735	108117735	NC_000011.9:g.108117735T>C	ClinGen:CA348479	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.946T>A (p.Tyr316Asn)	472	ATM	Uncertain significance	142317485	RCV000475880\|RCV001192345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117735	108117735	NC_000011.9:g.108117735T>A	ClinGen:CA16612976	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.947A>G (p.Tyr316Cys)	472	ATM	Uncertain significance	1340280916	RCV000817873\|RCV001019378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117736	108117736	11:g.108117736A>G	-
NM_000051.4(ATM):c.948T>C (p.Tyr316=)	472	ATM	Likely benign	775091961	RCV001526003\|RCV002070333;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117737	108117737	108117737	-
NM_000051.4(ATM):c.949G>T (p.Asp317Tyr)	472	ATM	Uncertain significance	1445292591	RCV000573160\|RCV002527968;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117738	108117738	11:g.108117738G>T	ClinGen:CA382530854	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.951T>G (p.Asp317Glu)	472	ATM	Uncertain significance	876659199	RCV000213497\|RCV000779776\|RCV001833224;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117740	108117740	11:g.108117740T>G	ClinGen:CA10578985	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.954_956del (p.Leu319del)	472	ATM	Uncertain significance	2135266014	RCV001882375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117741	108117743	108117740	-
NM_000051.4(ATM):c.956T>C (p.Leu319Pro)	472	ATM	Uncertain significance	-1	RCV002815916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117745	108117745	NC_000011.9:g.108117745T>C	-
NM_000051.4(ATM):c.957A>G (p.Leu319=)	472	ATM	Conflicting interpretations of pathogenicity	1060501542	RCV000458981\|RCV002379442;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117746	108117746	NC_000011.9:g.108117746A>G	ClinGen:CA16613305	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.958G>A (p.Val320Met)	472	ATM	Uncertain significance	1060501655	RCV000461531\|RCV002379444\|RCV003470433\|RCV003401470;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|	11	108117747	108117747	NC_000011.9:g.108117747G>A	ClinGen:CA16613057	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.961A>G (p.Asn321Asp)	472	ATM	Uncertain significance	1591510765	RCV000822132\|RCV002381869;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117750	108117750	11:g.108117750A>G	-
NM_000051.4(ATM):c.964_968del (p.Glu322fs)	472	ATM	Pathogenic	1555068404	RCV000575233\|RCV000792271;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117751	108117755	NC_000011.9:g.108117753_108117757del	ClinGen:CA658656195	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.962A>G (p.Asn321Ser)	472	ATM	Uncertain significance	1555068398	RCV000561753\|RCV000587548\|RCV000698316;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117751	108117751	11:g.108117751A>G	ClinGen:CA382530951	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.963T>C (p.Asn321=)	472	ATM	Likely benign	863224301	RCV001492243;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117752	108117752	11:g.108117752T>C	ClinGen:CA337933	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.967A>G (p.Ile323Val)	472	ATM	Pathogenic/Likely pathogenic	587781511	RCV000129488\|RCV000486107\|RCV000675169\|RCV002483260;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108117756	108117756	11:g.108117756A>G	ClinGen:CA164527,UniProtKB:Q13315#VAR_010803	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.967del (p.Glu322_Ile323insTer)	472	ATM	Pathogenic	2135266498	RCV001914883;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117756	108117756	108117755	-
NM_000051.4(ATM):c.968T>G (p.Ile323Arg)	472	ATM	Uncertain significance	2079882407	RCV001211778;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117757	108117757	11:g.108117757T>G	-
NM_000051.4(ATM):c.968T>A (p.Ile323Lys)	472	ATM	Uncertain significance	2079882407	RCV001988549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117757	108117757	108117757	-
NM_000051.4(ATM):c.969A>G (p.Ile323Met)	472	ATM	Uncertain significance	1565375220	RCV000709164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117758	108117758	NC_000011.9:g.108117758A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.972_979del (p.Ser324fs)	472	ATM	Pathogenic	2135266573	RCV001950999\|RCV002386819;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117759	108117766	108117758	-
NM_000051.4(ATM):c.971G>A (p.Ser324Asn)	472	ATM	Uncertain significance	1355502804	RCV002015086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117760	108117760	108117760	-
NM_000051.4(ATM):c.977_978del (p.Ile326fs)	472	ATM	Pathogenic/Likely pathogenic	876658832	RCV000216433\|RCV000687281\|RCV003469019;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117763	108117764	11:g.108117763_108117764del	ClinGen:CA10578987	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.974A>T (p.His325Leu)	472	ATM	Uncertain significance	1565375244	RCV000687539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117763	108117763	NC_000011.9:g.108117763A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.974A>C (p.His325Pro)	472	ATM	Uncertain significance	1565375244	RCV001190505\|RCV001876227;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117763	108117763	11:g.108117763A>C	-
NM_000051.4(ATM):c.974A>G (p.His325Arg)	472	ATM	Uncertain significance	1565375244	RCV001799148\|RCV002034666\|RCV002386569;	N	MedGen:CN221562\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117763	108117763	108117763	-
NM_000051.4(ATM):c.975T>C (p.His325=)	472	ATM	Likely benign	746825207	RCV000166684\|RCV000841454\|RCV001439125;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117764	108117764	11:g.108117764T>C	ClinGen:CA196475	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.975T>A (p.His325Gln)	472	ATM	Uncertain significance	746825207	RCV002050675;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117764	108117764	108117764	-
NM_000051.4(ATM):c.976A>G (p.Ile326Val)	472	ATM	Uncertain significance	1555068422	RCV000528412\|RCV000708662\|RCV003470689;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117765	108117765	NC_000011.9:g.108117765A>G	ClinGen:CA382531103	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.976A>T (p.Ile326Leu)	472	ATM	Uncertain significance	1555068422	RCV001019732\|RCV001860957;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117765	108117765	11:g.108117765A>T	-
NM_000051.4(ATM):c.977T>C (p.Ile326Thr)	472	ATM	Uncertain significance	768720856	RCV000222223\|RCV001038222\|RCV001658040\|RCV003469071;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117766	108117766	11:g.108117766T>C	ClinGen:CA10578986	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.978A>G (p.Ile326Met)	472	ATM	Uncertain significance	1555068424	RCV000572376\|RCV001273625;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117767	108117767	11:g.108117767A>G	ClinGen:CA382531116	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.978del (p.Ile326fs)	472	ATM	Pathogenic	1565375308	RCV000704859;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117767	108117767	11:g.108117767_108117767del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.980del (p.Gly327fs)	472	ATM	Pathogenic	1331064724	RCV001972509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117768	108117768	108117767	-
NM_000051.4(ATM):c.979G>A (p.Gly327Arg)	472	ATM	Uncertain significance	-1	RCV002387217\|RCV003094875;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117768	108117768	108117768	-
NM_000051.4(ATM):c.980G>A (p.Gly327Glu)	472	ATM	Uncertain significance	1591510902	RCV000798766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117769	108117769	11:g.108117769G>A	-
NM_000051.4(ATM):c.984_986del (p.Ser328del)	472	ATM	Uncertain significance	876659593	RCV000213925\|RCV000627952\|RCV003469052;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117771	108117773	11:g.108117771_108117773del	ClinGen:CA10578988	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.982A>C (p.Ser328Arg)	472	ATM	Uncertain significance	1555068433	RCV000581170\|RCV001860070;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117771	108117771	NC_000011.9:g.108117771A>C	ClinGen:CA382531145	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.982A>G (p.Ser328Gly)	472	ATM	Uncertain significance	1555068433	RCV001062345\|RCV003467817;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117771	108117771	11:g.108117771A>G	-
NM_000051.4(ATM):c.983G>A (p.Ser328Asn)	472	ATM	Uncertain significance	2135267189	RCV001917027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117772	108117772	108117772	-
NM_000051.4(ATM):c.985A>G (p.Arg329Gly)	472	ATM	Uncertain significance	1591510933	RCV000803053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117774	108117774	11:g.108117774A>G	-
NM_000051.4(ATM):c.986G>A (p.Arg329Lys)	472	ATM	Uncertain significance	776938735	RCV000227018\|RCV000574680\|RCV003224232\|RCV003441806\|RCV003463634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108117775	108117775	NC_000011.9:g.108117775G>A	ClinGen:CA6264714	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.986G>C (p.Arg329Thr)	472	ATM	Uncertain significance	776938735	RCV001019832\|RCV001045637;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117775	108117775	11:g.108117775G>C	-
NM_000051.4(ATM):c.988G>A (p.Gly330Arg)	472	ATM	Uncertain significance	2135267332	RCV001910299;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117777	108117777	108117777	-
NM_000051.4(ATM):c.989G>A (p.Gly330Glu)	472	ATM	Uncertain significance	762179829	RCV000457335\|RCV002379443\|RCV003470425;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117778	108117778	NC_000011.9:g.108117778G>A	ClinGen:CA16613258	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.989G>C (p.Gly330Ala)	472	ATM	Uncertain significance	762179829	RCV000561901\|RCV001238128\|RCV002281114;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108117778	108117778	11:g.108117778G>C	ClinGen:CA6264715	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.992del (p.Lys331fs)	472	ATM	Pathogenic	1060501684	RCV000465851\|RCV001183453;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117779	108117779	NC_000011.9:g.108117781del	ClinGen:CA16613058	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.991A>G (p.Lys331Glu)	472	ATM	Uncertain significance	1555068451	RCV000573165\|RCV001062842;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117780	108117780	NC_000011.9:g.108117780A>G	ClinGen:CA382531245	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.992A>T (p.Lys331Met)	472	ATM	Uncertain significance	2079885179	RCV001302231;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117781	108117781	108117781	-
NM_000051.4(ATM):c.993G>A (p.Lys331=)	472	ATM	Likely benign	786202048	RCV000164667\|RCV000468472\|RCV001577634;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108117782	108117782	11:g.108117782G>A	ClinGen:CA191509	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.993G>T (p.Lys331Asn)	472	ATM	Uncertain significance	786202048	RCV001953341\|RCV002386785;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117782	108117782	108117782	-
NM_000051.4(ATM):c.995A>T (p.Tyr332Phe)	472	ATM	Uncertain significance	1060501664	RCV000466092;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117784	108117784	NC_000011.9:g.108117784A>T	ClinGen:CA16613307	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.995A>G (p.Tyr332Cys)	472	ATM	Uncertain significance	1060501664	RCV000798104\|RCV002386409;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117784	108117784	11:g.108117784A>G	-
NM_000051.4(ATM):c.996T>C (p.Tyr332=)	472	ATM	Likely benign	1476261420	RCV001464543\|RCV003372929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117785	108117785	11:g.108117785T>C	-
NM_000051.4(ATM):c.998C>T (p.Ser333Phe)	472	ATM	Conflicting interpretations of pathogenicity	28904919	RCV000115277\|RCV000120169\|RCV000586032\|RCV000988648\|RCV001262803\|RCV001798328\|RCV002225327;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN221562\|MONDO:MONDO:000	11	108117787	108117787	11:g.108117787C>T	ClinGen:CA157204,UniProtKB:Q13315#VAR_041548	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1001C>G (p.Ser334Ter)	472	ATM	Pathogenic	-1	RCV002383236\|RCV003094922;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117790	108117790	108117790	-
NM_000051.4(ATM):c.1003G>T (p.Gly335Ter)	472	ATM	Pathogenic/Likely pathogenic	1555068471	RCV000566562\|RCV000689138;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117792	108117792	11:g.108117792G>T	ClinGen:CA382531372	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1004G>A (p.Gly335Glu)	472	ATM	Uncertain significance	1440510829	RCV000799355\|RCV001009667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117793	108117793	11:g.108117793G>A	-
NM_000051.4(ATM):c.1008del (p.Arg337fs)	472	ATM	Pathogenic	2079886452	RCV001045136;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117795	108117795	11:g.108117795_108117795del	-
NM_000051.4(ATM):c.1007T>G (p.Phe336Cys)	472	ATM	Uncertain significance	1018587967	RCV000551994;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117796	108117796	NC_000011.9:g.108117796T>G	ClinGen:CA228386405	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1008T>C (p.Phe336=)	472	ATM	Likely benign	1555068492	RCV002165002;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117797	108117797	108117797	-
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys)	472	ATM	Conflicting interpretations of pathogenicity	138398778	RCV000115130\|RCV000168399\|RCV000656756\|RCV000780894\|RCV001356891\|RCV001762215;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108117798	108117798	NC_000011.9:g.108117798C>T	ClinGen:CA286702,UniProtKB:Q13315#VAR_041549	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1009C>A (p.Arg337Ser)	472	ATM	Uncertain significance	138398778	RCV000215933\|RCV001039882;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117798	108117798	11:g.108117798C>A	ClinGen:CA6264718	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1010G>A (p.Arg337His)	472	ATM	Conflicting interpretations of pathogenicity	202160435	RCV000115131\|RCV000211955\|RCV000204640\|RCV001174655\|RCV001257472\|RCV001354564;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C000	11	108117799	108117799	NC_000011.9:g.108117799G>A	ClinGen:CA286705,UniProtKB:Q13315#VAR_041550	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1010G>T (p.Arg337Leu)	472	ATM	Uncertain significance	202160435	RCV001055891\|RCV001185821;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117799	108117799	11:g.108117799G>T	-
NM_000051.4(ATM):c.1012A>C (p.Asn338His)	472	ATM	Uncertain significance	751800302	RCV000777134\|RCV002274099\|RCV002535595;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117801	108117801	NC_000011.9:g.108117801A>C	-
NM_000051.4(ATM):c.1012A>G (p.Asn338Asp)	472	ATM	Uncertain significance	751800302	RCV001247176\|RCV002451607;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117801	108117801	11:g.108117801A>G	-
NM_000051.4(ATM):c.1014T>C (p.Asn338=)	472	ATM	Likely benign	1555068510	RCV000532981;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117803	108117803	NC_000011.9:g.108117803T>C	ClinGen:CA476671562	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1017del (p.Ile339fs)	472	ATM	Pathogenic/Likely pathogenic	1469427343	RCV000541022\|RCV000571071\|RCV003470663;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117805	108117805	NC_000011.9:g.108117806del	ClinGen:CA602132501	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1016T>C (p.Ile339Thr)	472	ATM	Uncertain significance	2079887536	RCV001046503\|RCV002339235;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117805	108117805	11:g.108117805T>C	-
NM_000051.4(ATM):c.1019C>G (p.Ala340Gly)	472	ATM	Uncertain significance	730881387	RCV000159757\|RCV000227230\|RCV002362848;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117808	108117808	NC_000011.9:g.108117808C>G	ClinGen:CA298333	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1019C>A (p.Ala340Asp)	472	ATM	Uncertain significance	730881387	RCV000218921\|RCV001367304;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117808	108117808	11:g.108117808C>A	ClinGen:CA10578990	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1019C>T (p.Ala340Val)	472	ATM	Uncertain significance	730881387	RCV000700634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117808	108117808	NC_000011.9:g.108117808C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1020C>A (p.Ala340=)	472	ATM	Benign/Likely benign	546927781	RCV000122815\|RCV000163834\|RCV000437511\|RCV001704040;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108117809	108117809	NC_000011.9:g.108117809C>A	ClinGen:CA189304	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1020C>T (p.Ala340=)	472	ATM	Likely benign	546927781	RCV000571340\|RCV000826705\|RCV001081254\|RCV001199848;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108117809	108117809	NC_000011.9:g.108117809C>T	ClinGen:CA6264720	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1021G>A (p.Val341Ile)	472	ATM	Conflicting interpretations of pathogenicity	200601781	RCV000120170\|RCV000167222\|RCV000234064\|RCV000657017\|RCV002288608;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117810	108117810	11:g.108117810G>A	ClinGen:CA157207	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1023C>T (p.Val341=)	472	ATM	Likely benign	35728619	RCV001494437\|RCV003307783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117812	108117812	11:g.108117812C>T	-
NM_000051.4(ATM):c.1027_1030del (p.Glu343fs)	472	ATM	Pathogenic/Likely pathogenic	587780612	RCV000122816\|RCV000129901\|RCV000236560\|RCV003460865;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117813	108117816	NC_000011.9:g.108117816_108117819del	ClinGen:CA165318	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1025A>C (p.Lys342Thr)	472	ATM	Uncertain significance	1064794119	RCV000481435\|RCV001017012\|RCV002525816;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117814	108117814	11:g.108117814A>C	ClinGen:CA16619105	CN169374 not specified;
NM_000051.4(ATM):c.1025A>G (p.Lys342Arg)	472	ATM	Uncertain significance	1064794119	RCV000571690\|RCV000792012\|RCV001662615;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108117814	108117814	11:g.108117814A>G	ClinGen:CA382531582	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1027G>A (p.Glu343Lys)	472	ATM	Uncertain significance	2135268427	RCV001944692;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117816	108117816	108117816	-
NM_000051.4(ATM):c.1029A>G (p.Glu343=)	472	ATM	Likely benign	778388800	RCV001411016;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117818	108117818	108117818	-
NM_000051.4(ATM):c.1030A>T (p.Asn344Tyr)	472	ATM	Uncertain significance	587782526	RCV000131714\|RCV000808748;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117819	108117819	11:g.108117819A>T	ClinGen:CA168644	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1037_1040del (p.Ile346fs)	472	ATM	Pathogenic	2135268548	RCV001386149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117822	108117825	108117821	-
NM_000051.4(ATM):c.1034T>C (p.Leu345Ser)	472	ATM	Uncertain significance	-1	RCV002295890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117823	108117823	108117823	-
NM_000051.4(ATM):c.1035G>A (p.Leu345=)	472	ATM	Likely benign	2135268584	RCV002169024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117824	108117824	108117824	-
NM_000051.4(ATM):c.1036A>G (p.Ile346Val)	472	ATM	Uncertain significance	1565375699	RCV000704026\|RCV002388332\|RCV003442050;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108117825	108117825	11:g.108117825A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1036del (p.Ile346fs)	472	ATM	Pathogenic	1565375710	RCV000703567;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117825	108117825	11:g.108117825_108117825del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1037T>A (p.Ile346Asn)	472	ATM	Uncertain significance	1060501526	RCV000471366\|RCV001524369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117826	108117826	NC_000011.9:g.108117826T>A	ClinGen:CA16612980	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1038T>G (p.Ile346Met)	472	ATM	Uncertain significance	749950833	RCV000568207\|RCV000692599;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117827	108117827	11:g.108117827T>G	ClinGen:CA382531679	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1038T>A (p.Ile346=)	472	ATM	Likely benign	749950833	RCV001017107\|RCV001462200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117827	108117827	11:g.108117827T>A	-
NM_000051.4(ATM):c.1039G>C (p.Glu347Gln)	472	ATM	Uncertain significance	529202615	RCV000476639;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117828	108117828	NC_000011.9:g.108117828G>C	ClinGen:CA16613261	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1039_1040delinsTT (p.Glu347Leu)	472	ATM	Uncertain significance	1555068567	RCV000575328\|RCV000700077\|RCV003159960;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108117828	108117829	NC_000011.9:g.108117828_108117829delinsTT	ClinGen:CA658656200	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1041A>G (p.Glu347=)	472	ATM	Likely benign	2135268758	RCV001439582;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117830	108117830	108117830	-
NM_000051.4(ATM):c.1042T>C (p.Leu348=)	472	ATM	Likely benign	746733866	RCV001425512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117831	108117831	108117831	-
NM_000051.4(ATM):c.1043T>C (p.Leu348Ser)	472	ATM	Uncertain significance	2079890107	RCV001297072\|RCV003284145;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117832	108117832	108117832	-
NM_000051.4(ATM):c.1044G>T (p.Leu348Phe)	472	ATM	Uncertain significance	879254039	RCV000236391\|RCV000568253\|RCV001036714;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117833	108117833	NC_000011.9:g.108117833G>T	ClinGen:CA10584317	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1044G>A (p.Leu348=)	472	ATM	Likely benign	879254039	RCV000564575\|RCV000614330\|RCV000936816;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117833	108117833	NC_000011.9:g.108117833G>A	ClinGen:CA476671574	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1044_1045del (p.Leu348fs)	472	ATM	Pathogenic/Likely pathogenic	2079890365	RCV001035864\|RCV003467706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117833	108117834	11:g.108117833_108117834del	-
NM_000051.4(ATM):c.1045_1052del (p.Met349fs)	472	ATM	Pathogenic/Likely pathogenic	1565375817	RCV000706599\|RCV002397485\|RCV003336157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117834	108117841	NC_000011.9:g.108117834_108117841del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1045A>T (p.Met349Leu)	472	ATM	Uncertain significance	-1	RCV003022315;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117834	108117834	NC_000011.9:g.108117834A>T	-
NM_000051.4(ATM):c.1046T>C (p.Met349Thr)	472	ATM	Uncertain significance	1555068577	RCV000627897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117835	108117835	11:g.108117835T>C	ClinGen:CA382531739	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1046T>G (p.Met349Arg)	472	ATM	Uncertain significance	1555068577	RCV001047444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117835	108117835	11:g.108117835T>G	-
NM_000051.4(ATM):c.1047G>A (p.Met349Ile)	472	ATM	Uncertain significance	768480943	RCV000235762\|RCV000471228\|RCV000579935;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117836	108117836	NC_000011.9:g.108117836G>A	ClinGen:CA6264727	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1048G>A (p.Ala350Thr)	472	ATM	Uncertain significance	371713984	RCV000235302\|RCV000574311\|RCV001221586;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117837	108117837	NC_000011.9:g.108117837G>A	ClinGen:CA10584318,UniProtKB:Q13315#VAR_010805	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1049C>T (p.Ala350Val)	472	ATM	Uncertain significance	375049090	RCV000230455\|RCV000564026\|RCV002487044;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117838	108117838	NC_000011.9:g.108117838C>T	ClinGen:CA10582789	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1050A>G (p.Ala350=)	472	ATM	Likely benign	1591511442	RCV001427889\|RCV002400091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117839	108117839	11:g.108117839A>G	-
NM_000051.4(ATM):c.1051G>A (p.Asp351Asn)	472	ATM	Uncertain significance	876659092	RCV000214187\|RCV000459705\|RCV000481530\|RCV002500731;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108117840	108117840	11:g.108117840G>A	ClinGen:CA10578991	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1051G>C (p.Asp351His)	472	ATM	Uncertain significance	876659092	RCV000236104\|RCV001239206;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117840	108117840	NC_000011.9:g.108117840G>C	ClinGen:CA10584319	CN169374 not specified;
NM_000051.4(ATM):c.1053dup (p.Ile352fs)	472	ATM	Pathogenic	587781984	RCV000130384\|RCV000460772\|RCV000657479\|RCV003467146;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117841	108117842	11:g.108117841_108117842insT	ClinGen:CA166301	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1052A>T (p.Asp351Val)	472	ATM	Uncertain significance	1057521618	RCV000445237\|RCV000471317\|RCV002244896\|RCV002392989;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117841	108117841	11:g.108117841A>T	ClinGen:CA16606145	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1052A>G (p.Asp351Gly)	472	ATM	Uncertain significance	1057521618	RCV001921348;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117841	108117841	108117841	-
NM_000051.4(ATM):c.1054A>G (p.Ile352Val)	472	ATM	Uncertain significance	748380019	RCV001247086\|RCV003235514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108117843	108117843	11:g.108117843A>G	-
NM_000051.4(ATM):c.1055T>C (p.Ile352Thr)	472	ATM	Uncertain significance	369203092	RCV000483490\|RCV000553352\|RCV001017155;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117844	108117844	11:g.108117844T>C	ClinGen:CA6264730	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1056C>G (p.Ile352Met)	472	ATM	Uncertain significance	1555068605	RCV000627901\|RCV002404712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117845	108117845	11:g.108117845C>G	ClinGen:CA382531804	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1056C>T (p.Ile352=)	472	ATM	Likely benign	1555068605	RCV000773521\|RCV001404380;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117845	108117845	NC_000011.9:g.108117845C>T	-
NM_000051.4(ATM):c.1058_1059del (p.Cys353fs)	472	ATM	Pathogenic	1555068609	RCV000581239\|RCV001202257\|RCV001575287\|RCV003465296;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117846	108117847	NC_000011.9:g.108117847_108117848del	ClinGen:CA645597675	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1057T>C (p.Cys353Arg)	472	ATM	Uncertain significance	2135269388	RCV001878081;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117846	108117846	108117846	-
NM_000051.4(ATM):c.1058G>A (p.Cys353Tyr)	472	ATM	Uncertain significance	1591511538	RCV001009758\|RCV001832330;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117847	108117847	11:g.108117847G>A	-
NM_000051.4(ATM):c.1060C>T (p.His354Tyr)	472	ATM	Uncertain significance	2079892237	RCV001222329\|RCV001806059;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117849	108117849	11:g.108117849C>T	-
NM_000051.4(ATM):c.1062C>T (p.His354=)	472	ATM	Likely benign	773365379	RCV000937302\|RCV001805936;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117851	108117851	11:g.108117851C>T	-
NM_000051.4(ATM):c.1063C>T (p.Gln355Ter)	472	ATM	Pathogenic	1555068615	RCV000568389\|RCV001233528;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117852	108117852	NC_000011.9:g.108117852C>T	ClinGen:CA382531853	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1064A>G (p.Gln355Arg)	472	ATM	Uncertain significance	2079892563	RCV001225722;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117853	108117853	11:g.108117853A>G	-
NM_000051.4(ATM):c.1065G>A (p.Gln355=)	472	ATM	Uncertain significance	-1	RCV002889703;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117854	108117854		-
NM_000051.4(ATM):c.1065+1G>T	472	ATM	Pathogenic/Likely pathogenic	201089102	RCV000166070\|RCV000411731\|RCV000436210\|RCV001420920\|RCV003468770;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117855	108117855	11:g.108117855G>T	ClinGen:CA194915	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1065+1G>C	472	ATM	Likely pathogenic	201089102	RCV000666613\|RCV002406507;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117855	108117855	11:g.108117855G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1065+1G>A	472	ATM	Likely pathogenic	201089102	RCV002007818;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117855	108117855	108117855	-
NM_000051.4(ATM):c.1065+3A>G	472	ATM	Uncertain significance	1282724169	RCV000572123\|RCV002530299;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117857	108117857	11:g.108117857A>G	ClinGen:CA602132502	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1065+4C>T	472	ATM	Conflicting interpretations of pathogenicity	1591511595	RCV001009804\|RCV001035746\|RCV002505540;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108117858	108117858	11:g.108117858C>T	-
NM_000051.4(ATM):c.1065+4del	472	ATM	Uncertain significance	2135269839	RCV001887518;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117858	108117858	108117857	-
NM_000051.4(ATM):c.1065+5A>T	472	ATM	Conflicting interpretations of pathogenicity	1204741025	RCV000529508\|RCV001009821;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108117859	108117859	11:g.108117859A>T	ClinGen:CA658656205	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1065+5A>C	472	ATM	Uncertain significance	1204741025	RCV001233018;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117859	108117859	11:g.108117859A>C	-
NM_000051.4(ATM):c.1065+9_1065+12del	472	ATM	Likely benign	1486083030	RCV001805581\|RCV002077255;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117859	108117862	108117858	-
NM_000051.4(ATM):c.1065+8A>C	472	ATM	Likely benign	2135270000	RCV002217022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117862	108117862	108117862	-
NM_000051.4(ATM):c.1065+10G>A	472	ATM	Likely benign	1591511658	RCV001428321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117864	108117864	11:g.108117864G>A	-
NM_000051.4(ATM):c.1065+11T>C	472	ATM	Uncertain significance	-1	RCV002668027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117865	108117865	NC_000011.9:g.108117865T>C	-
NM_000051.4(ATM):c.1065+13G>A	472	ATM	Uncertain significance	2135270116	RCV001895995;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117867	108117867	108117867	-
NM_000051.4(ATM):c.1065+13G>C	472	ATM	Likely benign	-1	RCV002619079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117867	108117867	NC_000011.9:g.108117867G>C	-
NM_000051.4(ATM):c.1065+14G>A	472	ATM	Likely benign	2135270151	RCV002177902;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117868	108117868	108117868	-
NM_000051.4(ATM):c.1065+17A>C	472	ATM	Likely benign	373230921	RCV002081279;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117871	108117871	108117871	-
NM_000051.4(ATM):c.1065+18T>A	472	ATM	Likely benign	774940342	RCV001191393\|RCV000614297\|RCV002062976;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117872	108117872	11:g.108117872T>A	ClinGen:CA602132506	CN169374 not specified;
NM_000051.4(ATM):c.1065+20T>C	472	ATM	Likely benign	-1	RCV003045308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108117874	108117874	NC_000011.9:g.108117874T>C	-
NM_000051.4(ATM):c.1066-16_1066-10del	472	ATM	Uncertain significance	-1	RCV002851342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119642	108119648	NC_000011.9:g.108119644_108119650del	-
NC_000011.10:g.(?_108248923)_(108249112_?)del	472	ATM	Pathogenic	-1	RCV001031803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119650	108119839	-1	-
NC_000011.10:g.(?_108248923)_(108272862_?)del	472	ATM	Pathogenic	-1	RCV001032698;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119650	108143589	-1	-
NM_000051.4(ATM):c.1066-10T>C	472	ATM	Likely benign	2135289561	RCV001499460;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119650	108119650	108119650	-
NM_000051.4(ATM):c.1066-9A>G	472	ATM	Likely benign	774334532	RCV001397347;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119651	108119651	108119651	-
NM_000051.4(ATM):c.1066-3_1072del	472	ATM	Likely pathogenic	1591517089	RCV000808362\|RCV001009826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119652	108119661	11:g.108119652_108119661del	-
NM_000051.4(ATM):c.1066-6T>G	472	ATM	Benign	201686625	RCV000003178\|RCV000115132\|RCV000200968\|RCV000488246\|RCV001253153\|RCV001355481\|RCV001797991\|RCV002496240;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C000	11	108119654	108119654	NC_000011.9:g.108119654T>G	ClinGen:CA151456,OMIM:607585.0021	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1066-3C>T	472	ATM	Uncertain significance	1565378708	RCV000773786\|RCV001245543\|RCV003321728;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108119657	108119657	NC_000011.9:g.108119657C>T	-
NM_000051.4(ATM):c.1066-2A>T	472	ATM	Likely pathogenic	1555069514	RCV000523800\|RCV000777178\|RCV001201887;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119658	108119658	11:g.108119658A>T	ClinGen:CA382532304	CN517202 not provided;
NM_000051.4(ATM):c.1066-2A>C	472	ATM	Likely pathogenic	1555069514	RCV000666716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119658	108119658	11:g.108119658A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1066-1_1081del	472	ATM	Likely pathogenic	2135289838	RCV002011783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119658	108119674	108119657	-
NM_000051.4(ATM):c.1066-2A>G	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002415123\|RCV003097317\|RCV003138256;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119658	108119658	108119658	-
NM_000051.4(ATM):c.1066-1G>A	472	ATM	Likely pathogenic	876660038	RCV000223052\|RCV002515683;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119659	108119659	11:g.108119659G>A	ClinGen:CA10578992	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1066-1G>T	472	ATM	Likely pathogenic	876660038	RCV000672295;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119659	108119659	11:g.108119659G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1066G>A (p.Val356Ile)	472	ATM	Uncertain significance	2079987798	RCV001295387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119660	108119660	108119660	-
NM_000051.4(ATM):c.1068T>C (p.Val356=)	472	ATM	Likely benign	1462038794	RCV000545824\|RCV000582494;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119662	108119662	11:g.108119662T>C	ClinGen:CA476671632	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1070T>C (p.Phe357Ser)	472	ATM	Uncertain significance	2135290032	RCV001872662;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119664	108119664	108119664	-
NM_000051.4(ATM):c.1071T>C (p.Phe357=)	472	ATM	Likely benign	1057521608	RCV000428278\|RCV000574698\|RCV000981360;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119665	108119665	11:g.108119665T>C	ClinGen:CA16606147	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1073dup (p.Asn358fs)	472	ATM	Pathogenic	1591517182	RCV001017215\|RCV001052221;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119665	108119666	11:g.108119665_108119666insA	-
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser)	472	ATM	Benign	149636614	RCV000115133\|RCV000196425\|RCV000211956\|RCV000587788\|RCV001355543\|RCV001798306\|RCV002221486;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108119667	108119667	NC_000011.9:g.108119667A>G	ClinGen:CA286708	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1074T>C (p.Asn358=)	472	ATM	Likely benign	2135290159	RCV001403995\|RCV003298664;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119668	108119668	108119668	-
NM_000051.4(ATM):c.1075G>A (p.Glu359Lys)	472	ATM	Uncertain significance	2079988487	RCV001211533\|RCV002418720\|RCV002473221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108119669	108119669	11:g.108119669G>A	-
NM_000051.4(ATM):c.1078del (p.Asp360fs)	472	ATM	Pathogenic	2135290302	RCV001382768;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119672	108119672	108119671	-
NM_000051.4(ATM):c.1079A>G (p.Asp360Gly)	472	ATM	Uncertain significance	775767808	RCV000234371\|RCV001009867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119673	108119673	NC_000011.9:g.108119673A>G	ClinGen:CA6264761	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1079A>T (p.Asp360Val)	472	ATM	Uncertain significance	775767808	RCV000679097\|RCV001009868\|RCV001218184;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119673	108119673	11:g.108119673A>T	-	CN517202 not provided;
NM_000051.4(ATM):c.1080T>G (p.Asp360Glu)	472	ATM	Uncertain significance	199869975	RCV000159682\|RCV000565732\|RCV000696558\|RCV002243828;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119674	108119674	NC_000011.9:g.108119674T>G	ClinGen:CA298135	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1080T>C (p.Asp360=)	472	ATM	Likely benign	199869975	RCV001409232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119674	108119674	108119674	-
NM_000051.4(ATM):c.1082C>A (p.Thr361Asn)	472	ATM	Conflicting interpretations of pathogenicity	1565378803	RCV000709165\|RCV000775323\|RCV002274094;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108119676	108119676	NC_000011.9:g.108119676C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1082C>G (p.Thr361Ser)	472	ATM	Uncertain significance	1565378803	RCV000818128;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119676	108119676	11:g.108119676C>G	-
NM_000051.4(ATM):c.1084A>G (p.Arg362Gly)	472	ATM	Uncertain significance	1591517251	RCV001017236\|RCV001827192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119678	108119678	11:g.108119678A>G	-
NM_000051.4(ATM):c.1086A>G (p.Arg362=)	472	ATM	Conflicting interpretations of pathogenicity	142591268	RCV000628185\|RCV002431837;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119680	108119680	NC_000011.9:g.108119680A>G	ClinGen:CA228389686	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1088C>T (p.Ser363Phe)	472	ATM	Uncertain significance	1555069560	RCV000628132\|RCV001189987\|RCV003162775;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108119682	108119682	11:g.108119682C>T	ClinGen:CA382532358	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1089C>T (p.Ser363=)	472	ATM	Likely benign	1555069567	RCV000565119\|RCV002060448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119683	108119683	11:g.108119683C>T	ClinGen:CA476671658	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1089C>G (p.Ser363=)	472	ATM	Likely benign	-1	RCV002593353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119683	108119683		-
NM_000051.4(ATM):c.1090T>G (p.Leu364Val)	472	ATM	Uncertain significance	764821887	RCV002033636;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119684	108119684	108119684	-
NM_000051.4(ATM):c.1091T>C (p.Leu364Ser)	472	ATM	Uncertain significance	1555069575	RCV000573582\|RCV001858236;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119685	108119685	11:g.108119685T>C	ClinGen:CA382532363	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1092_1235+363del	472	ATM	Likely pathogenic	1591517314	RCV000819654;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119686	108120192	11:g.108119686_108119784del	-
NM_000051.4(ATM):c.1093G>T (p.Glu365Ter)	472	ATM	Pathogenic/Likely pathogenic	1555069577	RCV000553846\|RCV002448583;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119687	108119687	11:g.108119687G>T	ClinGen:CA382532369	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1095_1101delinsA (p.Ile366_Ser367del)	472	ATM	Uncertain significance	878853481	RCV000227896\|RCV000775227;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119689	108119695	11:g.108119690_108119695del	ClinGen:CA10582790	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1096A>G (p.Ile366Val)	472	ATM	Uncertain significance	879254198	RCV000235318\|RCV000472191\|RCV000563082\|RCV000780895;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108119690	108119690	NC_000011.9:g.108119690A>G	ClinGen:CA10584320	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1097_1101del (p.Ile366fs)	472	ATM	Uncertain significance	2079990512	RCV001346463;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119691	108119695	108119690	-
NM_000051.4(ATM):c.1099T>C (p.Ser367Pro)	472	ATM	Uncertain significance	879254236	RCV000236390\|RCV001857816;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119693	108119693	NC_000011.9:g.108119693T>C	ClinGen:CA10584321	CN169374 not specified;
NM_000051.4(ATM):c.1102_1107del (p.Gln368_Ser369del)	472	ATM	Uncertain significance	2079990728	RCV001325275\|RCV002431926;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119693	108119698	108119692	-
NM_000051.4(ATM):c.1100C>A (p.Ser367Tyr)	472	ATM	Uncertain significance	2079990831	RCV001189556\|RCV002298894;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119694	108119694	11:g.108119694C>A	-
NM_000051.4(ATM):c.1100C>T (p.Ser367Phe)	472	ATM	Uncertain significance	2079990831	RCV001320772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119694	108119694	108119694	-
NM_000051.4(ATM):c.1102C>G (p.Gln368Glu)	472	ATM	Uncertain significance	1565378912	RCV000698548\|RCV000763687\|RCV001557056;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN517202	11	108119696	108119696	NC_000011.9:g.108119696C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1103A>G (p.Gln368Arg)	472	ATM	Uncertain significance	-1	RCV002433313\|RCV003101961;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119697	108119697	108119697	-
NM_000051.4(ATM):c.1104A>G (p.Gln368=)	472	ATM	Likely benign	560691658	RCV000162608\|RCV000441000\|RCV000867604\|RCV003390862;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108119698	108119698	11:g.108119698A>G	ClinGen:CA186550	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1106C>T (p.Ser369Phe)	472	ATM	Uncertain significance	762557654	RCV000529718\|RCV000579972\|RCV002248758;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108119700	108119700	NC_000011.9:g.108119700C>T	ClinGen:CA6264763	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1106C>G (p.Ser369Cys)	472	ATM	Uncertain significance	762557654	RCV001924466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119700	108119700	108119700	-
NM_000051.4(ATM):c.1108dup (p.Tyr370fs)	472	ATM	Pathogenic	-1	RCV003051995;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119700	108119701	NC_000011.9:g.108119702dup	-
NM_000051.4(ATM):c.1109dup (p.Tyr370Ter)	472	ATM	Pathogenic/Likely pathogenic	1555069617	RCV000574791\|RCV000657829\|RCV001057784\|RCV002497207\|RCV003465182;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108119702	108119703	11:g.108119702_108119703insA	ClinGen:CA658656209	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1111_1115del (p.Thr371fs)	472	ATM	Pathogenic	-1	RCV003045187;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119702	108119706	NC_000011.9:g.108119705_108119709del	-
NM_000051.4(ATM):c.1110C>G (p.Tyr370Ter)	472	ATM	Pathogenic	376170600	RCV000131436\|RCV000228285\|RCV000236856\|RCV003467175;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119704	108119704	11:g.108119704C>G	ClinGen:CA168151	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1110C>T (p.Tyr370=)	472	ATM	Likely benign	376170600	RCV000166267\|RCV000935983\|RCV001721080;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108119704	108119704	11:g.108119704C>T	ClinGen:CA195408	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1110C>A (p.Tyr370Ter)	472	ATM	Pathogenic/Likely pathogenic	376170600	RCV000708600\|RCV001653982\|RCV001868317;	N	MedGen:C3661900\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119704	108119704	11:g.108119704C>A	-	CN517202 not provided;
NM_000051.4(ATM):c.1110del (p.Ser369_Tyr370insTer)	472	ATM	Pathogenic	1591517456	RCV001017330\|RCV001385311\|RCV003467636;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119704	108119704	11:g.108119704_108119704del	-
NM_000051.4(ATM):c.1111A>G (p.Thr371Ala)	472	ATM	Uncertain significance	1565378985	RCV000708646\|RCV000821436;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119705	108119705	NC_000011.9:g.108119705A>G	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1112C>T (p.Thr371Ile)	472	ATM	Uncertain significance	879254289	RCV000236757\|RCV000565895\|RCV000460140;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119706	108119706	NC_000011.9:g.108119706C>T	ClinGen:CA10584322	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1112C>G (p.Thr371Ser)	472	ATM	Uncertain significance	879254289	RCV000804135\|RCV002440705;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119706	108119706	11:g.108119706C>G	-
NM_000051.4(ATM):c.1114A>G (p.Thr372Ala)	472	ATM	Uncertain significance	1591517491	RCV001017367\|RCV001873292;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119708	108119708	11:g.108119708A>G	-
NM_000051.4(ATM):c.1114A>T (p.Thr372Ser)	472	ATM	Uncertain significance	-1	RCV002297934;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119708	108119708	108119708	-
NM_000051.4(ATM):c.1115C>T (p.Thr372Ile)	472	ATM	Uncertain significance	765912563	RCV001048285\|RCV003229874\|RCV003160374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119709	108119709	11:g.108119709C>T	-
NM_000051.4(ATM):c.1116T>C (p.Thr372=)	472	ATM	Likely benign	371985921	RCV000628286\|RCV002438617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119710	108119710	NC_000011.9:g.108119710T>C	ClinGen:CA476671687	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1116_1117delinsAC (p.Thr373Pro)	472	ATM	Uncertain significance	-1	RCV003014619;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119710	108119711	NC_000011.9:g.108119710_108119711delinsAC	-
NM_000051.4(ATM):c.1117A>G (p.Thr373Ala)	472	ATM	Uncertain significance	751092163	RCV001212998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119711	108119711	11:g.108119711A>G	-
NM_000051.4(ATM):c.1118C>G (p.Thr373Arg)	472	ATM	Uncertain significance	876659275	RCV000214768\|RCV000458203;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119712	108119712	11:g.108119712C>G	ClinGen:CA10578993	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1119A>T (p.Thr373=)	472	ATM	Likely benign	754889105	RCV000163691\|RCV000546870;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119713	108119713	11:g.108119713A>T	ClinGen:CA188961	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1120C>T (p.Gln374Ter)	472	ATM	Pathogenic/Likely pathogenic	1185204988	RCV000668668\|RCV000762812\|RCV001185328;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119714	108119714	11:g.108119714C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1120C>G (p.Gln374Glu)	472	ATM	Uncertain significance	1185204988	RCV001368497\|RCV003298601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119714	108119714	108119714	-
NM_000051.4(ATM):c.1121A>G (p.Gln374Arg)	472	ATM	Uncertain significance	1555069640	RCV000566237\|RCV001858238;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119715	108119715	11:g.108119715A>G	ClinGen:CA382532423	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1122_1123del (p.Glu376fs)	472	ATM	Pathogenic	1591517571	RCV001009889\|RCV001030518\|RCV001385543\|RCV002221598\|RCV003160173;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|H	11	108119715	108119716	11:g.108119715_108119716del	-
NM_000051.4(ATM):c.1122A>G (p.Gln374=)	472	ATM	Conflicting interpretations of pathogenicity	1264315069	RCV000573594\|RCV001369970;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119716	108119716	11:g.108119716A>G	ClinGen:CA476671694	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1124del (p.Arg375fs)	472	ATM	Pathogenic	1555069653	RCV000628176;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119718	108119718	NC_000011.9:g.108119718del	ClinGen:CA658797784	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1125A>G (p.Arg375=)	472	ATM	Likely benign	2135292242	RCV002161227;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119719	108119719	108119719	-
NM_000051.4(ATM):c.1126G>T (p.Glu376Ter)	472	ATM	Pathogenic	1555069657	RCV000628138\|RCV002448919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119720	108119720	11:g.108119720G>T	ClinGen:CA382532436	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1128A>G (p.Glu376=)	472	ATM	Likely benign	1186427608	RCV001453911;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119722	108119722	108119722	-
NM_000051.4(ATM):c.1130C>G (p.Ser377Cys)	472	ATM	Uncertain significance	1555069665	RCV000575478\|RCV000627864;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119724	108119724	11:g.108119724C>G	ClinGen:CA382532444	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1131T>C (p.Ser377=)	472	ATM	Likely benign	2135292457	RCV001494643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119725	108119725	108119725	-
NM_000051.4(ATM):c.1132A>G (p.Ser378Gly)	472	ATM	Conflicting interpretations of pathogenicity	587779811	RCV000115134\|RCV000477027\|RCV000561450;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119726	108119726	NC_000011.9:g.108119726A>G	ClinGen:CA286711	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1133G>A (p.Ser378Asn)	472	ATM	Uncertain significance	1591517681	RCV000824092;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119727	108119727	11:g.108119727G>A	-
NM_000051.4(ATM):c.1135G>A (p.Asp379Asn)	472	ATM	Uncertain significance	1591517693	RCV000812612;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119729	108119729	11:g.108119729G>A	-
NM_000051.4(ATM):c.1138T>A (p.Tyr380Asn)	472	ATM	Conflicting interpretations of pathogenicity	34083085	RCV000115135\|RCV000464763\|RCV000590112;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108119732	108119732	NC_000011.9:g.108119732T>A	ClinGen:CA286714	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1139_1142dup (p.Ser381fs)	472	ATM	Pathogenic	886041340	RCV000285085\|RCV000475637\|RCV000493506\|RCV002500968\|RCV003469213;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108119732	108119733	11:g.108119732_108119733insACAG	ClinGen:CA10603226	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1139A>G (p.Tyr380Cys)	472	ATM	Uncertain significance	786203855	RCV000167345\|RCV000696213\|RCV001193600;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108119733	108119733	11:g.108119733A>G	ClinGen:CA198056	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1140_1141del (p.Tyr380_Ser381delinsTer)	472	ATM	Pathogenic	1555069677	RCV000559709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119733	108119734	NC_000011.9:g.108119734_108119735del	ClinGen:CA658656212	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1140C>T (p.Tyr380=)	472	ATM	Likely benign	2135292742	RCV002169236;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119734	108119734	108119734	-
NM_000051.4(ATM):c.1141A>G (p.Ser381Gly)	472	ATM	Uncertain significance	786203602	RCV000166987\|RCV001064874;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119735	108119735	11:g.108119735A>G	ClinGen:CA197197	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1142G>C (p.Ser381Thr)	472	ATM	Uncertain significance	1462596554	RCV002013270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119736	108119736	108119736	-
NM_000051.4(ATM):c.1142G>A (p.Ser381Asn)	472	ATM	Uncertain significance	1462596554	RCV002048205\|RCV002337149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119736	108119736	108119736	-
NM_000051.4(ATM):c.1143T>A (p.Ser381Arg)	472	ATM	Uncertain significance	755991658	RCV001017430\|RCV001860865;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119737	108119737	11:g.108119737T>A	-
NM_000051.4(ATM):c.1143T>C (p.Ser381=)	472	ATM	Likely benign	755991658	RCV001183824\|RCV001455647;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119737	108119737	11:g.108119737T>C	-
NM_000051.4(ATM):c.1146C>T (p.Val382=)	472	ATM	Likely benign	786201150	RCV000162775\|RCV000932408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119740	108119740	11:g.108119740C>T	ClinGen:CA186941	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1146C>A (p.Val382=)	472	ATM	Likely benign	786201150	RCV001446678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119740	108119740	11:g.108119740C>A	-
NM_000051.4(ATM):c.1146C>G (p.Val382=)	472	ATM	Likely benign	786201150	RCV002216023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119740	108119740	108119740	-
NM_000051.4(ATM):c.1147C>T (p.Pro383Ser)	472	ATM	Uncertain significance	864622650	RCV000206254;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119741	108119741	11:g.108119741C>T	ClinGen:CA350319	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1147C>G (p.Pro383Ala)	472	ATM	Uncertain significance	864622650	RCV001297610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119741	108119741	108119741	-
NM_000051.4(ATM):c.1148C>G (p.Pro383Arg)	472	ATM	Uncertain significance	1555069702	RCV000628008;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119742	108119742	NC_000011.9:g.108119742C>G	ClinGen:CA382532481	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1148C>T (p.Pro383Leu)	472	ATM	Uncertain significance	1555069702	RCV001039952;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119742	108119742	11:g.108119742C>T	-
NM_000051.4(ATM):c.1149T>C (p.Pro383=)	472	ATM	Likely benign	786201409	RCV000163568\|RCV001426900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119743	108119743	11:g.108119743T>C	ClinGen:CA188648	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1151dup (p.Cys384fs)	472	ATM	Pathogenic	2079995970	RCV001216674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119744	108119745	11:g.108119744_108119745insG	-
NM_000051.4(ATM):c.1150T>G (p.Cys384Gly)	472	ATM	Uncertain significance	2135293079	RCV002036357\|RCV003365672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119744	108119744	108119744	-
NM_000051.4(ATM):c.1152C>G (p.Cys384Trp)	472	ATM	Uncertain significance	777755997	RCV000233701\|RCV000575339;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119746	108119746	11:g.108119746C>G	ClinGen:CA6264768	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1154_1156del (p.Lys385del)	472	ATM	Uncertain significance	2135293203	RCV001996549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119747	108119749	108119746	-
NM_000051.4(ATM):c.1158del (p.Lys387fs)	472	ATM	Pathogenic	587782085	RCV000130585\|RCV000486071\|RCV000703678\|RCV003460932;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119751	108119751	11:g.108119751_108119751del	ClinGen:CA166706	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1157G>A (p.Arg386Lys)	472	ATM	Uncertain significance	878853484	RCV000228593;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119751	108119751	11:g.108119751G>A	ClinGen:CA10582791	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1159A>C (p.Lys387Gln)	472	ATM	Uncertain significance	786202686	RCV000165621\|RCV000693825;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119753	108119753	11:g.108119753A>C	ClinGen:CA193840	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1159A>G (p.Lys387Glu)	472	ATM	Uncertain significance	786202686	RCV000223204\|RCV001236939;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119753	108119753	11:g.108119753A>G	ClinGen:CA10578995	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1160A>G (p.Lys387Arg)	472	ATM	Conflicting interpretations of pathogenicity	876659755	RCV000214673\|RCV000701301;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119754	108119754	11:g.108119754A>G	ClinGen:CA10578996	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1161G>A (p.Lys387=)	472	ATM	Likely benign	786202369	RCV000165139\|RCV000456529;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119755	108119755	11:g.108119755G>A	ClinGen:CA192602	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1161G>C (p.Lys387Asn)	472	ATM	Uncertain significance	-1	RCV002297892;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119755	108119755	108119755	-
NM_000051.4(ATM):c.1162A>G (p.Lys388Glu)	472	ATM	Uncertain significance	876659570	RCV000216956\|RCV000628078;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119756	108119756	11:g.108119756A>G	ClinGen:CA10578997	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1163A>G (p.Lys388Arg)	472	ATM	Uncertain significance	1060501618	RCV000468521\|RCV000574153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119757	108119757	NC_000011.9:g.108119757A>G	ClinGen:CA16613312	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1165A>C (p.Ile389Leu)	472	ATM	Uncertain significance	1060501704	RCV000460705;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119759	108119759	NC_000011.9:g.108119759A>C	ClinGen:CA16613263	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1165A>G (p.Ile389Val)	472	ATM	Uncertain significance	1060501704	RCV000479676\|RCV000628025\|RCV002323837;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119759	108119759	11:g.108119759A>G	ClinGen:CA16619108	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1166T>C (p.Ile389Thr)	472	ATM	Uncertain significance	757486696	RCV000628019\|RCV001805227\|RCV001798933;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562	11	108119760	108119760	11:g.108119760T>C	ClinGen:CA6264770	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1166T>G (p.Ile389Arg)	472	ATM	Uncertain significance	757486696	RCV000815291\|RCV001017500;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119760	108119760	11:g.108119760T>G	-
NM_000051.4(ATM):c.1168G>T (p.Glu390Ter)	472	ATM	Pathogenic	876660106	RCV001010091\|RCV001860625\|RCV003141930;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119762	108119762	11:g.108119762G>T	-
NM_000051.4(ATM):c.1169A>G (p.Glu390Gly)	472	ATM	Uncertain significance	2135293668	RCV001896291;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119763	108119763	108119763	-
NM_000051.4(ATM):c.1170A>G (p.Glu390=)	472	ATM	Likely benign	2135293693	RCV001457961\|RCV002329524;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119764	108119764	108119764	-
NM_000051.4(ATM):c.1171C>A (p.Leu391Ile)	472	ATM	Uncertain significance	2135293721	RCV001962283;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119765	108119765	108119765	-
NM_000051.4(ATM):c.1175G>T (p.Gly392Val)	472	ATM	Uncertain significance	779035681	RCV000226246\|RCV000565047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119769	108119769	NC_000011.9:g.108119769G>T	ClinGen:CA6264771	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1176C>G (p.Gly392=)	472	ATM	Benign	1800727	RCV000130991\|RCV000247410\|RCV000386773\|RCV001354336\|RCV001705930\|RCV002221497\|RCV002225439\|RCV003149905;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003059,MedGen:CN296287\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108119770	108119770	11:g.108119770C>G	ClinGen:CA167509	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1176C>T (p.Gly392=)	472	ATM	Conflicting interpretations of pathogenicity	1800727	RCV000574348\|RCV001248195;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119770	108119770	NC_000011.9:g.108119770C>T	ClinGen:CA476671760	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1177T>G (p.Trp393Gly)	472	ATM	Uncertain significance	2135293953	RCV001925643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119771	108119771	108119771	-
NM_000051.4(ATM):c.1179_1180del (p.Trp393_Glu394delinsTer)	472	ATM	Pathogenic/Likely pathogenic	876659450	RCV000219422\|RCV000479095\|RCV000588480\|RCV001252971;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119772	108119773	11:g.108119772_108119773del	ClinGen:CA10579000	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1178G>A (p.Trp393Ter)	472	ATM	Pathogenic	1025339570	RCV000574876\|RCV002526814;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119772	108119772	11:g.108119772G>A	ClinGen:CA382532540	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1178G>T (p.Trp393Leu)	472	ATM	Uncertain significance	1025339570	RCV000565972\|RCV000690776;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119772	108119772	NC_000011.9:g.108119772G>T	ClinGen:CA228389857	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1179G>A (p.Trp393Ter)	472	ATM	Pathogenic	876658567	RCV001380969\|RCV001524545;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119773	108119773	108119773	-
NM_000051.4(ATM):c.1184T>C (p.Val395Ala)	472	ATM	Uncertain significance	1591517993	RCV001010207\|RCV001350959;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119778	108119778	11:g.108119778T>C	-
NM_000051.4(ATM):c.1185A>G (p.Val395=)	472	ATM	Likely benign	1555069760	RCV000571700\|RCV000599837\|RCV001455427;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119779	108119779	11:g.108119779A>G	ClinGen:CA476671769	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1187_1188delinsAT (p.Ile396Asn)	472	ATM	Uncertain significance	2079998724	RCV001041661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119781	108119782	NC_000011.9:g.108119781_108119782delinsAT	-
NM_000051.4(ATM):c.1190_1191del (p.Lys397fs)	472	ATM	Pathogenic/Likely pathogenic	2079998938	RCV001201897\|RCV003321805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108119782	108119783	11:g.108119782_108119783del	-
NM_000051.4(ATM):c.1189A>T (p.Lys397Ter)	472	ATM	Pathogenic	2079999064	RCV001208030;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119783	108119783	11:g.108119783A>T	-
NM_000051.4(ATM):c.1191A>C (p.Lys397Asn)	472	ATM	Uncertain significance	2079999164	RCV001236053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119785	108119785	11:g.108119785A>C	-
NM_000051.4(ATM):c.1192G>A (p.Asp398Asn)	472	ATM	Uncertain significance	876658833	RCV000217377\|RCV000469121\|RCV001770174\|RCV002307452;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108119786	108119786	11:g.108119786G>A	ClinGen:CA10579001	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1192del (p.Asp398fs)	472	ATM	Likely pathogenic	1057519330	RCV000416289;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119786	108119786	11:g.108119786_108119786del	ClinGen:CA16044015	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1194T>A (p.Asp398Glu)	472	ATM	Uncertain significance	551872656	RCV001253733\|RCV002570539;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119788	108119788	11:g.108119788T>A	-
NM_000051.4(ATM):c.1194T>C (p.Asp398=)	472	ATM	Likely benign	551872656	RCV002177489\|RCV003365678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119788	108119788	108119788	-
NM_000051.4(ATM):c.1197C>T (p.His399=)	472	ATM	Likely benign	786201131	RCV000162735\|RCV000543676\|RCV003390863;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108119791	108119791	11:g.108119791C>T	ClinGen:CA186838	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1197C>G (p.His399Gln)	472	ATM	Uncertain significance	786201131	RCV000812697;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119791	108119791	11:g.108119791C>G	-
NM_000051.4(ATM):c.1199T>C (p.Leu400Pro)	472	ATM	Uncertain significance	-1	RCV003029047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119793	108119793	NC_000011.9:g.108119793T>C	-
NM_000051.4(ATM):c.1200T>C (p.Leu400=)	472	ATM	Likely benign	1274342103	RCV001405193\|RCV002264300;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108119794	108119794	108119794	-
NM_000051.4(ATM):c.1201C>G (p.Gln401Glu)	472	ATM	Uncertain significance	772529339	RCV002033227;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119795	108119795	108119795	-
NM_000051.4(ATM):c.1203G>T (p.Gln401His)	472	ATM	Uncertain significance	1214283617	RCV001233537;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119797	108119797	11:g.108119797G>T	-
NM_000051.4(ATM):c.1203G>A (p.Gln401=)	472	ATM	Likely benign	1214283617	RCV001424393\|RCV002350829;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119797	108119797	108119797	-
NM_000051.4(ATM):c.1205A>C (p.Lys402Thr)	472	ATM	Uncertain significance	1591518138	RCV001010321\|RCV001295543;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119799	108119799	11:g.108119799A>C	-
NM_000051.4(ATM):c.1206G>A (p.Lys402=)	472	ATM	Likely benign	776001057	RCV001415829\|RCV002350805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119800	108119800	108119800	-
NM_000051.4(ATM):c.1208C>A (p.Ser403Ter)	472	ATM	Pathogenic/Likely pathogenic	747563556	RCV000486612\|RCV000804410\|RCV001010287\|RCV003463998;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119802	108119802	11:g.108119802C>A	ClinGen:CA16619109	CN517202 not provided;
NM_000051.4(ATM):c.1208C>T (p.Ser403Leu)	472	ATM	Uncertain significance	747563556	RCV000570080\|RCV001035293\|RCV001584368;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108119802	108119802	11:g.108119802C>T	ClinGen:CA6264774	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1209A>G (p.Ser403=)	472	ATM	Likely benign	1213832469	RCV001439593\|RCV002350868;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119803	108119803	108119803	-
NM_000051.4(ATM):c.1210C>G (p.Gln404Glu)	472	ATM	Uncertain significance	730881340	RCV000159683\|RCV000628061\|RCV003162670;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119804	108119804	NC_000011.9:g.108119804C>G	ClinGen:CA298138	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1210C>T (p.Gln404Ter)	472	ATM	Pathogenic	730881340	RCV001206302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119804	108119804	11:g.108119804C>T	-
NM_000051.4(ATM):c.1212_1213del (p.Gln404_Asn405insTer)	472	ATM	Pathogenic	1060501609	RCV000469227\|RCV002356671\|RCV003317215\|RCV003463882;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119805	108119806	NC_000011.9:g.108119806_108119807del	ClinGen:CA16612981	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1212G>A (p.Gln404=)	472	ATM	Likely benign	786201519	RCV000163795\|RCV000424253\|RCV000536104;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119806	108119806	11:g.108119806G>A	ClinGen:CA189203	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1214del (p.Asn405fs)	472	ATM	Pathogenic	2080001212	RCV001213100;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119807	108119807	11:g.108119807_108119807del	-
NM_000051.4(ATM):c.1215del (p.Asn405fs)	472	ATM	Pathogenic/Likely pathogenic	1555069815	RCV000576782\|RCV000659279\|RCV000657201\|RCV000771728\|RCV001356119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	11	108119809	108119809	11:g.108119809_108119809del	ClinGen:CA658656221	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1215T>C (p.Asn405=)	472	ATM	Likely benign	2135295261	RCV001445996;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119809	108119809	108119809	-
NM_000051.4(ATM):c.1221dup (p.Asp408Ter)	472	ATM	Pathogenic	1064792998	RCV000487484;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119811	108119812	NC_000011.9:g.108119815dup	ClinGen:CA16621543	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1219_1221dup (p.Phe407dup)	472	ATM	Uncertain significance	1064792998	RCV000567745\|RCV000687598\|RCV002473061\|RCV003470812;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119811	108119812	11:g.108119811_108119812insTTT	ClinGen:CA658656223	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1218T>C (p.Asp406=)	472	ATM	Likely benign	2135295378	RCV001479842;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119812	108119812	108119812	-
NM_000051.4(ATM):c.1219T>G (p.Phe407Val)	472	ATM	Uncertain significance	-1	RCV003047199;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119813	108119813	NC_000011.9:g.108119813T>G	-
NM_000051.4(ATM):c.1222G>A (p.Asp408Asn)	472	ATM	Uncertain significance	864622548	RCV000206876\|RCV001010397\|RCV002478733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108119816	108119816	NC_000011.9:g.108119816G>A	ClinGen:CA350858	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1223A>G (p.Asp408Gly)	472	ATM	Uncertain significance	587781582	RCV000129620\|RCV000459229;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119817	108119817	11:g.108119817A>G	ClinGen:CA164783	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1225C>T (p.Leu409Phe)	472	ATM	Uncertain significance	786203815	RCV000167285\|RCV000461866\|RCV003231352;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108119819	108119819	11:g.108119819C>T	ClinGen:CA197924	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1225C>A (p.Leu409Ile)	472	ATM	Uncertain significance	786203815	RCV000774653\|RCV001856092;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119819	108119819	NC_000011.9:g.108119819C>A	-
NM_000051.4(ATM):c.1227T>C (p.Leu409=)	472	ATM	Conflicting interpretations of pathogenicity	1060504273	RCV000569918\|RCV000481318\|RCV001088601;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119821	108119821	NC_000011.9:g.108119821T>C	ClinGen:CA16613316	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1228G>A (p.Val410Met)	472	ATM	Uncertain significance	863224555	RCV000198295\|RCV000234895\|RCV001840315\|RCV003462315;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119822	108119822	11:g.108119822G>A	ClinGen:CA337783	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1229T>C (p.Val410Ala)	472	ATM	Conflicting interpretations of pathogenicity	56128736	RCV000115136\|RCV000119195\|RCV000120171\|RCV000590142\|RCV001356635\|RCV001798307;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0002032,MedGen:C0699790\|MedGen:CN221562	11	108119823	108119823	NC_000011.9:g.108119823T>C	ClinGen:CA157210,UniProtKB:Q13315#VAR_041551	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1230G>A (p.Val410=)	472	ATM	Likely benign	1555069869	RCV000548740\|RCV002367750;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119824	108119824	NC_000011.9:g.108119824G>A	ClinGen:CA476671789	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1230G>T (p.Val410=)	472	ATM	Likely benign	1555069869	RCV001497420;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119824	108119824	108119824	-
NM_000051.4(ATM):c.1233T>G (p.Pro411=)	472	ATM	Likely benign	1591518323	RCV000983504\|RCV002372699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119827	108119827	11:g.108119827T>G	-
NM_000051.4(ATM):c.1234T>C (p.Trp412Arg)	472	ATM	Uncertain significance	587779812	RCV000115137\|RCV000206069\|RCV000211958;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108119828	108119828	NC_000011.9:g.108119828T>C	ClinGen:CA286717	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1235G>A (p.Trp412Ter)	472	ATM	Pathogenic/Likely pathogenic	587779813	RCV000115138\|RCV000567498\|RCV001038728\|RCV001358353;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108119829	108119829	NC_000011.9:g.108119829G>A	ClinGen:CA286720	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1235G>C (p.Trp412Ser)	472	ATM	Uncertain significance	587779813	RCV002038296;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119829	108119829	108119829	-
NM_000051.4(ATM):c.1235+1G>A	472	ATM	Likely pathogenic	1555069881	RCV000668841\|RCV003465485;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119830	108119830	11:g.108119830G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(108119830_108121427)_(108124767_108126941)del	472	ATM	Likely pathogenic	-1	RCV001797890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119830	108126941	-1	-
NM_000051.4(ATM):c.1235+1G>C	472	ATM	Likely pathogenic	-1	RCV002863430;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119830	108119830	NC_000011.9:g.108119830G>C	-
NM_000051.4(ATM):c.1235+2T>C	472	ATM	Likely pathogenic	2135296157	RCV001969466\|RCV003170285;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108119831	108119831	108119831	-
NM_000051.4(ATM):c.1235+4_1235+5del	472	ATM	Conflicting interpretations of pathogenicity	770033355	RCV000481339\|RCV000568923\|RCV000805666\|RCV003230515\|RCV003470547;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119832	108119833	NC_000011.9:g.108119833_108119834del	ClinGen:CA6264775	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1235+3A>G	472	ATM	Conflicting interpretations of pathogenicity	1417190414	RCV000570921\|RCV000698429\|RCV003465220;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119832	108119832	11:g.108119832A>G	ClinGen:CA602132545	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1235+4A>G	472	ATM	Uncertain significance	786203147	RCV000166325\|RCV001850340\|RCV003468779;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108119833	108119833	11:g.108119833A>G	ClinGen:CA195575	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1235+4A>T	472	ATM	Uncertain significance	786203147	RCV000567544\|RCV001344326;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119833	108119833	11:g.108119833A>T	ClinGen:CA658656228	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1235+5A>T	472	ATM	Conflicting interpretations of pathogenicity	1064793679	RCV000486242\|RCV000524585\|RCV000775952;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108119834	108119834	11:g.108119834A>T	ClinGen:CA16619111	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1235+5A>C	472	ATM	Uncertain significance	1064793679	RCV000628157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119834	108119834	NC_000011.9:g.108119834A>C	ClinGen:CA658797785	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1235+5A>G	472	ATM	Uncertain significance	1064793679	RCV001980947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119834	108119834	108119834	-
NM_000051.4(ATM):c.1235+6G>A	472	ATM	Uncertain significance	2080003881	RCV001067215;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119835	108119835	11:g.108119835G>A	-
NM_000051.4(ATM):c.1235+10_1235+28del	472	ATM	Likely benign	1591518436	RCV001409153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119837	108119855	11:g.108119837_108119855del	-
NM_000051.4(ATM):c.1235+8G>A	472	ATM	Likely benign	-1	RCV002871735;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119837	108119837	NC_000011.9:g.108119837G>A	-
NM_000051.4(ATM):c.1235+11dup	472	ATM	Benign/Likely benign	773187419	RCV000583964\|RCV001613387\|RCV002060574;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119839	108119840	NC_000011.9:g.108119840dup	ClinGen:CA6264776	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1235+10T>C	472	ATM	Likely benign	-1	RCV002866846;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119839	108119839	NC_000011.9:g.108119839T>C	-
NM_000051.4(ATM):c.1235+11A>G	472	ATM	Likely benign	2135296543	RCV002081191;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119840	108119840	108119840	-
NM_000051.4(ATM):c.1235+14A>G	472	ATM	Likely benign	776931625	RCV000581824\|RCV002060575;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119843	108119843	11:g.108119843A>G	ClinGen:CA6264777	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1235+20T>G	472	ATM	Likely benign	762656752	RCV000771770\|RCV002067238;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119849	108119849	NC_000011.9:g.108119849T>G	-
NM_000051.4(ATM):c.1235+20T>C	472	ATM	Likely benign	762656752	RCV002176248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108119849	108119849	108119849	-
NM_000051.4(ATM):c.1236-20_1236-19insA	472	ATM	Likely benign	-1	RCV003054784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121408	108121409	NC_000011.9:g.108121408_108121409insA	-
NM_000051.4(ATM):c.1236-19_1236-18insT	472	ATM	Likely benign	1211190659	RCV002128214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121409	108121410	108121409	-
NM_000051.4(ATM):c.1236-18_1236-17dup	472	ATM	Likely benign	-1	RCV002721375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121409	108121410	NC_000011.9:g.108121410_108121411dup	-
NM_000051.4(ATM):c.1236-19C>A	472	ATM	Likely benign	-1	RCV003054785;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121409	108121409	NC_000011.9:g.108121409C>A	-
NM_000051.4(ATM):c.1236-10_1236-3dup	472	ATM	Benign	34325032	RCV000988649;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121410	108121411	11:g.108121410_108121411insTTTTTTTT	-
NM_000051.4(ATM):c.1236-18C>T	472	ATM	Likely benign	201767651	RCV002178593;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121410	108121410	108121410	-
NM_000051.4(ATM):c.1236-3del	472	ATM	Benign/Likely benign	34325032	RCV000162527\|RCV000625501\|RCV001529770\|RCV001798563\|RCV001795286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:CN221562\|MedGen:C3661900	11	108121411	108121411	11:g.108121411_108121411del	ClinGen:CA186412	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236-10T>C	472	ATM	Likely benign	1364244917	RCV000939187\|RCV003331002;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108121418	108121418	11:g.108121418T>C	-
NC_000011.10:g.(?_108250691)_(108254049_?)del	472	ATM	Pathogenic	-1	RCV001033477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121418	108124776	-1	-
NC_000011.10:g.(?_108250691)_(108257616_?)del	472	ATM	Pathogenic	-1	RCV001032157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121418	108128343	-1	-
NM_000051.4(ATM):c.1236-9_1236-8insG	472	ATM	Likely benign	863224290	RCV000197785\|RCV000777654;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121419	108121420	NC_000011.9:g.108121419_108121420insG	ClinGen:CA337433	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236-9T>G	472	ATM	Likely benign	2135314849	RCV001459712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121419	108121419	108121419	-
NM_000051.4(ATM):c.1236-9_1236-8insC	472	ATM	Likely benign	863224290	RCV002182402;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121419	108121420	108121419	-
NM_000051.4(ATM):c.1236-9T>C	472	ATM	Likely benign	2135314849	RCV002209610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121419	108121419	108121419	-
NM_000051.4(ATM):c.1236-8T>C	472	ATM	Likely benign	756160331	RCV000550071\|RCV003321642;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108121420	108121420	NC_000011.9:g.108121420T>C	ClinGen:CA6264788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236-7T>C	472	ATM	Likely benign	2080086515	RCV001462361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121421	108121421	108121421	-
NM_000051.4(ATM):c.1236-6_1236-5insC	472	ATM	Likely benign	878853483	RCV001479939;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121422	108121423	11:g.108121422_108121423insC	ClinGen:CA10582792	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236-6T>C	472	ATM	Likely benign	-1	RCV002881958;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121422	108121422	NC_000011.9:g.108121422T>C	-
NM_000051.4(ATM):c.1236-4_1236-3insC	472	ATM	Likely benign	2135315149	RCV001404486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121424	108121425	108121424	-
NM_000051.4(ATM):c.1236-3T>C	472	ATM	Conflicting interpretations of pathogenicity	763976313	RCV000615725\|RCV000808804;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121425	108121425	11:g.108121425T>C	ClinGen:CA658797786	CN169374 not specified;
NM_000051.4(ATM):c.1236-3T>A	472	ATM	Uncertain significance	763976313	RCV000628065\|RCV003372774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121425	108121425	11:g.108121425T>A	ClinGen:CA6264789	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236-3_1236-2insC	472	ATM	Likely benign	730881281	RCV000772113\|RCV001492448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121425	108121426	NC_000011.9:g.108121425_108121426insC	-
NM_000051.4(ATM):c.1236-2dup	472	ATM	Uncertain significance	1555070601	RCV002038230;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121425	108121426	108121425	-
NM_000051.4(ATM):c.1236-2A>T	472	ATM	Pathogenic	80159221	RCV000492860\|RCV000988653\|RCV003332166;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108121426	108121426	11:g.108121426A>T	ClinGen:CA6264792,ClinVar:424841	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1236-2A>G	472	ATM	Pathogenic	80159221	RCV000483797\|RCV000537165\|RCV000771771\|RCV003470541;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121426	108121426	11:g.108121426A>G	ClinGen:CA16619112	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236-2del	472	ATM	Likely pathogenic	1565381646	RCV000696557\|RCV002360775;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121426	108121426	11:g.108121426_108121426del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236-2_1236-1del	472	ATM	Likely benign	1591522638	RCV000988650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121426	108121427	11:g.108121426_108121427del	-
NM_000051.4(ATM):c.1236-2_1236del	472	ATM	Uncertain significance	1591522646	RCV000988651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121426	108121428	11:g.108121426_108121428del	-
NM_000051.4(ATM):c.1236-2_1237del	472	ATM	Uncertain significance	1591522650	RCV000988652;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121426	108121429	11:g.108121426_108121429del	-
NM_000051.4(ATM):c.1236-1G>A	472	ATM	Pathogenic/Likely pathogenic	1408719214	RCV000672765;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121427	108121427	11:g.108121427G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236-1G>T	472	ATM	Pathogenic	1408719214	RCV000988655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121427	108121427	11:g.108121427G>T	-
NM_000051.4(ATM):c.1236-1_1237del	472	ATM	Uncertain significance	1591522664	RCV000988654;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121427	108121429	11:g.108121427_108121429del	-
NM_000051.4(ATM):c.1236-1G>C	472	ATM	Pathogenic/Likely pathogenic	1408719214	RCV001937609\|RCV002361123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121427	108121427	108121427	-
NM_000051.4(ATM):c.1236G>T (p.Trp412Cys)	472	ATM	Uncertain significance	79220522	RCV000709166\|RCV002227210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108121428	108121428	NC_000011.9:g.108121428G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1236_1237insTT (p.Leu413fs)	472	ATM	Uncertain significance	1591522681	RCV000988656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121428	108121429	11:g.108121428_108121429insTT	-
NM_000051.4(ATM):c.1236_1237insTTTT (p.Leu413fs)	472	ATM	Uncertain significance	1591522681	RCV000988657;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121428	108121429	11:g.108121428_108121429insTTTT	-
NM_000051.4(ATM):c.1237C>T (p.Leu413=)	472	ATM	Conflicting interpretations of pathogenicity	1565381686	RCV000988660\|RCV002363514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121429	108121429	11:g.108121429C>T	-
NM_000051.4(ATM):c.1238_1239insTTT (p.Leu413dup)	472	ATM	Uncertain significance	1420011788	RCV000988658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121429	108121430	11:g.108121429_108121430insTTT	-
NM_000051.4(ATM):c.1238_1239insTTTT (p.Gln414fs)	472	ATM	Uncertain significance	1420011788	RCV000988659;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121429	108121430	11:g.108121429_108121430insTTTT	-
NM_000051.4(ATM):c.1240C>T (p.Gln414Ter)	472	ATM	Pathogenic	866521873	RCV000230144\|RCV000579465\|RCV003463627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121432	108121432	NC_000011.9:g.108121432C>T	ClinGen:CA10582793	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1240C>A (p.Gln414Lys)	472	ATM	Uncertain significance	866521873	RCV000988661\|RCV001269376;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108121432	108121432	11:g.108121432C>A	-
NM_000051.4(ATM):c.1241A>C (p.Gln414Pro)	472	ATM	Uncertain significance	2080088877	RCV002005456;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121433	108121433	108121433	-
NM_000051.4(ATM):c.1242G>T (p.Gln414His)	472	ATM	Uncertain significance	786203667	RCV000167077\|RCV001316792;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121434	108121434	11:g.108121434G>T	ClinGen:CA197437	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1242G>A (p.Gln414=)	472	ATM	Likely benign	786203667	RCV000628253\|RCV001010506;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121434	108121434	11:g.108121434G>A	ClinGen:CA476671868	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1243A>T (p.Ile415Phe)	472	ATM	Conflicting interpretations of pathogenicity	1591522756	RCV000988663;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121435	108121435	11:g.108121435A>T	-
NM_000051.4(ATM):c.1245_1246insTTTTTT (p.Ile415_Ala416insPhePhe)	472	ATM	Likely benign	1591522786	RCV000988662;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121435	108121436	11:g.108121435_108121436insTTTTTT	-
NM_000051.4(ATM):c.1244T>A (p.Ile415Asn)	472	ATM	Uncertain significance	1565381748	RCV000704715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121436	108121436	NC_000011.9:g.108121436T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1245T>G (p.Ile415Met)	472	ATM	Uncertain significance	1060501554	RCV000465939\|RCV000573790;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121437	108121437	NC_000011.9:g.108121437T>G	ClinGen:CA16613059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1247C>T (p.Ala416Val)	472	ATM	Uncertain significance	2080089501	RCV001347513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121439	108121439	108121439	-
NM_000051.4(ATM):c.1249del (p.Thr417fs)	472	ATM	Pathogenic/Likely pathogenic	786203166	RCV000166356\|RCV000710663\|RCV001781514;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121440	108121440	11:g.108121440_108121440del	ClinGen:CA195638	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1249A>G (p.Thr417Ala)	472	ATM	Uncertain significance	863224556	RCV000200842\|RCV000217576\|RCV000480273\|RCV000780896;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108121441	108121441	NC_000011.9:g.108121441A>G	ClinGen:CA339577	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1251C>T (p.Thr417=)	472	ATM	Likely benign	1555070643	RCV000581735\|RCV000891108;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121443	108121443	NC_000011.9:g.108121443C>T	ClinGen:CA476671876	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1251C>G (p.Thr417=)	472	ATM	Likely benign	1555070643	RCV001184445\|RCV002067948;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121443	108121443	11:g.108121443C>G	-
NM_000051.4(ATM):c.1254_1258del (p.Gln418fs)	472	ATM	Pathogenic	2135316258	RCV001390306;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121445	108121449	108121444	-
NM_000051.4(ATM):c.1254A>G (p.Gln418=)	472	ATM	Benign/Likely benign	4987943	RCV000119159\|RCV000130976\|RCV000506744\|RCV001357804\|RCV001705878\|RCV001798372\|RCV002225350\|RCV003315705;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C06	11	108121446	108121446	11:g.108121446A>G	ClinGen:CA167482	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1257A>G (p.Leu419=)	472	ATM	Likely benign	779037197	RCV000431553\|RCV002062739;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121449	108121449	11:g.108121449A>G	ClinGen:CA6264793	CN169374 not specified;
NM_000051.4(ATM):c.1259_1264del (p.Ile420_Ser421del)	472	ATM	Uncertain significance	1555070659	RCV000673346;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121449	108121454	11:g.108121449_108121454del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1258A>C (p.Ile420Leu)	472	ATM	Uncertain significance	1565381867	RCV000689186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121450	108121450	NC_000011.9:g.108121450A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1259T>C (p.Ile420Thr)	472	ATM	Uncertain significance	2080090371	RCV001234010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121451	108121451	11:g.108121451T>C	-
NM_000051.4(ATM):c.1260A>C (p.Ile420=)	472	ATM	Likely benign	750468699	RCV000563277\|RCV001423475;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121452	108121452	11:g.108121452A>C	ClinGen:CA6264794	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1261T>C (p.Ser421Pro)	472	ATM	Conflicting interpretations of pathogenicity	376196220	RCV000165683\|RCV000203884\|RCV000480887\|RCV003468750;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121453	108121453	11:g.108121453T>C	ClinGen:CA193982	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1262C>G (p.Ser421Ter)	472	ATM	Pathogenic	2135316531	RCV001381307\|RCV003169945;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121454	108121454	108121454	-
NM_000051.4(ATM):c.1263A>G (p.Ser421=)	472	ATM	Likely benign	1060504285	RCV000476668\|RCV000571559;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121455	108121455	NC_000011.9:g.108121455A>G	ClinGen:CA16613060	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1266G>A (p.Lys422=)	472	ATM	Likely benign	1057520445	RCV000443581\|RCV002524815;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121458	108121458	11:g.108121458G>A	ClinGen:CA16606024	CN169374 not specified;
NM_000051.4(ATM):c.1266G>C (p.Lys422Asn)	472	ATM	Uncertain significance	1057520445	RCV001210049;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121458	108121458	11:g.108121458G>C	-
NM_000051.4(ATM):c.1267T>C (p.Tyr423His)	472	ATM	Uncertain significance	-1	RCV002881938;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121459	108121459	NC_000011.9:g.108121459T>C	-
NM_000051.4(ATM):c.1270C>G (p.Pro424Ala)	472	ATM	Uncertain significance	1591522957	RCV001343326\|RCV002447411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121462	108121462	108121462	-
NM_000051.4(ATM):c.1270C>T (p.Pro424Ser)	472	ATM	Uncertain significance	-1	RCV002856830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121462	108121462	NC_000011.9:g.108121462C>T	-
NM_000051.4(ATM):c.1271C>A (p.Pro424His)	472	ATM	Conflicting interpretations of pathogenicity	147472613	RCV000164384\|RCV000218574\|RCV000526201\|RCV001193062\|RCV003467294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121463	108121463	11:g.108121463C>A	ClinGen:CA190822	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1271C>T (p.Pro424Leu)	472	ATM	Uncertain significance	147472613	RCV000206511;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121463	108121463	NC_000011.9:g.108121463C>T	ClinGen:CA350530	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1272T>C (p.Pro424=)	472	ATM	Conflicting interpretations of pathogenicity	35578748	RCV000122817\|RCV000159603\|RCV000211959\|RCV000588662\|RCV001355372\|RCV001798388;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562	11	108121464	108121464	NC_000011.9:g.108121464T>C	ClinGen:CA297982	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1273G>T (p.Ala425Ser)	472	ATM	Conflicting interpretations of pathogenicity	769214234	RCV000685032\|RCV001010688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121465	108121465	NC_000011.9:g.108121465G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1273G>A (p.Ala425Thr)	472	ATM	Uncertain significance	769214234	RCV000777655\|RCV001869128\|RCV003465704;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121465	108121465	NC_000011.9:g.108121465G>A	-
NM_000051.4(ATM):c.1274_1277del (p.Ala425fs)	472	ATM	Pathogenic/Likely pathogenic	1591523010	RCV001010690\|RCV001860649\|RCV003467592;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121465	108121468	11:g.108121465_108121468del	-
NM_000051.4(ATM):c.1275A>G (p.Ala425=)	472	ATM	Likely benign	1591523031	RCV001010694\|RCV002068828;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121467	108121467	11:g.108121467A>G	-
NM_000051.4(ATM):c.1276del (p.Ser426fs)	472	ATM	Pathogenic	2135316980	RCV001380333;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121467	108121467	108121466	-
NM_000051.4(ATM):c.1277G>A (p.Ser426Asn)	472	ATM	Uncertain significance	1350528190	RCV000697979\|RCV001010709\|RCV001771977;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108121469	108121469	NC_000011.9:g.108121469G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1278T>G (p.Ser426Arg)	472	ATM	Uncertain significance	2135317047	RCV001933211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121470	108121470	108121470	-
NM_000051.4(ATM):c.1280T>A (p.Leu427Ter)	472	ATM	Pathogenic	2135317116	RCV001953403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121472	108121472	108121472	-
NM_000051.4(ATM):c.1282C>A (p.Pro428Thr)	472	ATM	Uncertain significance	-1	RCV003015041;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121474	108121474	NC_000011.9:g.108121474C>A	-
NM_000051.4(ATM):c.1285_1288del (p.Asn429fs)	472	ATM	Pathogenic/Likely pathogenic	1555070694	RCV000657354\|RCV001861677;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121475	108121478	11:g.108121475_108121478del	-	CN517202 not provided;
NM_000051.4(ATM):c.1284_1291del (p.Asn429fs)	472	ATM	Pathogenic	863224460	RCV000199901;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121476	108121483	11:g.108121476_108121483del	ClinGen:CA338956	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1290_1291del (p.Cys430_Glu431delinsTer)	472	ATM	Pathogenic/Likely pathogenic	587781598	RCV000129663\|RCV000236686\|RCV000410187\|RCV003467117;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121480	108121481	11:g.108121480_108121481del	ClinGen:CA164893	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1292A>C (p.Glu431Ala)	472	ATM	Uncertain significance	1320262218	RCV000565227\|RCV001346425;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121484	108121484	NC_000011.9:g.108121484A>C	ClinGen:CA382533556	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1293_1294delinsAT (p.Glu431_Leu432=)	472	ATM	Likely benign	1591523100	RCV001446650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121485	108121486	NC_000011.9:g.108121485_108121486delinsAT	-
NM_000051.4(ATM):c.1293G>A (p.Glu431=)	472	ATM	Likely benign	2135317554	RCV001395935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121485	108121485	108121485	-
NM_000051.4(ATM):c.1295T>A (p.Leu432Gln)	472	ATM	Uncertain significance	546621356	RCV000483830\|RCV000579774\|RCV000628034\|RCV003470585;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121487	108121487	11:g.108121487T>A	ClinGen:CA6264797	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1295T>G (p.Leu432Arg)	472	ATM	Uncertain significance	546621356	RCV001192365\|RCV001372688\|RCV002480640;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108121487	108121487	11:g.108121487T>G	-
NM_000051.4(ATM):c.1296G>C (p.Leu432=)	472	ATM	Likely benign	876658894	RCV000214423\|RCV000937111\|RCV001357706;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121488	108121488	11:g.108121488G>C	ClinGen:CA10579002	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1296G>A (p.Leu432=)	472	ATM	Likely benign	876658894	RCV001411412;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121488	108121488	108121488	-
NM_000051.4(ATM):c.1298C>A (p.Ser433Tyr)	472	ATM	Uncertain significance	-1	RCV002833152;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121490	108121490	NC_000011.9:g.108121490C>A	-
NM_000051.4(ATM):c.1300C>T (p.Pro434Ser)	472	ATM	Uncertain significance	1064795171	RCV000480809\|RCV000570473\|RCV000794458;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121492	108121492	11:g.108121492C>T	ClinGen:CA16619114	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1300C>G (p.Pro434Ala)	472	ATM	Uncertain significance	1064795171	RCV000584347\|RCV000705152\|RCV001193010\|RCV003229846;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108121492	108121492	NC_000011.9:g.108121492C>G	ClinGen:CA382533581	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1301C>T (p.Pro434Leu)	472	ATM	Uncertain significance	2080093920	RCV001298120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121493	108121493	108121493	-
NM_000051.4(ATM):c.1302A>G (p.Pro434=)	472	ATM	Likely benign	1555070715	RCV000569997\|RCV000605676\|RCV002060382;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121494	108121494	11:g.108121494A>G	ClinGen:CA476671904	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1303T>C (p.Leu435=)	472	ATM	Benign/Likely benign	748469311	RCV000165265\|RCV000252163\|RCV000470029\|RCV001355218\|RCV001675648\|RCV003316039;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108121495	108121495	11:g.108121495T>C	ClinGen:CA192926	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1304T>G (p.Leu435Ter)	472	ATM	Pathogenic	1565382166	RCV000820757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121496	108121496	11:g.108121496T>G	-
NM_000051.4(ATM):c.1305del (p.Leu435fs)	472	ATM	Pathogenic/Likely pathogenic	1555070719	RCV000674459\|RCV002386151;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121497	108121497	11:g.108121497_108121497del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1307T>A (p.Leu436Gln)	472	ATM	Uncertain significance	1060501608	RCV000474752\|RCV001770327;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108121499	108121499	NC_000011.9:g.108121499T>A	ClinGen:CA16613264	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1309A>C (p.Met437Leu)	472	ATM	Uncertain significance	2135318098	RCV001956597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121501	108121501	108121501	-
NM_000051.4(ATM):c.1309A>T (p.Met437Leu)	472	ATM	Uncertain significance	-1	RCV002834193;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121501	108121501	NC_000011.9:g.108121501A>T	-
NM_000051.4(ATM):c.1314A>C (p.Ile438=)	472	ATM	Likely benign	770573462	RCV000566352\|RCV000755831\|RCV001086150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121506	108121506	NC_000011.9:g.108121506A>C	ClinGen:CA476671910	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1314A>G (p.Ile438Met)	472	ATM	Uncertain significance	770573462	RCV001051519;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121506	108121506	11:g.108121506A>G	-
NM_000051.4(ATM):c.1314A>T (p.Ile438=)	472	ATM	Likely benign	-1	RCV002894198;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121506	108121506		-
NM_000051.4(ATM):c.1315C>A (p.Leu439Ile)	472	ATM	Uncertain significance	-1	RCV002300365;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121507	108121507	108121507	-
NM_000051.4(ATM):c.1316T>A (p.Leu439Gln)	472	ATM	Uncertain significance	2080095349	RCV001068865;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121508	108121508	11:g.108121508T>A	-
NM_000051.4(ATM):c.1316T>C (p.Leu439Pro)	472	ATM	Uncertain significance	2080095349	RCV001918209;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121508	108121508	108121508	-
NM_000051.4(ATM):c.1317A>G (p.Leu439=)	472	ATM	Likely benign	1232968268	RCV000583673\|RCV000875338;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121509	108121509	NC_000011.9:g.108121509A>G	ClinGen:CA476671914	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1320_1321del (p.Gln441fs)	472	ATM	Pathogenic	1555070745	RCV000627954;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121510	108121511	11:g.108121510_108121511del	ClinGen:CA658797787	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1319C>T (p.Ser440Phe)	472	ATM	Uncertain significance	773895161	RCV000213092\|RCV000483346\|RCV001207324;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121511	108121511	11:g.108121511C>T	ClinGen:CA6264799	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1320T>G (p.Ser440=)	472	ATM	Likely benign	-1	RCV003021619;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121512	108121512		-
NM_000051.4(ATM):c.1321C>T (p.Gln441Ter)	472	ATM	Pathogenic	1565382267	RCV000771731\|RCV001223497\|RCV003229860;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121513	108121513	NC_000011.9:g.108121513C>T	-
NM_000051.4(ATM):c.1323G>A (p.Gln441=)	472	ATM	Likely benign	2080095950	RCV001492940;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121515	108121515	108121515	-
NM_000051.4(ATM):c.1323G>C (p.Gln441His)	472	ATM	Uncertain significance	-1	RCV002300530;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121515	108121515	108121515	-
NM_000051.4(ATM):c.1324C>T (p.Leu442Phe)	472	ATM	Uncertain significance	1060501574	RCV000463100\|RCV001011017;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121516	108121516	NC_000011.9:g.108121516C>T	ClinGen:CA16613062	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1325T>C (p.Leu442Pro)	472	ATM	Uncertain significance	1064794732	RCV000481116\|RCV001041709;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121517	108121517	11:g.108121517T>C	ClinGen:CA16619115	CN169374 not specified;
NM_000051.4(ATM):c.1327C>T (p.Leu443=)	472	ATM	Likely benign	1057524185	RCV000440677\|RCV002060066;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121519	108121519	11:g.108121519C>T	ClinGen:CA16606025	CN169374 not specified;
NM_000051.4(ATM):c.1327C>G (p.Leu443Val)	472	ATM	Uncertain significance	1057524185	RCV001366166;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121519	108121519	108121519	-
NM_000051.4(ATM):c.1329A>C (p.Leu443=)	472	ATM	Likely benign	201460863	RCV000566908\|RCV001418064\|RCV001720203;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121521	108121521	11:g.108121521A>C	ClinGen:CA6264800	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1329A>G (p.Leu443=)	472	ATM	Likely benign	201460863	RCV000628267;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121521	108121521	11:g.108121521A>G	ClinGen:CA476671923	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1333del (p.Gln445fs)	472	ATM	Pathogenic/Likely pathogenic	1060501701	RCV000465109\|RCV000572783\|RCV002467448;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121522	108121522	NC_000011.9:g.108121525del	ClinGen:CA16613069	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1330C>T (p.Pro444Ser)	472	ATM	Uncertain significance	-1	RCV002815565;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121522	108121522	NC_000011.9:g.108121522C>T	-
NM_000051.4(ATM):c.1331C>A (p.Pro444His)	472	ATM	Uncertain significance	2080096939	RCV001063684;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121523	108121523	11:g.108121523C>A	-
NM_000051.4(ATM):c.1332C>A (p.Pro444=)	472	ATM	Benign/Likely benign	763361384	RCV000163928\|RCV000206632\|RCV000587079\|RCV001541536;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108121524	108121524	11:g.108121524C>A	ClinGen:CA189541	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1333C>T (p.Gln445Ter)	472	ATM	Pathogenic	2080097197	RCV001224898;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121525	108121525	11:g.108121525C>T	-
NM_000051.4(ATM):c.1334A>G (p.Gln445Arg)	472	ATM	Uncertain significance	1591523341	RCV000814103\|RCV001011107\|RCV002280142;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108121526	108121526	11:g.108121526A>G	-
NM_000051.4(ATM):c.1335A>G (p.Gln445=)	472	ATM	Conflicting interpretations of pathogenicity	1385656085	RCV000561989\|RCV000690981\|RCV001591327;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121527	108121527	11:g.108121527A>G	ClinGen:CA476671927	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1336C>A (p.Gln446Lys)	472	ATM	Uncertain significance	587782121	RCV000130653\|RCV000481336\|RCV001327065;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121528	108121528	11:g.108121528C>A	ClinGen:CA166834	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1337A>G (p.Gln446Arg)	472	ATM	Uncertain significance	1292838154	RCV001997723;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121529	108121529	108121529	-
NM_000051.4(ATM):c.1338G>A (p.Gln446=)	472	ATM	Likely benign	771673512	RCV001181996\|RCV002559793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121530	108121530	11:g.108121530G>A	-
NM_000051.4(ATM):c.1339C>T (p.Arg447Ter)	472	ATM	Pathogenic/Likely pathogenic	587779815	RCV000115141\|RCV000169409\|RCV000211960\|RCV001258117\|RCV003162534\|RCV003460799;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MedGen:C3469522\|Human Phenotype Ontology:HP:001212	11	108121531	108121531	NC_000011.9:g.108121531C>T	ClinGen:CA274271	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1340G>A (p.Arg447Gln)	472	ATM	Uncertain significance	760676955	RCV000219262\|RCV000555662\|RCV001193008\|RCV001582744\|RCV003462432;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121532	108121532	11:g.108121532G>A	ClinGen:CA6264802	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1340G>T (p.Arg447Leu)	472	ATM	Uncertain significance	760676955	RCV000628142\|RCV001010948\|RCV003237350;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121532	108121532	11:g.108121532G>T	ClinGen:CA382533743	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1340G>C (p.Arg447Pro)	472	ATM	Uncertain significance	760676955	RCV001348992;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121532	108121532	108121532	-
NM_000051.4(ATM):c.1341A>T (p.Arg447=)	472	ATM	Likely benign	2135319279	RCV002192651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121533	108121533	108121533	-
NM_000051.4(ATM):c.1342C>T (p.His448Tyr)	472	ATM	Uncertain significance	2080098243	RCV001240282;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121534	108121534	11:g.108121534C>T	-
NM_000051.4(ATM):c.1342C>G (p.His448Asp)	472	ATM	Uncertain significance	-1	RCV002962372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121534	108121534	NC_000011.9:g.108121534C>G	-
NM_000051.4(ATM):c.1343A>G (p.His448Arg)	472	ATM	Conflicting interpretations of pathogenicity	1555070781	RCV000566516\|RCV001343094;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121535	108121535	11:g.108121535A>G	ClinGen:CA382533748	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1348del (p.Glu450fs)	472	ATM	Pathogenic	758004668	RCV000686580\|RCV002386169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121537	108121537	11:g.108121537_108121537del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1345G>A (p.Gly449Arg)	472	ATM	Uncertain significance	-1	RCV003016092;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121537	108121537	NC_000011.9:g.108121537G>A	-
NM_000051.4(ATM):c.1346G>A (p.Gly449Glu)	472	ATM	Uncertain significance	1163918420	RCV000526412\|RCV000582808\|RCV003470664;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121538	108121538	NC_000011.9:g.108121538G>A	ClinGen:CA382533760	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1347G>A (p.Gly449=)	472	ATM	Likely benign	1591523440	RCV000977025\|RCV001805947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121539	108121539	11:g.108121539G>A	-
NM_000051.4(ATM):c.1348G>A (p.Glu450Lys)	472	ATM	Uncertain significance	1555070786	RCV000538989;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121540	108121540	NC_000011.9:g.108121540G>A	ClinGen:CA382533765	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1351C>T (p.Arg451Cys)	472	ATM	Conflicting interpretations of pathogenicity	201719927	RCV000164863\|RCV000200270\|RCV000235327\|RCV003390868;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|	11	108121543	108121543	11:g.108121543C>T	ClinGen:CA191951	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1351C>G (p.Arg451Gly)	472	ATM	Uncertain significance	201719927	RCV001916528;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121543	108121543	108121543	-
NM_000051.4(ATM):c.1352G>A (p.Arg451His)	472	ATM	Uncertain significance	554805703	RCV000463733\|RCV000481180\|RCV000566799\|RCV001535667\|RCV001821250\|RCV003470435;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN16937	11	108121544	108121544	NC_000011.9:g.108121544G>A	ClinGen:CA6264804	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1354A>G (p.Thr452Ala)	472	ATM	Uncertain significance	1324524747	RCV000779802\|RCV001011140\|RCV001054810\|RCV001798977\|RCV003472312;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121546	108121546	NC_000011.9:g.108121546A>G	-
NM_000051.4(ATM):c.1354A>T (p.Thr452Ser)	472	ATM	Uncertain significance	1324524747	RCV000792488;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121546	108121546	11:g.108121546A>T	-
NM_000051.4(ATM):c.1355del (p.Thr452fs)	472	ATM	Pathogenic/Likely pathogenic	587781776	RCV000130017\|RCV000466554\|RCV000520020\|RCV003467128;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121547	108121547	11:g.108121547_108121547del	ClinGen:CA165539	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1356A>G (p.Thr452=)	472	ATM	Likely benign	1555070803	RCV000564096\|RCV001550151\|RCV002060380;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121548	108121548	11:g.108121548A>G	ClinGen:CA476671941	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1358C>T (p.Pro453Leu)	472	ATM	Uncertain significance	786204124	RCV000168080\|RCV002225488\|RCV002247574\|RCV002381536;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121550	108121550	NC_000011.9:g.108121550C>T	ClinGen:CA334233	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1359A>G (p.Pro453=)	472	ATM	Likely benign	786203693	RCV000167109\|RCV000460202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121551	108121551	11:g.108121551A>G	ClinGen:CA197515	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1360T>C (p.Tyr454His)	472	ATM	Uncertain significance	1555070814	RCV000555904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121552	108121552	NC_000011.9:g.108121552T>C	ClinGen:CA382533800	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1362T>C (p.Tyr454=)	472	ATM	Likely benign	1373614735	RCV000562334\|RCV001461451;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121554	108121554	11:g.108121554T>C	ClinGen:CA476671945	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1362T>A (p.Tyr454Ter)	472	ATM	Pathogenic	-1	RCV003056240;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121554	108121554	NC_000011.9:g.108121554T>A	-
NM_000051.4(ATM):c.1363G>A (p.Val455Met)	472	ATM	Uncertain significance	368879876	RCV000221079\|RCV000801607\|RCV003338464;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121555	108121555	11:g.108121555G>A	ClinGen:CA10579003	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1364T>C (p.Val455Ala)	472	ATM	Uncertain significance	876658772	RCV000221315\|RCV000532379\|RCV000590379\|RCV003417786;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|	11	108121556	108121556	11:g.108121556T>C	ClinGen:CA10579004	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1365G>A (p.Val455=)	472	ATM	Likely benign	765130666	RCV001396253;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121557	108121557	108121557	-
NM_000051.4(ATM):c.1367del (p.Leu456fs)	472	ATM	Pathogenic/Likely pathogenic	1555070832	RCV000657487\|RCV001829818;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121558	108121558	11:g.108121558_108121558del	-	CN517202 not provided;
NM_000051.4(ATM):c.1368dup (p.Arg457fs)	472	ATM	Pathogenic	1565382593	RCV000701665;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121559	108121560	11:g.108121559_108121560insA	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1368A>G (p.Leu456=)	472	ATM	Likely benign	750579940	RCV000220448\|RCV000587148\|RCV000855551\|RCV001079694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121560	108121560	11:g.108121560A>G	ClinGen:CA6264807	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1369C>T (p.Arg457Ter)	472	ATM	Pathogenic	749036865	RCV000205849\|RCV000493633\|RCV000762813\|RCV001814115\|RCV003322602;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Hu	11	108121561	108121561	NC_000011.9:g.108121561C>T	ClinGen:CA349954	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1369C>G (p.Arg457Gly)	472	ATM	Uncertain significance	749036865	RCV000229490\|RCV000777656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121561	108121561	NC_000011.9:g.108121561C>G	ClinGen:CA6264808	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1370G>T (p.Arg457Leu)	472	ATM	Uncertain significance	780097986	RCV000204243\|RCV000479646\|RCV000763688\|RCV001011187\|RCV002288822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	11	108121562	108121562	NC_000011.9:g.108121562G>T	ClinGen:CA348487	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1370G>A (p.Arg457Gln)	472	ATM	Uncertain significance	780097986	RCV000545001\|RCV000566779\|RCV000761803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108121562	108121562	NC_000011.9:g.108121562G>A	ClinGen:CA6264809	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1370G>C (p.Arg457Pro)	472	ATM	Uncertain significance	-1	RCV002302213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121562	108121562	108121562	-
NM_000051.4(ATM):c.1372T>C (p.Cys458Arg)	472	ATM	Uncertain significance	876660619	RCV000222457\|RCV000691730;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121564	108121564	11:g.108121564T>C	ClinGen:CA10579005	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1373G>A (p.Cys458Tyr)	472	ATM	Uncertain significance	1064796013	RCV000628187\|RCV001525983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121565	108121565	NC_000011.9:g.108121565G>A	ClinGen:CA382533840	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1374C>T (p.Cys458=)	472	ATM	Likely benign	2135320531	RCV001409813\|RCV002384598;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121566	108121566	108121566	-
NM_000051.4(ATM):c.1374C>G (p.Cys458Trp)	472	ATM	Uncertain significance	2135320531	RCV001991406;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121566	108121566	108121566	-
NM_000051.4(ATM):c.1375C>G (p.Leu459Val)	472	ATM	Uncertain significance	1064794635	RCV000480993\|RCV001524372\|RCV001865453;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121567	108121567	11:g.108121567C>G	ClinGen:CA16619117	CN169374 not specified;
NM_000051.4(ATM):c.1378dup (p.Thr460fs)	472	ATM	Pathogenic	2080101851	RCV001046282;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121569	108121570	11:g.108121569_108121570insA	-
NM_000051.4(ATM):c.1378A>C (p.Thr460Pro)	472	ATM	Conflicting interpretations of pathogenicity	587782729	RCV000132224\|RCV000471709\|RCV000483286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121570	108121570	11:g.108121570A>C	ClinGen:CA169445	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1379C>T (p.Thr460Met)	472	ATM	Conflicting interpretations of pathogenicity	587781841	RCV000130139\|RCV000466948\|RCV000478287\|RCV001196781;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121571	108121571	11:g.108121571C>T	ClinGen:CA165785	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1379C>G (p.Thr460Arg)	472	ATM	Uncertain significance	587781841	RCV001011253\|RCV001832331;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121571	108121571	11:g.108121571C>G	-
NM_000051.4(ATM):c.1379C>A (p.Thr460Lys)	472	ATM	Uncertain significance	-1	RCV002381109\|RCV003095062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121571	108121571	108121571	-
NM_000051.4(ATM):c.1380G>C (p.Thr460=)	472	ATM	Benign/Likely benign	145333518	RCV000123720\|RCV000211961\|RCV000589439\|RCV001079887\|RCV001355437\|RCV001798411\|RCV003315832;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108121572	108121572	NC_000011.9:g.108121572G>C	ClinGen:CA289532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1380G>A (p.Thr460=)	472	ATM	Likely benign	145333518	RCV000221800\|RCV000430997\|RCV000804185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121572	108121572	11:g.108121572G>A	ClinGen:CA6264810	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1381G>A (p.Glu461Lys)	472	ATM	Uncertain significance	781578507	RCV000691024\|RCV003465577;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121573	108121573	NC_000011.9:g.108121573G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1382A>G (p.Glu461Gly)	472	ATM	Uncertain significance	2080102342	RCV001968148\|RCV003365590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121574	108121574	108121574	-
NM_000051.4(ATM):c.1383A>G (p.Glu461=)	472	ATM	Likely benign	748493136	RCV001417245;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121575	108121575	108121575	-
NM_000051.4(ATM):c.1385T>C (p.Val462Ala)	472	ATM	Uncertain significance	1555070869	RCV000627885\|RCV002256417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121577	108121577	11:g.108121577T>C	ClinGen:CA382533883	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1387G>A (p.Ala463Thr)	472	ATM	Uncertain significance	1565382695	RCV000773755\|RCV000814189;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121579	108121579	NC_000011.9:g.108121579G>A	-
NM_000051.4(ATM):c.1389A>G (p.Ala463=)	472	ATM	Likely benign	2080102935	RCV001178056\|RCV002068212;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121581	108121581	11:g.108121581A>G	-
NM_000051.4(ATM):c.1391_1395del (p.Leu464fs)	472	ATM	Pathogenic	2080103035	RCV001213299;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121582	108121586	11:g.108121582_108121586del	-
NM_000051.4(ATM):c.1392G>A (p.Leu464=)	472	ATM	Likely benign	760191806	RCV000162635\|RCV000431497\|RCV000474661;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121584	108121584	11:g.108121584G>A	ClinGen:CA186599	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1392G>T (p.Leu464Phe)	472	ATM	Uncertain significance	760191806	RCV000214248\|RCV001058226;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121584	108121584	11:g.108121584G>T	ClinGen:CA10579006	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1393T>C (p.Cys465Arg)	472	ATM	Uncertain significance	-1	RCV003074954;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121585	108121585	NC_000011.9:g.108121585T>C	-
NM_000051.4(ATM):c.1394G>C (p.Cys465Ser)	472	ATM	Uncertain significance	1555070888	RCV000569104\|RCV001829603;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121586	108121586	NC_000011.9:g.108121586G>C	ClinGen:CA382533907	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1396C>T (p.Gln466Ter)	472	ATM	Pathogenic	876660485	RCV000221369\|RCV000486468\|RCV000552755;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121588	108121588	11:g.108121588C>T	ClinGen:CA10579008	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1396C>G (p.Gln466Glu)	472	ATM	Uncertain significance	876660485	RCV000561327\|RCV001340515\|RCV003465187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121588	108121588	NC_000011.9:g.108121588C>G	ClinGen:CA382533915	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1397A>G (p.Gln466Arg)	472	ATM	Uncertain significance	770028453	RCV001011355\|RCV001275693\|RCV003413802;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108121589	108121589	11:g.108121589A>G	-
NM_000051.4(ATM):c.1398A>G (p.Gln466=)	472	ATM	Uncertain significance	1591523834	RCV000791982;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121590	108121590	11:g.108121590A>G	-
NM_000051.4(ATM):c.1401C>A (p.Asp467Glu)	472	ATM	Uncertain significance	2135321564	RCV001997924;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121593	108121593	108121593	-
NM_000051.4(ATM):c.1402_1403del (p.Lys468fs)	472	ATM	Pathogenic/Likely pathogenic	587781347	RCV000129125\|RCV000169588\|RCV000236583\|RCV002285143\|RCV002288622;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108121594	108121595	11:g.108121594_108121595del	ClinGen:CA163840	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1402A>G (p.Lys468Glu)	472	ATM	Uncertain significance	876660820	RCV000223541\|RCV001244408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121594	108121594	11:g.108121594A>G	ClinGen:CA10579009	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1403A>G (p.Lys468Arg)	472	ATM	Uncertain significance	1060501628	RCV000463512\|RCV002259340\|RCV002393112;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121595	108121595	NC_000011.9:g.108121595A>G	ClinGen:CA16613317	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1404G>A (p.Lys468=)	472	ATM	Likely benign	2135321676	RCV001496491\|RCV002388531;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121596	108121596	108121596	-
NM_000051.4(ATM):c.1406_1413del (p.Arg469fs)	472	ATM	Pathogenic	2135321724	RCV001911389;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121598	108121605	108121597	-
NM_000051.4(ATM):c.1407G>A (p.Arg469=)	472	ATM	Likely benign	1555070912	RCV000571534\|RCV001489178;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121599	108121599	NC_000011.9:g.108121599G>A	ClinGen:CA476744817	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1408_1423del (p.Ser470fs)	472	ATM	Pathogenic	2080104347	RCV001247234;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121600	108121615	11:g.108121600_108121615del	-
NM_000051.4(ATM):c.1409C>G (p.Ser470Ter)	472	ATM	Conflicting interpretations of pathogenicity	1591523878	RCV001236897\|RCV003166469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121601	108121601	11:g.108121601C>G	-
NM_000051.4(ATM):c.1410A>C (p.Ser470=)	472	ATM	Likely benign	939650649	RCV000533455\|RCV000575729;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121602	108121602	NC_000011.9:g.108121602A>C	ClinGen:CA476744818	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1410A>G (p.Ser470=)	472	ATM	Likely benign	939650649	RCV000564562\|RCV001425307;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121602	108121602	11:g.108121602A>G	ClinGen:CA228390971	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1411A>C (p.Asn471His)	472	ATM	Uncertain significance	2080104786	RCV001053502\|RCV001180117;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121603	108121603	11:g.108121603A>C	-
NM_000051.4(ATM):c.1416A>G (p.Leu472=)	472	ATM	Likely benign	786201691	RCV000164101\|RCV001396051;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121608	108121608	11:g.108121608A>G	ClinGen:CA190045	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1417G>A (p.Glu473Lys)	472	ATM	Uncertain significance	1565382834	RCV000701407\|RCV000775842;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121609	108121609	NC_000011.9:g.108121609G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1418A>G (p.Glu473Gly)	472	ATM	Uncertain significance	1555070923	RCV000545213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121610	108121610	NC_000011.9:g.108121610A>G	ClinGen:CA382533994	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1419A>G (p.Glu473=)	472	ATM	Likely benign	2135322174	RCV002149242;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121611	108121611	108121611	-
NM_000051.4(ATM):c.1420_1423delinsTCTGAC (p.Ser475fs)	472	ATM	Pathogenic	2080105212	RCV001245506\|RCV002393651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121612	108121615	11:g.108121612_108121613insCTGAC	-
NM_000051.4(ATM):c.1421G>T (p.Ser474Ile)	472	ATM	Uncertain significance	876659240	RCV000218472\|RCV000469416\|RCV001799640\|RCV003475019;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121613	108121613	11:g.108121613G>T	ClinGen:CA10579010	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1421G>A (p.Ser474Asn)	472	ATM	Uncertain significance	876659240	RCV000807748\|RCV001011511\|RCV001269381;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	11	108121613	108121613	11:g.108121613G>A	-
NM_000051.4(ATM):c.1425A>G (p.Ser475=)	472	ATM	Likely benign	2080105606	RCV001424892;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121617	108121617	108121617	-
NM_000051.4(ATM):c.1426C>T (p.Gln476Ter)	472	ATM	Pathogenic	-1	RCV002967565;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121618	108121618	NC_000011.9:g.108121618C>T	-
NM_000051.4(ATM):c.1427A>G (p.Gln476Arg)	472	ATM	Uncertain significance	1397399631	RCV000557761\|RCV000777262;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121619	108121619	NC_000011.9:g.108121619A>G	ClinGen:CA382534030	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1427A>T (p.Gln476Leu)	472	ATM	Uncertain significance	1397399631	RCV001900490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121619	108121619	108121619	-
NM_000051.4(ATM):c.1428A>G (p.Gln476=)	472	ATM	Likely benign	745509434	RCV000163165\|RCV001406436;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121620	108121620	11:g.108121620A>G	ClinGen:CA187626	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1429A>G (p.Lys477Glu)	472	ATM	Uncertain significance	2080106015	RCV001227338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121621	108121621	11:g.108121621A>G	-
NM_000051.4(ATM):c.1431G>C (p.Lys477Asn)	472	ATM	Uncertain significance	1555070941	RCV000574447\|RCV000697193\|RCV001357554\|RCV003465228;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121623	108121623	11:g.108121623G>C	ClinGen:CA382534043	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1431G>A (p.Lys477=)	472	ATM	Likely benign	1555070941	RCV000608853\|RCV000628266\|RCV001179647;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121623	108121623	11:g.108121623G>A	ClinGen:CA476744829	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1432T>C (p.Ser478Pro)	472	ATM	Uncertain significance	2080106232	RCV001225461;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121624	108121624	11:g.108121624T>C	-
NM_000051.4(ATM):c.1433C>A (p.Ser478Ter)	472	ATM	Pathogenic	2080106350	RCV001233259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121625	108121625	11:g.108121625C>A	-
NM_000051.4(ATM):c.1433C>T (p.Ser478Leu)	472	ATM	Uncertain significance	-1	RCV002305367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121625	108121625	108121625	-
NM_000051.4(ATM):c.1435_1436del (p.Asp479fs)	472	ATM	Pathogenic/Likely pathogenic	1555070947	RCV000568204\|RCV000628085\|RCV000657294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121626	108121627	11:g.108121626_108121627del	ClinGen:CA658656143	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1434A>G (p.Ser478=)	472	ATM	Conflicting interpretations of pathogenicity	2135322636	RCV001484413\|RCV002258280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121626	108121626	108121626	-
NM_000051.4(ATM):c.1435G>T (p.Asp479Tyr)	472	ATM	Uncertain significance	1555070953	RCV000533632\|RCV001011567\|RCV001552437;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108121627	108121627	NC_000011.9:g.108121627G>T	ClinGen:CA382534059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1436A>G (p.Asp479Gly)	472	ATM	Uncertain significance	1555070958	RCV000567124\|RCV000590526\|RCV000627958\|RCV001197304;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121628	108121628	NC_000011.9:g.108121628A>G	ClinGen:CA382534061	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1436A>C (p.Asp479Ala)	472	ATM	Uncertain significance	1555070958	RCV001965911;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121628	108121628	108121628	-
NM_000051.4(ATM):c.1440A>C (p.Leu480Phe)	472	ATM	Uncertain significance	370240037	RCV000165898\|RCV000235274\|RCV000233396\|RCV000779758\|RCV003150026\|RCV002498820\|RCV003474870;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:CN221562\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:001641	11	108121632	108121632	11:g.108121632A>C	ClinGen:CA194471	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1440A>T (p.Leu480Phe)	472	ATM	Uncertain significance	370240037	RCV000461934;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121632	108121632	NC_000011.9:g.108121632A>T	ClinGen:CA16613320	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1441T>G (p.Leu481Val)	472	ATM	Uncertain significance	775080283	RCV001316042;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121633	108121633	108121633	-
NM_000051.4(ATM):c.1441T>C (p.Leu481=)	472	ATM	Likely benign	-1	RCV002394374\|RCV003095164;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121633	108121633		-
NM_000051.4(ATM):c.1442T>G (p.Leu481Ter)	472	ATM	Pathogenic	1555070980	RCV000546281\|RCV000564972\|RCV000657713\|RCV000762814\|RCV002221550;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108121634	108121634	NC_000011.9:g.108121634T>G	ClinGen:CA382534080	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1446del (p.Lys482fs)	472	ATM	Pathogenic	1060501670	RCV000476796\|RCV001011625\|RCV003321606;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108121635	108121635	NC_000011.9:g.108121638del	ClinGen:CA16612986	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1443A>C (p.Leu481Phe)	472	ATM	Uncertain significance	753808755	RCV000575362\|RCV000813284;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121635	108121635	NC_000011.9:g.108121635A>C	ClinGen:CA228391034	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln)	472	ATM	Conflicting interpretations of pathogenicity	202173660	RCV000115142\|RCV000197378\|RCV000211962\|RCV000779759\|RCV001762217;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121636	108121636	NC_000011.9:g.108121636A>C	ClinGen:CA286729	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1447C>T (p.Leu483Phe)	472	ATM	Uncertain significance	2135323121	RCV001927556;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121639	108121639	108121639	-
NM_000051.4(ATM):c.1449C>G (p.Leu483=)	472	ATM	Likely benign	948934905	RCV002087939;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121641	108121641	108121641	-
NM_000051.4(ATM):c.1450T>C (p.Trp484Arg)	472	ATM	Uncertain significance	2080108178	RCV001051552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121642	108121642	11:g.108121642T>C	-
NM_000051.4(ATM):c.1455T>G (p.Asn485Lys)	472	ATM	Uncertain significance	1385019623	RCV000535296\|RCV002395261;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121647	108121647	NC_000011.9:g.108121647T>G	ClinGen:CA382534130	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1455T>C (p.Asn485=)	472	ATM	Likely benign	1385019623	RCV000559110\|RCV000570366;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121647	108121647	NC_000011.9:g.108121647T>C	ClinGen:CA476744841	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1456A>G (p.Lys486Glu)	472	ATM	Uncertain significance	-1	RCV003044634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121648	108121648	NC_000011.9:g.108121648A>G	-
NM_000051.4(ATM):c.1462T>C (p.Trp488Arg)	472	ATM	Uncertain significance	2135323595	RCV001893935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121654	108121654	108121654	-
NM_000051.4(ATM):c.1463G>A (p.Trp488Ter)	472	ATM	Pathogenic	879254093	RCV000236088\|RCV000476772\|RCV001689762;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121655	108121655	NC_000011.9:g.108121655G>A	ClinGen:CA10584324	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1463G>T (p.Trp488Leu)	472	ATM	Uncertain significance	-1	RCV002302258;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121655	108121655	108121655	-
NM_000051.4(ATM):c.1463G>C (p.Trp488Ser)	472	ATM	Uncertain significance	-1	RCV002396776\|RCV003103709;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121655	108121655	108121655	-
NM_000051.4(ATM):c.1464G>T (p.Trp488Cys)	472	ATM	Conflicting interpretations of pathogenicity	377597949	RCV000131552\|RCV000168391\|RCV000235099\|RCV000515383\|RCV001199851\|RCV001357286\|RCV003462015;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108121656	108121656	11:g.108121656G>T	ClinGen:CA294394	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1464G>A (p.Trp488Ter)	472	ATM	Conflicting interpretations of pathogenicity	377597949	RCV001011523\|RCV001059130\|RCV001258178\|RCV001814257;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MedGen:C3469522\|Human Phenotype Ontology:HP:0011442,MedGen:C402335	11	108121656	108121656	11:g.108121656G>A	-
NM_000051.4(ATM):c.1464G>C (p.Trp488Cys)	472	ATM	Uncertain significance	377597949	RCV001067758;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121656	108121656	11:g.108121656G>C	-
NM_000051.4(ATM):c.1466_1467del (p.Cys489fs)	472	ATM	Pathogenic	2080108960	RCV001238880;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121656	108121657	11:g.108121656_108121657del	-
NM_000051.4(ATM):c.1465T>G (p.Cys489Gly)	472	ATM	Uncertain significance	1591524158	RCV001011530\|RCV001218615;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121657	108121657	11:g.108121657T>G	-
NM_000051.4(ATM):c.1466G>T (p.Cys489Phe)	472	ATM	Uncertain significance	776412334	RCV000469083\|RCV001011533\|RCV001558594\|RCV003463891;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121658	108121658	NC_000011.9:g.108121658G>T	ClinGen:CA6264817	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1467dup (p.Ile490fs)	472	ATM	Pathogenic	1555071002	RCV000571047\|RCV001382938;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121658	108121659	NC_000011.9:g.108121659dup	ClinGen:CA658656147	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1466G>C (p.Cys489Ser)	472	ATM	Uncertain significance	776412334	RCV001044095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121658	108121658	11:g.108121658G>C	-
NM_000051.4(ATM):c.1467T>C (p.Cys489=)	472	ATM	Likely benign	1591524178	RCV001357753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121659	108121659	108121659	-
NM_000051.4(ATM):c.1468A>G (p.Ile490Val)	472	ATM	Uncertain significance	761850075	RCV000227312\|RCV001011720\|RCV003469120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121660	108121660	11:g.108121660A>G	ClinGen:CA6264818	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1469T>C (p.Ile490Thr)	472	ATM	Uncertain significance	1565383172	RCV000706019\|RCV001011731;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121661	108121661	NC_000011.9:g.108121661T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1471dup (p.Thr491fs)	472	ATM	Pathogenic	2080109832	RCV001203173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121662	108121663	11:g.108121662_108121663insA	-
NM_000051.4(ATM):c.1470T>G (p.Ile490Met)	472	ATM	Uncertain significance	-1	RCV002588136;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121662	108121662	NC_000011.9:g.108121662T>G	-
NM_000051.4(ATM):c.1473C>G (p.Thr491=)	472	ATM	Likely benign	764937436	RCV000199967\|RCV001177915;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121665	108121665	NC_000011.9:g.108121665C>G	ClinGen:CA338997	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1473C>T (p.Thr491=)	472	ATM	Likely benign	764937436	RCV001011778\|RCV002068842;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121665	108121665	11:g.108121665C>T	-
NM_000051.4(ATM):c.1473C>A (p.Thr491=)	472	ATM	Likely benign	764937436	RCV002199860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121665	108121665	108121665	-
NM_000051.4(ATM):c.1476T>C (p.Phe492=)	472	ATM	Likely benign	1591524241	RCV001446239;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121668	108121668	11:g.108121668T>C	-
NM_000051.4(ATM):c.1477C>T (p.Arg493Cys)	472	ATM	Uncertain significance	750280306	RCV000547619\|RCV000569968\|RCV003235270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108121669	108121669	11:g.108121669C>T	ClinGen:CA6264819	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1478G>A (p.Arg493His)	472	ATM	Uncertain significance	1565383235	RCV000706702\|RCV001188194;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121670	108121670	NC_000011.9:g.108121670G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1481G>A (p.Gly494Asp)	472	ATM	Conflicting interpretations of pathogenicity	786202233	RCV000164949\|RCV000669269\|RCV001574162\|RCV003153443\|RCV003462158;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108121673	108121673	11:g.108121673G>A	ClinGen:CA192151	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1481G>T (p.Gly494Val)	472	ATM	Uncertain significance	786202233	RCV000528316\|RCV002395262;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121673	108121673	NC_000011.9:g.108121673G>T	ClinGen:CA382534188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1482T>G (p.Gly494=)	472	ATM	Likely benign	1335320350	RCV000936971\|RCV001175801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121674	108121674	11:g.108121674T>G	-
NM_000051.4(ATM):c.1483dup (p.Ile495fs)	472	ATM	Pathogenic	2135324290	RCV001804540\|RCV002541409;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121674	108121675	108121674	-
NM_000051.4(ATM):c.1483A>G (p.Ile495Val)	472	ATM	Uncertain significance	786201969	RCV000164527\|RCV000589044\|RCV000627916\|RCV002247566;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108121675	108121675	11:g.108121675A>G	ClinGen:CA191185	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1484T>G (p.Ile495Arg)	472	ATM	Uncertain significance	-1	RCV002302134;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121676	108121676	108121676	-
NM_000051.4(ATM):c.1485A>G (p.Ile495Met)	472	ATM	Uncertain significance	1565383283	RCV000687830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121677	108121677	11:g.108121677A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1486_1487insCA (p.Ser496fs)	472	ATM	Pathogenic	-1	RCV002796143\|RCV003138360;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121677	108121678	NC_000011.9:g.108121678_108121679insCA	-
NM_000051.4(ATM):c.1487G>A (p.Ser496Asn)	472	ATM	Uncertain significance	778890679	RCV000218331\|RCV000627906\|RCV001354109;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121679	108121679	11:g.108121679G>A	ClinGen:CA10579012	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1487G>T (p.Ser496Ile)	472	ATM	Uncertain significance	778890679	RCV000535505\|RCV001011830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121679	108121679	NC_000011.9:g.108121679G>T	ClinGen:CA382534200	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1487_1489del (p.Ser496_Ser497delinsThr)	472	ATM	Uncertain significance	2080111322	RCV001308994\|RCV001806109;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121679	108121681	108121678	-
NM_000051.4(ATM):c.1489T>A (p.Ser497Thr)	472	ATM	Uncertain significance	1375637948	RCV001011843\|RCV001215851;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121681	108121681	11:g.108121681T>A	-
NM_000051.4(ATM):c.1490C>T (p.Ser497Phe)	472	ATM	Uncertain significance	2135324525	RCV002047025;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121682	108121682	108121682	-
NM_000051.4(ATM):c.1491T>A (p.Ser497=)	472	ATM	Likely benign	1555071057	RCV000548131\|RCV001011851;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121683	108121683	NC_000011.9:g.108121683T>A	ClinGen:CA476744859	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1491T>C (p.Ser497=)	472	ATM	Likely benign	1555071057	RCV001180938\|RCV002068283;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121683	108121683	11:g.108121683T>C	-
NM_000051.4(ATM):c.1491del (p.Glu498fs)	472	ATM	Pathogenic	2135324604	RCV001940591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121683	108121683	108121682	-
NM_000051.4(ATM):c.1492G>C (p.Glu498Gln)	472	ATM	Uncertain significance	1555071060	RCV000568261\|RCV000688060\|RCV003465219;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121684	108121684	NC_000011.9:g.108121684G>C	ClinGen:CA382534210	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1493A>G (p.Glu498Gly)	472	ATM	Uncertain significance	-1	RCV002570161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121685	108121685	NC_000011.9:g.108121685A>G	-
NM_000051.4(ATM):c.1494G>A (p.Glu498=)	472	ATM	Benign/Likely benign	763108858	RCV000573411\|RCV000628254\|RCV001595022;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121686	108121686	NC_000011.9:g.108121686G>A	ClinGen:CA6264820	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1494G>C (p.Glu498Asp)	472	ATM	Uncertain significance	763108858	RCV001300783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121686	108121686	108121686	-
NM_000051.4(ATM):c.1495C>T (p.Gln499Ter)	472	ATM	Pathogenic	1555071075	RCV000528534\|RCV001011781;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121687	108121687	NC_000011.9:g.108121687C>T	ClinGen:CA382534219	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1498A>C (p.Ile500Leu)	472	ATM	Uncertain significance	2080112487	RCV001240641;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121690	108121690	11:g.108121690A>C	-
NM_000051.4(ATM):c.1500A>G (p.Ile500Met)	472	ATM	Uncertain significance	2135324896	RCV001865012;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121692	108121692	108121692	-
NM_000051.4(ATM):c.1501C>T (p.Gln501Ter)	472	ATM	Pathogenic	1281817400	RCV000627873\|RCV001011901\|RCV003326478\|RCV003332213\|RCV003451482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480	11	108121693	108121693	11:g.108121693C>T	ClinGen:CA382534233	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1504G>A (p.Ala502Thr)	472	ATM	Uncertain significance	2080112799	RCV001225089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121696	108121696	11:g.108121696G>A	-
NM_000051.4(ATM):c.1505C>G (p.Ala502Gly)	472	ATM	Uncertain significance	766595156	RCV000483795\|RCV000566039\|RCV000688771;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121697	108121697	11:g.108121697C>G	ClinGen:CA6264821	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1507G>A (p.Glu503Lys)	472	ATM	Uncertain significance	-1	RCV002304470;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121699	108121699	108121699	-
NM_000051.4(ATM):c.1509A>T (p.Glu503Asp)	472	ATM	Uncertain significance	-1	RCV002390048\|RCV002464663\|RCV003095261;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121701	108121701	108121701	-
NM_000051.4(ATM):c.1510A>G (p.Asn504Asp)	472	ATM	Uncertain significance	2135325176	RCV001878517\|RCV002388717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121702	108121702	108121702	-
NM_000051.4(ATM):c.1511A>G (p.Asn504Ser)	472	ATM	Conflicting interpretations of pathogenicity	56365018	RCV000205555\|RCV000218923\|RCV001778794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108121703	108121703	11:g.108121703A>G	ClinGen:CA349700,UniProtKB:Q13315#VAR_041552	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1511A>C (p.Asn504Thr)	472	ATM	Uncertain significance	56365018	RCV002050724;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121703	108121703	108121703	-
NM_000051.4(ATM):c.1514_1515del (p.Phe505fs)	472	ATM	Pathogenic	1060501529	RCV000465182\|RCV001093022\|RCV003470412;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121705	108121706	NC_000011.9:g.108121706_108121707del	ClinGen:CA16613075	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1513T>C (p.Phe505Leu)	472	ATM	Uncertain significance	1591524421	RCV000807650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121705	108121705	11:g.108121705T>C	-
NM_000051.4(ATM):c.1514T>C (p.Phe505Ser)	472	ATM	Conflicting interpretations of pathogenicity	1555071109	RCV001011875\|RCV002550771;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121706	108121706	11:g.108121706T>C	-
NM_000051.4(ATM):c.1515T>C (p.Phe505=)	472	ATM	Likely benign	1057520521	RCV000421394\|RCV000564687\|RCV000628227;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121707	108121707	11:g.108121707T>C	ClinGen:CA16606149	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1516G>T (p.Gly506Cys)	472	ATM	Conflicting interpretations of pathogenicity	587779816	RCV000115143\|RCV000168231\|RCV000211963\|RCV000515225\|RCV001818258\|RCV003237336\|RCV003149791\|RCV003407490;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108121708	108121708	NC_000011.9:g.108121708G>T	ClinGen:CA286732	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1518C>T (p.Gly506=)	472	ATM	Likely benign	864622528	RCV001462052\|RCV002390548;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121710	108121710	11:g.108121710C>T	ClinGen:CA349448	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1518C>G (p.Gly506=)	472	ATM	Likely benign	864622528	RCV001505091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121710	108121710	11:g.108121710C>G	-
NM_000051.4(ATM):c.1520_1524del (p.Leu507fs)	472	ATM	Pathogenic	2080114187	RCV001218596;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121711	108121715	11:g.108121711_108121715del	-
NM_000051.4(ATM):c.1521A>G (p.Leu507=)	472	ATM	Likely benign	2135325598	RCV001489833\|RCV002396173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121713	108121713	108121713	-
NM_000051.4(ATM):c.1522C>T (p.Leu508Phe)	472	ATM	Uncertain significance	1011518082	RCV000512816\|RCV000541140\|RCV000569505;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121714	108121714	11:g.108121714C>T	ClinGen:CA228391092	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1524del (p.Gly509fs)	472	ATM	Pathogenic/Likely pathogenic	786204737	RCV000169584\|RCV000236634\|RCV000573650\|RCV003462269;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121715	108121715	NC_000011.9:g.108121716del	ClinGen:CA274435	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1523T>C (p.Leu508Pro)	472	ATM	Uncertain significance	1565383502	RCV000777509\|RCV001340683;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121715	108121715	NC_000011.9:g.108121715T>C	-
NM_000051.4(ATM):c.1524T>C (p.Leu508=)	472	ATM	Likely benign	559095379	RCV000166593\|RCV001461441\|RCV001795289;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108121716	108121716	11:g.108121716T>C	ClinGen:CA196255	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1525G>A (p.Gly509Arg)	472	ATM	Uncertain significance	-1	RCV002914128;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121717	108121717	NC_000011.9:g.108121717G>A	-
NM_000051.4(ATM):c.1526G>C (p.Gly509Ala)	472	ATM	Uncertain significance	-1	RCV003075927;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121718	108121718	NC_000011.9:g.108121718G>C	-
NM_000051.4(ATM):c.1530del (p.Ala510_Ile511insTer)	472	ATM	Pathogenic	2080115284	RCV001056429;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121721	108121721	11:g.108121721_108121721del	-
NM_000051.4(ATM):c.1531A>G (p.Ile511Val)	472	ATM	Uncertain significance	1591524572	RCV000822674\|RCV001354251\|RCV002397726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121723	108121723	11:g.108121723A>G	-
NM_000051.4(ATM):c.1532T>G (p.Ile511Arg)	472	ATM	Uncertain significance	2080115491	RCV001295452;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121724	108121724	108121724	-
NM_000051.4(ATM):c.1532T>C (p.Ile511Thr)	472	ATM	Uncertain significance	2080115491	RCV001340807\|RCV001762569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108121724	108121724	108121724	-
NM_000051.4(ATM):c.1533A>G (p.Ile511Met)	472	ATM	Uncertain significance	2080115604	RCV001304455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121725	108121725	108121725	-
NM_000051.4(ATM):c.1535T>G (p.Ile512Ser)	472	ATM	Uncertain significance	2135326136	RCV001359334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121727	108121727	108121727	-
NM_000051.4(ATM):c.1536T>A (p.Ile512=)	472	ATM	Likely benign	1060504296	RCV001432712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121728	108121728	NC_000011.9:g.108121728T>A	ClinGen:CA16613324	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1537C>T (p.Gln513Ter)	472	ATM	Pathogenic	865985297	RCV000568251\|RCV001865739\|RCV003332200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108121729	108121729	NC_000011.9:g.108121729C>T	ClinGen:CA228391108	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1538A>G (p.Gln513Arg)	472	ATM	Uncertain significance	753109010	RCV000525635\|RCV001797094\|RCV002404355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121730	108121730	11:g.108121730A>G	ClinGen:CA228391133	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1538A>C (p.Gln513Pro)	472	ATM	Uncertain significance	753109010	RCV000586403\|RCV001300280\|RCV001012089;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121730	108121730	11:g.108121730A>C	ClinGen:CA6264823	CN517202 not provided;
NM_000051.4(ATM):c.1538A>T (p.Gln513Leu)	472	ATM	Uncertain significance	753109010	RCV000627928\|RCV002404713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121730	108121730	NC_000011.9:g.108121730A>T	ClinGen:CA228391135	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1539G>C (p.Gln513His)	472	ATM	Uncertain significance	2080116342	RCV001213968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121731	108121731	11:g.108121731G>C	-
NM_000051.4(ATM):c.1540G>T (p.Gly514Cys)	472	ATM	Uncertain significance	1591524652	RCV001012109\|RCV001047747;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121732	108121732	11:g.108121732G>T	-
NM_000051.4(ATM):c.1541G>A (p.Gly514Asp)	472	ATM	Benign/Likely benign	2235000	RCV000120115\|RCV000128890\|RCV000224639\|RCV000401591\|RCV001357424\|RCV002225355\|RCV003149817\|RCV003315721;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108121733	108121733	11:g.108121733G>A	ClinGen:CA157059,UniProtKB:Q13315#VAR_010807	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1542T>C (p.Gly514=)	472	ATM	Likely benign	572567674	RCV000457947\|RCV000564261\|RCV001662440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108121734	108121734	NC_000011.9:g.108121734T>C	ClinGen:CA16612989	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1547T>C (p.Leu516Ser)	472	ATM	Conflicting interpretations of pathogenicity	786202195	RCV000164896\|RCV001349973;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121739	108121739	11:g.108121739T>C	ClinGen:CA192036	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1547T>G (p.Leu516Ter)	472	ATM	Pathogenic	786202195	RCV000542486\|RCV002404356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121739	108121739	NC_000011.9:g.108121739T>G	ClinGen:CA382534329	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1547_1550delinsA (p.Leu516_Val517delinsTyr)	472	ATM	Uncertain significance	1555071174	RCV000627850;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121739	108121742	NC_000011.9:g.108121739_108121742delinsA	ClinGen:CA658797788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1547T>A (p.Leu516Ter)	472	ATM	Pathogenic	786202195	RCV000699881;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121739	108121739	NC_000011.9:g.108121739T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1549G>A (p.Val517Ile)	472	ATM	Uncertain significance	2080117236	RCV001339337;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121741	108121741	108121741	-
NM_000051.4(ATM):c.1550T>G (p.Val517Gly)	472	ATM	Uncertain significance	777986229	RCV000222593\|RCV000628180;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121742	108121742	11:g.108121742T>G	ClinGen:CA10579014	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1550T>C (p.Val517Ala)	472	ATM	Uncertain significance	777986229	RCV000230077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121742	108121742	NC_000011.9:g.108121742T>C	ClinGen:CA10582794	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1550T>A (p.Val517Asp)	472	ATM	Uncertain significance	777986229	RCV001526213\|RCV001873695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121742	108121742	108121742	-
NM_000051.4(ATM):c.1551T>C (p.Val517=)	472	ATM	Likely benign	553020161	RCV001181997\|RCV001402708;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121743	108121743	11:g.108121743T>C	-
NM_000051.4(ATM):c.1552G>T (p.Glu518Ter)	472	ATM	Pathogenic	-1	RCV002894693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121744	108121744	NC_000011.9:g.108121744G>T	-
NM_000051.4(ATM):c.1554G>C (p.Glu518Asp)	472	ATM	Uncertain significance	2080117769	RCV001183326\|RCV001235365;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121746	108121746	11:g.108121746G>C	-
NM_000051.4(ATM):c.1555G>A (p.Val519Ile)	472	ATM	Uncertain significance	758056561	RCV000530412\|RCV000561046\|RCV003330744;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108121747	108121747	NC_000011.9:g.108121747G>A	ClinGen:CA382534343	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1555G>T (p.Val519Phe)	472	ATM	Uncertain significance	758056561	RCV000702050;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121747	108121747	NC_000011.9:g.108121747G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1556T>C (p.Val519Ala)	472	ATM	Uncertain significance	574458765	RCV000477403\|RCV001012102;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121748	108121748	NC_000011.9:g.108121748T>C	ClinGen:CA6264827	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1558G>A (p.Asp520Asn)	472	ATM	Uncertain significance	2080118143	RCV001926706\|RCV002397924;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121750	108121750	108121750	-
NM_000051.4(ATM):c.1560C>T (p.Asp520=)	472	ATM	Likely benign	1591524777	RCV000917939\|RCV001012183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121752	108121752	11:g.108121752C>T	-
NM_000051.4(ATM):c.1564_1565del (p.Glu522fs)	472	ATM	Pathogenic	587779817	RCV000115144\|RCV000169147\|RCV000211964\|RCV000709705\|RCV001263302\|RCV001357511\|RCV002051809\|RCV002477274\|RCV002508921;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Human Phenotype Ontology:HP:0001250,Human Pheno	11	108121753	108121754	NC_000011.9:g.108121754GA[1]	ClinGen:CA273990	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1561A>G (p.Arg521Gly)	472	ATM	Uncertain significance	2080118357	RCV001058950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121753	108121753	11:g.108121753A>G	-
NM_000051.4(ATM):c.1561A>C (p.Arg521=)	472	ATM	Likely benign	2080118357	RCV001440696;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121753	108121753	108121753	-
NM_000051.4(ATM):c.1564G>T (p.Glu522Ter)	472	ATM	Pathogenic	2080118610	RCV001200381\|RCV001388321;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121756	108121756	11:g.108121756G>T	-
NM_000051.4(ATM):c.1564G>A (p.Glu522Lys)	472	ATM	Uncertain significance	2080118610	RCV001993628;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121756	108121756	108121756	-
NM_000051.4(ATM):c.1566A>G (p.Glu522=)	472	ATM	Likely benign	-1	RCV002405520\|RCV003096943;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121758	108121758		-
NM_000051.4(ATM):c.1568T>C (p.Phe523Ser)	472	ATM	Uncertain significance	768038315	RCV001012176\|RCV001211187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121760	108121760	11:g.108121760T>C	-
NM_000051.4(ATM):c.1571G>A (p.Trp524Ter)	472	ATM	Pathogenic	2080119161	RCV001047863;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121763	108121763	11:g.108121763G>A	-
NM_000051.4(ATM):c.1572G>C (p.Trp524Cys)	472	ATM	Uncertain significance	1060501667	RCV000460054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121764	108121764	NC_000011.9:g.108121764G>C	ClinGen:CA16612991	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1572G>A (p.Trp524Ter)	472	ATM	Pathogenic	-1	RCV003112225\|RCV003294624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121764	108121764	NC_000011.9:g.108121764G>A	-
NM_000051.4(ATM):c.1573A>T (p.Lys525Ter)	472	ATM	Pathogenic	1565383766	RCV000694520\|RCV001683630\|RCV002388257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121765	108121765	NC_000011.9:g.108121765A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1575G>C (p.Lys525Asn)	472	ATM	Uncertain significance	587780613	RCV000122820\|RCV002399491;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121767	108121767	NC_000011.9:g.108121767G>C	ClinGen:CA332315	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1575G>A (p.Lys525=)	472	ATM	Likely benign	587780613	RCV000584102\|RCV001436925;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121767	108121767	11:g.108121767G>A	ClinGen:CA6264828	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1577T>C (p.Leu526Ser)	472	ATM	Uncertain significance	2080119755	RCV001342698;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121769	108121769	108121769	-
NM_000051.4(ATM):c.1579T>C (p.Phe527Leu)	472	ATM	Uncertain significance	864622262	RCV000204235\|RCV001012275\|RCV003223622;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108121771	108121771	NC_000011.9:g.108121771T>C	ClinGen:CA348481	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1581T>C (p.Phe527=)	472	ATM	Likely benign	1555071227	RCV000570089\|RCV001437838;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121773	108121773	NC_000011.9:g.108121773T>C	ClinGen:CA476744919	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1582A>G (p.Thr528Ala)	472	ATM	Uncertain significance	876658647	RCV000220780\|RCV001318667;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121774	108121774	11:g.108121774A>G	ClinGen:CA10579015	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1584T>C (p.Thr528=)	472	ATM	Conflicting interpretations of pathogenicity	864622408	RCV001012289\|RCV001465734;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121776	108121776	11:g.108121776T>C	ClinGen:CA348353	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1585G>C (p.Gly529Arg)	472	ATM	Uncertain significance	1325651820	RCV001241024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121777	108121777	11:g.108121777G>C	-
NM_000051.4(ATM):c.1586G>A (p.Gly529Glu)	472	ATM	Uncertain significance	1555071242	RCV000628159\|RCV003278954;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121778	108121778	11:g.108121778G>A	ClinGen:CA382534416	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1587G>A (p.Gly529=)	472	ATM	Likely benign	1060504276	RCV001463028\|RCV002402334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121779	108121779	NC_000011.9:g.108121779G>A	ClinGen:CA16613325	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1589C>T (p.Ser530Leu)	472	ATM	Uncertain significance	2080120731	RCV001218667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121781	108121781	11:g.108121781C>T	-
NM_000051.4(ATM):c.1590A>G (p.Ser530=)	472	ATM	Likely benign	2135327907	RCV002206212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121782	108121782	108121782	-
NM_000051.4(ATM):c.1591G>C (p.Ala531Pro)	472	ATM	Uncertain significance	876660941	RCV000221790\|RCV001854725;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121783	108121783	11:g.108121783G>C	ClinGen:CA10579016	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1591G>T (p.Ala531Ser)	472	ATM	Uncertain significance	876660941	RCV001339040;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121783	108121783	108121783	-
NM_000051.4(ATM):c.1592C>T (p.Ala531Val)	472	ATM	Uncertain significance	1591524927	RCV001012332\|RCV001827179;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121784	108121784	11:g.108121784C>T	-
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr)	472	ATM	Conflicting interpretations of pathogenicity	35963548	RCV000120116\|RCV000122821\|RCV000129230\|RCV000515290\|RCV000589072\|RCV001355212\|RCV001798377\|RCV001843478\|RCV002243780;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108121787	108121787	11:g.108121787G>A	ClinGen:CA157062	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1597_1600dup (p.Pro534fs)	472	ATM	Pathogenic	1131691166	RCV000494205\|RCV000628139;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121787	108121788	NC_000011.9:g.108121789_108121792dup	ClinGen:CA645369496	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1596C>T (p.Cys532=)	472	ATM	Likely benign	564050785	RCV000164738\|RCV000555097\|RCV000600936;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108121788	108121788	11:g.108121788C>T	ClinGen:CA191669	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1598G>T (p.Arg533Ile)	472	ATM	Uncertain significance	2080121541	RCV001207228;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121790	108121790	11:g.108121790G>T	-
NM_000051.4(ATM):c.1601C>G (p.Pro534Arg)	472	ATM	Uncertain significance	587782212	RCV000130890\|RCV001070274\|RCV001535697;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0007254,MedGen:C0006142	11	108121793	108121793	11:g.108121793C>G	ClinGen:CA167321	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1601C>T (p.Pro534Leu)	472	ATM	Uncertain significance	587782212	RCV000690820\|RCV001012377;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121793	108121793	NC_000011.9:g.108121793C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1602T>C (p.Pro534=)	472	ATM	Likely benign	1555071275	RCV000584573\|RCV000983720;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121794	108121794	NC_000011.9:g.108121794T>C	ClinGen:CA476744950	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1605A>G (p.Ser535=)	472	ATM	Likely benign	1060504290	RCV000466772\|RCV000580062;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121797	108121797	NC_000011.9:g.108121797A>G	ClinGen:CA16613076	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1605A>T (p.Ser535=)	472	ATM	Likely benign	1060504290	RCV001498433;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121797	108121797	11:g.108121797A>T	-
NM_000051.4(ATM):c.1606T>C (p.Cys536Arg)	472	ATM	Uncertain significance	2135328461	RCV001365158\|RCV002404870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121798	108121798	108121798	-
NM_000051.4(ATM):c.1607G>T (p.Cys536Phe)	472	ATM	Uncertain significance	769788188	RCV001055216;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121799	108121799	11:g.108121799G>T	-
NM_000051.4(ATM):c.1607+1G>T	472	ATM	Pathogenic	772926890	RCV000203930\|RCV000235749\|RCV000563715\|RCV002221512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121800	108121800	NC_000011.9:g.108121800G>T	ClinGen:CA348209	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1607+1G>A	472	ATM	Pathogenic/Likely pathogenic	772926890	RCV001046283\|RCV001182864\|RCV001539880\|RCV003467746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108121800	108121800	11:g.108121800G>A	-
NM_000051.4(ATM):c.1607+2dup	472	ATM	Uncertain significance	2135328592	RCV001359129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121800	108121801	108121800	-
NM_000051.4(ATM):c.1607+3A>G	472	ATM	Uncertain significance	2080122454	RCV001304951\|RCV003294230;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108121802	108121802	108121802	-
NM_000051.4(ATM):c.1607+4A>G	472	ATM	Uncertain significance	-1	RCV002829050;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121803	108121803	NC_000011.9:g.108121803A>G	-
NM_000051.4(ATM):c.1607+5G>A	472	ATM	Uncertain significance	766535949	RCV000777657\|RCV000820970;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121804	108121804	NC_000011.9:g.108121804G>A	-
NM_000051.4(ATM):c.1607+7T>C	472	ATM	Likely benign	2135328716	RCV002196318;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121806	108121806	108121806	-
NM_000051.4(ATM):c.1607+8C>T	472	ATM	Likely benign	2135328749	RCV001423610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121807	108121807	108121807	-
NM_000051.4(ATM):c.1607+9A>T	472	ATM	Likely benign	1028538482	RCV001500866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121808	108121808	108121808	-
NM_000051.4(ATM):c.1607+10G>A	472	ATM	Likely benign	1555071298	RCV001460639;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121809	108121809	108121809	-
NM_000051.4(ATM):c.1607+10_1607+11delinsTT	472	ATM	Uncertain significance	-1	RCV003048405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121809	108121810	NC_000011.9:g.108121809_108121810delinsTT	-
NM_000051.4(ATM):c.1607+11C>A	472	ATM	Likely benign	955225694	RCV002130432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121810	108121810	108121810	-
NM_000051.4(ATM):c.1607+11C>T	472	ATM	Likely benign	-1	RCV002654285;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121810	108121810	NC_000011.9:g.108121810C>T	-
NM_000051.4(ATM):c.1607+12A>G	472	ATM	Likely benign	-1	RCV002765899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121811	108121811	NC_000011.9:g.108121811A>G	-
NM_000051.4(ATM):c.1607+13T>C	472	ATM	Likely benign	1057522249	RCV000441546\|RCV002059026;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121812	108121812	11:g.108121812T>C	ClinGen:CA16606027	CN169374 not specified;
NM_000051.4(ATM):c.1607+16A>G	472	ATM	Likely benign	1057522219	RCV000440783\|RCV001184728\|RCV002059016;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121815	108121815	11:g.108121815A>G	ClinGen:CA16606152	CN169374 not specified;
NM_000051.4(ATM):c.1607+18del	472	ATM	Likely benign	1259647838	RCV000774987\|RCV002067309;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121816	108121816	NC_000011.9:g.108121817del	-
NM_000051.4(ATM):c.1607+20T>C	472	ATM	Likely benign	1555071308	RCV000584496\|RCV002060576;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121819	108121819	NC_000011.9:g.108121819T>C	ClinGen:CA658683711	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1607+21_1607+29del	472	ATM	Likely benign	-1	RCV002862509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108121819	108121827	NC_000011.9:g.108121820_108121828del	-
NM_000051.4(ATM):c.1608-20T>C	472	ATM	Likely benign	-1	RCV002653226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122544	108122544	NC_000011.9:g.108122544T>C	-
NM_000051.4(ATM):c.1608-19G>T	472	ATM	Benign/Likely benign	773158102	RCV000582360\|RCV000608206\|RCV002060577;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122545	108122545	NC_000011.9:g.108122545G>T	ClinGen:CA6264849	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1608-16C>G	472	ATM	Likely benign	2080161173	RCV002160233;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122548	108122548	108122548	-
NM_000051.4(ATM):c.1608-8del	472	ATM	Conflicting interpretations of pathogenicity	1064794419	RCV000482801\|RCV001524470\|RCV002056765;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122553	108122553	11:g.108122553_108122553del	ClinGen:CA16619120	CN169374 not specified;
NM_000051.4(ATM):c.1608-8T>C	472	ATM	Likely benign	201110707	RCV000777658\|RCV000920943\|RCV001194268;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108122556	108122556	NC_000011.9:g.108122556T>C	-
NM_000051.4(ATM):c.1608-7G>T	472	ATM	Likely benign	1555071656	RCV002139202;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122557	108122557	108122557	-
NM_000051.4(ATM):c.1608-6T>C	472	ATM	Uncertain significance	-1	RCV002824188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122558	108122558	NC_000011.9:g.108122558T>C	-
NM_000051.4(ATM):c.1608-5T>C	472	ATM	Uncertain significance	-1	RCV003027487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122559	108122559	NC_000011.9:g.108122559T>C	-
NM_000051.4(ATM):c.1608-4A>G	472	ATM	Likely benign	2080162473	RCV001191663\|RCV002069162;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122560	108122560	11:g.108122560A>G	-
NM_000051.4(ATM):c.1608-3T>C	472	ATM	Conflicting interpretations of pathogenicity	774196176	RCV000220922\|RCV000538430\|RCV001705209\|RCV001804954;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108122561	108122561	11:g.108122561T>C	ClinGen:CA6264852	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1608-2A>C	472	ATM	Likely pathogenic	2135338498	RCV002026026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122562	108122562	108122562	-
NM_000051.4(ATM):c.1608-1G>A	472	ATM	Likely pathogenic	1565385010	RCV000689845\|RCV001012403\|RCV003163137;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108122563	108122563	NC_000011.9:g.108122563G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1608-1G>C	472	ATM	Likely pathogenic	1565385010	RCV000691053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122563	108122563	NC_000011.9:g.108122563G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1608T>C (p.Cys536=)	472	ATM	Uncertain significance	2080162888	RCV001307230;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122564	108122564	108122564	-
NM_000051.4(ATM):c.1608T>A (p.Cys536Ter)	472	ATM	Pathogenic	-1	RCV002856791;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122564	108122564	NC_000011.9:g.108122564T>A	-
NM_000051.4(ATM):c.1610C>A (p.Pro537His)	472	ATM	Uncertain significance	587782463	RCV000131553\|RCV000199222\|RCV001804853;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108122566	108122566	11:g.108122566C>A	ClinGen:CA168348	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1610C>T (p.Pro537Leu)	472	ATM	Uncertain significance	587782463	RCV001071042;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122566	108122566	11:g.108122566C>T	-
NM_000051.4(ATM):c.1610C>G (p.Pro537Arg)	472	ATM	Uncertain significance	587782463	RCV001925276;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122566	108122566	108122566	-
NM_000051.4(ATM):c.1611T>C (p.Pro537=)	472	ATM	Likely benign	2135338657	RCV002148046;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122567	108122567	108122567	-
NM_000051.4(ATM):c.1612G>C (p.Ala538Pro)	472	ATM	Uncertain significance	2080163261	RCV001058166\|RCV002402422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122568	108122568	11:g.108122568G>C	-
NM_000051.4(ATM):c.1612_1613delinsTT (p.Ala538Leu)	472	ATM	Uncertain significance	2080163350	RCV001180394\|RCV001875986;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122568	108122569	NC_000011.9:g.108122568_108122569delinsTT	-
NM_000051.4(ATM):c.1613C>T (p.Ala538Val)	472	ATM	Uncertain significance	1565385040	RCV000692715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122569	108122569	NC_000011.9:g.108122569C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1614A>G (p.Ala538=)	472	ATM	Likely benign	876659636	RCV000220581\|RCV000688638;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122570	108122570	11:g.108122570A>G	ClinGen:CA10579017	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1614_1645del (p.Val539fs)	472	ATM	Pathogenic	2135338847	RCV001387079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122570	108122601	108122569	-
NM_000051.4(ATM):c.1617dup (p.Cys540fs)	472	ATM	Likely pathogenic	-1	RCV003234832;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122572	108122573		-
NM_000051.4(ATM):c.1617A>G (p.Val539=)	472	ATM	Likely benign	1060504300	RCV000476831\|RCV001177306\|RCV001415237;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122573	108122573	NC_000011.9:g.108122573A>G	ClinGen:CA16613328	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1620C>T (p.Cys540=)	472	ATM	Likely benign	1555071676	RCV000566968\|RCV001457187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122576	108122576	NC_000011.9:g.108122576C>T	ClinGen:CA476672030	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1621T>C (p.Cys541Arg)	472	ATM	Uncertain significance	2080164132	RCV001216345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122577	108122577	11:g.108122577T>C	-
NM_000051.4(ATM):c.1622G>C (p.Cys541Ser)	472	ATM	Uncertain significance	1555071682	RCV000555304\|RCV001525113\|RCV001770400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108122578	108122578	NC_000011.9:g.108122578G>C	ClinGen:CA382534498	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1622G>A (p.Cys541Tyr)	472	ATM	Uncertain significance	1555071682	RCV001012446\|RCV001860710\|RCV003467602;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122578	108122578	11:g.108122578G>A	-
NM_000051.4(ATM):c.1625del (p.Cys541_Leu542insTer)	472	ATM	Pathogenic	2080164484	RCV001390313\|RCV002404907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122579	108122579	108122578	-
NM_000051.4(ATM):c.1624T>G (p.Leu542Val)	472	ATM	Uncertain significance	587781366	RCV000129168\|RCV000211965\|RCV000694975\|RCV003313040;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C5669877	11	108122580	108122580	11:g.108122580T>G	ClinGen:CA293991	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1625T>G (p.Leu542Trp)	472	ATM	Uncertain significance	-1	RCV003037428;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122581	108122581	NC_000011.9:g.108122581T>G	-
NM_000051.4(ATM):c.1628C>T (p.Thr543Ile)	472	ATM	Uncertain significance	772874616	RCV000221670\|RCV000706107;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122584	108122584	11:g.108122584C>T	ClinGen:CA10579018	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1629T>G (p.Thr543=)	472	ATM	Benign/Likely benign	760285673	RCV000163170\|RCV000232728\|RCV001582640\|RCV001668321;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108122585	108122585	11:g.108122585T>G	ClinGen:CA187640	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1631T>C (p.Leu544Ser)	472	ATM	Uncertain significance	375754332	RCV000164434\|RCV000531488\|RCV000588135\|RCV001797649\|RCV003462135;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122587	108122587	11:g.108122587T>C	ClinGen:CA190939	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1633G>A (p.Ala545Thr)	472	ATM	Uncertain significance	1565385130	RCV000691757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122589	108122589	NC_000011.9:g.108122589G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1633G>C (p.Ala545Pro)	472	ATM	Uncertain significance	1565385130	RCV001308765;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122589	108122589	108122589	-
NM_000051.4(ATM):c.1634C>T (p.Ala545Val)	472	ATM	Uncertain significance	878853485	RCV000227629\|RCV001012386\|RCV001589166\|RCV003469121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122590	108122590	11:g.108122590C>T	ClinGen:CA10582795	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1635dup (p.Leu546fs)	472	ATM	Pathogenic	2135339476	RCV001381973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122590	108122591	108122590	-
NM_000051.4(ATM):c.1635A>G (p.Ala545=)	472	ATM	Likely benign	1555071712	RCV002203760\|RCV002400391;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122591	108122591	108122591	-
NM_000051.4(ATM):c.1636C>G (p.Leu546Val)	472	ATM	Benign/Likely benign	2227924	RCV000120117\|RCV000128892\|RCV000205062\|RCV000224104\|RCV002225356\|RCV003149818\|RCV002492416\|RCV003315722;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN221562\|MONDO:MONDO:00088	11	108122592	108122592	11:g.108122592C>G	ClinGen:CA157065,UniProtKB:Q13315#VAR_041554	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1636C>T (p.Leu546=)	472	ATM	Likely benign	2227924	RCV001469356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122592	108122592	108122592	-
NM_000051.4(ATM):c.1637T>C (p.Leu546Pro)	472	ATM	Uncertain significance	1565385177	RCV000703768;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122593	108122593	11:g.108122593T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1638G>A (p.Leu546=)	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002403496\|RCV003100765;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122594	108122594		-
NM_000051.4(ATM):c.1640C>T (p.Thr547Ile)	472	ATM	Uncertain significance	786203572	RCV000166950\|RCV000801758;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122596	108122596	11:g.108122596C>T	ClinGen:CA197118	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1641C>A (p.Thr547=)	472	ATM	Benign/Likely benign	864622141	RCV000203762\|RCV000219206\|RCV001711979;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108122597	108122597	NC_000011.9:g.108122597C>A	ClinGen:CA348049	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1642A>G (p.Thr548Ala)	472	ATM	Uncertain significance	878853486	RCV000230533\|RCV000575956\|RCV001174987\|RCV001770186\|RCV001798728;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MedGen:CN221562	11	108122598	108122598	11:g.108122598A>G	ClinGen:CA10582796	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1646G>A (p.Ser549Asn)	472	ATM	Uncertain significance	2080166953	RCV001217545\|RCV002393513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122602	108122602	11:g.108122602G>A	-
NM_000051.4(ATM):c.1646G>C (p.Ser549Thr)	472	ATM	Uncertain significance	-1	RCV002775260;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122602	108122602	NC_000011.9:g.108122602G>C	-
NM_000051.4(ATM):c.1648A>G (p.Ile550Val)	472	ATM	Conflicting interpretations of pathogenicity	202144949	RCV000165266\|RCV000470788\|RCV001356838\|RCV001721071\|RCV002288745;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122604	108122604	11:g.108122604A>G	ClinGen:CA192929	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1649T>G (p.Ile550Arg)	472	ATM	Uncertain significance	864622285	RCV000203732\|RCV000575790;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122605	108122605	NC_000011.9:g.108122605T>G	ClinGen:CA348029	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1649T>C (p.Ile550Thr)	472	ATM	Uncertain significance	864622285	RCV002011749;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122605	108122605	108122605	-
NM_000051.4(ATM):c.1650A>G (p.Ile550Met)	472	ATM	Uncertain significance	1060501606	RCV000461507\|RCV001192090\|RCV001753882;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108122606	108122606	NC_000011.9:g.108122606A>G	ClinGen:CA16612992	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1651G>T (p.Val551Phe)	472	ATM	Uncertain significance	1555071742	RCV000589833\|RCV001012576\|RCV001853968\|RCV003459451;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122607	108122607	11:g.108122607G>T	ClinGen:CA382534551	CN517202 not provided;
NM_000051.4(ATM):c.1651G>A (p.Val551Ile)	472	ATM	Uncertain significance	1555071742	RCV001373393;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122607	108122607	108122607	-
NM_000051.4(ATM):c.1653del (p.Pro552fs)	472	ATM	Pathogenic	2080167483	RCV001059026\|RCV003316826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122608	108122608	11:g.108122608_108122608del	-
NM_000051.4(ATM):c.1655del (p.Pro552fs)	472	ATM	Pathogenic/Likely pathogenic	1057516876	RCV000411653\|RCV001176294;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122610	108122610	11:g.108122610_108122610del	ClinGen:CA16041384	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1655C>G (p.Pro552Arg)	472	ATM	Uncertain significance	2135340121	RCV001872756\|RCV002266045;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108122611	108122611	108122611	-
NM_000051.4(ATM):c.1656A>G (p.Pro552=)	472	ATM	Likely benign	1060504275	RCV000571915\|RCV001478559\|RCV003392295;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108122612	108122612	NC_000011.9:g.108122612A>G	ClinGen:CA16612994	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1658G>A (p.Gly553Glu)	472	ATM	Uncertain significance	-1	RCV002800297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122614	108122614	NC_000011.9:g.108122614G>A	-
NM_000051.4(ATM):c.1660del (p.Thr554fs)	472	ATM	Pathogenic	876658572	RCV000221324\|RCV000802447\|RCV003469002;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122615	108122615	NC_000011.9:g.108122616del	ClinGen:CA10579019	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1660A>C (p.Thr554Pro)	472	ATM	Uncertain significance	1060788	RCV001923610\|RCV002397918;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122616	108122616	108122616	-
NM_000051.4(ATM):c.1661C>T (p.Thr554Met)	472	ATM	Uncertain significance	1060501694	RCV000458148\|RCV000484925\|RCV000561104\|RCV002291630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122617	108122617	NC_000011.9:g.108122617C>T	ClinGen:CA16612997	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1661C>A (p.Thr554Lys)	472	ATM	Uncertain significance	1060501694	RCV001060261;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122617	108122617	11:g.108122617C>A	-
NM_000051.4(ATM):c.1662G>A (p.Thr554=)	472	ATM	Likely benign	764646531	RCV000220443\|RCV000468307\|RCV001705229;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108122618	108122618	11:g.108122618G>A	ClinGen:CA6264854	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1662G>C (p.Thr554=)	472	ATM	Likely benign	764646531	RCV000565276\|RCV002060421;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122618	108122618	NC_000011.9:g.108122618G>C	ClinGen:CA476672087	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1663G>T (p.Val555Leu)	472	ATM	Uncertain significance	2080168708	RCV001225815;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122619	108122619	11:g.108122619G>T	-
NM_000051.4(ATM):c.1668_2466+1284del	472	ATM	Likely pathogenic	-1	RCV001045363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122622	108131084	11:g.108122622_108122720del	-
NM_000051.4(ATM):c.1666A>G (p.Lys556Glu)	472	ATM	Uncertain significance	-1	RCV002582319;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122622	108122622	NC_000011.9:g.108122622A>G	-
NM_000051.4(ATM):c.1669A>G (p.Met557Val)	472	ATM	Uncertain significance	1427517965	RCV000694931\|RCV001191932\|RCV001766498;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108122625	108122625	11:g.108122625A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1670T>C (p.Met557Thr)	472	ATM	Conflicting interpretations of pathogenicity	786202770	RCV000165751\|RCV000486174\|RCV000556946;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122626	108122626	11:g.108122626T>C	ClinGen:CA194138	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1670T>G (p.Met557Arg)	472	ATM	Uncertain significance	786202770	RCV000771695\|RCV000816223\|RCV001251300\|RCV001766599;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108122626	108122626	NC_000011.9:g.108122626T>G	-
NM_000051.4(ATM):c.1671G>A (p.Met557Ile)	472	ATM	Uncertain significance	730881341	RCV000159684\|RCV000219319\|RCV000532840;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122627	108122627	NC_000011.9:g.108122627G>A	ClinGen:CA298141	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1673G>C (p.Gly558Ala)	472	ATM	Uncertain significance	1064795257	RCV000562805\|RCV001853755;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122629	108122629	11:g.108122629G>C	ClinGen:CA382535131	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1673G>A (p.Gly558Glu)	472	ATM	Uncertain significance	-1	RCV002405909\|RCV003097095;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122629	108122629	108122629	-
NM_000051.4(ATM):c.1675A>G (p.Ile559Val)	472	ATM	Uncertain significance	1060501545	RCV000469013\|RCV000776544\|RCV001798833;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562	11	108122631	108122631	NC_000011.9:g.108122631A>G	ClinGen:CA16613332	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1677A>G (p.Ile559Met)	472	ATM	Conflicting interpretations of pathogenicity	1190611996	RCV001191463\|RCV001219750;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122633	108122633	11:g.108122633A>G	-
NM_000051.4(ATM):c.1679A>G (p.Glu560Gly)	472	ATM	Uncertain significance	762476611	RCV001910004;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122635	108122635	108122635	-
NM_000051.4(ATM):c.1680G>A (p.Glu560=)	472	ATM	Likely benign	1555071815	RCV000582147\|RCV001456116;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122636	108122636	11:g.108122636G>A	ClinGen:CA476672111	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1681C>G (p.Gln561Glu)	472	ATM	Uncertain significance	2080170537	RCV001350200;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122637	108122637	108122637	-
NM_000051.4(ATM):c.1685A>G (p.Asn562Ser)	472	ATM	Uncertain significance	368209025	RCV000131441\|RCV000233331\|RCV000235239;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108122641	108122641	11:g.108122641A>G	ClinGen:CA168162	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1685A>C (p.Asn562Thr)	472	ATM	Uncertain significance	368209025	RCV000811975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122641	108122641	11:g.108122641A>C	-
NM_000051.4(ATM):c.1685A>T (p.Asn562Ile)	472	ATM	Uncertain significance	368209025	RCV001012725\|RCV001051014;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122641	108122641	11:g.108122641A>T	-
NM_000051.4(ATM):c.1688T>G (p.Met563Arg)	472	ATM	Uncertain significance	750815208	RCV000205789\|RCV000575377\|RCV002265684\|RCV002286716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108122644	108122644	11:g.108122644T>G	ClinGen:CA349901	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1692_1693del (p.Cys564_Glu565delinsTer)	472	ATM	Pathogenic	2080171293	RCV001052694;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122644	108122645	11:g.108122644_108122645del	-
NM_000051.4(ATM):c.1689G>A (p.Met563Ile)	472	ATM	Conflicting interpretations of pathogenicity	786202469	RCV000165292\|RCV000466714;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122645	108122645	11:g.108122645G>A	ClinGen:CA192994	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1689G>T (p.Met563Ile)	472	ATM	Conflicting interpretations of pathogenicity	786202469	RCV001071406\|RCV002402486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122645	108122645	11:g.108122645G>T	-
NM_000051.4(ATM):c.1689G>C (p.Met563Ile)	472	ATM	Conflicting interpretations of pathogenicity	786202469	RCV001526962\|RCV002414249\|RCV002568855;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122645	108122645	108122645	-
NM_000051.4(ATM):c.1692T>A (p.Cys564Ter)	472	ATM	Pathogenic/Likely pathogenic	886039644	RCV000255429\|RCV001383509\|RCV003298329;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122648	108122648	11:g.108122648T>A	ClinGen:CA10588490	CN517202 not provided;
NM_000051.4(ATM):c.1693G>A (p.Glu565Lys)	472	ATM	Uncertain significance	2080171822	RCV001235141\|RCV003353241;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122649	108122649	11:g.108122649G>A	-
NM_000051.4(ATM):c.1695del (p.Glu565_Val566insTer)	472	ATM	Pathogenic	2135341489	RCV001388014;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122650	108122650	108122649	-
NM_000051.4(ATM):c.1695A>G (p.Glu565=)	472	ATM	Conflicting interpretations of pathogenicity	780932013	RCV000472970\|RCV000483767\|RCV000563909\|RCV000779760\|RCV003470443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122651	108122651	NC_000011.9:g.108122651A>G	ClinGen:CA6264858	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1696G>A (p.Val566Ile)	472	ATM	Uncertain significance	-1	RCV002406232\|RCV003097129;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122652	108122652	108122652	-
NM_000051.4(ATM):c.1697T>C (p.Val566Ala)	472	ATM	Uncertain significance	2080172143	RCV001320890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122653	108122653	108122653	-
NM_000051.4(ATM):c.1698A>G (p.Val566=)	472	ATM	Likely benign	2135341613	RCV001401807\|RCV002404937;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122654	108122654	108122654	-
NM_000051.4(ATM):c.1699A>T (p.Asn567Tyr)	472	ATM	Uncertain significance	2135341638	RCV001920244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122655	108122655	108122655	-
NM_000051.4(ATM):c.1700A>G (p.Asn567Ser)	472	ATM	Conflicting interpretations of pathogenicity	786203230	RCV000166452\|RCV000235690\|RCV001071389;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122656	108122656	11:g.108122656A>G	ClinGen:CA195908	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1701T>C (p.Asn567=)	472	ATM	Likely benign	878853487	RCV000226956\|RCV000440918\|RCV002408945;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122657	108122657	NC_000011.9:g.108122657T>C	ClinGen:CA10582797	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1702A>G (p.Arg568Gly)	472	ATM	Uncertain significance	876659425	RCV000213694\|RCV000821518\|RCV003407752\|RCV003462480;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122658	108122658	11:g.108122658A>G	ClinGen:CA10579021	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1702A>T (p.Arg568Ter)	472	ATM	Pathogenic	876659425	RCV001384132;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122658	108122658	108122658	-
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile)	472	ATM	Conflicting interpretations of pathogenicity	200381392	RCV000129176\|RCV000195658\|RCV000416037\|RCV000515396\|RCV000855571\|RCV001357003;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108122659	108122659	11:g.108122659G>T	ClinGen:CA294000	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1703G>A (p.Arg568Lys)	472	ATM	Uncertain significance	200381392	RCV000131429\|RCV000230854\|RCV000679099\|RCV003462014;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122659	108122659	11:g.108122659G>A	ClinGen:CA168134	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1704A>C (p.Arg568Ser)	472	ATM	Uncertain significance	878853488	RCV000233795\|RCV000573317\|RCV002487045;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122660	108122660	11:g.108122660A>C	ClinGen:CA10582798	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1705A>T (p.Ser569Cys)	472	ATM	Uncertain significance	-1	RCV002303228\|RCV002400425;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122661	108122661	108122661	-
NM_000051.4(ATM):c.1707C>T (p.Ser569=)	472	ATM	Likely benign	1381837075	RCV000581492\|RCV000919622;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122663	108122663	11:g.108122663C>T	ClinGen:CA476672136	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser)	472	ATM	Uncertain significance	777301065	RCV000819005\|RCV003166380\|RCV003321750;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108122665	108122665	11:g.108122665T>C	-
NM_000051.4(ATM):c.1714T>A (p.Leu572Ile)	472	ATM	Uncertain significance	749216212	RCV001012820\|RCV001068248;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122670	108122670	11:g.108122670T>A	-
NM_000051.4(ATM):c.1719G>A (p.Lys573=)	472	ATM	Likely benign	-1	RCV002867575;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122675	108122675		-
NM_000051.4(ATM):c.1720G>C (p.Glu574Gln)	472	ATM	Uncertain significance	770911276	RCV000819158\|RCV001012846;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122676	108122676	11:g.108122676G>C	-
NM_000051.4(ATM):c.1721A>C (p.Glu574Ala)	472	ATM	Uncertain significance	1565385690	RCV000705414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122677	108122677	NC_000011.9:g.108122677A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1722A>G (p.Glu574=)	472	ATM	Likely benign	372334891	RCV000220313\|RCV000464066;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122678	108122678	11:g.108122678A>G	ClinGen:CA10579022	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1722A>C (p.Glu574Asp)	472	ATM	Uncertain significance	372334891	RCV000545460\|RCV000565682;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122678	108122678	NC_000011.9:g.108122678A>C	ClinGen:CA382535284	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1723T>A (p.Ser575Thr)	472	ATM	Uncertain significance	1565385720	RCV000696274\|RCV000773692\|RCV001193636;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108122679	108122679	11:g.108122679T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1724C>A (p.Ser575Ter)	472	ATM	Pathogenic	2135342200	RCV001951097\|RCV003303500;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122680	108122680	108122680	-
NM_000051.4(ATM):c.1726A>G (p.Ile576Val)	472	ATM	Uncertain significance	1064795170	RCV000486868\|RCV000582520\|RCV000690771\|RCV001357344;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517	11	108122682	108122682	11:g.108122682A>G	ClinGen:CA16619124	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr)	472	ATM	Uncertain significance	730881342	RCV000159685\|RCV000196810\|RCV000590025\|RCV003230420\|RCV003462071;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122683	108122683	NC_000011.9:g.108122683T>C	ClinGen:CA298144	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1729A>C (p.Met577Leu)	472	ATM	Uncertain significance	1555071919	RCV001202186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122685	108122685	11:g.108122685A>C	-
NM_000051.4(ATM):c.1730T>G (p.Met577Arg)	472	ATM	Uncertain significance	-1	RCV002407420\|RCV003097189;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122686	108122686	108122686	-
NM_000051.4(ATM):c.1732A>C (p.Lys578Gln)	472	ATM	Uncertain significance	1555071926	RCV000569049\|RCV001858071;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122688	108122688	11:g.108122688A>C	ClinGen:CA382535306	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1732A>G (p.Lys578Glu)	472	ATM	Uncertain significance	-1	RCV002657744;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122688	108122688	NC_000011.9:g.108122688A>G	-
NM_000051.4(ATM):c.1733A>G (p.Lys578Arg)	472	ATM	Conflicting interpretations of pathogenicity	1266358260	RCV000799852\|RCV002397605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122689	108122689	11:g.108122689A>G	-
NM_000051.4(ATM):c.1734A>G (p.Lys578=)	472	ATM	Likely benign	1555071939	RCV000568846\|RCV000931886;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122690	108122690	NC_000011.9:g.108122690A>G	ClinGen:CA476672157	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1737G>A (p.Trp579Ter)	472	ATM	Pathogenic	786201689	RCV000164097\|RCV001215174;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122693	108122693	11:g.108122693G>A	ClinGen:CA190035	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1740_1741del (p.Leu581fs)	472	ATM	Pathogenic	1131691151	RCV000494071\|RCV001204112;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122694	108122695	NC_000011.9:g.108122694CT[1]	ClinGen:CA645369497	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1738C>T (p.Leu580Phe)	472	ATM	Uncertain significance	1555071952	RCV000580389\|RCV001059246\|RCV003235299;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108122694	108122694	NC_000011.9:g.108122694C>T	ClinGen:CA382535324	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1739T>C (p.Leu580Pro)	472	ATM	Uncertain significance	890554688	RCV000706468;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122695	108122695	NC_000011.9:g.108122695T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1739T>A (p.Leu580His)	472	ATM	Uncertain significance	890554688	RCV001317884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122695	108122695	108122695	-
NM_000051.4(ATM):c.1740C>T (p.Leu580=)	472	ATM	Likely benign	1060504269	RCV000775801\|RCV001443908;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122696	108122696	NC_000011.9:g.108122696C>T	ClinGen:CA16613004	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1740C>G (p.Leu580=)	472	ATM	Likely benign	1060504269	RCV001012914\|RCV001424073;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122696	108122696	11:g.108122696C>G	-
NM_000051.4(ATM):c.1741T>G (p.Leu581Val)	472	ATM	Uncertain significance	876659822	RCV000219147\|RCV000484735\|RCV000627927\|RCV001030519\|RCV001174637;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108122697	108122697	11:g.108122697T>G	ClinGen:CA10579023	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1741_1742del (p.Leu581fs)	472	ATM	Pathogenic/Likely pathogenic	1057516721	RCV000411456\|RCV003470333;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122697	108122698	NC_000011.9:g.108122697_108122698del	ClinGen:CA16041385	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1745_1749del (p.Phe582fs)	472	ATM	Pathogenic	1565385883	RCV000709167;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122698	108122702	NC_000011.9:g.108122701_108122705del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu)	472	ATM	Conflicting interpretations of pathogenicity	2235006	RCV000115146\|RCV000120118\|RCV000122822\|RCV000588398\|RCV001269378\|RCV001798308\|RCV003315634;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108122700	108122700	NC_000011.9:g.108122700T>C	ClinGen:CA151457,UniProtKB:Q13315#VAR_041555	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1745T>G (p.Phe582Cys)	472	ATM	Uncertain significance	-1	RCV002846144;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122701	108122701	NC_000011.9:g.108122701T>G	-
NM_000051.4(ATM):c.1746C>T (p.Phe582=)	472	ATM	Likely benign	145629926	RCV000467309\|RCV001177916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122702	108122702	NC_000011.9:g.108122702C>T	ClinGen:CA6264863	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1746C>G (p.Phe582Leu)	472	ATM	Benign/Likely benign	145629926	RCV000562559\|RCV001520425;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122702	108122702	NC_000011.9:g.108122702C>G	ClinGen:CA382535349	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1747T>C (p.Tyr583His)	472	ATM	Uncertain significance	2135342937	RCV001965721;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122703	108122703	108122703	-
NM_000051.4(ATM):c.1748A>C (p.Tyr583Ser)	472	ATM	Uncertain significance	587780614	RCV000122823\|RCV000777659;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122704	108122704	NC_000011.9:g.108122704A>C	ClinGen:CA332318	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys)	472	ATM	Conflicting interpretations of pathogenicity	587780614	RCV000218850\|RCV000228653\|RCV000590682\|RCV003467239;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122704	108122704	NC_000011.9:g.108122704A>G	ClinGen:CA298336	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1750C>T (p.Gln584Ter)	472	ATM	Pathogenic	2080176523	RCV001222086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122706	108122706	11:g.108122706C>T	-
NM_000051.4(ATM):c.1753_1756del (p.Leu585fs)	472	ATM	Pathogenic/Likely pathogenic	1555072008	RCV000669542\|RCV002397352\|RCV003453290;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122707	108122710	11:g.108122707_108122710del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1754dup (p.Leu585fs)	472	ATM	Pathogenic/Likely pathogenic	1555072012	RCV000668583;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122708	108122709	11:g.108122708_108122709insT	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1752G>A (p.Gln584=)	472	ATM	Likely benign	2135343108	RCV001484026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122708	108122708	108122708	-
NM_000051.4(ATM):c.1752G>C (p.Gln584His)	472	ATM	Uncertain significance	-1	RCV002967039;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122708	108122708	NC_000011.9:g.108122708G>C	-
NM_000051.4(ATM):c.1756G>C (p.Glu586Gln)	472	ATM	Uncertain significance	1565386004	RCV000686006;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122712	108122712	NC_000011.9:g.108122712G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1756G>A (p.Glu586Lys)	472	ATM	Uncertain significance	1565386004	RCV001295779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122712	108122712	108122712	-
NM_000051.4(ATM):c.1757A>T (p.Glu586Val)	472	ATM	Uncertain significance	587781907	RCV000130246\|RCV001216788;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122713	108122713	11:g.108122713A>T	ClinGen:CA166034	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1758G>A (p.Glu586=)	472	ATM	Likely benign	1555072017	RCV000606158\|RCV001481345\|RCV002413763;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122714	108122714	11:g.108122714G>A	ClinGen:CA476672178	CN169374 not specified;
NM_000051.4(ATM):c.1758G>T (p.Glu586Asp)	472	ATM	Uncertain significance	1555072017	RCV001013047\|RCV001321608\|RCV003467607;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122714	108122714	11:g.108122714G>T	-
NM_000051.4(ATM):c.1759G>A (p.Gly587Ser)	472	ATM	Uncertain significance	879254227	RCV000236838\|RCV001209163\|RCV002401926;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122715	108122715	11:g.108122715G>A	ClinGen:CA10584325	CN169374 not specified;
NM_000051.4(ATM):c.1759G>C (p.Gly587Arg)	472	ATM	Uncertain significance	879254227	RCV001359062;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122715	108122715	108122715	-
NM_000051.4(ATM):c.1760G>A (p.Gly587Asp)	472	ATM	Uncertain significance	1060501553	RCV000456432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122716	108122716	NC_000011.9:g.108122716G>A	ClinGen:CA16613009	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1760G>T (p.Gly587Val)	472	ATM	Uncertain significance	1060501553	RCV000702270\|RCV001177161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122716	108122716	11:g.108122716G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1761T>A (p.Gly587=)	472	ATM	Likely benign	-1	RCV002872345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122717	108122717		-
NM_000051.4(ATM):c.1762del (p.Asp588fs)	472	ATM	Pathogenic	2135343498	RCV001388516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122718	108122718	108122717	-
NM_000051.4(ATM):c.1763A>G (p.Asp588Gly)	472	ATM	Uncertain significance	2080177696	RCV001524806\|RCV001872051;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122719	108122719	108122719	-
NM_000051.4(ATM):c.1768G>C (p.Glu590Gln)	472	ATM	Uncertain significance	876659283	RCV000628166\|RCV001188328\|RCV003465376;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122724	108122724	NC_000011.9:g.108122724G>C	ClinGen:CA382535446	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1772dup (p.Asn591fs)	472	ATM	Pathogenic/Likely pathogenic	1591528248	RCV000818090\|RCV003141842;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122724	108122725	11:g.108122724_108122725insA	-
NM_000051.4(ATM):c.1773T>C (p.Asn591=)	472	ATM	Benign/Likely benign	61734356	RCV000123723\|RCV000196069\|RCV000211968\|RCV001085839\|RCV001798412;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108122729	108122729	NC_000011.9:g.108122729T>C	ClinGen:CA289535	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1774A>G (p.Ser592Gly)	472	ATM	Uncertain significance	1060501558	RCV000466164\|RCV002411450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122730	108122730	NC_000011.9:g.108122730A>G	ClinGen:CA16613333	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1775G>A (p.Ser592Asn)	472	ATM	Uncertain significance	776911505	RCV000537610\|RCV000562395\|RCV001292869\|RCV001534928;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108122731	108122731	NC_000011.9:g.108122731G>A	ClinGen:CA6264865	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1776C>T (p.Ser592=)	472	ATM	Likely benign	1057524304	RCV000440191\|RCV000937826;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122732	108122732	11:g.108122732C>T	ClinGen:CA16605762	CN169374 not specified;
NM_000051.4(ATM):c.1778C>T (p.Thr593Ile)	472	ATM	Uncertain significance	2135343992	RCV001962646;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122734	108122734	108122734	-
NM_000051.4(ATM):c.1778C>G (p.Thr593Arg)	472	ATM	Uncertain significance	2135343992	RCV001866475;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122734	108122734	108122734	-
NM_000051.4(ATM):c.1779A>G (p.Thr593=)	472	ATM	Likely benign	876660493	RCV000842698\|RCV001086627\|RCV002402335;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122735	108122735	NC_000011.9:g.108122735A>G	ClinGen:CA16613265	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1780G>T (p.Glu594Ter)	472	ATM	Pathogenic	2080178937	RCV001058032;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122736	108122736	11:g.108122736G>T	-
NM_000051.4(ATM):c.1782A>G (p.Glu594=)	472	ATM	Likely benign	876660494	RCV000215291\|RCV002519732;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122738	108122738	11:g.108122738A>G	ClinGen:CA10579027	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1783_1802+91del	472	ATM	Likely pathogenic	1555072063	RCV000468593\|RCV000776713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122738	108122848	NC_000011.9:g.108122739_108122849del	ClinGen:CA16613267	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1782A>T (p.Glu594Asp)	472	ATM	Uncertain significance	876660494	RCV001230400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122738	108122738	11:g.108122738A>T	-
NM_000051.4(ATM):c.1783G>A (p.Val595Met)	472	ATM	Uncertain significance	2080179332	RCV001339341;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122739	108122739	108122739	-
NM_000051.4(ATM):c.1786C>G (p.Pro596Ala)	472	ATM	Uncertain significance	-1	RCV003025272;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122742	108122742	NC_000011.9:g.108122742C>G	-
NM_000051.4(ATM):c.1789C>G (p.Pro597Ala)	472	ATM	Uncertain significance	1555072070	RCV000580706\|RCV000627936;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122745	108122745	NC_000011.9:g.108122745C>G	ClinGen:CA382535545	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1790C>T (p.Pro597Leu)	472	ATM	Uncertain significance	765847854	RCV000487059\|RCV000627957\|RCV001013168;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122746	108122746	11:g.108122746C>T	ClinGen:CA6264866	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1791A>G (p.Pro597=)	472	ATM	Likely benign	2135344323	RCV001464128;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122747	108122747	108122747	-
NM_000051.4(ATM):c.1792A>G (p.Ile598Val)	472	ATM	Uncertain significance	730881343	RCV000159686\|RCV000211969\|RCV000462248\|RCV000780876;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108122748	108122748	NC_000011.9:g.108122748A>G	ClinGen:CA298147	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1792A>C (p.Ile598Leu)	472	ATM	Uncertain significance	730881343	RCV000579560\|RCV000798427;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122748	108122748	NC_000011.9:g.108122748A>C	ClinGen:CA382535553	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1794T>C (p.Ile598=)	472	ATM	Likely benign	786201830	RCV000164318\|RCV000197476;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122750	108122750	11:g.108122750T>C	ClinGen:CA190621	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1795C>T (p.Leu599Phe)	472	ATM	Uncertain significance	1312313805	RCV000582537\|RCV000815953;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122751	108122751	11:g.108122751C>T	ClinGen:CA382535570	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1796T>C (p.Leu599Pro)	472	ATM	Uncertain significance	1555072082	RCV000550371;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122752	108122752	NC_000011.9:g.108122752T>C	ClinGen:CA382535574	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1798C>A (p.His600Asn)	472	ATM	Uncertain significance	1555072089	RCV000701110\|RCV001013213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122754	108122754	NC_000011.9:g.108122754C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1798C>T (p.His600Tyr)	472	ATM	Uncertain significance	1555072089	RCV001218030;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122754	108122754	11:g.108122754C>T	-
NM_000051.4(ATM):c.1799A>G (p.His600Arg)	472	ATM	Uncertain significance	2080180530	RCV001053996\|RCV001759993\|RCV002409449;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122755	108122755	11:g.108122755A>G	-
NM_000051.4(ATM):c.1799_1802+5del	472	ATM	Conflicting interpretations of pathogenicity	781244480	RCV001379569\|RCV002413907\|RCV003155975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108122755	108122763	108122754	-
NM_000051.4(ATM):c.1801A>G (p.Ser601Gly)	472	ATM	Uncertain significance	1591528484	RCV001013230\|RCV001827183;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122757	108122757	11:g.108122757A>G	-
NM_000051.4(ATM):c.1802G>A (p.Ser601Asn)	472	ATM	Uncertain significance	763402339	RCV001070050\|RCV002411614;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122758	108122758	11:g.108122758G>A	-
NM_000051.4(ATM):c.1802G>C (p.Ser601Thr)	472	ATM	Uncertain significance	763402339	RCV001868797\|RCV002256835\|RCV003237592;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108122758	108122758	108122758	-
NM_000051.4(ATM):c.1802+1del	472	ATM	Uncertain significance	-1	RCV003337714;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122758	108122758		-
NM_000051.4(ATM):c.1802+1G>T	472	ATM	Likely pathogenic	2135344665	RCV001379361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122759	108122759	108122759	-
NM_000051.4(ATM):c.1802+3A>G	472	ATM	Uncertain significance	1591528500	RCV000812160\|RCV002406831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122761	108122761	11:g.108122761A>G	-
NM_000051.4(ATM):c.1802+3A>T	472	ATM	Uncertain significance	1591528500	RCV001371832\|RCV002413891;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108122761	108122761	108122761	-
NM_000051.4(ATM):c.1802+3A>C	472	ATM	Uncertain significance	-1	RCV002880937;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122761	108122761	NC_000011.9:g.108122761A>C	-
NM_000051.4(ATM):c.1802+7T>G	472	ATM	Likely benign	1057521381	RCV000439910\|RCV001448277;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122765	108122765	11:g.108122765T>G	ClinGen:CA16606033	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1802+8A>G	472	ATM	Likely benign	766706104	RCV001462874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122766	108122766	108122766	-
NM_000051.4(ATM):c.1802+8A>T	472	ATM	Likely benign	766706104	RCV002169188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122766	108122766	108122766	-
NM_000051.4(ATM):c.1802+9A>G	472	ATM	Likely benign	2135344806	RCV002136476;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122767	108122767	108122767	-
NM_000051.4(ATM):c.1802+14A>G	472	ATM	Likely benign	2135344920	RCV002086491;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122772	108122772	108122772	-
NM_000051.4(ATM):c.1802+16del	472	ATM	Likely benign	1064794466	RCV000478175\|RCV000580179\|RCV002056772;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122773	108122773	NC_000011.9:g.108122774del	ClinGen:CA16619128	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1802+15T>C	472	ATM	Likely benign	2135344940	RCV002092867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122773	108122773	108122773	-
NM_000051.4(ATM):c.1802+16T>C	472	ATM	Likely benign	995327985	RCV000442697\|RCV000580723\|RCV002059019;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122774	108122774	11:g.108122774T>C	ClinGen:CA16605766	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1802+18G>A	472	ATM	Likely benign	-1	RCV003070320;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122776	108122776	NC_000011.9:g.108122776G>A	-
NM_000051.4(ATM):c.1802+20A>T	472	ATM	Likely benign	1009750697	RCV000774654\|RCV002067303;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108122778	108122778	NC_000011.9:g.108122778A>T	-
NM_000051.4(ATM):c.1803-270T>G	472	ATM	Pathogenic	-1	RCV002467474;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123274	108123274	NC_000011.9:g.108123274T>G	-
NM_000051.4(ATM):c.1803-20C>T	472	ATM	Likely benign	-1	RCV002999769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123524	108123524	NC_000011.9:g.108123524C>T	-
NM_000051.4(ATM):c.1803-18T>C	472	ATM	Likely benign	-1	RCV003065019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123526	108123526	NC_000011.9:g.108123526T>C	-
NM_000051.4(ATM):c.1803-15T>C	472	ATM	Likely benign	2080225396	RCV001181155\|RCV002558991;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123529	108123529	11:g.108123529T>C	-
NM_000051.4(ATM):c.1803-10T>C	472	ATM	Likely benign	1555072423	RCV000558504;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123534	108123534	NC_000011.9:g.108123534T>C	ClinGen:CA658656170	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1803-9T>C	472	ATM	Likely benign	2135352230	RCV001465481;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123535	108123535	108123535	-
NM_000051.4(ATM):c.1803-7T>C	472	ATM	Conflicting interpretations of pathogenicity	2135352285	RCV001450969\|RCV002243227;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108123537	108123537	108123537	-
NM_000051.4(ATM):c.1803-5T>C	472	ATM	Likely benign	786203034	RCV000166166\|RCV001447199;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123539	108123539	11:g.108123539T>C	ClinGen:CA195152	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1803-4G>A	472	ATM	Likely benign	876659300	RCV000218831\|RCV001414618;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123540	108123540	11:g.108123540G>A	ClinGen:CA10579028	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1803-2A>G	472	ATM	Likely pathogenic	1057517358	RCV000411840\|RCV001573871\|RCV002411275\|RCV003475972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123542	108123542	11:g.108123542A>G	ClinGen:CA16041386	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1804_1808dup (p.Phe603fs)	472	ATM	Pathogenic	-1	RCV002842300;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123543	108123544	NC_000011.9:g.108123545_108123549dup	-
NM_000051.4(ATM):c.1804A>G (p.Asn602Asp)	472	ATM	Uncertain significance	2080226309	RCV001035824\|RCV002409361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123545	108123545	11:g.108123545A>G	-
NM_000051.4(ATM):c.1805A>G (p.Asn602Ser)	472	ATM	Uncertain significance	1173305253	RCV000583262\|RCV000691113;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123546	108123546	11:g.108123546A>G	ClinGen:CA382535687	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1805A>C (p.Asn602Thr)	472	ATM	Uncertain significance	1173305253	RCV001322250;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123546	108123546	108123546	-
NM_000051.4(ATM):c.1808T>G (p.Phe603Cys)	472	ATM	Uncertain significance	2135352513	RCV001922226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123549	108123549	108123549	-
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser)	472	ATM	Conflicting interpretations of pathogenicity	2227922	RCV000115147\|RCV000120119\|RCV000122824\|RCV000590282\|RCV001197813\|RCV001356948\|RCV001374543\|RCV001798309;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C000	11	108123551	108123551	NC_000011.9:g.108123551C>T	ClinGen:CA157068	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1811C>T (p.Pro604Leu)	472	ATM	Uncertain significance	1565387411	RCV000703464;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123552	108123552	11:g.108123552C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1811C>G (p.Pro604Arg)	472	ATM	Uncertain significance	-1	RCV002952967;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123552	108123552	NC_000011.9:g.108123552C>G	-
NM_000051.4(ATM):c.1813C>T (p.His605Tyr)	472	ATM	Uncertain significance	786202928	RCV000165999\|RCV001850331;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123554	108123554	11:g.108123554C>T	ClinGen:CA194734	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1813C>G (p.His605Asp)	472	ATM	Uncertain significance	786202928	RCV000534547\|RCV001189377;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123554	108123554	NC_000011.9:g.108123554C>G	ClinGen:CA382535722	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1813del (p.His605fs)	472	ATM	Likely pathogenic	2135352736	RCV001553542;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123554	108123554	108123553	-
NM_000051.4(ATM):c.1814A>G (p.His605Arg)	472	ATM	Uncertain significance	771877351	RCV000236945\|RCV000628205\|RCV000779798\|RCV001013284;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123555	108123555	NC_000011.9:g.108123555A>G	ClinGen:CA6264883	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1814A>C (p.His605Pro)	472	ATM	Uncertain significance	771877351	RCV001931938;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123555	108123555	108123555	-
NM_000051.4(ATM):c.1814A>T (p.His605Leu)	472	ATM	Uncertain significance	-1	RCV002294922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123555	108123555	108123555	-
NM_000051.4(ATM):c.1817T>C (p.Leu606Pro)	472	ATM	Uncertain significance	-1	RCV003005814;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123558	108123558	NC_000011.9:g.108123558T>C	-
NM_000051.4(ATM):c.1818T>G (p.Leu606=)	472	ATM	Likely benign	2080227232	RCV002193146;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123559	108123559	108123559	-
NM_000051.4(ATM):c.1819G>A (p.Val607Ile)	472	ATM	Uncertain significance	878853489	RCV000231315\|RCV001183559;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123560	108123560	NC_000011.9:g.108123560G>A	ClinGen:CA10582799	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1819G>T (p.Val607Leu)	472	ATM	Uncertain significance	878853489	RCV001233459;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123560	108123560	11:g.108123560G>T	-
NM_000051.4(ATM):c.1821A>C (p.Val607=)	472	ATM	Likely benign	876660362	RCV001419575;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123562	108123562	108123562	-
NM_000051.4(ATM):c.1822C>T (p.Leu608=)	472	ATM	Likely benign	1591530779	RCV001013267\|RCV001439670;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123563	108123563	11:g.108123563C>T	-
NM_000051.4(ATM):c.1825G>C (p.Glu609Gln)	472	ATM	Uncertain significance	779780896	RCV000709168\|RCV002289985\|RCV002406652;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123566	108123566	NC_000011.9:g.108123566G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1825G>A (p.Glu609Lys)	472	ATM	Uncertain significance	779780896	RCV001925370\|RCV002407035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123566	108123566	108123566	-
NM_000051.4(ATM):c.1826A>T (p.Glu609Val)	472	ATM	Uncertain significance	2080227710	RCV001183161\|RCV001373844;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123567	108123567	11:g.108123567A>T	-
NM_000051.4(ATM):c.1827G>A (p.Glu609=)	472	ATM	Likely benign	1555072460	RCV000551852;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123568	108123568	NC_000011.9:g.108123568G>A	ClinGen:CA476672223	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1827G>T (p.Glu609Asp)	472	ATM	Uncertain significance	1555072460	RCV001058368;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123568	108123568	11:g.108123568G>T	-
NM_000051.4(ATM):c.1829A>G (p.Lys610Arg)	472	ATM	Uncertain significance	1555072464	RCV000527856;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123570	108123570	NC_000011.9:g.108123570A>G	ClinGen:CA382535784	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1829A>T (p.Lys610Ile)	472	ATM	Uncertain significance	-1	RCV003008351;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123570	108123570	NC_000011.9:g.108123570A>T	-
NM_000051.4(ATM):c.1830A>G (p.Lys610=)	472	ATM	Likely benign	-1	RCV002412621\|RCV003097283;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123571	108123571		-
NM_000051.4(ATM):c.1830A>C (p.Lys610Asn)	472	ATM	Uncertain significance	-1	RCV003059251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123571	108123571	NC_000011.9:g.108123571A>C	-
NM_000051.4(ATM):c.1833T>A (p.Ile611=)	472	ATM	Likely benign	2135353362	RCV001428861;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123574	108123574	108123574	-
NM_000051.4(ATM):c.1833T>C (p.Ile611=)	472	ATM	Likely benign	-1	RCV002863171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123574	108123574		-
NM_000051.4(ATM):c.1834C>T (p.Leu612Phe)	472	ATM	Uncertain significance	747242300	RCV000539435\|RCV001182000\|RCV002463718;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123575	108123575	11:g.108123575C>T	ClinGen:CA6264885	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1834C>G (p.Leu612Val)	472	ATM	Uncertain significance	747242300	RCV000565695\|RCV001221251\|RCV003148789;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108123575	108123575	NC_000011.9:g.108123575C>G	ClinGen:CA228392465	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1835T>C (p.Leu612Pro)	472	ATM	Uncertain significance	1555072474	RCV000547363\|RCV001524423\|RCV001770401;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108123576	108123576	NC_000011.9:g.108123576T>C	ClinGen:CA382535814	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1835T>A (p.Leu612His)	472	ATM	Uncertain significance	1555072474	RCV000798370\|RCV002406761;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123576	108123576	11:g.108123576T>A	-
NM_000051.4(ATM):c.1836T>A (p.Leu612=)	472	ATM	Likely benign	1309539769	RCV000562800\|RCV002060424;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123577	108123577	NC_000011.9:g.108123577T>A	ClinGen:CA476672227	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1838_1839del (p.Val613fs)	472	ATM	Pathogenic	1591530854	RCV001013310\|RCV001860736;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123577	108123578	11:g.108123577_108123578del	-
NM_000051.4(ATM):c.1837G>T (p.Val613Leu)	472	ATM	Uncertain significance	200124136	RCV000159687\|RCV000205987\|RCV000235100\|RCV001818352\|RCV003387775;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123578	108123578	NC_000011.9:g.108123578G>T	ClinGen:CA298150	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1839_1842del (p.Leu615_Thr616insTer)	472	ATM	Pathogenic	1555072480	RCV000528220;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123578	108123581	11:g.108123578_108123581del	ClinGen:CA658656174	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1838dup (p.Ser614fs)	472	ATM	Pathogenic	1555072492	RCV000628101\|RCV002413783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123578	108123579	NC_000011.9:g.108123579dup	ClinGen:CA658797791	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1837G>A (p.Val613Met)	472	ATM	Uncertain significance	200124136	RCV001524496\|RCV001872036;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123578	108123578	108123578	-
NM_000051.4(ATM):c.1838T>G (p.Val613Gly)	472	ATM	Conflicting interpretations of pathogenicity	762018538	RCV000472274\|RCV000572810\|RCV001194266\|RCV001584149\|RCV003476061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123579	108123579	NC_000011.9:g.108123579T>G	ClinGen:CA16613012	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1838del (p.Val613fs)	472	ATM	Pathogenic	2135353661	RCV001845043;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123579	108123579	108123578	-
NM_000051.4(ATM):c.1838T>C (p.Val613Ala)	472	ATM	Uncertain significance	762018538	RCV001932588;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123579	108123579	108123579	-
NM_000051.4(ATM):c.1840_1841del (p.Leu615fs)	472	ATM	Pathogenic	2135353714	RCV001943341;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123580	108123581	108123579	-
NM_000051.4(ATM):c.1839G>C (p.Val613=)	472	ATM	Likely benign	2135353682	RCV002099018;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123580	108123580	108123580	-
NM_000051.4(ATM):c.1841G>C (p.Ser614Thr)	472	ATM	Uncertain significance	770377706	RCV000477138\|RCV000482593\|RCV000566300\|RCV003463889;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123582	108123582	NC_000011.9:g.108123582G>C	ClinGen:CA6264888	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1841G>T (p.Ser614Ile)	472	ATM	Uncertain significance	770377706	RCV000819338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123582	108123582	11:g.108123582G>T	-
NM_000051.4(ATM):c.1842T>A (p.Ser614Arg)	472	ATM	Uncertain significance	1060501523	RCV000474998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123583	108123583	NC_000011.9:g.108123583T>A	ClinGen:CA16613015	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1845_1848dup (p.Met617fs)	472	ATM	Pathogenic	2080229346	RCV001045063;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123583	108123584	11:g.108123583_108123584insCTCA	-
NM_000051.4(ATM):c.1843C>G (p.Leu615Val)	472	ATM	Uncertain significance	1380546088	RCV001960232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123584	108123584	108123584	-
NM_000051.4(ATM):c.1844T>C (p.Leu615Pro)	472	ATM	Conflicting interpretations of pathogenicity	786203783	RCV000167236\|RCV000819663\|RCV003444209;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123585	108123585	11:g.108123585T>C	ClinGen:CA197807	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1844T>A (p.Leu615His)	472	ATM	Uncertain significance	-1	RCV003064141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123585	108123585	NC_000011.9:g.108123585T>A	-
NM_000051.4(ATM):c.1845C>T (p.Leu615=)	472	ATM	Likely benign	1349398596	RCV001459165;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123586	108123586	11:g.108123586C>T	-
NM_000051.4(ATM):c.1846A>G (p.Thr616Ala)	472	ATM	Uncertain significance	587780615	RCV000122825\|RCV000129264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123587	108123587	NC_000011.9:g.108123587A>G	ClinGen:CA164085	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1847_1849del (p.Thr616del)	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002412942\|RCV003100887;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123587	108123589	108123586	-
NM_000051.4(ATM):c.1847C>T (p.Thr616Ile)	472	ATM	Uncertain significance	533129312	RCV000685173\|RCV001524976;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123588	108123588	11:g.108123588C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1848T>C (p.Thr616=)	472	ATM	Likely benign	1045549048	RCV001413658\|RCV003160655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123589	108123589	108123589	-
NM_000051.4(ATM):c.1849A>G (p.Met617Val)	472	ATM	Uncertain significance	1555072530	RCV000568508\|RCV000801243\|RCV001357557;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108123590	108123590	NC_000011.9:g.108123590A>G	ClinGen:CA382535861	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1851G>A (p.Met617Ile)	472	ATM	Uncertain significance	-1	RCV002294753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123592	108123592	108123592	-
NM_000051.4(ATM):c.1856del (p.Asn619fs)	472	ATM	Likely pathogenic	1057517300	RCV000409882;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123593	108123593	NC_000011.9:g.108123597del	ClinGen:CA16041387	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1855A>C (p.Asn619His)	472	ATM	Conflicting interpretations of pathogenicity	140882609	RCV000131223\|RCV000203692\|RCV000587634\|RCV001530924\|RCV003407554\|RCV003467169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123596	108123596	11:g.108123596A>C	ClinGen:CA167802	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1856A>T (p.Asn619Ile)	472	ATM	Uncertain significance	-1	RCV003008032;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123597	108123597	NC_000011.9:g.108123597A>T	-
NM_000051.4(ATM):c.1857del (p.Cys620fs)	472	ATM	Pathogenic	2135354155	RCV001929184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123598	108123598	108123597	-
NM_000051.4(ATM):c.1858del (p.Cys620fs)	472	ATM	Pathogenic	1565387848	RCV000772895\|RCV001856033;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123599	108123599	NC_000011.9:g.108123599del	-
NM_000051.4(ATM):c.1859_1860del (p.Asn619_Cys620insTer)	472	ATM	Pathogenic/Likely pathogenic	2080230745	RCV001178026\|RCV001875876\|RCV003462649;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123599	108123600	11:g.108123599_108123600del	-
NM_000051.4(ATM):c.1858T>C (p.Cys620Arg)	472	ATM	Uncertain significance	2080230578	RCV001341291\|RCV002245969\|RCV003469569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123599	108123599	108123599	-
NM_000051.4(ATM):c.1858T>A (p.Cys620Ser)	472	ATM	Uncertain significance	2080230578	RCV001907833;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123599	108123599	108123599	-
NM_000051.4(ATM):c.1866T>C (p.Ala622=)	472	ATM	Likely benign	2135354414	RCV001412744;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123607	108123607	108123607	-
NM_000051.4(ATM):c.1869A>G (p.Ala623=)	472	ATM	Likely benign	1591531055	RCV001013461\|RCV002068872;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123610	108123610	11:g.108123610A>G	-
NM_000051.4(ATM):c.1870A>G (p.Met624Val)	472	ATM	Uncertain significance	863224557	RCV000199383\|RCV000561043\|RCV002054349\|RCV003468899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123611	108123611	NC_000011.9:g.108123611A>G	ClinGen:CA338610	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1870A>C (p.Met624Leu)	472	ATM	Uncertain significance	863224557	RCV002031557\|RCV002407324;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123611	108123611	108123611	-
NM_000051.4(ATM):c.1872G>C (p.Met624Ile)	472	ATM	Uncertain significance	1060501530	RCV000474237;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123613	108123613	NC_000011.9:g.108123613G>C	ClinGen:CA16613268	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1873A>T (p.Asn625Tyr)	472	ATM	Uncertain significance	2080231346	RCV001235327;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123614	108123614	11:g.108123614A>T	-
NM_000051.4(ATM):c.1880dup (p.Gln628fs)	472	ATM	Pathogenic/Likely pathogenic	786202474	RCV000165300\|RCV000808213\|RCV003474866;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123615	108123616	NC_000011.9:g.108123621dup	ClinGen:CA193014	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1874A>T (p.Asn625Ile)	472	ATM	Uncertain significance	766757573	RCV000777660\|RCV001060860\|RCV003461047;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123615	108123615	NC_000011.9:g.108123615A>T	-
NM_000051.4(ATM):c.1880T>G (p.Phe627Cys)	472	ATM	Uncertain significance	546087885	RCV000213749\|RCV000456562\|RCV000482413\|RCV001193666\|RCV001798721;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MedGen:CN221562	11	108123621	108123621	11:g.108123621T>G	ClinGen:CA6264891	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1881C>T (p.Phe627=)	472	ATM	Likely benign	1555072574	RCV000540668\|RCV001013489;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123622	108123622	NC_000011.9:g.108123622C>T	ClinGen:CA476672251	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1882C>T (p.Gln628Ter)	472	ATM	Pathogenic/Likely pathogenic	2135354813	RCV001939449\|RCV003464298;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123623	108123623	108123623	-
NM_000051.4(ATM):c.1884A>G (p.Gln628=)	472	ATM	Conflicting interpretations of pathogenicity	1555072578	RCV000566612\|RCV000628072;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123625	108123625	NC_000011.9:g.108123625A>G	ClinGen:CA476672252	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1887C>T (p.Ser629=)	472	ATM	Benign/Likely benign	143097772	RCV000222682\|RCV000440463\|RCV000476652\|RCV001795354;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108123628	108123628	11:g.108123628C>T	ClinGen:CA6264892	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1888G>A (p.Val630Met)	472	ATM	Conflicting interpretations of pathogenicity	148191382	RCV000129681\|RCV000590311\|RCV001079129\|RCV001356176\|RCV001731482\|RCV003398759\|RCV003149894;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|\|MedGen:CN221562	11	108123629	108123629	11:g.108123629G>A	ClinGen:CA164912	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1889T>C (p.Val630Ala)	472	ATM	Uncertain significance	587782226	RCV000130917\|RCV000235574\|RCV000553410;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123630	108123630	11:g.108123630T>C	ClinGen:CA167377	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1890G>T (p.Val630=)	472	ATM	Likely benign	1555072586	RCV000584435\|RCV002060579;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123631	108123631	11:g.108123631G>T	ClinGen:CA476672255	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1892C>T (p.Pro631Leu)	472	ATM	Uncertain significance	756782634	RCV000221117\|RCV000486382\|RCV000627964;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123633	108123633	11:g.108123633C>T	ClinGen:CA6264894	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1893A>G (p.Pro631=)	472	ATM	Likely benign	764702196	RCV000571528\|RCV000606153\|RCV000628303;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123634	108123634	NC_000011.9:g.108123634A>G	ClinGen:CA6264895	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1896A>G (p.Glu632=)	472	ATM	Likely benign	2135355169	RCV001397411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123637	108123637	108123637	-
NM_000051.4(ATM):c.1897T>C (p.Cys633Arg)	472	ATM	Uncertain significance	1555072606	RCV000580300\|RCV001860028;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123638	108123638	NC_000011.9:g.108123638T>C	ClinGen:CA382536111	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1898G>C (p.Cys633Ser)	472	ATM	Uncertain significance	-1	RCV003046706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123639	108123639	NC_000011.9:g.108123639G>C	-
NM_000051.4(ATM):c.1898+1G>T	472	ATM	Pathogenic/Likely pathogenic	758325274	RCV000529407\|RCV000576102;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108123640	108123640	NC_000011.9:g.108123640G>T	ClinGen:CA382536128	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1898+1G>A	472	ATM	Pathogenic	758325274	RCV000688133;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123640	108123640	11:g.108123640G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1898+2T>G	472	ATM	Pathogenic/Likely pathogenic	587782124	RCV000130662\|RCV000235311\|RCV000461282\|RCV003322598;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108123641	108123641	11:g.108123641T>G	ClinGen:CA166848	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1898+3A>G	472	ATM	Uncertain significance	200169643	RCV000542135\|RCV000571939\|RCV003150259\|RCV003324759;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562\|MedGen:C3661900	11	108123642	108123642	11:g.108123642A>G	ClinGen:CA6264898	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1898+5G>A	472	ATM	Uncertain significance	1372634189	RCV001039340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123644	108123644	11:g.108123644G>A	-
NM_000051.4(ATM):c.1898+5_1898+6delinsAA	472	ATM	Uncertain significance	2135355386	RCV001957294;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123644	108123645	108123644	-
NM_000051.4(ATM):c.1898+5del	472	ATM	Uncertain significance	2135355372	RCV001956625;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123644	108123644	108123643	-
NM_000051.4(ATM):c.1898+8A>T	472	ATM	Likely benign	-1	RCV003022945;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123647	108123647	NC_000011.9:g.108123647A>T	-
NM_000051.4(ATM):c.1898+9T>C	472	ATM	Likely benign	1057520836	RCV000440386\|RCV000580370\|RCV000628295;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123648	108123648	11:g.108123648T>C	ClinGen:CA16606159	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1898+10C>G	472	ATM	Likely benign	199570442	RCV001393239\|RCV001726543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108123649	108123649	108123649	-
NM_000051.4(ATM):c.1898+16A>T	472	ATM	Likely benign	-1	RCV002797397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123655	108123655	NC_000011.9:g.108123655A>T	-
NM_000051.4(ATM):c.1898+18G>A	472	ATM	Likely benign	2135355669	RCV002082466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123657	108123657	108123657	-
NM_000051.4(ATM):c.1898+19C>G	472	ATM	Likely benign	-1	RCV002816248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108123658	108123658	NC_000011.9:g.108123658C>G	-
NM_000051.4(ATM):c.1899-123A>G	472	ATM	Uncertain significance	55744559	RCV002003768;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124418	108124418	108124418	-
NC_000011.9:g.(?_108124463)_(108126942_?)del	472	ATM	Likely pathogenic	-1	RCV002001432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124463	108126942	-1	-
NM_000051.4(ATM):c.1899-55T>G	472	ATM	Benign	4987951	RCV000554594\|RCV000591590\|RCV001653883\|RCV002255427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124486	108124486	NC_000011.9:g.108124486T>G	ClinGen:CA228393271	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108124486)_(108225611_?)del	472	ATM	Pathogenic	-1	RCV001384214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124486	108225611	-1	-
NM_000051.4(ATM):c.1899-23_1899-19del	472	ATM	Likely benign	2135364890	RCV002078742;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124517	108124521	108124516	-
NM_000051.4(ATM):c.1899-17A>G	472	ATM	Uncertain significance	2135365023	RCV001986325\|RCV003464366;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124524	108124524	108124524	-
NM_000051.4(ATM):c.1899-16T>A	472	ATM	Conflicting interpretations of pathogenicity	1352009139	RCV000583758\|RCV001584398\|RCV002060580;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124525	108124525	11:g.108124525T>A	ClinGen:CA601695853	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1899-16_1899-15insA	472	ATM	Likely benign	2135365068	RCV002078743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124525	108124526	108124525	-
NM_000051.4(ATM):c.1899-16T>C	472	ATM	Likely benign	-1	RCV002810194;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124525	108124525	NC_000011.9:g.108124525T>C	-
NM_000051.4(ATM):c.1899-15C>A	472	ATM	Likely benign	759924007	RCV002110331;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124526	108124526	108124526	-
NM_000051.4(ATM):c.1899-14T>C	472	ATM	Likely benign	2135365137	RCV002194646;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124527	108124527	108124527	-
NM_000051.4(ATM):c.1899-11C>T	472	ATM	Likely benign	730881282	RCV001182004\|RCV001721016\|RCV002053911;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124530	108124530	NC_000011.9:g.108124530C>T	ClinGen:CA297985	CN169374 not specified;
NM_000051.4(ATM):c.1899-11C>G	472	ATM	Conflicting interpretations of pathogenicity	730881282	RCV002087907\|RCV002256909;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124530	108124530	108124530	-
NM_000051.4(ATM):c.1899-10T>G	472	ATM	Conflicting interpretations of pathogenicity	763685190	RCV000199706\|RCV000582294\|RCV001355136\|RCV001565593\|RCV003150083;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562	11	108124531	108124531	NC_000011.9:g.108124531T>G	ClinGen:CA338810	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1899-10T>A	472	ATM	Likely benign	-1	RCV002867317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124531	108124531	NC_000011.9:g.108124531T>A	-
NM_000051.4(ATM):c.1899-9T>G	472	ATM	Likely benign	1591533635	RCV000875736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124532	108124532	11:g.108124532T>G	-
NM_000051.4(ATM):c.1899-8_1904del	472	ATM	Likely pathogenic	2080290215	RCV001228749;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124533	108124546	11:g.108124533_108124546del	-
NM_000051.4(ATM):c.1899-7C>A	472	ATM	Conflicting interpretations of pathogenicity	1060501584	RCV000476856\|RCV001189959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124534	108124534	NC_000011.9:g.108124534C>A	ClinGen:CA16613018	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1899-7C>T	472	ATM	Likely benign	1060501584	RCV000628250;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124534	108124534	NC_000011.9:g.108124534C>T	ClinGen:CA658797792	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1899-5T>C	472	ATM	Uncertain significance	1591533679	RCV001044996;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124536	108124536	11:g.108124536T>C	-
NM_000051.4(ATM):c.1899-5T>G	472	ATM	Uncertain significance	1591533679	RCV001218281;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124536	108124536	11:g.108124536T>G	-
NM_000051.4(ATM):c.1899-4G>A	472	ATM	Uncertain significance	2135365402	RCV002048236;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124537	108124537	108124537	-
NM_000051.4(ATM):c.1899-3A>G	472	ATM	Uncertain significance	1555073062	RCV000572021\|RCV001203228;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124538	108124538	NC_000011.9:g.108124538A>G	ClinGen:CA658656176	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1899-2A>C	472	ATM	Pathogenic	-1	RCV003103157\|RCV003289514\|RCV003164586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108124539	108124539	NC_000011.9:g.108124539A>C	-
NM_000051.4(ATM):c.1899-1G>A	472	ATM	Pathogenic/Likely pathogenic	1555073065	RCV000581303\|RCV002529179;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124540	108124540	NC_000011.9:g.108124540G>A	ClinGen:CA382536246	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1899-1G>T	472	ATM	Pathogenic/Likely pathogenic	1555073065	RCV000811700\|RCV001013549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124540	108124540	11:g.108124540G>T	-
NM_000051.4(ATM):c.1899T>G (p.Cys633Trp)	472	ATM	Uncertain significance	1040176168	RCV000561831\|RCV000704913;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124541	108124541	NC_000011.9:g.108124541T>G	ClinGen:CA228393380	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1901A>T (p.Glu634Val)	472	ATM	Uncertain significance	1555073069	RCV000586643\|RCV001860116\|RCV002413661\|RCV003465321;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124543	108124543	NC_000011.9:g.108124543A>T	ClinGen:CA382536268	CN517202 not provided;
NM_000051.4(ATM):c.1901A>G (p.Glu634Gly)	472	ATM	Uncertain significance	1555073069	RCV000799562;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124543	108124543	11:g.108124543A>G	-
NM_000051.4(ATM):c.1902A>G (p.Glu634=)	472	ATM	Likely benign	1060501633	RCV000460856\|RCV000566883\|RCV001692130;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108124544	108124544	NC_000011.9:g.108124544A>G	ClinGen:CA16613084	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1905_1910del (p.His635_His636del)	472	ATM	Uncertain significance	587781635	RCV000129745\|RCV000484428\|RCV000674747\|RCV002221495;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124545	108124550	11:g.108124545_108124550del	ClinGen:CA165011	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1903C>T (p.His635Tyr)	472	ATM	Uncertain significance	761491947	RCV000229138\|RCV000562554;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124545	108124545	11:g.108124545C>T	ClinGen:CA6264910	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1905C>T (p.His635=)	472	ATM	Conflicting interpretations of pathogenicity	1020808836	RCV000478597\|RCV000575131\|RCV001475097\|RCV002307518;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108124547	108124547	11:g.108124547C>T	ClinGen:CA16619129	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1905C>A (p.His635Gln)	472	ATM	Uncertain significance	1020808836	RCV000698207;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124547	108124547	11:g.108124547C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1906del (p.His636fs)	472	ATM	Pathogenic	-1	RCV002408351\|RCV003097340;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124547	108124547	108124546	-
NM_000051.4(ATM):c.1906C>T (p.His636Tyr)	472	ATM	Uncertain significance	786203654	RCV000167057\|RCV000821353;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124548	108124548	11:g.108124548C>T	ClinGen:CA197388	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1906C>G (p.His636Asp)	472	ATM	Uncertain significance	-1	RCV003019131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124548	108124548	NC_000011.9:g.108124548C>G	-
NM_000051.4(ATM):c.1907A>G (p.His636Arg)	472	ATM	Uncertain significance	1333990758	RCV000687002\|RCV001013584\|RCV003465560;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124549	108124549	11:g.108124549A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1908C>T (p.His636=)	472	ATM	Likely benign	2135365854	RCV002121003\|RCV002409563;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124550	108124550	108124550	-
NM_000051.4(ATM):c.1914dup (p.Asp639fs)	472	ATM	Pathogenic/Likely pathogenic	2080292910	RCV001261516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124551	108124552	11:g.108124551_108124552insA	-
NM_000051.4(ATM):c.1910A>G (p.Gln637Arg)	472	ATM	Conflicting interpretations of pathogenicity	1565389611	RCV000691021\|RCV000773184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124552	108124552	11:g.108124552A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1914del (p.Asp639fs)	472	ATM	Pathogenic	2080292910	RCV001960596;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124552	108124552	108124551	-
NM_000051.4(ATM):c.1911A>G (p.Gln637=)	472	ATM	Likely benign	764790965	RCV000220783\|RCV000461660\|RCV001705206;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124553	108124553	11:g.108124553A>G	ClinGen:CA6264911	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1914_1929dup (p.Ser644delinsArgTer)	472	ATM	Pathogenic	864622415	RCV000206738\|RCV000581218\|RCV000627508;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108124555	108124556	11:g.108124555_108124556insAGATAAAGAAGAACTT	ClinGen:CA350744	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1914A>C (p.Lys638Asn)	472	ATM	Uncertain significance	587781753	RCV000129959\|RCV000168004;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124556	108124556	11:g.108124556A>C	ClinGen:CA165422	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1915_1916insT (p.Asp639fs)	472	ATM	Pathogenic/Likely pathogenic	1060501610	RCV000476539\|RCV000657263\|RCV001013682\|RCV003470424;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124557	108124558	NC_000011.9:g.108124557_108124558insT	ClinGen:CA16613347	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1915G>C (p.Asp639His)	472	ATM	Uncertain significance	1591533828	RCV001013685\|RCV001175461\|RCV001242715;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124557	108124557	11:g.108124557G>C	-
NM_000051.4(ATM):c.1916A>T (p.Asp639Val)	472	ATM	Uncertain significance	1591533846	RCV001365384;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124558	108124558	108124558	-
NM_000051.4(ATM):c.1920dup (p.Glu641fs)	472	ATM	Pathogenic	2080294213	RCV001242730;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124559	108124560	11:g.108124559_108124560insA	-
NM_000051.4(ATM):c.1918A>T (p.Lys640Ter)	472	ATM	Pathogenic/Likely pathogenic	879254190	RCV000237008\|RCV001013694\|RCV001221172\|RCV002494679;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108124560	108124560	11:g.108124560A>T	ClinGen:CA10584327	CN517202 not provided;
NM_000051.4(ATM):c.1920_1923del (p.Glu641fs)	472	ATM	Pathogenic/Likely pathogenic	1555073111	RCV000572580\|RCV000627896\|RCV003459315;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124560	108124563	NC_000011.9:g.108124562_108124565del	ClinGen:CA658656178	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1918A>G (p.Lys640Glu)	472	ATM	Uncertain significance	879254190	RCV000694690\|RCV002406591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124560	108124560	NC_000011.9:g.108124560A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1918_1920del (p.Lys640del)	472	ATM	Uncertain significance	2135366155	RCV001886164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124560	108124562	108124559	-
NM_000051.4(ATM):c.1921GAA[1] (p.Glu642del)	472	ATM	Conflicting interpretations of pathogenicity	876659575	RCV000218529\|RCV000235502\|RCV000529776\|RCV002225523\|RCV003137824;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,O	11	108124561	108124563	11:g.108124561_108124563del	ClinGen:CA10579030	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1919A>C (p.Lys640Thr)	472	ATM	Uncertain significance	2135366191	RCV002042259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124561	108124561	108124561	-
NM_000051.4(ATM):c.1923A>G (p.Glu641=)	472	ATM	Conflicting interpretations of pathogenicity	2135366297	RCV002180899\|RCV002409538;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124565	108124565	108124565	-
NM_000051.4(ATM):c.1924G>A (p.Glu642Lys)	472	ATM	Uncertain significance	1057519364	RCV002044671;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124566	108124566	108124566	-
NM_000051.4(ATM):c.1926A>G (p.Glu642=)	472	ATM	Likely benign	786201469	RCV000163704\|RCV000612384\|RCV000908546;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124568	108124568	11:g.108124568A>G	ClinGen:CA188993	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1926A>T (p.Glu642Asp)	472	ATM	Uncertain significance	786201469	RCV000563663\|RCV001834817;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124568	108124568	NC_000011.9:g.108124568A>T	ClinGen:CA382536500	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1927C>G (p.Leu643Val)	472	ATM	Uncertain significance	1565389730	RCV000774131\|RCV002501005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124569	108124569	NC_000011.9:g.108124569C>G	-
NM_000051.4(ATM):c.1929T>G (p.Leu643=)	472	ATM	Likely benign	876659911	RCV000628251\|RCV001189991;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124571	108124571	11:g.108124571T>G	ClinGen:CA476672338	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1930T>A (p.Ser644Thr)	472	ATM	Uncertain significance	1555073128	RCV000628160\|RCV002413784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124572	108124572	11:g.108124572T>A	ClinGen:CA382536532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1931C>A (p.Ser644Ter)	472	ATM	Pathogenic/Likely pathogenic	768362387	RCV000222313\|RCV000482158\|RCV000576759\|RCV000762815\|RCV003235146;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108124573	108124573	11:g.108124573C>A	ClinGen:CA10579032	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1931C>G (p.Ser644Ter)	472	ATM	Pathogenic	768362387	RCV000797611\|RCV001805865\|RCV003166158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108124573	108124573	11:g.108124573C>G	-
NM_000051.4(ATM):c.1932A>T (p.Ser644=)	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002410937\|RCV003097364;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124574	108124574		-
NM_000051.4(ATM):c.1935C>T (p.Phe645=)	472	ATM	Conflicting interpretations of pathogenicity	876659709	RCV000219027\|RCV001488487;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124577	108124577	11:g.108124577C>T	ClinGen:CA10579033	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1935C>G (p.Phe645Leu)	472	ATM	Uncertain significance	876659709	RCV000546796;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124577	108124577	NC_000011.9:g.108124577C>G	ClinGen:CA382536573	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1936T>C (p.Ser646Pro)	472	ATM	Uncertain significance	1485023251	RCV001066539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124578	108124578	11:g.108124578T>C	-
NM_000051.4(ATM):c.1937C>A (p.Ser646Ter)	472	ATM	Pathogenic	1591534005	RCV001224512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124579	108124579	11:g.108124579C>A	-
NM_000051.4(ATM):c.1938A>G (p.Ser646=)	472	ATM	Likely benign	1376318521	RCV000616111\|RCV001013749\|RCV001470771;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124580	108124580	11:g.108124580A>G	ClinGen:CA476672348	CN169374 not specified;
NM_000051.4(ATM):c.1939G>T (p.Glu647Ter)	472	ATM	Pathogenic	1060501599	RCV000464991\|RCV000567510\|RCV000657762\|RCV003168781;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108124581	108124581	NC_000011.9:g.108124581G>T	ClinGen:CA16613019	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1939G>A (p.Glu647Lys)	472	ATM	Uncertain significance	1060501599	RCV001013751\|RCV001347475;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124581	108124581	11:g.108124581G>A	-
NM_000051.4(ATM):c.1941A>C (p.Glu647Asp)	472	ATM	Uncertain significance	2080297000	RCV001238480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124583	108124583	11:g.108124583A>C	-
NM_000051.4(ATM):c.1943T>C (p.Val648Ala)	472	ATM	Conflicting interpretations of pathogenicity	141175037	RCV000195774\|RCV000221613\|RCV000479071\|RCV000780905\|RCV003474956;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124585	108124585	NC_000011.9:g.108124585T>C	ClinGen:CA335930	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1944A>C (p.Val648=)	472	ATM	Likely benign	1555073161	RCV000559482\|RCV002413419;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124586	108124586	11:g.108124586A>C	ClinGen:CA476672356	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1944A>G (p.Val648=)	472	ATM	Likely benign	1555073161	RCV000584152\|RCV002529180;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124586	108124586	NC_000011.9:g.108124586A>G	ClinGen:CA476672357	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1945GAA[1] (p.Glu650del)	472	ATM	Uncertain significance	1555073166	RCV000671419\|RCV002406514\|RCV003465509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124586	108124588	11:g.108124586_108124588del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1945G>A (p.Glu649Lys)	472	ATM	Uncertain significance	786202511	RCV000165355\|RCV000467749;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124587	108124587	11:g.108124587G>A	ClinGen:CA193175	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1947A>G (p.Glu649=)	472	ATM	Likely benign	1032244771	RCV000572460\|RCV000869799\|RCV001712533;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124589	108124589	NC_000011.9:g.108124589A>G	ClinGen:CA228393512	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1948G>A (p.Glu650Lys)	472	ATM	Uncertain significance	2135367169	RCV001937291;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124590	108124590	108124590	-
NM_000051.4(ATM):c.1948G>C (p.Glu650Gln)	472	ATM	Uncertain significance	-1	RCV002304117;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124590	108124590	108124590	-
NM_000051.4(ATM):c.1951C>T (p.Leu651=)	472	ATM	Likely benign	1057521751	RCV000569447\|RCV000628255\|RCV001697789;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124593	108124593	11:g.108124593C>T	ClinGen:CA16606160	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1952T>C (p.Leu651Pro)	472	ATM	Uncertain significance	1555073179	RCV000571763\|RCV000798756;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124594	108124594	NC_000011.9:g.108124594T>C	ClinGen:CA382536697	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1952T>A (p.Leu651Gln)	472	ATM	Uncertain significance	1555073179	RCV000814134;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124594	108124594	11:g.108124594T>A	-
NM_000051.4(ATM):c.1953A>G (p.Leu651=)	472	ATM	Benign/Likely benign	730881283	RCV000159605\|RCV000211970\|RCV000587703\|RCV001079832;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124595	108124595	NC_000011.9:g.108124595A>G	ClinGen:CA297986	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1954T>C (p.Phe652Leu)	472	ATM	Uncertain significance	1565389902	RCV000705604\|RCV000773598\|RCV002499273;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124596	108124596	11:g.108124596T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1956_1959del (p.Leu653fs)	472	ATM	Pathogenic	-1	RCV003026058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124596	108124599	NC_000011.9:g.108124598_108124601del	-
NM_000051.4(ATM):c.1955T>C (p.Phe652Ser)	472	ATM	Uncertain significance	766259936	RCV001240335\|RCV001806076\|RCV002418823\|RCV003469454;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124597	108124597	11:g.108124597T>C	-
NM_000051.4(ATM):c.1957C>T (p.Leu653Phe)	472	ATM	Uncertain significance	-1	RCV002421640\|RCV003100958;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124599	108124599	108124599	-
NM_000051.4(ATM):c.1960C>A (p.Gln654Lys)	472	ATM	Conflicting interpretations of pathogenicity	528165789	RCV000122828\|RCV000165083\|RCV000254742\|RCV001354480\|RCV003320097\|RCV003467083;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0015278,MedGen:C2931038, Orphanet:1333\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:1144	11	108124602	108124602	NC_000011.9:g.108124602C>A	ClinGen:CA192475	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1961A>C (p.Gln654Pro)	472	ATM	Uncertain significance	876659966	RCV000218582\|RCV000627918\|RCV001762493;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124603	108124603	11:g.108124603A>C	ClinGen:CA10579034	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1962G>T (p.Gln654His)	472	ATM	Uncertain significance	1416371202	RCV001204120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124604	108124604	11:g.108124604G>T	-
NM_000051.4(ATM):c.1964C>T (p.Thr655Ile)	472	ATM	Uncertain significance	2080299187	RCV001034775\|RCV001186203;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124606	108124606	11:g.108124606C>T	-
NM_000051.4(ATM):c.1966del (p.Thr656fs)	472	ATM	Pathogenic	2135367757	RCV001381571;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124607	108124607	108124606	-
NM_000051.4(ATM):c.1966A>G (p.Thr656Ala)	472	ATM	Uncertain significance	1064793032	RCV000479657\|RCV000571860\|RCV000692298;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124608	108124608	11:g.108124608A>G	ClinGen:CA16619130	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1967C>T (p.Thr656Ile)	472	ATM	Uncertain significance	754800755	RCV000815837\|RCV002422826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124609	108124609	11:g.108124609C>T	-
NM_000051.4(ATM):c.1968T>C (p.Thr656=)	472	ATM	Likely benign	1317185205	RCV001013871\|RCV001437018;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124610	108124610	11:g.108124610T>C	-
NM_000051.4(ATM):c.1968T>G (p.Thr656=)	472	ATM	Likely benign	1317185205	RCV001454843\|RCV002421027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124610	108124610	108124610	-
NM_000051.4(ATM):c.1972G>A (p.Asp658Asn)	472	ATM	Uncertain significance	1343017824	RCV000795417\|RCV002422702\|RCV003467347;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124614	108124614	11:g.108124614G>A	-
NM_000051.4(ATM):c.1972G>C (p.Asp658His)	472	ATM	Uncertain significance	1343017824	RCV001212636\|RCV001760186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108124614	108124614	11:g.108124614G>C	-
NM_000051.4(ATM):c.1973A>T (p.Asp658Val)	472	ATM	Uncertain significance	1177954052	RCV000530976\|RCV002420327;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124615	108124615	NC_000011.9:g.108124615A>T	ClinGen:CA382536843	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1974C>G (p.Asp658Glu)	472	ATM	Uncertain significance	1555073229	RCV000543713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124616	108124616	NC_000011.9:g.108124616C>G	ClinGen:CA382536849	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1976A>G (p.Lys659Arg)	472	ATM	Uncertain significance	1565390043	RCV000771346\|RCV001855737;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124618	108124618	NC_000011.9:g.108124618A>G	-
NM_000051.4(ATM):c.1976A>T (p.Lys659Met)	472	ATM	Uncertain significance	1565390043	RCV001035304;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124618	108124618	11:g.108124618A>T	-
NM_000051.4(ATM):c.1977G>T (p.Lys659Asn)	472	ATM	Uncertain significance	1060501565	RCV000474729\|RCV000564798;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124619	108124619	NC_000011.9:g.108124619G>T	ClinGen:CA16613349	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1977G>C (p.Lys659Asn)	472	ATM	Uncertain significance	1060501565	RCV001207000;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124619	108124619	11:g.108124619G>C	-
NM_000051.4(ATM):c.1977G>A (p.Lys659=)	472	ATM	Likely benign	1060501565	RCV001489070;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124619	108124619	108124619	-
NM_000051.4(ATM):c.1978del (p.Met660fs)	472	ATM	Pathogenic	-1	RCV003058350;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124620	108124620	NC_000011.9:g.108124620del	-
NM_000051.4(ATM):c.1979T>C (p.Met660Thr)	472	ATM	Uncertain significance	1298234172	RCV000564336\|RCV000628031;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124621	108124621	11:g.108124621T>C	ClinGen:CA382536867	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1979T>A (p.Met660Lys)	472	ATM	Uncertain significance	1298234172	RCV000627948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124621	108124621	NC_000011.9:g.108124621T>A	ClinGen:CA382536866	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1980G>T (p.Met660Ile)	472	ATM	Uncertain significance	2080301342	RCV001340902;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124622	108124622	108124622	-
NM_000051.4(ATM):c.1981G>A (p.Asp661Asn)	472	ATM	Uncertain significance	1029931261	RCV000627947\|RCV002420658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124623	108124623	NC_000011.9:g.108124623G>A	ClinGen:CA228393576	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1981G>C (p.Asp661His)	472	ATM	Uncertain significance	1029931261	RCV001297891\|RCV002418896;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124623	108124623	108124623	-
NM_000051.4(ATM):c.1982A>C (p.Asp661Ala)	472	ATM	Uncertain significance	1565390124	RCV000691874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124624	108124624	11:g.108124624A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1983C>T (p.Asp661=)	472	ATM	Likely benign	2080301965	RCV001176148\|RCV001428305;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124625	108124625	11:g.108124625C>T	-
NM_000051.4(ATM):c.1988dup (p.Leu663fs)	472	ATM	Pathogenic	-1	RCV003029139;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124625	108124626	NC_000011.9:g.108124630dup	-
NM_000051.4(ATM):c.1986T>C (p.Phe662=)	472	ATM	Conflicting interpretations of pathogenicity	1800055	RCV000122829\|RCV000123724\|RCV000211971\|RCV000586136\|RCV001356414\|RCV001798389\|RCV003315804;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108124628	108124628	NC_000011.9:g.108124628T>C	ClinGen:CA289538	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1989A>G (p.Leu663=)	472	ATM	Likely benign	786202748	RCV000165719\|RCV000438152\|RCV001502832;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124631	108124631	11:g.108124631A>G	ClinGen:CA194064	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1992dup (p.Ile665fs)	472	ATM	Pathogenic	2135368545	RCV001885860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124632	108124633	108124632	-
NM_000051.4(ATM):c.1993A>G (p.Ile665Val)	472	ATM	Uncertain significance	1060501645	RCV000474844\|RCV002418372\|RCV003235223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108124635	108124635	NC_000011.9:g.108124635A>G	ClinGen:CA16613020	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1993A>C (p.Ile665Leu)	472	ATM	Uncertain significance	1060501645	RCV001013955\|RCV001223780;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124635	108124635	11:g.108124635A>C	-
NM_000051.4(ATM):c.1994T>C (p.Ile665Thr)	472	ATM	Uncertain significance	1064793789	RCV000481061\|RCV000627944\|RCV000772636;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124636	108124636	11:g.108124636T>C	ClinGen:CA16619131	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1995del (p.Ile665fs)	472	ATM	Pathogenic	1591534382	RCV000820505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124636	108124636	11:g.108124636_108124636del	-
NM_000051.4(ATM):c.1995T>C (p.Ile665=)	472	ATM	Likely benign	1555073271	RCV000560657;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124637	108124637	NC_000011.9:g.108124637T>C	ClinGen:CA476672400	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.1997del (p.Val666fs)	472	ATM	Pathogenic	2080303837	RCV001204789;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124639	108124639	11:g.108124639_108124639del	-
NM_000051.4(ATM):c.1998G>C (p.Val666=)	472	ATM	Likely benign	748380150	RCV000220405\|RCV002054992;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124640	108124640	11:g.108124640G>C	ClinGen:CA10579035	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.1998G>A (p.Val666=)	472	ATM	Likely benign	748380150	RCV000536993\|RCV000573951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124640	108124640	NC_000011.9:g.108124640G>A	ClinGen:CA6264914	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2005T>C (p.Cys669Arg)	472	ATM	Uncertain significance	587782141	RCV000130699\|RCV000485416\|RCV000549496;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124647	108124647	11:g.108124647T>C	ClinGen:CA166922	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2009G>A (p.Gly670Asp)	472	ATM	Uncertain significance	887944555	RCV000574865\|RCV000687799\|RCV002225666;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124651	108124651	11:g.108124651G>A	ClinGen:CA228393595	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2009G>T (p.Gly670Val)	472	ATM	Uncertain significance	887944555	RCV001960958;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124651	108124651	108124651	-
NM_000051.4(ATM):c.2010T>C (p.Gly670=)	472	ATM	Likely benign	2135368892	RCV001503008;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124652	108124652	108124652	-
NM_000051.4(ATM):c.2011A>G (p.Ile671Val)	472	ATM	Uncertain significance	730881344	RCV000159688\|RCV000820528\|RCV001186648;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124653	108124653	NC_000011.9:g.108124653A>G	ClinGen:CA298153	CN169374 not specified;
NM_000051.4(ATM):c.2012T>A (p.Ile671Lys)	472	ATM	Uncertain significance	750897021	RCV000165350\|RCV000197653;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124654	108124654	11:g.108124654T>A	ClinGen:CA193161	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2013A>T (p.Ile671=)	472	ATM	Likely benign	1371341017	RCV000581799\|RCV000926975;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124655	108124655	NC_000011.9:g.108124655A>T	ClinGen:CA476672410	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2013A>G (p.Ile671Met)	472	ATM	Uncertain significance	1371341017	RCV001883823;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124655	108124655	108124655	-
NM_000051.4(ATM):c.2014G>C (p.Glu672Gln)	472	ATM	Uncertain significance	2080305905	RCV001304330\|RCV002418921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124656	108124656	108124656	-
NM_000051.4(ATM):c.2019G>A (p.Lys673=)	472	ATM	Benign/Likely benign	786203021	RCV000166143\|RCV000196447\|RCV001711447;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124661	108124661	11:g.108124661G>A	ClinGen:CA195105	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2019del (p.Lys673fs)	472	ATM	Pathogenic	1591534511	RCV000800801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124661	108124661	11:g.108124661_108124661del	-
NM_000051.4(ATM):c.2021A>G (p.His674Arg)	472	ATM	Conflicting interpretations of pathogenicity	201762714	RCV000129577\|RCV000168255\|RCV000181010\|RCV000236547\|RCV000515195\|RCV000780908\|RCV001356825;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003982,MedGen:C0281267\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO	11	108124663	108124663	11:g.108124663A>G	ClinGen:CA164702	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2022C>A (p.His674Gln)	472	ATM	Uncertain significance	2080306836	RCV001049360\|RCV002416374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124664	108124664	11:g.108124664C>A	-
NM_000051.4(ATM):c.2022C>G (p.His674Gln)	472	ATM	Uncertain significance	2080306836	RCV002003538\|RCV002423196;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124664	108124664	108124664	-
NM_000051.4(ATM):c.2023del (p.Gln675fs)	472	ATM	Pathogenic	-1	RCV003405091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124664	108124664		-
NM_000051.4(ATM):c.2023C>T (p.Gln675Ter)	472	ATM	Pathogenic/Likely pathogenic	777849257	RCV000215540\|RCV000255863\|RCV000411314\|RCV001293971\|RCV003332147;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800	11	108124665	108124665	11:g.108124665C>T	ClinGen:CA6264916	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2027C>A (p.Ser676Tyr)	472	ATM	Uncertain significance	1219097850	RCV000809931\|RCV003314650\|RCV003396414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|	11	108124669	108124669	11:g.108124669C>A	-
NM_000051.4(ATM):c.2028C>T (p.Ser676=)	472	ATM	Likely benign	375196053	RCV000167344\|RCV000919021\|RCV001560745;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124670	108124670	11:g.108124670C>T	ClinGen:CA198053	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2029A>G (p.Ser677Gly)	472	ATM	Uncertain significance	568026188	RCV001278350\|RCV002418872;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124671	108124671	11:g.108124671A>G	-
NM_000051.4(ATM):c.2029A>T (p.Ser677Cys)	472	ATM	Uncertain significance	-1	RCV003044691;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124671	108124671	NC_000011.9:g.108124671A>T	-
NM_000051.4(ATM):c.2030G>A (p.Ser677Asn)	472	ATM	Uncertain significance	2080308052	RCV001240239\|RCV002418822\|RCV003317464;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108124672	108124672	11:g.108124672G>A	-
NM_000051.4(ATM):c.2031T>C (p.Ser677=)	472	ATM	Likely benign	1591534580	RCV001014144\|RCV001827185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124673	108124673	11:g.108124673T>C	-
NM_000051.4(ATM):c.2032del (p.Ile678fs)	472	ATM	Pathogenic	2135369537	RCV001388187;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124674	108124674	108124673	-
NM_000051.4(ATM):c.2033T>C (p.Ile678Thr)	472	ATM	Uncertain significance	1485409783	RCV000561435\|RCV001066679\|RCV001328376\|RCV002289826\|RCV003150281;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN221562	11	108124675	108124675	11:g.108124675T>C	ClinGen:CA382537391	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2034T>C (p.Ile678=)	472	ATM	Likely benign	1013513956	RCV000471440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124676	108124676	NC_000011.9:g.108124676T>C	ClinGen:CA16613270	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2034T>A (p.Ile678=)	472	ATM	Likely benign	1013513956	RCV002138559;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124676	108124676	108124676	-
NM_000051.4(ATM):c.2036G>T (p.Gly679Val)	472	ATM	Uncertain significance	544123518	RCV000215407\|RCV000467380\|RCV000763689\|RCV001778808\|RCV003231407;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108124678	108124678	11:g.108124678G>T	ClinGen:CA6264919	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2036G>C (p.Gly679Ala)	472	ATM	Uncertain significance	544123518	RCV000481812\|RCV000775942\|RCV001208022;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124678	108124678	11:g.108124678G>C	ClinGen:CA16619132	CN169374 not specified;
NM_000051.4(ATM):c.2040C>T (p.Phe680=)	472	ATM	Benign/Likely benign	587780855	RCV000123725\|RCV000197974\|RCV000211972;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108124682	108124682	NC_000011.9:g.108124682C>T	ClinGen:CA289541	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2044_2057del (p.Val682fs)	472	ATM	Pathogenic	2135369731	RCV001384186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124683	108124696	108124682	-
NM_000051.4(ATM):c.2042C>G (p.Ser681Cys)	472	ATM	Uncertain significance	1060501585	RCV000462399\|RCV001805068\|RCV003470417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124684	108124684	NC_000011.9:g.108124684C>G	ClinGen:CA16613355	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2042C>T (p.Ser681Phe)	472	ATM	Uncertain significance	1060501585	RCV000573239\|RCV000627889;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124684	108124684	NC_000011.9:g.108124684C>T	ClinGen:CA382537421	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2043T>A (p.Ser681=)	472	ATM	Likely benign	746422877	RCV000537049\|RCV000603603\|RCV000771709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124685	108124685	11:g.108124685T>A	ClinGen:CA476672422	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2044G>T (p.Val682Phe)	472	ATM	Uncertain significance	2135369797	RCV001983520;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124686	108124686	108124686	-
NM_000051.4(ATM):c.2045T>G (p.Val682Gly)	472	ATM	Uncertain significance	-1	RCV002305019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124687	108124687	108124687	-
NM_000051.4(ATM):c.2046C>G (p.Val682=)	472	ATM	Likely benign	1591534664	RCV001476976;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124688	108124688	11:g.108124688C>G	-
NM_000051.4(ATM):c.2047C>T (p.His683Tyr)	472	ATM	Uncertain significance	1565390482	RCV000776869\|RCV001856137;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124689	108124689	NC_000011.9:g.108124689C>T	-
NM_000051.4(ATM):c.2048A>G (p.His683Arg)	472	ATM	Uncertain significance	1421091487	RCV000568078\|RCV001320576;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124690	108124690	11:g.108124690A>G	ClinGen:CA382537439	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2050C>G (p.Gln684Glu)	472	ATM	Uncertain significance	1060501691	RCV000476849\|RCV001014204\|RCV003470441;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124692	108124692	NC_000011.9:g.108124692C>G	ClinGen:CA16613273	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2051A>G (p.Gln684Arg)	472	ATM	Uncertain significance	772393149	RCV000166467\|RCV000226670\|RCV000236655\|RCV001824657\|RCV003462214;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124693	108124693	11:g.108124693A>G	ClinGen:CA195956	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2052G>C (p.Gln684His)	472	ATM	Uncertain significance	775890872	RCV000204655\|RCV001785517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108124694	108124694	11:g.108124694G>C	ClinGen:CA348859	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2054A>G (p.Asn685Ser)	472	ATM	Uncertain significance	1412443702	RCV000549814\|RCV001014244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124696	108124696	NC_000011.9:g.108124696A>G	ClinGen:CA382537462	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2054A>T (p.Asn685Ile)	472	ATM	Uncertain significance	1412443702	RCV000564106\|RCV001051372;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124696	108124696	NC_000011.9:g.108124696A>T	ClinGen:CA382537464	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2056C>A (p.Leu686Ile)	472	ATM	Uncertain significance	1335638362	RCV000583287\|RCV000792282\|RCV001030520\|RCV001526953;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108124698	108124698	NC_000011.9:g.108124698C>A	ClinGen:CA382537468	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2057T>A (p.Leu686His)	472	ATM	Uncertain significance	1239416977	RCV000564638\|RCV000628044\|RCV001567142;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124699	108124699	NC_000011.9:g.108124699T>A	ClinGen:CA382537471	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2058C>G (p.Leu686=)	472	ATM	Likely benign	761397203	RCV001014263\|RCV001442048\|RCV001731701;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108124700	108124700	NC_000011.9:g.108124700C>G	ClinGen:CA16613356	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2058C>T (p.Leu686=)	472	ATM	Likely benign	761397203	RCV001193668\|RCV001506832\|RCV002418649;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124700	108124700	11:g.108124700C>T	-
NM_000051.4(ATM):c.2059A>C (p.Lys687Gln)	472	ATM	Uncertain significance	2135370162	RCV001915564;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124701	108124701	108124701	-
NM_000051.4(ATM):c.2060A>G (p.Lys687Arg)	472	ATM	Uncertain significance	2080312441	RCV001191734\|RCV001307691;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124702	108124702	11:g.108124702A>G	-
NM_000051.4(ATM):c.2064_2072del (p.Glu688_Leu690del)	472	ATM	Uncertain significance	2135370232	RCV002031667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124703	108124711	108124702	-
NM_000051.4(ATM):c.2062G>A (p.Glu688Lys)	472	ATM	Uncertain significance	769338089	RCV000471563\|RCV000573324\|RCV001731691\|RCV003463887;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124704	108124704	NC_000011.9:g.108124704G>A	ClinGen:CA6264922	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2062G>C (p.Glu688Gln)	472	ATM	Uncertain significance	769338089	RCV000476884\|RCV000775701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124704	108124704	NC_000011.9:g.108124704G>C	ClinGen:CA16613357	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2062G>T (p.Glu688Ter)	472	ATM	Pathogenic/Likely pathogenic	769338089	RCV001936550\|RCV003464251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124704	108124704	108124704	-
NM_000051.4(ATM):c.2064del (p.Glu688fs)	472	ATM	Pathogenic	-1	RCV002711883;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124705	108124705	NC_000011.9:g.108124706del	-
NM_000051.4(ATM):c.2064A>G (p.Glu688=)	472	ATM	Likely benign	772739433	RCV000163846\|RCV000600866\|RCV000924632;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124706	108124706	11:g.108124706A>G	ClinGen:CA189331	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2067A>G (p.Ser689=)	472	ATM	Likely benign	1555073434	RCV001014298\|RCV000603336\|RCV001489488;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124709	108124709	11:g.108124709A>G	ClinGen:CA476672433	CN169374 not specified;
NM_000051.4(ATM):c.2068C>T (p.Leu690=)	472	ATM	Likely benign	1555073437	RCV000610141\|RCV001454261\|RCV002420619;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124710	108124710	11:g.108124710C>T	ClinGen:CA476672435	CN169374 not specified;
NM_000051.4(ATM):c.2068C>A (p.Leu690Met)	472	ATM	Uncertain significance	1555073437	RCV001340099\|RCV002246317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108124710	108124710	108124710	-
NM_000051.4(ATM):c.2069T>C (p.Leu690Pro)	472	ATM	Uncertain significance	1555073438	RCV000627872;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124711	108124711	11:g.108124711T>C	ClinGen:CA382537515	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2071G>C (p.Asp691His)	472	ATM	Uncertain significance	762394404	RCV000814204\|RCV001772107\|RCV002422812;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124713	108124713	11:g.108124713G>C	-
NM_000051.4(ATM):c.2074C>T (p.Arg692Cys)	472	ATM	Conflicting interpretations of pathogenicity	765965513	RCV000164063\|RCV000168071\|RCV000219263\|RCV000780902\|RCV003150012\|RCV003316015;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124716	108124716	11:g.108124716C>T	ClinGen:CA189945	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2074C>G (p.Arg692Gly)	472	ATM	Uncertain significance	-1	RCV002635686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124716	108124716	NC_000011.9:g.108124716C>G	-
NM_000051.4(ATM):c.2075G>A (p.Arg692His)	472	ATM	Uncertain significance	751515818	RCV000228332\|RCV001014336\|RCV003343712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124717	108124717	NC_000011.9:g.108124717G>A	ClinGen:CA6264924	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2075G>T (p.Arg692Leu)	472	ATM	Uncertain significance	751515818	RCV000567410\|RCV000678465\|RCV001343069\|RCV001764649;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124717	108124717	11:g.108124717G>T	ClinGen:CA382537546	C0678222 Breast carcinoma;
NM_000051.4(ATM):c.2078G>T (p.Cys693Phe)	472	ATM	Uncertain significance	2135370698	RCV001968379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124720	108124720	108124720	-
NM_000051.4(ATM):c.2080C>T (p.Leu694Phe)	472	ATM	Uncertain significance	759617968	RCV001238643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124722	108124722	11:g.108124722C>T	-
NM_000051.4(ATM):c.2082T>C (p.Leu694=)	472	ATM	Likely benign	369642243	RCV000215419\|RCV000420889\|RCV000460794\|RCV001722188;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124724	108124724	11:g.108124724T>C	ClinGen:CA6264926	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2086_2087dup	472	ATM	Likely pathogenic	-1	RCV003468676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124726	108124727		-
NM_000051.4(ATM):c.2085G>A (p.Leu695=)	472	ATM	Benign/Likely benign	786202229	RCV000164945\|RCV000232379\|RCV000589366\|RCV001357303;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108124727	108124727	11:g.108124727G>A	ClinGen:CA192145	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2086G>T (p.Gly696Ter)	472	ATM	Pathogenic	879254178	RCV001942270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124728	108124728	108124728	-
NM_000051.4(ATM):c.2086G>C (p.Gly696Arg)	472	ATM	Uncertain significance	-1	RCV002843612;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124728	108124728	NC_000011.9:g.108124728G>C	-
NM_000051.4(ATM):c.2087G>A (p.Gly696Glu)	472	ATM	Uncertain significance	752550257	RCV001248197\|RCV001760287\|RCV002418854;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124729	108124729	11:g.108124729G>A	-
NM_000051.4(ATM):c.2087G>T (p.Gly696Val)	472	ATM	Uncertain significance	752550257	RCV001359376;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124729	108124729	108124729	-
NM_000051.4(ATM):c.2088A>G (p.Gly696=)	472	ATM	Likely benign	1555073469	RCV000575532\|RCV002060451;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124730	108124730	11:g.108124730A>G	ClinGen:CA476672450	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2088A>T (p.Gly696=)	472	ATM	Likely benign	1555073469	RCV000571109\|RCV002060426;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124730	108124730	11:g.108124730A>T	ClinGen:CA476672451	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2089T>C (p.Leu697=)	472	ATM	Likely benign	-1	RCV003048779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124731	108124731		-
NM_000051.4(ATM):c.2090T>G (p.Leu697Ter)	472	ATM	Pathogenic	1591534936	RCV001014401\|RCV001381934;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124732	108124732	11:g.108124732T>G	-
NM_000051.4(ATM):c.2091A>G (p.Leu697=)	472	ATM	Likely benign	2135371070	RCV001412951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124733	108124733	108124733	-
NM_000051.4(ATM):c.2092T>G (p.Ser698Ala)	472	ATM	Uncertain significance	2135371120	RCV002048794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124734	108124734	108124734	-
NM_000051.4(ATM):c.2093C>G (p.Ser698Ter)	472	ATM	Pathogenic	2135371158	RCV001949532;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124735	108124735	108124735	-
NM_000051.4(ATM):c.2093C>T (p.Ser698Leu)	472	ATM	Uncertain significance	-1	RCV002776195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124735	108124735	NC_000011.9:g.108124735C>T	-
NM_000051.4(ATM):c.2094A>C (p.Ser698=)	472	ATM	Likely benign	1344336370	RCV001186626\|RCV001488928;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124736	108124736	11:g.108124736A>C	-
NM_000051.4(ATM):c.2094A>G (p.Ser698=)	472	ATM	Likely benign	1344336370	RCV001479875;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124736	108124736	108124736	-
NM_000051.4(ATM):c.2095G>C (p.Glu699Gln)	472	ATM	Conflicting interpretations of pathogenicity	1060501539	RCV000460079\|RCV000581722\|RCV003153614\|RCV003470413;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124737	108124737	NC_000011.9:g.108124737G>C	ClinGen:CA16613085	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly)	472	ATM	Conflicting interpretations of pathogenicity	147934285	RCV000159606\|RCV000174438\|RCV000204474\|RCV001356430\|RCV002225458;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108124738	108124738	NC_000011.9:g.108124738A>G	ClinGen:CA200987	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2097A>G (p.Glu699=)	472	ATM	Likely benign	777887012	RCV001186649\|RCV001411851;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124739	108124739	11:g.108124739A>G	-
NM_000051.4(ATM):c.2098C>T (p.Gln700Ter)	472	ATM	Pathogenic/Likely pathogenic	786202743	RCV000165710\|RCV000430405\|RCV000525812\|RCV000762816\|RCV003462186;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108124740	108124740	11:g.108124740C>T	ClinGen:CA194043	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2098C>G (p.Gln700Glu)	472	ATM	Uncertain significance	786202743	RCV001301056;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124740	108124740	108124740	-
NM_000051.4(ATM):c.2098C>A (p.Gln700Lys)	472	ATM	Uncertain significance	786202743	RCV001958018;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124740	108124740	108124740	-
NM_000051.4(ATM):c.2102T>C (p.Leu701Pro)	472	ATM	Uncertain significance	-1	RCV002297668;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124744	108124744	108124744	-
NM_000051.4(ATM):c.2104C>G (p.Leu702Val)	472	ATM	Uncertain significance	1555073490	RCV000538552\|RCV000771710\|RCV003151080;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108124746	108124746	11:g.108124746C>G	ClinGen:CA382537696	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2104C>T (p.Leu702=)	472	ATM	Likely benign	1555073490	RCV002185467;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124746	108124746	108124746	-
NM_000051.4(ATM):c.2107A>C (p.Asn703His)	472	ATM	Uncertain significance	2135371578	RCV002045074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124749	108124749	108124749	-
NM_000051.4(ATM):c.2108A>G (p.Asn703Ser)	472	ATM	Uncertain significance	587781304	RCV000129016\|RCV001857435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124750	108124750	11:g.108124750A>G	ClinGen:CA163670	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2111_2114del (p.Asn704fs)	472	ATM	Pathogenic	2080316641	RCV001045108;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124751	108124754	11:g.108124751_108124754del	-
NM_000051.4(ATM):c.2111A>G (p.Asn704Ser)	472	ATM	Uncertain significance	753903558	RCV000527317\|RCV001178340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124753	108124753	11:g.108124753A>G	ClinGen:CA382537734	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2111A>C (p.Asn704Thr)	472	ATM	Uncertain significance	753903558	RCV001014502\|RCV001065858;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124753	108124753	11:g.108124753A>C	-
NM_000051.4(ATM):c.2113del (p.Tyr705fs)	472	ATM	Pathogenic	863224822	RCV000199140\|RCV000584666\|RCV003462344;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124754	108124754	NC_000011.9:g.108124755del	ClinGen:CA338409	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2112T>C (p.Asn704=)	472	ATM	Likely benign	2080317012	RCV001278351;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124754	108124754	11:g.108124754T>C	-
NM_000051.4(ATM):c.2113_2116del (p.Tyr705fs)	472	ATM	Pathogenic	2135371753	RCV001955822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124754	108124757	108124753	-
NM_000051.4(ATM):c.2112T>G (p.Asn704Lys)	472	ATM	Uncertain significance	-1	RCV002304547;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124754	108124754	108124754	-
NM_000051.4(ATM):c.2113T>C (p.Tyr705His)	472	ATM	Uncertain significance	757260641	RCV001014509\|RCV001827186;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124755	108124755	11:g.108124755T>C	-
NM_000051.4(ATM):c.2114dup (p.Tyr705Ter)	472	ATM	Pathogenic	2080317430	RCV001201475;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124755	108124756	11:g.108124755_108124756insA	-
NM_000051.4(ATM):c.2113T>A (p.Tyr705Asn)	472	ATM	Uncertain significance	-1	RCV003073080\|RCV003367984;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124755	108124755	NC_000011.9:g.108124755T>A	-
NM_000051.4(ATM):c.2114A>G (p.Tyr705Cys)	472	ATM	Uncertain significance	-1	RCV003007597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124756	108124756	NC_000011.9:g.108124756A>G	-
NM_000051.4(ATM):c.2115C>T (p.Tyr705=)	472	ATM	Likely benign	876659149	RCV000218925\|RCV000988664\|RCV001174580;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108124757	108124757	11:g.108124757C>T	ClinGen:CA10579038	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2115C>G (p.Tyr705Ter)	472	ATM	Pathogenic/Likely pathogenic	876659149	RCV000433818\|RCV002418317\|RCV002522504;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124757	108124757	11:g.108124757C>G	ClinGen:CA16606161	CN517202 not provided;
NM_000051.4(ATM):c.2116_2117del (p.Ser706fs)	472	ATM	Pathogenic	1591535064	RCV000823722;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124757	108124758	11:g.108124757_108124758del	-
NM_000051.4(ATM):c.2116T>C (p.Ser706Pro)	472	ATM	Uncertain significance	536609092	RCV000221183\|RCV000702914;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124758	108124758	11:g.108124758T>C	ClinGen:CA10579039	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2116T>G (p.Ser706Ala)	472	ATM	Uncertain significance	536609092	RCV001014313\|RCV001860760;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124758	108124758	11:g.108124758T>G	-
NM_000051.4(ATM):c.2117C>T (p.Ser706Leu)	472	ATM	Uncertain significance	779004090	RCV000165055\|RCV000628152\|RCV002464135;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108124759	108124759	11:g.108124759C>T	ClinGen:CA192403	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2119_2123del (p.Ser707fs)	472	ATM	Pathogenic	1555073529	RCV000497261\|RCV001042340;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124760	108124764	NC_000011.9:g.108124761_108124765del	ClinGen:CA645372904	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2119T>C (p.Ser707Pro)	472	ATM	Benign/Likely benign	4986761	RCV000116422\|RCV000119131\|RCV000128903\|RCV000710664\|RCV003315661;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108124761	108124761	11:g.108124761T>C	ClinGen:CA151917,UniProtKB:Q13315#VAR_010810	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2123A>G (p.Glu708Gly)	472	ATM	Uncertain significance	2080318638	RCV001220750;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124765	108124765	11:g.108124765A>G	-
NM_000051.4(ATM):c.2124G>C (p.Glu708Asp)	472	ATM	Uncertain significance	1468938522	RCV001014536\|RCV001059039;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124766	108124766	11:g.108124766G>C	-
NM_000051.4(ATM):c.2124+1del	472	ATM	Likely pathogenic	2080318979	RCV001043176;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124766	108124766	11:g.108124766_108124766del	-
NM_000051.4(ATM):c.2124+1G>T	472	ATM	Likely pathogenic	1555073553	RCV000522113\|RCV000701337\|RCV002420323;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124767	108124767	11:g.108124767G>T	ClinGen:CA382537818	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2124+1G>A	472	ATM	Likely pathogenic	1555073553	RCV001042407\|RCV002416352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124767	108124767	11:g.108124767G>A	-
NM_000051.4(ATM):c.2124+5G>A	472	ATM	Uncertain significance	1565390942	RCV000780878\|RCV000988665;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124771	108124771	NC_000011.9:g.108124771G>A	-
NM_000051.4(ATM):c.2124+6A>T	472	ATM	Conflicting interpretations of pathogenicity	550998406	RCV000437197\|RCV000457971\|RCV001186650;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108124772	108124772	11:g.108124772A>T	ClinGen:CA6264935	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2124+6A>G	472	ATM	Uncertain significance	550998406	RCV001204754;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124772	108124772	11:g.108124772A>G	-
NM_000051.4(ATM):c.2124+12dup	472	ATM	Benign	769051992	RCV001516185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124772	108124773	108124772	-
NM_000051.4(ATM):c.2124+12del	472	ATM	Benign	769051992	RCV002122956;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124773	108124773	108124772	-
NM_000051.4(ATM):c.2124+9T>A	472	ATM	Likely benign	1591535203	RCV000981601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124775	108124775	11:g.108124775T>A	-
NM_000051.4(ATM):c.2124+19dup	472	ATM	Benign/Likely benign	35211268	RCV000486405\|RCV000579825\|RCV002056750;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124778	108124779	11:g.108124778_108124779insA	ClinGen:CA6264938	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2124+12T>A	472	ATM	Likely benign	61278354	RCV002125909;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124778	108124778	108124778	-
NM_000051.4(ATM):c.2124+13A>T	472	ATM	Likely benign	199648955	RCV000424881\|RCV000580743\|RCV002058881;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124779	108124779	11:g.108124779A>T	ClinGen:CA6264939	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2124+19del	472	ATM	Benign/Likely benign	35211268	RCV000582191\|RCV002060581;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124779	108124779	NC_000011.9:g.108124785del	ClinGen:CA6264937	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2124+16_2124+19del	472	ATM	Likely benign	35211268	RCV002133985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124779	108124782	108124778	-
NM_000051.4(ATM):c.2124+14A>G	472	ATM	Benign/Likely benign	772719886	RCV000583228\|RCV001355811\|RCV002060582;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124780	108124780	11:g.108124780A>G	ClinGen:CA6264940	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2124+16A>G	472	ATM	Likely benign	762709930	RCV001186651\|RCV002068440;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108124782	108124782	11:g.108124782A>G	-
NM_000051.4(ATM):c.2125-48T>C	472	ATM	Likely benign	371067508	RCV000709169\|RCV002465756;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108126894	108126894	11:g.108126894T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2125-19A>C	472	ATM	Likely benign	2080469665	RCV002142310;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126923	108126923	108126923	-
NM_000051.4(ATM):c.2125-15_2125-9del	472	ATM	Likely benign	2135391517	RCV002094899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126924	108126930	108126923	-
NM_000051.4(ATM):c.2125-17T>C	472	ATM	Likely benign	1373576656	RCV000582095\|RCV002060584;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126925	108126925	NC_000011.9:g.108126925T>C	ClinGen:CA658683732	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2125-16T>C	472	ATM	Likely benign	1057523016	RCV000423202\|RCV002522426;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126926	108126926	11:g.108126926T>C	ClinGen:CA16606035	CN169374 not specified;
NM_000051.4(ATM):c.2125-15_2128del	472	ATM	Likely pathogenic	1064792940	RCV000463540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126927	108126945	NC_000011.9:g.108126927_108126945del	ClinGen:CA16613363
NM_000051.4(ATM):c.2125-15G>T	472	ATM	Likely benign	-1	RCV002856993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126927	108126927	NC_000011.9:g.108126927G>T	-
NM_000051.4(ATM):c.2125-12del	472	ATM	Likely benign	1555074807	RCV000584681\|RCV001672881\|RCV002060583;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126929	108126929	NC_000011.9:g.108126930del	ClinGen:CA658683733	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2125-12G>A	472	ATM	Likely benign	2135391706	RCV002163183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126930	108126930	108126930	-
NM_000051.4(ATM):c.2125-7_2125-3del	472	ATM	Conflicting interpretations of pathogenicity	1060504272	RCV000474738\|RCV000580433;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126931	108126935	NC_000011.9:g.108126935_108126939del	ClinGen:CA16613275	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2125-11T>A	472	ATM	Conflicting interpretations of pathogenicity	1054208254	RCV001184837\|RCV001550641\|RCV002068394;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126931	108126931	11:g.108126931T>A	-
NC_000011.10:g.(?_108256205)_(108365508_?)dup	472	ATM	Uncertain significance	-1	RCV001033743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126932	108236235	-1	-
NC_000011.9:g.(?_108126932)_(108129812_?)del	472	ATM	Uncertain significance	-1	RCV002018063;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126932	108129812	-1	-
NM_000051.4(ATM):c.2125-9T>C	472	ATM	Likely benign	2135391794	RCV002094900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126933	108126933	108126933	-
NM_000051.4(ATM):c.2125-7C>A	472	ATM	Likely benign	2135391832	RCV002075803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126935	108126935	108126935	-
NM_000051.4(ATM):c.2125-4dup	472	ATM	Likely benign	2135391852	RCV002142257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126935	108126936	108126935	-
NC_000011.9:g.(?_108126936)_(108129808_?)dup	472	ATM	Uncertain significance	-1	RCV000526553;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126936	108129808		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108126936)_(108236241_?)dup	472	ATM	Uncertain significance	-1	RCV000708385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126936	108236241		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2125-5T>G	472	ATM	Uncertain significance	2080471238	RCV001053627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126937	108126937	11:g.108126937T>G	-
NM_000051.4(ATM):c.2125-2_2128del	472	ATM	Likely pathogenic	2135391894	RCV002041574;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126937	108126942	108126936	-
NM_000051.4(ATM):c.2125-4T>C	472	ATM	Conflicting interpretations of pathogenicity	1064795623	RCV000480304\|RCV000567682\|RCV001042707;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126938	108126938	11:g.108126938T>C	ClinGen:CA16619133	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2125-2A>C	472	ATM	Likely pathogenic	1565394403	RCV000687112;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126940	108126940	NC_000011.9:g.108126940A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2125-1G>A	472	ATM	Likely pathogenic	1402299151	RCV000667016;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126941	108126941	11:g.108126941G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2125A>G (p.Ile709Val)	472	ATM	Uncertain significance	864622259	RCV000204432\|RCV000780879\|RCV001180108\|RCV001778793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108126942	108126942	NC_000011.9:g.108126942A>G	ClinGen:CA348661	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2125A>T (p.Ile709Phe)	472	ATM	Uncertain significance	864622259	RCV000235738\|RCV001014539\|RCV001313734;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126942	108126942	NC_000011.9:g.108126942A>T	ClinGen:CA10584329	CN169374 not specified;
NM_000051.4(ATM):c.2125del (p.Ile709fs)	472	ATM	Pathogenic/Likely pathogenic	1057517248	RCV000412308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126942	108126942	NC_000011.9:g.108126942del	ClinGen:CA16041388	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2125A>C (p.Ile709Leu)	472	ATM	Uncertain significance	864622259	RCV001065057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126942	108126942	11:g.108126942A>C	-
NM_000051.4(ATM):c.2126T>A (p.Ile709Asn)	472	ATM	Uncertain significance	2135392028	RCV001915785;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126943	108126943	108126943	-
NM_000051.4(ATM):c.2127T>C (p.Ile709=)	472	ATM	Benign/Likely benign	56252953	RCV000122831\|RCV000123727\|RCV000211973\|RCV003149831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:CN221562	11	108126944	108126944	NC_000011.9:g.108126944T>C	ClinGen:CA289544	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2127T>G (p.Ile709Met)	472	ATM	Conflicting interpretations of pathogenicity	56252953	RCV000206792\|RCV000222064\|RCV002243888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108126944	108126944	NC_000011.9:g.108126944T>G	ClinGen:CA350788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2128A>G (p.Thr710Ala)	472	ATM	Uncertain significance	750506930	RCV001014548\|RCV001203652;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126945	108126945	11:g.108126945A>G	-
NM_000051.4(ATM):c.2131_2136dup (p.Ser712_Glu713insAsnSer)	472	ATM	Uncertain significance	-1	RCV002851226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126945	108126946	NC_000011.9:g.108126948_108126953dup	-
NM_000051.4(ATM):c.2129C>A (p.Thr710Lys)	472	ATM	Uncertain significance	1565394456	RCV000706609\|RCV002422610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126946	108126946	NC_000011.9:g.108126946C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2131A>G (p.Asn711Asp)	472	ATM	Uncertain significance	587781654	RCV000129789\|RCV000688954;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126948	108126948	11:g.108126948A>G	ClinGen:CA165093	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2134del (p.Ser712fs)	472	ATM	Pathogenic	1591541888	RCV000794379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126950	108126950	11:g.108126950_108126950del	-
NM_000051.4(ATM):c.2134T>G (p.Ser712Ala)	472	ATM	Uncertain significance	1565394509	RCV000709170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126951	108126951	NC_000011.9:g.108126951T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2134T>A (p.Ser712Thr)	472	ATM	Uncertain significance	1565394509	RCV001226941\|RCV002418785;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126951	108126951	11:g.108126951T>A	-
NM_000051.4(ATM):c.2134T>C (p.Ser712Pro)	472	ATM	Uncertain significance	-1	RCV003038674\|RCV003274157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126951	108126951	NC_000011.9:g.108126951T>C	-
NM_000051.4(ATM):c.2135C>G (p.Ser712Ter)	472	ATM	Pathogenic/Likely pathogenic	1057516620	RCV000412348\|RCV002418228;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126952	108126952	NC_000011.9:g.108126952C>G	ClinGen:CA16041389	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2135C>T (p.Ser712Leu)	472	ATM	Uncertain significance	1057516620	RCV001052391;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126952	108126952	11:g.108126952C>T	-
NM_000051.4(ATM):c.2140del (p.Thr714fs)	472	ATM	Pathogenic/Likely pathogenic	2080473458	RCV001043381\|RCV003160305\|RCV003363062;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126955	108126955	11:g.108126955_108126955del	-
NM_000051.4(ATM):c.2139A>G (p.Glu713=)	472	ATM	Likely benign	2080473610	RCV001470734;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126956	108126956	108126956	-
NM_000051.4(ATM):c.2140A>G (p.Thr714Ala)	472	ATM	Uncertain significance	2080473704	RCV001326809\|RCV002431932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126957	108126957	108126957	-
NM_000051.4(ATM):c.2141C>T (p.Thr714Ile)	472	ATM	Uncertain significance	1555074846	RCV000569489\|RCV000816814;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126958	108126958	11:g.108126958C>T	ClinGen:CA382538703	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2141C>G (p.Thr714Ser)	472	ATM	Uncertain significance	1555074846	RCV001229552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126958	108126958	11:g.108126958C>G	-
NM_000051.4(ATM):c.2141C>A (p.Thr714Asn)	472	ATM	Uncertain significance	-1	RCV003030296;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126958	108126958	NC_000011.9:g.108126958C>A	-
NM_000051.4(ATM):c.2143C>G (p.Leu715Val)	472	ATM	Uncertain significance	758864982	RCV001186652\|RCV001369790;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126960	108126960	11:g.108126960C>G	-
NM_000051.4(ATM):c.2144T>C (p.Leu715Pro)	472	ATM	Uncertain significance	1555074855	RCV000539773\|RCV000579664;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126961	108126961	11:g.108126961T>C	ClinGen:CA382538710	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2144T>G (p.Leu715Arg)	472	ATM	Uncertain significance	1555074855	RCV001900547;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126961	108126961	108126961	-
NM_000051.4(ATM):c.2145T>G (p.Leu715=)	472	ATM	Likely benign	2080474170	RCV001392379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126962	108126962	108126962	-
NM_000051.4(ATM):c.2147T>G (p.Val716Gly)	472	ATM	Uncertain significance	864622294	RCV000205902;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126964	108126964	NC_000011.9:g.108126964T>G	ClinGen:CA350003	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2147T>A (p.Val716Asp)	472	ATM	Conflicting interpretations of pathogenicity	864622294	RCV000255958\|RCV002521852\|RCV002429195;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126964	108126964	11:g.108126964T>A	ClinGen:CA10588493	CN517202 not provided;
NM_000051.4(ATM):c.2148C>G (p.Val716=)	472	ATM	Benign/Likely benign	1800701	RCV000164522\|RCV000464348\|RCV001610472\|RCV001818375;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108126965	108126965	11:g.108126965C>G	ClinGen:CA191167	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2149C>T (p.Arg717Trp)	472	ATM	Uncertain significance	147515380	RCV000129107\|RCV000457240\|RCV000586332\|RCV001030521\|RCV002228638\|RCV003237338;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C03461	11	108126966	108126966	11:g.108126966C>T	ClinGen:CA163812	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2149C>A (p.Arg717=)	472	ATM	Conflicting interpretations of pathogenicity	147515380	RCV001014579\|RCV001044581;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126966	108126966	11:g.108126966C>A	-
NM_000051.4(ATM):c.2150G>A (p.Arg717Gln)	472	ATM	Uncertain significance	768874297	RCV000485077\|RCV000573560\|RCV000628158\|RCV001821396\|RCV002489158\|RCV003315430;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108126967	108126967	11:g.108126967G>A	ClinGen:CA6264956	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2150G>C (p.Arg717Pro)	472	ATM	Uncertain significance	768874297	RCV000479906\|RCV000555903\|RCV000571648\|RCV000779768\|RCV002489159\|RCV003470559;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108126967	108126967	11:g.108126967G>C	ClinGen:CA6264957	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2151G>C (p.Arg717=)	472	ATM	Likely benign	1331738032	RCV000581454\|RCV001498415;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126968	108126968	NC_000011.9:g.108126968G>C	ClinGen:CA476672496	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2152dup (p.Cys718fs)	472	ATM	Pathogenic	2135392702	RCV001647164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126968	108126969	108126968	-
NM_000051.4(ATM):c.2156C>T (p.Ser719Leu)	472	ATM	Uncertain significance	2080475075	RCV001227784\|RCV003353228;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126973	108126973	11:g.108126973C>T	-
NM_000051.4(ATM):c.2157A>G (p.Ser719=)	472	ATM	Likely benign	1591542014	RCV001014617\|RCV002068890;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126974	108126974	11:g.108126974A>G	-
NM_000051.4(ATM):c.2158C>T (p.Arg720Cys)	472	ATM	Uncertain significance	565622131	RCV000462183\|RCV000481591\|RCV000566565\|RCV001355032\|RCV003470414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108126975	108126975	NC_000011.9:g.108126975C>T	ClinGen:CA6264959	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2158C>A (p.Arg720Ser)	472	ATM	Conflicting interpretations of pathogenicity	565622131	RCV000773565\|RCV001345041;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126975	108126975	NC_000011.9:g.108126975C>A	-
NM_000051.4(ATM):c.2159G>A (p.Arg720His)	472	ATM	Uncertain significance	55830714	RCV000159689\|RCV000205354\|RCV000211974\|RCV001030522\|RCV001174912\|RCV001798544\|RCV003390856;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MedGen:CN221562\|	11	108126976	108126976	NC_000011.9:g.108126976G>A	ClinGen:CA298156	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2159G>C (p.Arg720Pro)	472	ATM	Uncertain significance	55830714	RCV001065447\|RCV002429715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126976	108126976	11:g.108126976G>C	-
NM_000051.4(ATM):c.2165dup (p.Leu722fs)	472	ATM	Pathogenic/Likely pathogenic	1057516393	RCV000409458\|RCV002429336\|RCV003137983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108126978	108126979	NC_000011.9:g.108126982dup	ClinGen:CA16041390	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2162T>C (p.Leu721Pro)	472	ATM	Uncertain significance	2080475582	RCV001042034;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126979	108126979	11:g.108126979T>C	-
NM_000051.4(ATM):c.2162T>G (p.Leu721Arg)	472	ATM	Uncertain significance	2080475582	RCV001924496;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126979	108126979	108126979	-
NM_000051.4(ATM):c.2163T>C (p.Leu721=)	472	ATM	Likely benign	1591542057	RCV001014652\|RCV001413178;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126980	108126980	11:g.108126980T>C	-
NM_000051.4(ATM):c.2164T>C (p.Leu722=)	472	ATM	Likely benign	-1	RCV002786534;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126981	108126981		-
NM_000051.4(ATM):c.2167G>T (p.Val723Leu)	472	ATM	Uncertain significance	1419404231	RCV000527386\|RCV001805139;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126984	108126984	11:g.108126984G>T	ClinGen:CA382538786	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2167G>A (p.Val723Met)	472	ATM	Uncertain significance	-1	RCV003031387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126984	108126984	NC_000011.9:g.108126984G>A	-
NM_000051.4(ATM):c.2168T>C (p.Val723Ala)	472	ATM	Uncertain significance	745399310	RCV000219677\|RCV000540124\|RCV001193036\|RCV001589157\|RCV003153510;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108126985	108126985	11:g.108126985T>C	ClinGen:CA6264960	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2169G>T (p.Val723=)	472	ATM	Likely benign	878853491	RCV000226153\|RCV000562952;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126986	108126986	NC_000011.9:g.108126986G>T	ClinGen:CA10582800	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2170G>A (p.Gly724Ser)	472	ATM	Uncertain significance	887317346	RCV000552619\|RCV000588042\|RCV000566119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126987	108126987	NC_000011.9:g.108126987G>A	ClinGen:CA228397341	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2171G>A (p.Gly724Asp)	472	ATM	Uncertain significance	1555074904	RCV000562139\|RCV001835854;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126988	108126988	11:g.108126988G>A	ClinGen:CA382538803	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2172T>C (p.Gly724=)	472	ATM	Likely benign	1591542120	RCV001400197;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126989	108126989	11:g.108126989T>C	-
NM_000051.4(ATM):c.2172T>G (p.Gly724=)	472	ATM	Likely benign	1591542120	RCV002166097;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126989	108126989	108126989	-
NM_000051.4(ATM):c.2173G>A (p.Val725Ile)	472	ATM	Uncertain significance	1272918725	RCV002031923\|RCV002427517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108126990	108126990	108126990	-
NM_000051.4(ATM):c.2174T>A (p.Val725Asp)	472	ATM	Uncertain significance	1565394761	RCV000688146;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126991	108126991	11:g.108126991T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2175C>T (p.Val725=)	472	ATM	Likely benign	140110298	RCV000573927\|RCV000476367\|RCV001720079\|RCV001821166;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108126992	108126992	11:g.108126992C>T	ClinGen:CA6264962	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2176C>A (p.Leu726Ile)	472	ATM	Uncertain significance	775266056	RCV001037899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126993	108126993	11:g.108126993C>A	-
NM_000051.4(ATM):c.2176C>G (p.Leu726Val)	472	ATM	Uncertain significance	775266056	RCV001870612;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126993	108126993	108126993	-
NM_000051.4(ATM):c.2179G>A (p.Gly727Ser)	472	ATM	Uncertain significance	2080477463	RCV001068774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126996	108126996	11:g.108126996G>A	-
NM_000051.4(ATM):c.2180G>A (p.Gly727Asp)	472	ATM	Uncertain significance	1446080226	RCV001227959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126997	108126997	11:g.108126997G>A	-
NM_000051.4(ATM):c.2180G>T (p.Gly727Val)	472	ATM	Uncertain significance	1446080226	RCV001909586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126997	108126997	108126997	-
NM_000051.4(ATM):c.2181C>T (p.Gly727=)	472	ATM	Likely benign	876658836	RCV000213835\|RCV000761804\|RCV001087488;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126998	108126998	11:g.108126998C>T	ClinGen:CA10579041	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2181C>G (p.Gly727=)	472	ATM	Likely benign	876658836	RCV001014711\|RCV001443699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126998	108126998	11:g.108126998C>G	-
NM_000051.4(ATM):c.2182T>A (p.Cys728Ser)	472	ATM	Uncertain significance	1565394820	RCV000709171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108126999	108126999	NC_000011.9:g.108126999T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2184C>T (p.Cys728=)	472	ATM	Likely benign	1555074933	RCV000628241;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127001	108127001	11:g.108127001C>T	ClinGen:CA476672522	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2185T>C (p.Tyr729His)	472	ATM	Uncertain significance	1190793955	RCV001340121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127002	108127002	108127002	-
NM_000051.4(ATM):c.2186A>G (p.Tyr729Cys)	472	ATM	Uncertain significance	1555074940	RCV000566556\|RCV001865700;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127003	108127003	11:g.108127003A>G	ClinGen:CA382538866	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2187C>T (p.Tyr729=)	472	ATM	Benign/Likely benign	373430058	RCV000205184\|RCV000219978\|RCV000444310;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108127004	108127004	NC_000011.9:g.108127004C>T	ClinGen:CA349368	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2189G>A (p.Cys730Tyr)	472	ATM	Uncertain significance	587781595	RCV000129658\|RCV000167916\|RCV000515399\|RCV003387507\|RCV003422022;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108127006	108127006	11:g.108127006G>A	ClinGen:CA164885	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2190T>C (p.Cys730=)	472	ATM	Likely benign	876659949	RCV000217931\|RCV000459456;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127007	108127007	11:g.108127007T>C	ClinGen:CA10579042	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2192dup (p.Tyr731Ter)	472	ATM	Pathogenic/Likely pathogenic	1478081526	RCV000780925\|RCV001014686\|RCV003472316;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108127008	108127009	NC_000011.9:g.108127009dup	-
NM_000051.4(ATM):c.2192A>T (p.Tyr731Phe)	472	ATM	Uncertain significance	730881345	RCV000159690\|RCV000462835\|RCV000568629\|RCV001355000\|RCV003467226;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089\|MONDO:MONDO:0016419,MedGen:	11	108127009	108127009	NC_000011.9:g.108127009A>T	ClinGen:CA298159	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2193C>T (p.Tyr731=)	472	ATM	Benign/Likely benign	2229019	RCV000128878\|RCV000206183\|RCV000679102\|RCV000710665\|RCV001354816\|RCV002225412\|RCV003149877\|RCV003315858;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108127010	108127010	11:g.108127010C>T	ClinGen:CA163509	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2193C>A (p.Tyr731Ter)	472	ATM	Pathogenic	2229019	RCV000533402\|RCV002431494\|RCV003476225;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108127010	108127010	11:g.108127010C>A	ClinGen:CA382538927	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2193del (p.Cys730_Tyr731insTer)	472	ATM	Pathogenic	2080479088	RCV001214363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127010	108127010	11:g.108127010_108127010del	-
NM_000051.4(ATM):c.2195dup (p.Met732fs)	472	ATM	Pathogenic	1555074971	RCV000582463\|RCV002529181;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127011	108127012	11:g.108127011_108127012insT	ClinGen:CA658683735	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2194A>G (p.Met732Val)	472	ATM	Conflicting interpretations of pathogenicity	1415360560	RCV000799669\|RCV001189760\|RCV001662827\|RCV003230594;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108127011	108127011	11:g.108127011A>G	-
NM_000051.4(ATM):c.2195T>C (p.Met732Thr)	472	ATM	Uncertain significance	-1	RCV002828484;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127012	108127012	NC_000011.9:g.108127012T>C	-
NM_000051.4(ATM):c.2196G>A (p.Met732Ile)	472	ATM	Uncertain significance	2135393803	RCV001902436;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127013	108127013	108127013	-
NM_000051.4(ATM):c.2200_2204dup (p.Ile735delinsMetTer)	472	ATM	Pathogenic/Likely pathogenic	1555074976	RCV000480351\|RCV002307517\|RCV002525863\|RCV003464017;	N	MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108127015	108127016	NC_000011.9:g.108127017_108127021dup	ClinGen:CA16619135	CN517202 not provided;
NM_000051.4(ATM):c.2199T>C (p.Gly733=)	472	ATM	Likely benign	1591542359	RCV001456649\|RCV002432269;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127016	108127016	108127016	-
NM_000051.4(ATM):c.2200dup (p.Val734fs)	472	ATM	Pathogenic	-1	RCV003036365;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127016	108127017	NC_000011.9:g.108127017dup	-
NM_000051.4(ATM):c.2200G>A (p.Val734Ile)	472	ATM	Uncertain significance	1390127104	RCV001373078;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127017	108127017	108127017	-
NM_000051.4(ATM):c.2201_2202insC (p.Ile735fs)	472	ATM	Pathogenic	1459299108	RCV000628186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127018	108127019	NC_000011.9:g.108127018_108127019insC	ClinGen:CA601696182	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2204T>C (p.Ile735Thr)	472	ATM	Uncertain significance	1565395012	RCV000702820\|RCV001805816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127021	108127021	NC_000011.9:g.108127021T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2205_2208del (p.Ile735fs)	472	ATM	Pathogenic	2135394014	RCV001914267;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127021	108127024	108127020	-
NM_000051.4(ATM):c.2205A>G (p.Ile735Met)	472	ATM	Uncertain significance	2135394034	RCV001994047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127022	108127022	108127022	-
NM_000051.4(ATM):c.2206G>A (p.Ala736Thr)	472	ATM	Uncertain significance	2080480637	RCV001220189;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127023	108127023	11:g.108127023G>A	-
NM_000051.4(ATM):c.2207C>T (p.Ala736Val)	472	ATM	Uncertain significance	587780617	RCV000122832\|RCV000777661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127024	108127024	NC_000011.9:g.108127024C>T	ClinGen:CA332324	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2207C>G (p.Ala736Gly)	472	ATM	Uncertain significance	-1	RCV003007387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127024	108127024	NC_000011.9:g.108127024C>G	-
NM_000051.4(ATM):c.2208T>G (p.Ala736=)	472	ATM	Likely benign	761874856	RCV001427329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127025	108127025	11:g.108127025T>G	ClinGen:CA10582801	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2208T>C (p.Ala736=)	472	ATM	Likely benign	761874856	RCV000546152\|RCV001014733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127025	108127025	NC_000011.9:g.108127025T>C	ClinGen:CA6264964	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2209G>A (p.Glu737Lys)	472	ATM	Uncertain significance	2135394119	RCV001969703;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127026	108127026	108127026	-
NM_000051.4(ATM):c.2210A>G (p.Glu737Gly)	472	ATM	Uncertain significance	-1	RCV002301116;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127027	108127027	108127027	-
NM_000051.4(ATM):c.2214G>A (p.Glu738=)	472	ATM	Likely benign	1565395061	RCV000777445\|RCV001500346;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127031	108127031	NC_000011.9:g.108127031G>A	-
NM_000051.4(ATM):c.2215G>A (p.Glu739Lys)	472	ATM	Uncertain significance	1565395076	RCV000685767\|RCV000776887\|RCV001580536;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108127032	108127032	NC_000011.9:g.108127032G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2218G>A (p.Ala740Thr)	472	ATM	Uncertain significance	786201866	RCV000164365\|RCV000462639;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127035	108127035	11:g.108127035G>A	ClinGen:CA190780	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2218G>C (p.Ala740Pro)	472	ATM	Uncertain significance	786201866	RCV000580551\|RCV002529083;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127035	108127035	NC_000011.9:g.108127035G>C	ClinGen:CA382539104	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2220A>G (p.Ala740=)	472	ATM	Conflicting interpretations of pathogenicity	56353517	RCV000163515\|RCV000232692\|RCV001192849\|RCV001356556\|RCV001711329\|RCV003315999;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108127037	108127037	11:g.108127037A>G	ClinGen:CA188498	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2220A>T (p.Ala740=)	472	ATM	Likely benign	56353517	RCV001402109;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127037	108127037	108127037	-
NM_000051.4(ATM):c.2222A>G (p.Tyr741Cys)	472	ATM	Conflicting interpretations of pathogenicity	878853492	RCV000226596\|RCV000572488\|RCV000589621\|RCV003469123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108127039	108127039	11:g.108127039A>G	ClinGen:CA10582802	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2222A>C (p.Tyr741Ser)	472	ATM	Uncertain significance	878853492	RCV000791970\|RCV001014845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127039	108127039	11:g.108127039A>C	-
NM_000051.4(ATM):c.2222A>T (p.Tyr741Phe)	472	ATM	Uncertain significance	878853492	RCV001185435\|RCV001862913;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127039	108127039	11:g.108127039A>T	-
NM_000051.4(ATM):c.2223T>C (p.Tyr741=)	472	ATM	Likely benign	1057524111	RCV000426623\|RCV000494681\|RCV000870080;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127040	108127040	11:g.108127040T>C	ClinGen:CA16606162	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2223T>G (p.Tyr741Ter)	472	ATM	Pathogenic	1057524111	RCV001235366\|RCV002430007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127040	108127040	11:g.108127040T>G	-
NM_000051.4(ATM):c.2225A>C (p.Lys742Thr)	472	ATM	Uncertain significance	2135394428	RCV001593776\|RCV001882724\|RCV002425007;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127042	108127042	108127042	-
NM_000051.4(ATM):c.2226G>C (p.Lys742Asn)	472	ATM	Uncertain significance	2080482083	RCV001309283\|RCV003399086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108127043	108127043	108127043	-
NM_000051.4(ATM):c.2228C>G (p.Ser743Ter)	472	ATM	Pathogenic	2080482247	RCV001203270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127045	108127045	11:g.108127045C>G	-
NM_000051.4(ATM):c.2229A>G (p.Ser743=)	472	ATM	Likely benign	758453118	RCV000777662\|RCV000981415;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127046	108127046	NC_000011.9:g.108127046A>G	-
NM_000051.4(ATM):c.2232A>T (p.Glu744Asp)	472	ATM	Uncertain significance	2080482588	RCV001226219;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127049	108127049	11:g.108127049A>T	-
NM_000051.4(ATM):c.2232A>G (p.Glu744=)	472	ATM	Likely benign	2080482588	RCV002205123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127049	108127049	108127049	-
NM_000051.4(ATM):c.2233T>C (p.Leu745=)	472	ATM	Likely benign	1293287271	RCV000564093\|RCV002060452\|RCV003330803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108127050	108127050	11:g.108127050T>C	ClinGen:CA476672543	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2236T>C (p.Phe746Leu)	472	ATM	Uncertain significance	1017383703	RCV000804712\|RCV002424867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127053	108127053	11:g.108127053T>C	-
NM_000051.4(ATM):c.2238C>T (p.Phe746=)	472	ATM	Likely benign	786203595	RCV000166976\|RCV000205634\|RCV000439986\|RCV001721084;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108127055	108127055	11:g.108127055C>T	ClinGen:CA197170	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2239C>T (p.Gln747Ter)	472	ATM	Pathogenic/Likely pathogenic	2080483369	RCV001060448\|RCV002256672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127056	108127056	11:g.108127056C>T	-
NM_000051.4(ATM):c.2244A>T (p.Lys748Asn)	472	ATM	Uncertain significance	1591542559	RCV000804968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127061	108127061	11:g.108127061A>T	-
NM_000051.4(ATM):c.2244A>G (p.Lys748=)	472	ATM	Likely benign	1591542559	RCV001465120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127061	108127061	108127061	-
NM_000051.4(ATM):c.2245G>A (p.Ala749Thr)	472	ATM	Uncertain significance	876660163	RCV000223588\|RCV001853613;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127062	108127062	11:g.108127062G>A	ClinGen:CA10579043	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2245G>C (p.Ala749Pro)	472	ATM	Uncertain significance	876660163	RCV002017303\|RCV003365641;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127062	108127062	108127062	-
NM_000051.4(ATM):c.2246C>G (p.Ala749Gly)	472	ATM	Uncertain significance	867443346	RCV001047077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127063	108127063	11:g.108127063C>G	-
NM_000051.4(ATM):c.2247del (p.Lys750fs)	472	ATM	Pathogenic	-1	RCV002889993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127063	108127063	NC_000011.9:g.108127064del	-
NM_000051.4(ATM):c.2247C>T (p.Ala749=)	472	ATM	Likely benign	-1	RCV002876280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127064	108127064		-
NM_000051.4(ATM):c.2248A>G (p.Lys750Glu)	472	ATM	Uncertain significance	2080484145	RCV001176986\|RCV001303687\|RCV001529268;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108127065	108127065	11:g.108127065A>G	-
NM_000051.4(ATM):c.2249A>C (p.Lys750Thr)	472	ATM	Uncertain significance	1060501540	RCV000466898\|RCV001014919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108127066	108127066	NC_000011.9:g.108127066A>C	ClinGen:CA16613086	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2250G>A (p.Lys750=)	472	ATM	Pathogenic/Likely pathogenic	1137887	RCV000003185\|RCV000115149\|RCV000235101\|RCV000762817\|RCV001171385\|RCV001354985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108127067	108127067	NC_000011.9:g.108127067G>A	ClinGen:CA286741,OMIM:607585.0027	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2250G>C (p.Lys750Asn)	472	ATM	Uncertain significance	1137887	RCV001889736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127067	108127067	108127067	-
NM_000051.4(ATM):c.2250+1G>A	472	ATM	Pathogenic/Likely pathogenic	1565395193	RCV000702192\|RCV003403629;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108127068	108127068	NC_000011.9:g.108127068G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2250+2T>C	472	ATM	Pathogenic/Likely pathogenic	1555075037	RCV000572322\|RCV000821503\|RCV003470805;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108127069	108127069	11:g.108127069T>C	ClinGen:CA382539329	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2250+3A>G	472	ATM	Uncertain significance	2080484745	RCV001069956;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127070	108127070	11:g.108127070A>G	-
NM_000051.4(ATM):c.2250+5G>C	472	ATM	Uncertain significance	1555075047	RCV001232609;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127072	108127072	11:g.108127072G>C	-
NM_000051.4(ATM):c.2250+7G>A	472	ATM	Likely benign	752009031	RCV000229375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127074	108127074	11:g.108127074G>A	ClinGen:CA10582803	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2250+7G>T	472	ATM	Likely benign	752009031	RCV000890624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127074	108127074	11:g.108127074G>T	-
NM_000051.4(ATM):c.2250+8A>T	472	ATM	Likely benign	1555075054	RCV000582718\|RCV002060586;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127075	108127075	11:g.108127075A>T	ClinGen:CA658683736	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2250+9A>G	472	ATM	Likely benign	755569951	RCV000583725\|RCV001486312;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127076	108127076	11:g.108127076A>G	ClinGen:CA6264969	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2250+9A>C	472	ATM	Likely benign	755569951	RCV002159660;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127076	108127076	108127076	-
NM_000051.4(ATM):c.2250+15A>G	472	ATM	Likely benign	1057523706	RCV000438610\|RCV002063520;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127082	108127082	11:g.108127082A>G	ClinGen:CA16606787	CN169374 not specified;
NM_000051.4(ATM):c.2250+15A>C	472	ATM	Likely benign	1057523706	RCV002156812;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127082	108127082	108127082	-
NM_000051.4(ATM):c.2250+16C>G	472	ATM	Likely benign	2135395339	RCV002162134\|RCV003321899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108127083	108127083	108127083	-
NM_000051.4(ATM):c.2250+16C>T	472	ATM	Likely benign	-1	RCV002701364;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127083	108127083	NC_000011.9:g.108127083C>T	-
NM_000051.4(ATM):c.2250+18A>G	472	ATM	Benign/Likely benign	895190150	RCV001183825\|RCV001664738\|RCV002068366;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127085	108127085	11:g.108127085A>G	-
NM_000051.4(ATM):c.2250+20T>C	472	ATM	Benign/Likely benign	377570109	RCV000771772\|RCV001712749\|RCV002061059;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127087	108127087	NC_000011.9:g.108127087T>C	-
NM_000051.4(ATM):c.2250+20T>A	472	ATM	Likely benign	377570109	RCV002199545;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108127087	108127087	108127087	-
NM_000051.4(ATM):c.2250+22A>C	472	ATM	Benign/Likely benign	3218692	RCV000988666\|RCV001796339\|RCV001664591\|RCV002225773;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108127089	108127089	11:g.108127089A>C	-
NM_000051.4(ATM):c.2250+34A>C	472	ATM	Benign/Likely benign	3218705	RCV000988667\|RCV001664592\|RCV002225774\|RCV002465815;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108127101	108127101	11:g.108127101A>C	-
NM_000051.4(ATM):c.2251-19T>C	472	ATM	Likely benign	370713089	RCV000237010\|RCV000776103\|RCV002057251;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128189	108128189	NC_000011.9:g.108128189T>C	ClinGen:CA6264985	CN169374 not specified;
NM_000051.4(ATM):c.2251-15T>C	472	ATM	Likely benign	1565396892	RCV000773463\|RCV002067269;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128193	108128193	NC_000011.9:g.108128193T>C	-
NM_000051.4(ATM):c.2251-14T>A	472	ATM	Conflicting interpretations of pathogenicity	751677125	RCV000359116;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128194	108128194	NC_000011.9:g.108128194T>A	ClinGen:CA6264986	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2251-13C>T	472	ATM	Likely benign	-1	RCV003088168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128195	108128195	NC_000011.9:g.108128195C>T	-
NM_000051.4(ATM):c.2251-11A>G	472	ATM	Likely benign	755369461	RCV001186653\|RCV002067973;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128197	108128197	11:g.108128197A>G	-
NM_000051.4(ATM):c.2251-11A>C	472	ATM	Uncertain significance	-1	RCV002847059;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128197	108128197	NC_000011.9:g.108128197A>C	-
NM_000051.4(ATM):c.2251-10T>G	472	ATM	Conflicting interpretations of pathogenicity	730881346	RCV000159691\|RCV000161929\|RCV000515310\|RCV000580644\|RCV001253609;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Or	11	108128198	108128198	NC_000011.9:g.108128198T>G	ClinGen:CA298162	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108257471)_(108259085_?)del	472	ATM	Uncertain significance	-1	RCV000797484;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128198	108129812		-
NM_000051.4(ATM):c.2251-7A>G	472	ATM	Conflicting interpretations of pathogenicity	879254103	RCV000237040\|RCV001078625;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128201	108128201	NC_000011.9:g.108128201A>G	ClinGen:CA10584330	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2251-4A>G	472	ATM	Conflicting interpretations of pathogenicity	786202935	RCV000166010\|RCV000628167\|RCV000658621\|RCV003462196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128204	108128204	11:g.108128204A>G	ClinGen:CA194765	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2251-3T>C	472	ATM	Uncertain significance	752951518	RCV000582636\|RCV001059458;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128205	108128205	NC_000011.9:g.108128205T>C	ClinGen:CA6264988	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2251-1_2257dup	472	ATM	Uncertain significance	2080573042	RCV001241535;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128205	108128206	11:g.108128205_108128206insAGTCTCTA	-
NM_000051.4(ATM):c.2251-2A>G	472	ATM	Pathogenic	2135405559	RCV001785039;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128206	108128206	108128206	-
NM_000051.4(ATM):c.2251-1G>C	472	ATM	Pathogenic/Likely pathogenic	876659710	RCV000223310\|RCV000464660;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128207	108128207	11:g.108128207G>C	ClinGen:CA10579044	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2251-1G>A	472	ATM	Likely pathogenic	876659710	RCV001178059\|RCV001806034;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128207	108128207	11:g.108128207G>A	-
NM_000051.4(ATM):c.2251T>A (p.Ser751Thr)	472	ATM	Uncertain significance	1064793558	RCV000484178\|RCV001856825;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128208	108128208	11:g.108128208T>A	ClinGen:CA16619136	CN169374 not specified;
NM_000051.4(ATM):c.2254C>G (p.Leu752Val)	472	ATM	Uncertain significance	756522395	RCV000165359\|RCV000709172\|RCV003468742;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128211	108128211	11:g.108128211C>G	ClinGen:CA193182	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2254C>T (p.Leu752=)	472	ATM	Likely benign	756522395	RCV000428622\|RCV000476767\|RCV001014947;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128211	108128211	11:g.108128211C>T	ClinGen:CA16606037	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2255T>C (p.Leu752Pro)	472	ATM	Uncertain significance	2135405669	RCV002046022\|RCV002443057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128212	108128212	108128212	-
NM_000051.4(ATM):c.2258T>C (p.Met753Thr)	472	ATM	Uncertain significance	587781607	RCV000129691\|RCV000482876\|RCV000554034\|RCV000780880;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108128215	108128215	11:g.108128215T>C	ClinGen:CA164930	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2260C>A (p.Gln754Lys)	472	ATM	Uncertain significance	3205809	RCV000130053\|RCV000168206\|RCV000588063\|RCV002307402\|RCV003474757;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128217	108128217	11:g.108128217C>A	ClinGen:CA294147	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2260C>T (p.Gln754Ter)	472	ATM	Pathogenic	-1	RCV002443736\|RCV003101179;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128217	108128217	108128217	-
NM_000051.4(ATM):c.2262del (p.Gln754fs)	472	ATM	Pathogenic	2080573967	RCV001054772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128218	108128218	11:g.108128218_108128218del	-
NM_000051.4(ATM):c.2262A>G (p.Gln754=)	472	ATM	Conflicting interpretations of pathogenicity	778320952	RCV000582538\|RCV000702900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128219	108128219	11:g.108128219A>G	ClinGen:CA6264989	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2263T>C (p.Cys755Arg)	472	ATM	Uncertain significance	1060501646	RCV000476679\|RCV000561089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128220	108128220	NC_000011.9:g.108128220T>C	ClinGen:CA16613278	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2264G>A (p.Cys755Tyr)	472	ATM	Uncertain significance	876660916	RCV000561653\|RCV001057207\|RCV003459276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128221	108128221	NC_000011.9:g.108128221G>A	ClinGen:CA382539586	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2267C>A (p.Ala756Glu)	472	ATM	Uncertain significance	-1	RCV002299079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128224	108128224	108128224	-
NM_000051.4(ATM):c.2268A>G (p.Ala756=)	472	ATM	Likely benign	1057522845	RCV000437283\|RCV001501505\|RCV002446716;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128225	108128225	11:g.108128225A>G	ClinGen:CA16606038	CN169374 not specified;
NM_000051.4(ATM):c.2269G>A (p.Gly757Arg)	472	ATM	Uncertain significance	587779819	RCV000115150\|RCV000211976\|RCV000529196\|RCV002505030\|RCV003330436\|RCV003467021;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108128226	108128226	NC_000011.9:g.108128226G>A	ClinGen:CA286744	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2270del (p.Gly757fs)	472	ATM	Pathogenic	1565397022	RCV000685910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128226	108128226	NC_000011.9:g.108128227del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2270G>T (p.Gly757Val)	472	ATM	Uncertain significance	375091571	RCV001015004\|RCV001873258\|RCV003467621;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128227	108128227	11:g.108128227G>T	-
NM_000051.4(ATM):c.2272G>T (p.Glu758Ter)	472	ATM	Pathogenic	1555075658	RCV000546234\|RCV000562105;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128229	108128229	NC_000011.9:g.108128229G>T	ClinGen:CA382539621	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2275A>G (p.Ser759Gly)	472	ATM	Uncertain significance	148705269	RCV000115151\|RCV000205470\|RCV000515206\|RCV000589762\|RCV001798310\|RCV002469010\|RCV003460800;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108128232	108128232	NC_000011.9:g.108128232A>G	ClinGen:CA286747	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2276G>A (p.Ser759Asn)	472	ATM	Uncertain significance	786202270	RCV000164999\|RCV000521181\|RCV000474605\|RCV003468727;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128233	108128233	11:g.108128233G>A	ClinGen:CA192269	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2278A>G (p.Ile760Val)	472	ATM	Uncertain significance	1555075672	RCV000566409\|RCV001853757;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128235	108128235	11:g.108128235A>G	ClinGen:CA382539658	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2281A>T (p.Thr761Ser)	472	ATM	Conflicting interpretations of pathogenicity	2235011	RCV000122833\|RCV000129351\|RCV000586568\|RCV002223130;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108128238	108128238	NC_000011.9:g.108128238A>T	ClinGen:CA294031,UniProtKB:Q13315#VAR_056679	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2281A>G (p.Thr761Ala)	472	ATM	Uncertain significance	2235011	RCV000218800\|RCV000802874;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128238	108128238	11:g.108128238A>G	ClinGen:CA10579046	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2284_2285del (p.Leu762fs)	472	ATM	Pathogenic/Likely pathogenic	587781658	RCV000129801\|RCV000233154\|RCV000480339\|RCV001354163\|RCV003460902;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128239	108128240	11:g.108128239_108128240del	ClinGen:CA165116	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2282C>G (p.Thr761Ser)	472	ATM	Uncertain significance	-1	RCV002825311;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128239	108128239	NC_000011.9:g.108128239C>G	-
NM_000051.4(ATM):c.2284C>T (p.Leu762=)	472	ATM	Likely benign	876659401	RCV000213926\|RCV000441769\|RCV002515644;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128241	108128241	11:g.108128241C>T	ClinGen:CA10579047	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2284C>G (p.Leu762Val)	472	ATM	Uncertain significance	876659401	RCV000468658\|RCV000571013;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128241	108128241	NC_000011.9:g.108128241C>G	ClinGen:CA16613088	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2286_2287del (p.Leu762_Phe763insTer)	472	ATM	Pathogenic/Likely pathogenic	1064795831	RCV000481298\|RCV000572952\|RCV001219266;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128242	108128243	11:g.108128242_108128243del	ClinGen:CA16619137	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2285T>C (p.Leu762Pro)	472	ATM	Uncertain significance	2080576437	RCV001352353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128242	108128242	108128242	-
NM_000051.4(ATM):c.2289_2295del (p.Phe763fs)	472	ATM	Pathogenic	1555075690	RCV000627985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128245	108128251	11:g.108128245_108128251del	ClinGen:CA658797779	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu)	472	ATM	Conflicting interpretations of pathogenicity	34231402	RCV000115152\|RCV000122834\|RCV000211979\|RCV000515303\|RCV000588896\|RCV001355251\|RCV001798311;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108128246	108128246	NC_000011.9:g.108128246T>A	ClinGen:CA286750	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2290A>C (p.Lys764Gln)	472	ATM	Uncertain significance	-1	RCV002296252;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128247	108128247	108128247	-
NM_000051.4(ATM):c.2291A>G (p.Lys764Arg)	472	ATM	Uncertain significance	2080576982	RCV001349874\|RCV001762600;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108128248	108128248	108128248	-
NM_000051.4(ATM):c.2295del (p.Asn765fs)	472	ATM	Pathogenic/Likely pathogenic	876658583	RCV000222588\|RCV000627988;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128252	108128252	11:g.108128252_108128252del	ClinGen:CA10579048	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2296A>G (p.Lys766Glu)	472	ATM	Uncertain significance	748125666	RCV000561853\|RCV001276181;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128253	108128253	NC_000011.9:g.108128253A>G	ClinGen:CA382539774	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2299A>G (p.Thr767Ala)	472	ATM	Uncertain significance	-1	RCV002297921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128256	108128256	108128256	-
NM_000051.4(ATM):c.2301_2304del (p.Asn768fs)	472	ATM	Pathogenic	1565397179	RCV000688304\|RCV003336135;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128258	108128261	11:g.108128258_108128261del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2303A>G (p.Asn768Ser)	472	ATM	Uncertain significance	2080577809	RCV001185330\|RCV002559900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128260	108128260	11:g.108128260A>G	-
NM_000051.4(ATM):c.2304_2305insTT (p.Glu769fs)	472	ATM	Pathogenic	2080577927	RCV001225897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128260	108128261	11:g.108128260_108128261insTT	-
NM_000051.4(ATM):c.2304T>C (p.Asn768=)	472	ATM	Likely benign	2135406753	RCV001428446;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128261	108128261	108128261	-
NM_000051.4(ATM):c.2305G>A (p.Glu769Lys)	472	ATM	Uncertain significance	1591546453	RCV000815991\|RCV003320217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108128262	108128262	11:g.108128262G>A	-
NM_000051.4(ATM):c.2306A>G (p.Glu769Gly)	472	ATM	Uncertain significance	1377126475	RCV000572248\|RCV001217319;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128263	108128263	11:g.108128263A>G	ClinGen:CA382539840	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2308G>T (p.Glu770Ter)	472	ATM	Pathogenic	1555075721	RCV000558902\|RCV000777264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128265	108128265	11:g.108128265G>T	ClinGen:CA382539851	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2308G>A (p.Glu770Lys)	472	ATM	Uncertain significance	1555075721	RCV001969748;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128265	108128265	108128265	-
NM_000051.4(ATM):c.2314A>G (p.Arg772Gly)	472	ATM	Uncertain significance	1565397219	RCV000702948\|RCV001524995;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128271	108128271	11:g.108128271A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2316A>C (p.Arg772Ser)	472	ATM	Uncertain significance	2135407049	RCV002005443\|RCV002442971;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128273	108128273	108128273	-
NM_000051.4(ATM):c.2317A>C (p.Ile773Leu)	472	ATM	Uncertain significance	876659084	RCV000223003\|RCV000543166;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128274	108128274	11:g.108128274A>C	ClinGen:CA10579049	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2321G>A (p.Gly774Asp)	472	ATM	Uncertain significance	1555075727	RCV000562982\|RCV001049979\|RCV001764657;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108128278	108128278	NC_000011.9:g.108128278G>A	ClinGen:CA382539969	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2321G>T (p.Gly774Val)	472	ATM	Conflicting interpretations of pathogenicity	1555075727	RCV000688006\|RCV000772330;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128278	108128278	NC_000011.9:g.108128278G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2322T>C (p.Gly774=)	472	ATM	Likely benign	769575297	RCV000221497\|RCV000470974\|RCV001288006;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108128279	108128279	11:g.108128279T>C	ClinGen:CA6264993	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2326T>C (p.Leu776=)	472	ATM	Likely benign	762937809	RCV000213591\|RCV001436043;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128283	108128283	11:g.108128283T>C	ClinGen:CA10579050	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2329A>C (p.Arg777=)	472	ATM	Likely benign	1565397263	RCV000777347\|RCV002067355;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128286	108128286	NC_000011.9:g.108128286A>C	-
NM_000051.4(ATM):c.2329A>T (p.Arg777Ter)	472	ATM	Pathogenic	1565397263	RCV001892401;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128286	108128286	108128286	-
NM_000051.4(ATM):c.2330G>A (p.Arg777Lys)	472	ATM	Uncertain significance	876660432	RCV000219255\|RCV001209498;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128287	108128287	11:g.108128287G>A	ClinGen:CA10579051	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2331A>G (p.Arg777=)	472	ATM	Likely benign	1313482346	RCV001475296\|RCV001806197;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128288	108128288	108128288	-
NM_000051.4(ATM):c.2331A>T (p.Arg777Ser)	472	ATM	Uncertain significance	-1	RCV003029068;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128288	108128288	NC_000011.9:g.108128288A>T	-
NM_000051.4(ATM):c.2332A>G (p.Asn778Asp)	472	ATM	Uncertain significance	1555075751	RCV000580122\|RCV001202425;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128289	108128289	11:g.108128289A>G	ClinGen:CA382540060	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2333A>G (p.Asn778Ser)	472	ATM	Uncertain significance	587779820	RCV000115153\|RCV000195938\|RCV000589935;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108128290	108128290	NC_000011.9:g.108128290A>G	ClinGen:CA286753	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2334T>C (p.Asn778=)	472	ATM	Likely benign	1555075758	RCV000534960;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128291	108128291	11:g.108128291T>C	ClinGen:CA476672732	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2335ATG[1] (p.Met780del)	472	ATM	Uncertain significance	1555075763	RCV000565974\|RCV003139873;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128292	108128294	11:g.108128292_108128294del	ClinGen:CA658656211	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2336T>C (p.Met779Thr)	472	ATM	Uncertain significance	587778066	RCV000120122\|RCV000567786\|RCV000627993\|RCV000657076\|RCV003467067;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128293	108128293	11:g.108128293T>C	ClinGen:CA157073	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2338A>T (p.Met780Leu)	472	ATM	Uncertain significance	587781446	RCV000129362\|RCV000560137\|RCV001249848\|RCV001770101;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900	11	108128295	108128295	11:g.108128295A>T	ClinGen:CA164275	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2338A>G (p.Met780Val)	472	ATM	Uncertain significance	587781446	RCV000573729\|RCV001858169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128295	108128295	11:g.108128295A>G	ClinGen:CA382540123	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2341C>T (p.Gln781Ter)	472	ATM	Pathogenic	1555075781	RCV000627907\|RCV002467450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128298	108128298	11:g.108128298C>T	ClinGen:CA382540161	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2343G>A (p.Gln781=)	472	ATM	Likely benign	2135407606	RCV002096084\|RCV002443169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128300	108128300	108128300	-
NM_000051.4(ATM):c.2345dup (p.Cys783fs)	472	ATM	Pathogenic	1591546645	RCV001015242\|RCV001220857;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128301	108128302	11:g.108128301_108128302insT	-
NM_000051.4(ATM):c.2345T>C (p.Leu782Pro)	472	ATM	Uncertain significance	2135407647	RCV001359089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128302	108128302	108128302	-
NM_000051.4(ATM):c.2346A>G (p.Leu782=)	472	ATM	Conflicting interpretations of pathogenicity	730881285	RCV000159608\|RCV000211981\|RCV000727061\|RCV001085827\|RCV001798540;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108128303	108128303	NC_000011.9:g.108128303A>G	ClinGen:CA297990	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2347T>G (p.Cys783Gly)	472	ATM	Uncertain significance	1555075786	RCV000536453;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128304	108128304	NC_000011.9:g.108128304T>G	ClinGen:CA382540225	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2351C>T (p.Thr784Ile)	472	ATM	Uncertain significance	2135407791	RCV001804421\|RCV001885266;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128308	108128308	108128308	-
NM_000051.4(ATM):c.2352A>T (p.Thr784=)	472	ATM	Likely benign	759679953	RCV001015122\|RCV001470650;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128309	108128309	11:g.108128309A>T	-
NM_000051.4(ATM):c.2352A>G (p.Thr784=)	472	ATM	Likely benign	759679953	RCV001432521;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128309	108128309	108128309	-
NM_000051.4(ATM):c.2353C>T (p.Arg785Cys)	472	ATM	Uncertain significance	587778065	RCV000120121\|RCV000223479\|RCV000664826\|RCV001555264\|RCV003460844;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128310	108128310	11:g.108128310C>T	ClinGen:CA157071,UniProtKB:Q13315#VAR_010813	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2354G>A (p.Arg785His)	472	ATM	Uncertain significance	587782128	RCV000130667\|RCV000167917\|RCV000482225\|RCV002298480\|RCV003153421;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128311	108128311	11:g.108128311G>A	ClinGen:CA166861	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2354G>T (p.Arg785Leu)	472	ATM	Uncertain significance	587782128	RCV001224289;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128311	108128311	11:g.108128311G>T	-
NM_000051.4(ATM):c.2355T>C (p.Arg785=)	472	ATM	Likely benign	1555075801	RCV000584288\|RCV000586707\|RCV000941954;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128312	108128312	11:g.108128312T>C	ClinGen:CA476672756	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2356T>C (p.Cys786Arg)	472	ATM	Uncertain significance	1565397441	RCV000701079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128313	108128313	NC_000011.9:g.108128313T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2357G>A (p.Cys786Tyr)	472	ATM	Uncertain significance	-1	RCV002299948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128314	108128314	108128314	-
NM_000051.4(ATM):c.2360T>G (p.Leu787Trp)	472	ATM	Uncertain significance	2135408030	RCV001899656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128317	108128317	108128317	-
NM_000051.4(ATM):c.2361G>T (p.Leu787Phe)	472	ATM	Uncertain significance	2080584367	RCV001216144;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128318	108128318	11:g.108128318G>T	-
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg)	472	ATM	Benign/Likely benign	641252	RCV000115154\|RCV000120120\|RCV000167934\|RCV001355240\|RCV001729388\|RCV001798312;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562	11	108128319	108128319	NC_000011.9:g.108128319A>C	ClinGen:CA151460,UniProtKB:Q13315#VAR_056680	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2362A>G (p.Ser788Gly)	472	ATM	Uncertain significance	641252	RCV001901670;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128319	108128319	108128319	-
NM_000051.4(ATM):c.2363G>A (p.Ser788Asn)	472	ATM	Uncertain significance	1555075809	RCV000628055\|RCV002448917\|RCV003235317\|RCV003317303;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108128320	108128320	11:g.108128320G>A	ClinGen:CA382540329	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2363_2364del (p.Ser788fs)	472	ATM	Pathogenic	2080584788	RCV001046383;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128320	108128321	11:g.108128320_108128321del	-
NM_000051.4(ATM):c.2364C>G (p.Ser788Arg)	472	ATM	Conflicting interpretations of pathogenicity	2135408164	RCV001469056\|RCV003405679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108128321	108128321	108128321	-
NM_000051.4(ATM):c.2364C>T (p.Ser788=)	472	ATM	Likely benign	2135408164	RCV002443136\|RCV002220142;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128321	108128321	108128321	-
NM_000051.4(ATM):c.2366A>G (p.Asn789Ser)	472	ATM	Uncertain significance	1591546766	RCV000812061\|RCV001015299\|RCV001560099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108128323	108128323	11:g.108128323A>G	-
NM_000051.4(ATM):c.2367C>G (p.Asn789Lys)	472	ATM	Uncertain significance	2080585059	RCV001219845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128324	108128324	11:g.108128324C>G	-
NM_000051.4(ATM):c.2367C>T (p.Asn789=)	472	ATM	Likely benign	2080585059	RCV001396052\|RCV002456620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128324	108128324	108128324	-
NM_000051.4(ATM):c.2369G>C (p.Cys790Ser)	472	ATM	Uncertain significance	764538548	RCV000572713\|RCV000705394\|RCV003459271;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128326	108128326	11:g.108128326G>C	ClinGen:CA6264996	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2372C>T (p.Thr791Ile)	472	ATM	Uncertain significance	2135408339	RCV001996034\|RCV003170365;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128329	108128329	108128329	-
NM_000051.4(ATM):c.2373C>T (p.Thr791=)	472	ATM	Likely benign	878853494	RCV000230951\|RCV000561481\|RCV000615637\|RCV001697198;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108128330	108128330	NC_000011.9:g.108128330C>T	ClinGen:CA10582804	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2374A>G (p.Lys792Glu)	472	ATM	Uncertain significance	1423446897	RCV000567265\|RCV001858360\|RCV001662620;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108128331	108128331	NC_000011.9:g.108128331A>G	ClinGen:CA382540403	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2376G>A (p.Lys792=)	472	ATM	Conflicting interpretations of pathogenicity	754267376	RCV001015345\|RCV001873262;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128333	108128333	11:g.108128333G>A	-
NM_000051.4(ATM):c.2376+1G>T	472	ATM	Pathogenic/Likely pathogenic	730881347	RCV000159692\|RCV000568382\|RCV000810067;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128334	108128334	NC_000011.9:g.108128334G>T	ClinGen:CA298163	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2376+1G>C	472	ATM	Likely pathogenic	730881347	RCV000565146\|RCV002528970;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128334	108128334	NC_000011.9:g.108128334G>C	ClinGen:CA382540429	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2376+1G>A	472	ATM	Pathogenic/Likely pathogenic	730881347	RCV000583695\|RCV001224699\|RCV001726253\|RCV003465298;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108128334	108128334	11:g.108128334G>A	ClinGen:CA382540432	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2376+2T>C	472	ATM	Likely pathogenic	2135408476	RCV002006385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128335	108128335	108128335	-
NM_000051.4(ATM):c.2376+2T>G	472	ATM	Likely pathogenic	-1	RCV003035421;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128335	108128335	NC_000011.9:g.108128335T>G	-
NM_000051.4(ATM):c.2376+3A>T	472	ATM	Conflicting interpretations of pathogenicity	758083563	RCV000460850\|RCV002446805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128336	108128336	NC_000011.9:g.108128336A>T	ClinGen:CA16613279	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2376+3A>G	472	ATM	Conflicting interpretations of pathogenicity	758083563	RCV000562004\|RCV000694644;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128336	108128336	NC_000011.9:g.108128336A>G	ClinGen:CA6264998	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2376+5_2376+13dup	472	ATM	Likely benign	-1	RCV002899245;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128337	108128338	NC_000011.9:g.108128338_108128346dup	-
NM_000051.4(ATM):c.2376+5G>T	472	ATM	Uncertain significance	-1	RCV002582653;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128338	108128338	NC_000011.9:g.108128338G>T	-
NM_000051.4(ATM):c.2376+6A>C	472	ATM	Conflicting interpretations of pathogenicity	1409294054	RCV000820540\|RCV001180121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128339	108128339	11:g.108128339A>C	-
NM_000051.4(ATM):c.2376+7T>G	472	ATM	Likely benign	2135408560	RCV001465646;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128340	108128340	108128340	-
NM_000051.4(ATM):c.2376+7T>C	472	ATM	Likely benign	-1	RCV003087791;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128340	108128340	NC_000011.9:g.108128340T>C	-
NM_000051.4(ATM):c.2376+8T>G	472	ATM	Likely benign	2135408581	RCV001469968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128341	108128341	108128341	-
NM_000051.4(ATM):c.2376+8T>A	472	ATM	Likely benign	2135408581	RCV002207978;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128341	108128341	108128341	-
NM_000051.4(ATM):c.2376+8T>C	472	ATM	Likely benign	-1	RCV003018318;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128341	108128341	NC_000011.9:g.108128341T>C	-
NM_000051.4(ATM):c.2376+11C>T	472	ATM	Likely benign	-1	RCV003089268;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128344	108128344	NC_000011.9:g.108128344C>T	-
NM_000051.4(ATM):c.2376+14C>A	472	ATM	Likely benign	2135408701	RCV002114710;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128347	108128347	108128347	-
NM_000051.4(ATM):c.2376+16del	472	ATM	Likely benign	779169817	RCV000614023\|RCV000776177\|RCV002062927;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128348	108128348	NC_000011.9:g.108128349del	ClinGen:CA6264999	CN169374 not specified;
NM_000051.4(ATM):c.2376+16T>C	472	ATM	Likely benign	751221076	RCV002104552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128349	108128349	108128349	-
NM_000051.4(ATM):c.2376+9TTC[2]	472	ATM	Likely benign	757318914	RCV000204802\|RCV000482958\|RCV000777663;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108128350	108128352	NC_000011.9:g.108128344CTT[2]	ClinGen:CA348992	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2376+17C>G	472	ATM	Likely benign	-1	RCV002572558;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128350	108128350	NC_000011.9:g.108128350C>G	-
NM_000051.4(ATM):c.2376+20_2376+22del	472	ATM	Likely benign	1171212629	RCV000777578\|RCV002067363;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128351	108128353	NC_000011.9:g.108128353_108128355del	-
NM_000051.4(ATM):c.2376+20G>C	472	ATM	Benign/Likely benign	140364468	RCV000425518\|RCV000579756\|RCV002061333\|RCV003150199;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108128353	108128353	11:g.108128353G>C	ClinGen:CA6265003	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2376+20G>A	472	ATM	Likely benign	140364468	RCV002216623;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108128353	108128353	108128353	-
NM_000051.4(ATM):c.2377-56A>G	472	ATM	Benign	672655	RCV001533655\|RCV001692456\|RCV002225847\|RCV001655825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900	11	108129657	108129657	108129657	-
NM_000051.4(ATM):c.2377-15_2377-12del	472	ATM	Likely benign	730881298	RCV000159627\|RCV000776282\|RCV002053913;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129693	108129696	NC_000011.9:g.108129694TTGT[1]	ClinGen:CA298012	CN169374 not specified;
NM_000051.4(ATM):c.2377-20_2377-18del	472	ATM	Likely benign	2080689774	RCV002199692;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129693	108129695	108129692	-
NM_000051.4(ATM):c.2377-19T>G	472	ATM	Likely benign	775771700	RCV000420034\|RCV000771773\|RCV002062498;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129694	108129694	11:g.108129694T>G	ClinGen:CA6265015	CN169374 not specified;
NM_000051.4(ATM):c.2377-18T>C	472	ATM	Likely benign	761207086	RCV000443855\|RCV000584707\|RCV002062446;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129695	108129695	11:g.108129695T>C	ClinGen:CA6265016	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2377-16T>A	472	ATM	Likely benign	1009142114	RCV002087208;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129697	108129697	108129697	-
NM_000051.4(ATM):c.2377-13G>C	472	ATM	Likely benign	1296989358	RCV002180990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129700	108129700	108129700	-
NM_000051.4(ATM):c.2377-12T>C	472	ATM	Likely benign	-1	RCV003036740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129701	108129701	NC_000011.9:g.108129701T>C	-
NM_000051.4(ATM):c.2377-11C>G	472	ATM	Conflicting interpretations of pathogenicity	2080691297	RCV001179099\|RCV002068235;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129702	108129702	11:g.108129702C>G	-
NM_000051.4(ATM):c.2377-11C>A	472	ATM	Likely benign	2080691297	RCV002089293;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129702	108129702	108129702	-
NC_000011.10:g.(?_108258976)_(108335971_?)dup	472	ATM	Uncertain significance	-1	RCV001031142;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129703	108206698	-1	-
NM_000051.4(ATM):c.2377-9T>A	472	ATM	Conflicting interpretations of pathogenicity	2080691443	RCV001184687\|RCV002559067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129704	108129704	11:g.108129704T>A	-
NM_000051.4(ATM):c.2377-7A>G	472	ATM	Uncertain significance	2080691600	RCV001049237\|RCV001186516\|RCV001779108\|RCV003467758;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129706	108129706	11:g.108129706A>G	-
NM_000051.4(ATM):c.2377-6T>A	472	ATM	Conflicting interpretations of pathogenicity	876660963	RCV000468699\|RCV000656757\|RCV000771210\|RCV002288903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129707	108129707	11:g.108129707T>A	ClinGen:CA10577426	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2377-5T>C	472	ATM	Conflicting interpretations of pathogenicity	754206007	RCV000572482\|RCV000628280;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129708	108129708	11:g.108129708T>C	ClinGen:CA6265018	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2377-2A>G	472	ATM	Conflicting interpretations of pathogenicity	1057516553	RCV000411480\|RCV000568118\|RCV003463794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129711	108129711	11:g.108129711A>G	ClinGen:CA16041391	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2377-2A>T	472	ATM	Likely pathogenic	1057516553	RCV002048890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129711	108129711	108129711	-
NM_000051.4(ATM):c.2377_2378dup (p.Ser794fs)	472	ATM	Pathogenic/Likely pathogenic	1057516980	RCV000410884\|RCV002450946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129712	108129713	11:g.108129712_108129713insAA	ClinGen:CA16041392	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2377A>G (p.Lys793Glu)	472	ATM	Uncertain significance	587781583	RCV000129623\|RCV000227337\|RCV003323408\|RCV003467114;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129713	108129713	11:g.108129713A>G	ClinGen:CA164793	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2377A>C (p.Lys793Gln)	472	ATM	Uncertain significance	587781583	RCV000777628\|RCV001227403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129713	108129713	NC_000011.9:g.108129713A>C	-
NM_000051.4(ATM):c.2378A>G (p.Lys793Arg)	472	ATM	Uncertain significance	2080692590	RCV001307795;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129714	108129714	108129714	-
NM_000051.4(ATM):c.2379G>A (p.Lys793=)	472	ATM	Likely benign	1333875379	RCV001467180\|RCV002456800;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129715	108129715	108129715	-
NM_000051.4(ATM):c.2380A>C (p.Ser794Arg)	472	ATM	Uncertain significance	876658149	RCV000221159\|RCV001306625;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129716	108129716	11:g.108129716A>C	ClinGen:CA10579052	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2382T>A (p.Ser794Arg)	472	ATM	Uncertain significance	1555076601	RCV000627858\|RCV002457967;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129718	108129718	NC_000011.9:g.108129718T>A	ClinGen:CA382541027	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2382T>C (p.Ser794=)	472	ATM	Likely benign	1555076601	RCV002119031;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129718	108129718	108129718	-
NM_000051.4(ATM):c.2383C>T (p.Pro795Ser)	472	ATM	Uncertain significance	1060501651	RCV000472701\|RCV002451102\|RCV003470431;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129719	108129719	NC_000011.9:g.108129719C>T	ClinGen:CA16613089	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2385A>G (p.Pro795=)	472	ATM	Likely benign	2135420750	RCV001467458\|RCV003160894;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129721	108129721	108129721	-
NM_000051.4(ATM):c.2386A>C (p.Asn796His)	472	ATM	Uncertain significance	201793499	RCV000130389\|RCV000479754\|RCV000627981\|RCV001175038\|RCV003460926;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129722	108129722	11:g.108129722A>C	ClinGen:CA166309	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2386A>T (p.Asn796Tyr)	472	ATM	Uncertain significance	201793499	RCV000206155\|RCV000563514\|RCV000710666;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108129722	108129722	NC_000011.9:g.108129722A>T	ClinGen:CA350217	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2386A>G (p.Asn796Asp)	472	ATM	Uncertain significance	-1	RCV002861552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129722	108129722	NC_000011.9:g.108129722A>G	-
NM_000051.4(ATM):c.2387A>G (p.Asn796Ser)	472	ATM	Uncertain significance	1555076612	RCV001015364\|RCV001275694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129723	108129723	11:g.108129723A>G	-
NM_000051.4(ATM):c.2390A>C (p.Lys797Thr)	472	ATM	Uncertain significance	2135420825	RCV001947210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129726	108129726	108129726	-
NM_000051.4(ATM):c.2391G>T (p.Lys797Asn)	472	ATM	Uncertain significance	-1	RCV002820179;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129727	108129727	NC_000011.9:g.108129727G>T	-
NM_000051.4(ATM):c.2394T>C (p.Ile798=)	472	ATM	Likely benign	876659882	RCV000220969\|RCV000436267\|RCV000528585;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129730	108129730	11:g.108129730T>C	ClinGen:CA10579053	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2395G>A (p.Ala799Thr)	472	ATM	Uncertain significance	1591551217	RCV000816522;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129731	108129731	11:g.108129731G>A	-
NM_000051.4(ATM):c.2396C>T (p.Ala799Val)	472	ATM	Conflicting interpretations of pathogenicity	199954262	RCV000159693\|RCV000254631\|RCV000472551\|RCV001355809\|RCV001704147\|RCV003149969;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562	11	108129732	108129732	NC_000011.9:g.108129732C>T	ClinGen:CA298164	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2396_2407del (p.Ala799_Phe803delinsVal)	472	ATM	Uncertain significance	-1	RCV003033240;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129732	108129743	NC_000011.9:g.108129732_108129743del	-
NM_000051.4(ATM):c.2397A>G (p.Ala799=)	472	ATM	Likely benign	1060504279	RCV001492583\|RCV002455871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129733	108129733	NC_000011.9:g.108129733A>G	ClinGen:CA16613090	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2397A>T (p.Ala799=)	472	ATM	Likely benign	1060504279	RCV001446677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129733	108129733	11:g.108129733A>T	-
NM_000051.4(ATM):c.2397A>C (p.Ala799=)	472	ATM	Likely benign	1060504279	RCV001015399\|RCV002068907;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129733	108129733	11:g.108129733A>C	-
NM_000051.4(ATM):c.2400T>A (p.Ser800=)	472	ATM	Likely benign	-1	RCV002796314;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129736	108129736		-
NM_000051.4(ATM):c.2401G>A (p.Gly801Ser)	472	ATM	Uncertain significance	1565399865	RCV000685784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129737	108129737	NC_000011.9:g.108129737G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2402G>A (p.Gly801Asp)	472	ATM	Uncertain significance	1591551289	RCV001015424\|RCV001364965;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129738	108129738	11:g.108129738G>A	-
NM_000051.4(ATM):c.2403C>A (p.Gly801=)	472	ATM	Likely benign	1264455310	RCV000828125\|RCV001406751;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129739	108129739	11:g.108129739C>A	-
NM_000051.4(ATM):c.2404T>A (p.Phe802Ile)	472	ATM	Uncertain significance	2080695065	RCV001069232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129740	108129740	11:g.108129740T>A	-
NM_000051.4(ATM):c.2408del (p.Phe803fs)	472	ATM	Pathogenic	-1	RCV003062450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129740	108129740	NC_000011.9:g.108129744del	-
NM_000051.4(ATM):c.2406T>C (p.Phe802=)	472	ATM	Likely benign	1472760933	RCV000628312\|RCV001712691\|RCV002448903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129742	108129742	11:g.108129742T>C	ClinGen:CA476672858	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2406_2407insC (p.Phe803fs)	472	ATM	Pathogenic/Likely pathogenic	2135421164	RCV002042271\|RCV003470952;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129742	108129743	108129742	-
NM_000051.4(ATM):c.2407T>C (p.Phe803Leu)	472	ATM	Uncertain significance	2080695332	RCV001233328\|RCV002451557;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129743	108129743	11:g.108129743T>C	-
NM_000051.4(ATM):c.2408T>C (p.Phe803Ser)	472	ATM	Uncertain significance	751218526	RCV000484668\|RCV000777664\|RCV000804031;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129744	108129744	11:g.108129744T>C	ClinGen:CA6265019	CN169374 not specified;
NM_000051.4(ATM):c.2409C>G (p.Phe803Leu)	472	ATM	Uncertain significance	1416444032	RCV001302870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129745	108129745	108129745	-
NM_000051.4(ATM):c.2409C>T (p.Phe803=)	472	ATM	Likely benign	1416444032	RCV002086276;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129745	108129745	108129745	-
NM_000051.4(ATM):c.2410C>T (p.Leu804=)	472	ATM	Likely benign	1591551341	RCV001483888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129746	108129746	11:g.108129746C>T	-
NM_000051.4(ATM):c.2413C>T (p.Arg805Ter)	472	ATM	Pathogenic	780619951	RCV000199790\|RCV000221009\|RCV000489745\|RCV000762818\|RCV001030523\|RCV003332139\|RCV003468893;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108129749	108129749	NC_000011.9:g.108129749C>T	ClinGen:CA338870	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2413C>G (p.Arg805Gly)	472	ATM	Uncertain significance	780619951	RCV000549265\|RCV003278874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129749	108129749	NC_000011.9:g.108129749C>G	ClinGen:CA382541198	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2414G>A (p.Arg805Gln)	472	ATM	Uncertain significance	587782255	RCV000130968\|RCV000466366\|RCV000482755\|RCV002492510\|RCV003338419;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108129750	108129750	11:g.108129750G>A	ClinGen:CA167470	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2415A>G (p.Arg805=)	472	ATM	Likely benign	-1	RCV003013871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129751	108129751		-
NM_000051.4(ATM):c.2416T>C (p.Leu806=)	472	ATM	Likely benign	1591551376	RCV001015275\|RCV001394255;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129752	108129752	11:g.108129752T>C	-
NM_000051.4(ATM):c.2417T>G (p.Leu806Trp)	472	ATM	Uncertain significance	1565399936	RCV000686998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129753	108129753	NC_000011.9:g.108129753T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2418G>T (p.Leu806Phe)	472	ATM	Uncertain significance	587781296	RCV000129001\|RCV000168332\|RCV001358487\|RCV001818299\|RCV001588979\|RCV003149885\|RCV003467100;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108129754	108129754	11:g.108129754G>T	ClinGen:CA163631	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2419T>C (p.Leu807=)	472	ATM	Likely benign	1555076667	RCV000628288;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129755	108129755	NC_000011.9:g.108129755T>C	ClinGen:CA476672884	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2423C>T (p.Thr808Ile)	472	ATM	Uncertain significance	2080697096	RCV001064813\|RCV002445335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129759	108129759	11:g.108129759C>T	-
NM_000051.4(ATM):c.2424A>G (p.Thr808=)	472	ATM	Likely benign	1555076671	RCV000566268\|RCV002527972;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129760	108129760	11:g.108129760A>G	ClinGen:CA476672899	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2425T>G (p.Ser809Ala)	472	ATM	Uncertain significance	926246315	RCV000481080\|RCV000563437\|RCV000704994;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129761	108129761	11:g.108129761T>G	ClinGen:CA16619138	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2426C>T (p.Ser809Leu)	472	ATM	Uncertain significance	730881348	RCV000159694\|RCV000221491\|RCV001244119\|RCV003237340;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129762	108129762	NC_000011.9:g.108129762C>T	ClinGen:CA298167	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2426C>A (p.Ser809Ter)	472	ATM	Pathogenic/Likely pathogenic	730881348	RCV000167295\|RCV000235751\|RCV000457197\|RCV003114318\|RCV003468805;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129762	108129762	11:g.108129762C>A	ClinGen:CA197946	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2426del (p.Thr808_Ser809insTer)	472	ATM	Pathogenic	2135421629	RCV001384923;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129762	108129762	108129761	-
NM_000051.4(ATM):c.2427A>G (p.Ser809=)	472	ATM	Likely benign	1591551435	RCV000920512\|RCV001015480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129763	108129763	11:g.108129763A>G	-
NM_000051.4(ATM):c.2429del (p.Lys810fs)	472	ATM	Pathogenic	-1	RCV002857856;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129763	108129763	NC_000011.9:g.108129765del	-
NM_000051.4(ATM):c.2428A>G (p.Lys810Glu)	472	ATM	Uncertain significance	201909756	RCV000221054\|RCV000231365\|RCV002298535\|RCV003469033;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129764	108129764	11:g.108129764A>G	ClinGen:CA6265021	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2429A>T (p.Lys810Met)	472	ATM	Uncertain significance	2080698039	RCV001236350;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129765	108129765	11:g.108129765A>T	-
NM_000051.4(ATM):c.2430G>A (p.Lys810=)	472	ATM	Likely benign	1555076689	RCV000628283\|RCV002457968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129766	108129766	11:g.108129766G>A	ClinGen:CA476672908	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2431C>T (p.Leu811=)	472	ATM	Likely benign	2135421739	RCV001435009;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129767	108129767	108129767	-
NM_000051.4(ATM):c.2432del (p.Leu811fs)	472	ATM	Pathogenic	2135421772	RCV001390031;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129768	108129768	108129767	-
NM_000051.4(ATM):c.2434A>G (p.Met812Val)	472	ATM	Conflicting interpretations of pathogenicity	112357985	RCV000628148\|RCV001190867\|RCV003153765\|RCV003317304\|RCV003411484;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MedGen:C3661900\|	11	108129770	108129770	NC_000011.9:g.108129770A>G	ClinGen:CA228399932	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2436G>A (p.Met812Ile)	472	ATM	Uncertain significance	876658688	RCV000217018\|RCV000627899\|RCV002264920\|RCV003237345;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129772	108129772	11:g.108129772G>A	ClinGen:CA10579054	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2438del (p.Asn813fs)	472	ATM	Pathogenic	2135421887	RCV001989897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129773	108129773	108129772	-
NM_000051.4(ATM):c.2439T>A (p.Asn813Lys)	472	ATM	Uncertain significance	-1	RCV003014658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129775	108129775	NC_000011.9:g.108129775T>A	-
NM_000051.4(ATM):c.2440G>A (p.Asp814Asn)	472	ATM	Uncertain significance	2135421927	RCV001913210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129776	108129776	108129776	-
NM_000051.4(ATM):c.2441A>T (p.Asp814Val)	472	ATM	Uncertain significance	1565400035	RCV000691379\|RCV002458232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129777	108129777	11:g.108129777A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2442C>A (p.Asp814Glu)	472	ATM	Benign	3218695	RCV000120123\|RCV000129054\|RCV000206885\|RCV001357064\|RCV001573497\|RCV002225357\|RCV002492417\|RCV003149819\|RCV003315723;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108129778	108129778	11:g.108129778C>A	ClinGen:CA157076,UniProtKB:Q13315#VAR_056681	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2442C>T (p.Asp814=)	472	ATM	Likely benign	3218695	RCV000164658\|RCV000435790\|RCV000525234;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129778	108129778	11:g.108129778C>T	ClinGen:CA191486	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2443A>G (p.Ile815Val)	472	ATM	Uncertain significance	746090916	RCV000236281\|RCV000476330\|RCV000580991\|RCV000780914\|RCV003463703;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129779	108129779	NC_000011.9:g.108129779A>G	ClinGen:CA6265023	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2444T>C (p.Ile815Thr)	472	ATM	Uncertain significance	2135422030	RCV002023977;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129780	108129780	108129780	-
NM_000051.4(ATM):c.2445T>G (p.Ile815Met)	472	ATM	Uncertain significance	2080699276	RCV001317491;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129781	108129781	108129781	-
NM_000051.4(ATM):c.2446_2447delinsCT (p.Ala816Leu)	472	ATM	Conflicting interpretations of pathogenicity	587781956	RCV000130332\|RCV000481791\|RCV000688351\|RCV003467140;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129782	108129783	NC_000011.9:g.108129782_108129783delinsCT	ClinGen:CA166208	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2447C>G (p.Ala816Gly)	472	ATM	Uncertain significance	1351798568	RCV001343542;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129783	108129783	108129783	-
NM_000051.4(ATM):c.2449G>C (p.Asp817His)	472	ATM	Conflicting interpretations of pathogenicity	587778067	RCV000120124\|RCV000168026\|RCV000159695\|RCV000656758\|RCV001250428\|RCV001356154;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Human Phenotype Ontology:HP:001	11	108129785	108129785	11:g.108129785G>C	ClinGen:CA157079	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2449G>A (p.Asp817Asn)	472	ATM	Uncertain significance	587778067	RCV000484430\|RCV000542524\|RCV002446934;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129785	108129785	11:g.108129785G>A	ClinGen:CA16619139	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2449G>T (p.Asp817Tyr)	472	ATM	Uncertain significance	587778067	RCV001321868;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129785	108129785	108129785	-
NM_000051.4(ATM):c.2450A>T (p.Asp817Val)	472	ATM	Uncertain significance	587779821	RCV000115155\|RCV000214429\|RCV000823698\|RCV002469011;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108129786	108129786	NC_000011.9:g.108129786A>T	ClinGen:CA286756	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2450A>G (p.Asp817Gly)	472	ATM	Uncertain significance	587779821	RCV000166561\|RCV000469003\|RCV000588467;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108129786	108129786	11:g.108129786A>G	ClinGen:CA196188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2452A>C (p.Ile818Leu)	472	ATM	Uncertain significance	2080700458	RCV001071405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129788	108129788	11:g.108129788A>C	-
NM_000051.4(ATM):c.2452A>G (p.Ile818Val)	472	ATM	Uncertain significance	2080700458	RCV001041121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129788	108129788	11:g.108129788A>G	-
NM_000051.4(ATM):c.2453T>C (p.Ile818Thr)	472	ATM	Uncertain significance	1591551563	RCV000808661\|RCV001015591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129789	108129789	11:g.108129789T>C	-
NM_000051.4(ATM):c.2455T>C (p.Cys819Arg)	472	ATM	Conflicting interpretations of pathogenicity	775644968	RCV000211457\|RCV000566647;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129791	108129791	11:g.108129791T>C	ClinGen:CA6265024	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2456G>A (p.Cys819Tyr)	472	ATM	Uncertain significance	1591551588	RCV001015599\|RCV001035383;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129792	108129792	11:g.108129792G>A	-
NM_000051.4(ATM):c.2459A>G (p.Lys820Arg)	472	ATM	Conflicting interpretations of pathogenicity	952566855	RCV000473412\|RCV002446807\|RCV003470444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129795	108129795	NC_000011.9:g.108129795A>G	ClinGen:CA16613280	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2459A>T (p.Lys820Ile)	472	ATM	Uncertain significance	-1	RCV003052440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129795	108129795	NC_000011.9:g.108129795A>T	-
NM_000051.4(ATM):c.2464_2466+2del	472	ATM	Pathogenic	2135422352	RCV001386458\|RCV002456604;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129797	108129801	108129796	-
NM_000051.4(ATM):c.2462G>C (p.Ser821Thr)	472	ATM	Uncertain significance	1555076748	RCV000573481\|RCV001217637;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129798	108129798	11:g.108129798G>C	ClinGen:CA382541410	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2464_2465dup (p.Leu822fs)	472	ATM	Pathogenic	2135422402	RCV002002473;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129798	108129799	108129798	-
NM_000051.4(ATM):c.2463T>G (p.Ser821Arg)	472	ATM	Conflicting interpretations of pathogenicity	864622412	RCV000205560\|RCV001358330\|RCV002453740\|RCV003468944;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129799	108129799	NC_000011.9:g.108129799T>G	ClinGen:CA349704	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2465T>A (p.Leu822Ter)	472	ATM	Pathogenic	1442299125	RCV000581413\|RCV001860063\|RCV003403371;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108129801	108129801	NC_000011.9:g.108129801T>A	ClinGen:CA382541426	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2466A>G (p.Leu822=)	472	ATM	Likely benign	747108452	RCV000223348\|RCV000228916\|RCV001705212;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108129802	108129802	11:g.108129802A>G	ClinGen:CA6265025	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+1del	472	ATM	Pathogenic	786202783	RCV000165770\|RCV000691683\|RCV003468756;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129803	108129803	11:g.108129803_108129803del	ClinGen:CA194178	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+1G>A	472	ATM	Pathogenic/Likely pathogenic	914092098	RCV000555048\|RCV002431495\|RCV003476226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108129803	108129803	11:g.108129803G>A	ClinGen:CA228399971	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(108129803_108137897)_(108239827_?)del	472	ATM	Likely pathogenic	-1	RCV002302526;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129803	108239827	-1	-
NM_000051.4(ATM):c.2466+2T>A	472	ATM	Likely pathogenic	878853495	RCV000234163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129804	108129804	NC_000011.9:g.108129804T>A	ClinGen:CA10582805	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+2T>G	472	ATM	Likely pathogenic	878853495	RCV000526775;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129804	108129804	11:g.108129804T>G	ClinGen:CA382541438	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+2T>C	472	ATM	Likely pathogenic	-1	RCV002863426;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129804	108129804	NC_000011.9:g.108129804T>C	-
NM_000051.4(ATM):c.2466+3A>C	472	ATM	Uncertain significance	-1	RCV003035348;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129805	108129805	NC_000011.9:g.108129805A>C	-
NM_000051.4(ATM):c.2466+4A>G	472	ATM	Uncertain significance	563482577	RCV000476509\|RCV000571688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129806	108129806	NC_000011.9:g.108129806A>G	ClinGen:CA6265027	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+4A>C	472	ATM	Uncertain significance	563482577	RCV000565192\|RCV001070806;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129806	108129806	NC_000011.9:g.108129806A>C	ClinGen:CA6265026	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2466+5G>C	472	ATM	Conflicting interpretations of pathogenicity	1064795969	RCV000486136\|RCV000580666\|RCV000800097;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129807	108129807	11:g.108129807G>C	ClinGen:CA16619140	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2466+5G>T	472	ATM	Uncertain significance	1064795969	RCV000709173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129807	108129807	NC_000011.9:g.108129807G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+5G>A	472	ATM	Conflicting interpretations of pathogenicity	1064795969	RCV001044300\|RCV002451171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129807	108129807	11:g.108129807G>A	-
NM_000051.4(ATM):c.2466+6T>C	472	ATM	Uncertain significance	2135422532	RCV001939930;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129808	108129808	108129808	-
NM_000051.4(ATM):c.2466+7A>G	472	ATM	Benign/Likely benign	55812024	RCV000123729\|RCV000199567\|RCV000581086\|RCV001311784;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108129809	108129809	NC_000011.9:g.108129809A>G	ClinGen:CA289547	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+7A>T	472	ATM	Likely benign	55812024	RCV002141578;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129809	108129809	108129809	-
NM_000051.4(ATM):c.2466+8T>A	472	ATM	Conflicting interpretations of pathogenicity	765619483	RCV000590812\|RCV001078578\|RCV001185286;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108129810	108129810	NC_000011.9:g.108129810T>A	ClinGen:CA6265028	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+8T>C	472	ATM	Likely benign	765619483	RCV001501370;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129810	108129810	11:g.108129810T>C	ClinGen:CA6265029	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2466+10_2466+16del	472	ATM	Uncertain significance	-1	RCV002711303;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129810	108129816	NC_000011.9:g.108129812_108129818del	-
NM_000051.4(ATM):c.2466+9dup	472	ATM	Likely benign	-1	RCV003008084;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129810	108129811	NC_000011.9:g.108129811dup	-
NM_000051.4(ATM):c.2466+9G>T	472	ATM	Likely benign	2135422617	RCV002143934;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129811	108129811	108129811	-
NM_000051.4(ATM):c.2466+10C>T	472	ATM	Likely benign	759158068	RCV001495361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129812	108129812	11:g.108129812C>T	-
NM_000051.4(ATM):c.2466+10C>A	472	ATM	Likely benign	759158068	RCV001399900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129812	108129812	108129812	-
NM_000051.4(ATM):c.2466+16G>A	472	ATM	Likely benign	2135422757	RCV002205452;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129818	108129818	108129818	-
NM_000051.4(ATM):c.2466+19T>G	472	ATM	Likely benign	374249638	RCV002083672\|RCV003150481;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108129821	108129821	108129821	-
NM_000051.4(ATM):c.2466+19T>C	472	ATM	Likely benign	-1	RCV002711195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129821	108129821	NC_000011.9:g.108129821T>C	-
NM_000051.4(ATM):c.2466+20T>C	472	ATM	Likely benign	-1	RCV002867590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108129822	108129822	NC_000011.9:g.108129822T>C	-
NM_000051.4(ATM):c.2466+1552G>C	472	ATM	Conflicting interpretations of pathogenicity	963653732	RCV001015625\|RCV002549424;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108131354	108131354	11:g.108131354G>C	-
NM_000051.4(ATM):c.2467-20T>G	472	ATM	Likely benign	-1	RCV002771496;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137878	108137878	NC_000011.9:g.108137878T>G	-
NM_000051.4(ATM):c.2467-19T>G	472	ATM	Likely benign	2135504690	RCV002101182;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137879	108137879	108137879	-
NM_000051.4(ATM):c.2467-13C>G	472	ATM	Likely benign	-1	RCV002637189;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137885	108137885	NC_000011.9:g.108137885C>G	-
NM_000051.4(ATM):c.2467-12T>C	472	ATM	Conflicting interpretations of pathogenicity	1469467036	RCV000772192\|RCV002067242\|RCV002464312;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108137886	108137886	NC_000011.9:g.108137886T>C	-
NM_000051.4(ATM):c.2467-12T>G	472	ATM	Likely benign	1469467036	RCV002084755;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137886	108137886	108137886	-
NM_000051.4(ATM):c.2467-11C>T	472	ATM	Likely benign	1267435091	RCV002175841;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137887	108137887	108137887	-
NM_000051.4(ATM):c.2467-11C>G	472	ATM	Likely benign	-1	RCV002666645;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137887	108137887	NC_000011.9:g.108137887C>G	-
NC_000011.9:g.(?_108137888)_(108225611_?)dup	472	ATM	Pathogenic	-1	RCV000707992;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137888	108225611		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108267161)_(108272862_?)del	472	ATM	Pathogenic	-1	RCV000809297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137888	108143589		-
NC_000011.10:g.(?_108267161)_(108365518_?)del	472	ATM	Pathogenic	-1	RCV000804604;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137888	108236245		-
NC_000011.9:g.(?_108137888)_(108236245_?)dup	472	ATM	Uncertain significance	-1	RCV000817953;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137888	108236245		-
NC_000011.10:g.(?_108267161)_(108268619_?)del	472	ATM	Uncertain significance	-1	RCV001033132;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137888	108139346	-1	-
NC_000011.10:g.(?_108267161)_(108307994_?)del	472	ATM	Pathogenic	-1	RCV001033708;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137888	108178721	-1	-
NC_000011.9:g.(?_108137888)_(108155210_?)del	472	ATM	Pathogenic	-1	RCV003119160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137888	108155210		-
NM_000051.4(ATM):c.2467-9T>A	472	ATM	Likely benign	1555082040	RCV001299503;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137889	108137889	108137889	-
NM_000051.4(ATM):c.2467-7dup	472	ATM	Likely benign	762495417	RCV001458096;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137889	108137890	108137889	-
NM_000051.4(ATM):c.2467-8C>G	472	ATM	Conflicting interpretations of pathogenicity	1425701157	RCV000555393\|RCV000777237;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137890	108137890	11:g.108137890C>G	ClinGen:CA658656230	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2467-8C>T	472	ATM	Likely benign	1425701157	RCV000603204\|RCV000772292\|RCV000934336;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137890	108137890	11:g.108137890C>T	ClinGen:CA601697889	CN169374 not specified;
NM_000051.4(ATM):c.2467-7C>T	472	ATM	Conflicting interpretations of pathogenicity	768850329	RCV000579933\|RCV000587579\|RCV001080098\|RCV001354655;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108137891	108137891	NC_000011.9:g.108137891C>T	ClinGen:CA6265046	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108267165)_(108365514_?)del	472	ATM	Pathogenic	-1	RCV000708054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137892	108236241		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2467-4G>T	472	ATM	Conflicting interpretations of pathogenicity	1555082048	RCV000628278\|RCV001015630\|RCV001653959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108137894	108137894	11:g.108137894G>T	ClinGen:CA658797783	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2467-4G>A	472	ATM	Likely benign	1555082048	RCV000777416\|RCV001430738;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137894	108137894	NC_000011.9:g.108137894G>A	-
NM_000051.4(ATM):c.2467-2A>C	472	ATM	Conflicting interpretations of pathogenicity	1555082050	RCV000583860\|RCV000672642;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137896	108137896	NC_000011.9:g.108137896A>C	ClinGen:CA382543075	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2467-2A>T	472	ATM	Likely pathogenic	1555082050	RCV000627967\|RCV001015629;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137896	108137896	11:g.108137896A>T	ClinGen:CA382543077	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2467-1G>A	472	ATM	Likely pathogenic	1328985852	RCV000539233\|RCV001260447\|RCV003225078\|RCV003470665;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137897	108137897	11:g.108137897G>A	ClinGen:CA382543080	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2467G>T (p.Ala823Ser)	472	ATM	Uncertain significance	786202895	RCV000165954\|RCV000627939;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137898	108137898	11:g.108137898G>T	ClinGen:CA194637	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.3(ATM):c.2467-?_8850+?dup6384	472	ATM	Likely pathogenic	-1	RCV000239985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137898	108225601		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2467G>A (p.Ala823Thr)	472	ATM	Uncertain significance	786202895	RCV000688150\|RCV002424597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137898	108137898	11:g.108137898G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2467G>C (p.Ala823Pro)	472	ATM	Uncertain significance	-1	RCV002455517\|RCV003101851;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137898	108137898	108137898	-
NM_000051.4(ATM):c.2471C>T (p.Ser824Phe)	472	ATM	Uncertain significance	1555082060	RCV000581716\|RCV000589259\|RCV001834829;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137902	108137902	11:g.108137902C>T	ClinGen:CA382543123	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2472C>T (p.Ser824=)	472	ATM	Likely benign	786203289	RCV000166527\|RCV001485490;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137903	108137903	11:g.108137903C>T	ClinGen:CA196103	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2472C>G (p.Ser824=)	472	ATM	Likely benign	786203289	RCV001500600\|RCV002445072;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137903	108137903	11:g.108137903C>G	-
NM_000051.4(ATM):c.2473T>G (p.Phe825Val)	472	ATM	Uncertain significance	2081300268	RCV001071096;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137904	108137904	11:g.108137904T>G	-
NM_000051.4(ATM):c.2474T>G (p.Phe825Cys)	472	ATM	Uncertain significance	1060501648	RCV000471039\|RCV000775700\|RCV003470430;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137905	108137905	NC_000011.9:g.108137905T>G	ClinGen:CA16613284	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2475C>T (p.Phe825=)	472	ATM	Likely benign	776907383	RCV000615573\|RCV001015675\|RCV001438603;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137906	108137906	11:g.108137906C>T	ClinGen:CA6265047	CN169374 not specified;
NM_000051.4(ATM):c.2476A>C (p.Ile826Leu)	472	ATM	Conflicting interpretations of pathogenicity	587782397	RCV000131419\|RCV000168043\|RCV000484154\|RCV000779790\|RCV001762310;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137907	108137907	11:g.108137907A>C	ClinGen:CA168126	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2476A>G (p.Ile826Val)	472	ATM	Uncertain significance	587782397	RCV001864693\|RCV002458667\|RCV002246561;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108137907	108137907	108137907	-
NM_000051.4(ATM):c.2478C>G (p.Ile826Met)	472	ATM	Uncertain significance	1591587125	RCV001015657\|RCV001062799;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137909	108137909	11:g.108137909C>G	-
NM_000051.4(ATM):c.2483del (p.Lys828fs)	472	ATM	Pathogenic	1064794234	RCV000485847\|RCV001054133\|RCV001805099;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137910	108137910	NC_000011.9:g.108137914del	ClinGen:CA16619141	CN517202 not provided;
NM_000051.4(ATM):c.2480A>G (p.Lys827Arg)	472	ATM	Uncertain significance	372230498	RCV000197770\|RCV000218054\|RCV003462316;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137911	108137911	NC_000011.9:g.108137911A>G	ClinGen:CA337420	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2483A>T (p.Lys828Met)	472	ATM	Uncertain significance	2081301026	RCV001324911;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137914	108137914	108137914	-
NM_000051.4(ATM):c.2484G>A (p.Lys828=)	472	ATM	Likely benign	-1	RCV003093195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137915	108137915		-
NM_000051.4(ATM):c.2484del (p.Lys828fs)	472	ATM	Pathogenic	-1	RCV003016400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137915	108137915	NC_000011.9:g.108137915del	-
NM_000051.4(ATM):c.2485C>G (p.Pro829Ala)	472	ATM	Uncertain significance	1060501546	RCV000475907\|RCV002429499;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137916	108137916	NC_000011.9:g.108137916C>G	ClinGen:CA16613091	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2485C>A (p.Pro829Thr)	472	ATM	Uncertain significance	1060501546	RCV001234125;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137916	108137916	11:g.108137916C>A	-
NM_000051.4(ATM):c.2486C>A (p.Pro829Gln)	472	ATM	Uncertain significance	1565416001	RCV000709174;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137917	108137917	11:g.108137917C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2487dup (p.Phe830fs)	472	ATM	Pathogenic	2135505571	RCV001389518;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137917	108137918	108137917	-
NM_000051.4(ATM):c.2486C>T (p.Pro829Leu)	472	ATM	Uncertain significance	1565416001	RCV001897929\|RCV002425183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137917	108137917	108137917	-
NM_000051.4(ATM):c.2487A>G (p.Pro829=)	472	ATM	Likely benign	1330586139	RCV000531410\|RCV001015718;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137918	108137918	NC_000011.9:g.108137918A>G	ClinGen:CA476673532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2489T>C (p.Phe830Ser)	472	ATM	Uncertain significance	773582901	RCV001982192\|RCV002425280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137920	108137920	108137920	-
NM_000051.4(ATM):c.2491G>A (p.Asp831Asn)	472	ATM	Uncertain significance	1060501595	RCV000465996\|RCV002429500;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137922	108137922	NC_000011.9:g.108137922G>A	ClinGen:CA16613093	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2491G>T (p.Asp831Tyr)	472	ATM	Uncertain significance	1060501595	RCV000467140\|RCV001183457;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137922	108137922	NC_000011.9:g.108137922G>T	ClinGen:CA16613293	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2492A>T (p.Asp831Val)	472	ATM	Uncertain significance	587781352	RCV000129136\|RCV001224553;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137923	108137923	11:g.108137923A>T	ClinGen:CA163872	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly)	472	ATM	Uncertain significance	587781352	RCV000166878\|RCV000474811\|RCV000478109\|RCV002498828\|RCV003315416;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108137923	108137923	11:g.108137923A>G	ClinGen:CA196932	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2494dup (p.Arg832fs)	472	ATM	Pathogenic	1131691165	RCV000494656\|RCV002524001;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137923	108137924	NC_000011.9:g.108137925dup	ClinGen:CA645369434	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2493C>T (p.Asp831=)	472	ATM	Likely benign	2135505712	RCV001478557\|RCV002432340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137924	108137924	108137924	-
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys)	472	ATM	Conflicting interpretations of pathogenicity	2229022	RCV000129082\|RCV000199664\|RCV000211982\|RCV000587618\|RCV003389703;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|	11	108137925	108137925	11:g.108137925C>T	ClinGen:CA293954	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2494C>A (p.Arg832Ser)	472	ATM	Uncertain significance	2229022	RCV000236585\|RCV000689047;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137925	108137925	NC_000011.9:g.108137925C>A	ClinGen:CA6265049	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2494C>G (p.Arg832Gly)	472	ATM	Uncertain significance	2229022	RCV000694461\|RCV001015701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137925	108137925	NC_000011.9:g.108137925C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2495G>A (p.Arg832His)	472	ATM	Conflicting interpretations of pathogenicity	199875915	RCV000130241\|RCV000168264\|RCV000483469\|RCV001174859;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108137926	108137926	11:g.108137926G>A	ClinGen:CA166023	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2495G>C (p.Arg832Pro)	472	ATM	Uncertain significance	199875915	RCV000215198\|RCV001052279;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137926	108137926	11:g.108137926G>C	ClinGen:CA10579055	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2495G>T (p.Arg832Leu)	472	ATM	Conflicting interpretations of pathogenicity	199875915	RCV000466846\|RCV000572358\|RCV000679103\|RCV002298598;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108137926	108137926	NC_000011.9:g.108137926G>T	ClinGen:CA6265050	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2497G>T (p.Gly833Ter)	472	ATM	Pathogenic	876658804	RCV000218015\|RCV001071603\|RCV001554334;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222	11	108137928	108137928	11:g.108137928G>T	ClinGen:CA10579056	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2497G>A (p.Gly833Arg)	472	ATM	Uncertain significance	876658804	RCV000707429;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137928	108137928	11:g.108137928G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2498G>C (p.Gly833Ala)	472	ATM	Uncertain significance	552010421	RCV000236450\|RCV000773240\|RCV001051136;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137929	108137929	NC_000011.9:g.108137929G>C	ClinGen:CA6265051	CN169374 not specified;
NM_000051.4(ATM):c.2499A>C (p.Gly833=)	472	ATM	Likely benign	1060504263	RCV000466258\|RCV000566054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137930	108137930	NC_000011.9:g.108137930A>C	ClinGen:CA16613099	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2502dup (p.Val835fs)	472	ATM	Pathogenic	587779822	RCV000115156\|RCV000235098\|RCV000410349\|RCV001354394\|RCV003467022;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015278,MedGen:C2931038, Orphanet:1333\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:2275	11	108137931	108137932	NC_000011.9:g.108137933dup	ClinGen:CA286759	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2500G>T (p.Glu834Ter)	472	ATM	Pathogenic/Likely pathogenic	876660430	RCV000218880\|RCV000544182\|RCV003469080;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137931	108137931	11:g.108137931G>T	ClinGen:CA10579057	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2500_2501delinsCT (p.Glu834Leu)	472	ATM	Uncertain significance	879254208	RCV000235846\|RCV001857815\|RCV002429156;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137931	108137932	NC_000011.9:g.108137931_108137932delinsCT	ClinGen:CA10584331	CN169374 not specified;
NM_000051.4(ATM):c.2501A>T (p.Glu834Val)	472	ATM	Uncertain significance	730881349	RCV000159697\|RCV000234897\|RCV000820416\|RCV003467227;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137932	108137932	NC_000011.9:g.108137932A>T	ClinGen:CA298173	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2502del (p.Glu834_Val835insTer)	472	ATM	Pathogenic	-1	RCV003000125;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137932	108137932	NC_000011.9:g.108137933del	-
NM_000051.4(ATM):c.2502A>G (p.Glu834=)	472	ATM	Likely benign	1591587377	RCV001406491;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137933	108137933	11:g.108137933A>G	-
NM_000051.4(ATM):c.2503G>T (p.Val835Leu)	472	ATM	Uncertain significance	757151992	RCV000561363\|RCV001221844;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137934	108137934	NC_000011.9:g.108137934G>T	ClinGen:CA6265052	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2503del (p.Glu834_Val835insTer)	472	ATM	Pathogenic/Likely pathogenic	2081303007	RCV001201614\|RCV003462673;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137934	108137934	11:g.108137934_108137934del	-
NM_000051.4(ATM):c.2504T>A (p.Val835Glu)	472	ATM	Uncertain significance	765118015	RCV001305852;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137935	108137935	108137935	-
NM_000051.4(ATM):c.2505A>G (p.Val835=)	472	ATM	Likely benign	1057523506	RCV000437386\|RCV000584190\|RCV000931417;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137936	108137936	11:g.108137936A>G	ClinGen:CA16606163	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2506G>A (p.Glu836Lys)	472	ATM	Uncertain significance	141054982	RCV000159698\|RCV000462079\|RCV002426786;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137937	108137937	NC_000011.9:g.108137937G>A	ClinGen:CA298176	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2508dup (p.Ser837fs)	472	ATM	Pathogenic	770396940	RCV000801054\|RCV001015764;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137937	108137938	11:g.108137937_108137938insA	-
NM_000051.4(ATM):c.2508A>G (p.Glu836=)	472	ATM	Likely benign	2135506209	RCV001439057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137939	108137939	108137939	-
NM_000051.4(ATM):c.2508A>T (p.Glu836Asp)	472	ATM	Uncertain significance	2135506209	RCV001914663;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137939	108137939	108137939	-
NM_000051.4(ATM):c.2510C>G (p.Ser837Ter)	472	ATM	Pathogenic/Likely pathogenic	2081303434	RCV001879521\|RCV002425157\|RCV003470983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137941	108137941	108137941	-
NM_000051.4(ATM):c.2512A>G (p.Met838Val)	472	ATM	Uncertain significance	1555082132	RCV000628058\|RCV001525058\|RCV003321696;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108137943	108137943	NC_000011.9:g.108137943A>G	ClinGen:CA382543398	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2514G>T (p.Met838Ile)	472	ATM	Uncertain significance	2135506364	RCV001977428;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137945	108137945	108137945	-
NM_000051.4(ATM):c.2515G>C (p.Glu839Gln)	472	ATM	Uncertain significance	1246807453	RCV000779796\|RCV001015749\|RCV001068413;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137946	108137946	NC_000011.9:g.108137946G>C	-
NM_000051.4(ATM):c.2516A>C (p.Glu839Ala)	472	ATM	Uncertain significance	1591587459	RCV000807355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137947	108137947	11:g.108137947A>C	-
NM_000051.4(ATM):c.2516A>G (p.Glu839Gly)	472	ATM	Uncertain significance	-1	RCV002304067;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137947	108137947	108137947	-
NM_000051.4(ATM):c.2517A>T (p.Glu839Asp)	472	ATM	Uncertain significance	1060501697	RCV000466321\|RCV000569243\|RCV000780881;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108137948	108137948	NC_000011.9:g.108137948A>T	ClinGen:CA16613101	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2517A>G (p.Glu839=)	472	ATM	Likely benign	-1	RCV002872247\|RCV003367898;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137948	108137948		-
NM_000051.4(ATM):c.2519A>T (p.Asp840Val)	472	ATM	Uncertain significance	786202605	RCV000165495\|RCV000459754\|RCV000679104\|RCV003150023\|RCV003468746;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137950	108137950	11:g.108137950A>T	ClinGen:CA193546	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2519A>G (p.Asp840Gly)	472	ATM	Uncertain significance	786202605	RCV000570690\|RCV000820523;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137950	108137950	NC_000011.9:g.108137950A>G	ClinGen:CA382543463	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2520T>G (p.Asp840Glu)	472	ATM	Conflicting interpretations of pathogenicity	1591587498	RCV001015808\|RCV002550809;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137951	108137951	11:g.108137951T>G	-
NM_000051.4(ATM):c.2520T>C (p.Asp840=)	472	ATM	Likely benign	1591587498	RCV001492195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137951	108137951	108137951	-
NM_000051.4(ATM):c.2521del (p.Asp841fs)	472	ATM	Pathogenic	1175457710	RCV000552064\|RCV000777225\|RCV001729622;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108137952	108137952	NC_000011.9:g.108137952del	ClinGen:CA16622059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2522A>G (p.Asp841Gly)	472	ATM	Uncertain significance	587781812	RCV000130083\|RCV000458854;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137953	108137953	11:g.108137953A>G	ClinGen:CA165667	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2522A>C (p.Asp841Ala)	472	ATM	Conflicting interpretations of pathogenicity	587781812	RCV000163825\|RCV000205271\|RCV000515444\|RCV000589287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108137953	108137953	11:g.108137953A>C	ClinGen:CA189280	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2524dup (p.Thr842fs)	472	ATM	Pathogenic/Likely pathogenic	1555082160	RCV000532905\|RCV002431496\|RCV003464118;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137954	108137955	11:g.108137954_108137955insA	ClinGen:CA658656232	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2523T>C (p.Asp841=)	472	ATM	Likely benign	758234872	RCV001192352\|RCV001491582;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137954	108137954	11:g.108137954T>C	-
NM_000051.4(ATM):c.2525C>G (p.Thr842Ser)	472	ATM	Uncertain significance	1555082164	RCV000571572\|RCV000793227\|RCV002466537;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108137956	108137956	NC_000011.9:g.108137956C>G	ClinGen:CA382543518	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2530_2535del (p.Gly844_Asn845del)	472	ATM	Uncertain significance	956305036	RCV000563314\|RCV001834816;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137958	108137963	NC_000011.9:g.108137961_108137966del	ClinGen:CA228406341	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2528_2529del (p.Asn843fs)	472	ATM	Likely pathogenic	-1	RCV002283697;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137959	108137960	108137958	-
NM_000051.4(ATM):c.2529T>C (p.Asn843=)	472	ATM	Likely benign	876660189	RCV000222690\|RCV000615473\|RCV000975772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137960	108137960	11:g.108137960T>C	ClinGen:CA10579058	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2531G>A (p.Gly844Glu)	472	ATM	Conflicting interpretations of pathogenicity	587781808	RCV000130079\|RCV000168121\|RCV000211983\|RCV002288634\|RCV003226209\|RCV003415949;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374\|	11	108137962	108137962	11:g.108137962G>A	ClinGen:CA294150	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2531G>C (p.Gly844Ala)	472	ATM	Uncertain significance	587781808	RCV000572582\|RCV000699443;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137962	108137962	NC_000011.9:g.108137962G>C	ClinGen:CA6265056	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2532A>G (p.Gly844=)	472	ATM	Likely benign	755261743	RCV000162656\|RCV000710667\|RCV001497888;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137963	108137963	11:g.108137963A>G	ClinGen:CA186654	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2534del (p.Asn845fs)	472	ATM	Pathogenic	1591587673	RCV000804766\|RCV003362956;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137963	108137963	11:g.108137963_108137963del	-
NM_000051.4(ATM):c.2533A>C (p.Asn845His)	472	ATM	Uncertain significance	1591587679	RCV001015792\|RCV001054377\|RCV002249632;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108137964	108137964	11:g.108137964A>C	-
NM_000051.4(ATM):c.2534A>G (p.Asn845Ser)	472	ATM	Uncertain significance	1060501591	RCV000472263;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137965	108137965	NC_000011.9:g.108137965A>G	ClinGen:CA16613104	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2536C>G (p.Leu846Val)	472	ATM	Uncertain significance	1555082186	RCV000566965\|RCV000697660;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137967	108137967	NC_000011.9:g.108137967C>G	ClinGen:CA382543586	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2537T>C (p.Leu846Pro)	472	ATM	Uncertain significance	2135507057	RCV001930217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137968	108137968	108137968	-
NM_000051.4(ATM):c.2538A>C (p.Leu846=)	472	ATM	Likely benign	567045160	RCV001497921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137969	108137969	NC_000011.9:g.108137969A>C	ClinGen:CA16613025	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2538A>G (p.Leu846=)	472	ATM	Likely benign	567045160	RCV001175526\|RCV001478668\|RCV002427327;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137969	108137969	11:g.108137969A>G	-
NM_000051.4(ATM):c.2539A>G (p.Met847Val)	472	ATM	Uncertain significance	587779823	RCV000115157\|RCV000689269\|RCV001015804;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137970	108137970	NC_000011.9:g.108137970A>G	ClinGen:CA286760	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2539A>T (p.Met847Leu)	472	ATM	Uncertain significance	587779823	RCV000216310\|RCV000545371;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137970	108137970	11:g.108137970A>T	ClinGen:CA10579059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2540T>A (p.Met847Lys)	472	ATM	Uncertain significance	1382712243	RCV000691554;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137971	108137971	11:g.108137971T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2540T>C (p.Met847Thr)	472	ATM	Uncertain significance	-1	RCV002815226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137971	108137971	NC_000011.9:g.108137971T>C	-
NM_000051.4(ATM):c.2541G>A (p.Met847Ile)	472	ATM	Uncertain significance	864622131	RCV000205835\|RCV002426957;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137972	108137972	NC_000011.9:g.108137972G>A	ClinGen:CA349947	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2542G>T (p.Glu848Ter)	472	ATM	Likely pathogenic	879254046	RCV000409865\|RCV003168591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108137973	108137973	NC_000011.9:g.108137973G>T	ClinGen:CA16041393	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2543A>G (p.Glu848Gly)	472	ATM	Uncertain significance	1060501555	RCV000474494\|RCV002451101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137974	108137974	NC_000011.9:g.108137974A>G	ClinGen:CA16613369	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2544G>C (p.Glu848Asp)	472	ATM	Uncertain significance	1060501601	RCV000465941;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137975	108137975	NC_000011.9:g.108137975G>C	ClinGen:CA16613027	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2544G>A (p.Glu848=)	472	ATM	Likely benign	1060501601	RCV000921419\|RCV002454099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137975	108137975	11:g.108137975G>A	-
NM_000051.4(ATM):c.2544G>T (p.Glu848Asp)	472	ATM	Uncertain significance	1060501601	RCV001323495;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137975	108137975	108137975	-
NM_000051.4(ATM):c.2545G>T (p.Val849Leu)	472	ATM	Uncertain significance	1591587875	RCV001015916\|RCV001340736\|RCV003467627;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137976	108137976	11:g.108137976G>T	-
NM_000051.4(ATM):c.2546T>C (p.Val849Ala)	472	ATM	Uncertain significance	1555082209	RCV000583055\|RCV000689492;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137977	108137977	11:g.108137977T>C	ClinGen:CA382543683	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2547G>A (p.Val849=)	472	ATM	Conflicting interpretations of pathogenicity	1060504262	RCV000471465\|RCV001015919\|RCV003321622;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108137978	108137978	NC_000011.9:g.108137978G>A	ClinGen:CA16613106	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2548G>T (p.Glu850Ter)	472	ATM	Pathogenic	587782280	RCV000131140\|RCV001849939;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137979	108137979	11:g.108137979G>T	ClinGen:CA167666	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2549A>G (p.Glu850Gly)	472	ATM	Uncertain significance	876660456	RCV000220649\|RCV001043225;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137980	108137980	11:g.108137980A>G	ClinGen:CA10579060	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2550G>A (p.Glu850=)	472	ATM	Likely benign	1399925352	RCV000628285;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137981	108137981	11:g.108137981G>A	ClinGen:CA476673613	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2551G>A (p.Asp851Asn)	472	ATM	Uncertain significance	1555082218	RCV000563225\|RCV000700277;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137982	108137982	NC_000011.9:g.108137982G>A	ClinGen:CA382543715	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2552A>G (p.Asp851Gly)	472	ATM	Uncertain significance	748203812	RCV000216103\|RCV000234621\|RCV000478364\|RCV002485433;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108137983	108137983	11:g.108137983A>G	ClinGen:CA6265058	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2553_2638+61del	472	ATM	Pathogenic	2135507457	RCV001918337;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137983	108138129	108137982	-
NM_000051.4(ATM):c.2553T>G (p.Asp851Glu)	472	ATM	Uncertain significance	1064793513	RCV000483479\|RCV000569986\|RCV000821523\|RCV003470538;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137984	108137984	11:g.108137984T>G	ClinGen:CA16619142	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2553T>A (p.Asp851Glu)	472	ATM	Uncertain significance	1064793513	RCV000558049\|RCV002431497;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137984	108137984	NC_000011.9:g.108137984T>A	ClinGen:CA382543740	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2554C>T (p.Gln852Ter)	472	ATM	Pathogenic	758081262	RCV000457787\|RCV000762819\|RCV001015914\|RCV003168780\|RCV003155940;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Hu	11	108137985	108137985	NC_000011.9:g.108137985C>T	ClinGen:CA6265059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2555A>G (p.Gln852Arg)	472	ATM	Uncertain significance	1265258461	RCV001337330;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137986	108137986	108137986	-
NM_000051.4(ATM):c.2556G>C (p.Gln852His)	472	ATM	Uncertain significance	2081307368	RCV001924107;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137987	108137987	108137987	-
NM_000051.4(ATM):c.2556G>A (p.Gln852=)	472	ATM	Likely benign	2081307368	RCV002186643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137987	108137987	108137987	-
NM_000051.4(ATM):c.2557T>C (p.Ser853Pro)	472	ATM	Uncertain significance	876658913	RCV000223362\|RCV000228371\|RCV002282057;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108137988	108137988	11:g.108137988T>C	ClinGen:CA10579061	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2558C>T (p.Ser853Leu)	472	ATM	Uncertain significance	1555082235	RCV000628202\|RCV002431838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137989	108137989	NC_000011.9:g.108137989C>T	ClinGen:CA382543782	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2559A>T (p.Ser853=)	472	ATM	Likely benign	2081307609	RCV001194271\|RCV001407913\|RCV002429853;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137990	108137990	11:g.108137990A>T	-
NM_000051.4(ATM):c.2559A>G (p.Ser853=)	472	ATM	Likely benign	2081307609	RCV002102011\|RCV002427528;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137990	108137990	108137990	-
NM_000051.4(ATM):c.2560T>C (p.Ser854Pro)	472	ATM	Uncertain significance	1060501632	RCV000474745;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137991	108137991	NC_000011.9:g.108137991T>C	ClinGen:CA16613107	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2561C>A (p.Ser854Tyr)	472	ATM	Uncertain significance	778123895	RCV000478056\|RCV000574598\|RCV000706877\|RCV003387855\|RCV003470560;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137992	108137992	11:g.108137992C>A	ClinGen:CA6265060	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2562C>T (p.Ser854=)	472	ATM	Likely benign	-1	RCV003047618;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137993	108137993		-
NM_000051.4(ATM):c.2564dup (p.Met855fs)	472	ATM	Pathogenic	730881299	RCV000159628\|RCV001390408;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137994	108137995	NC_000011.9:g.108137995dup	ClinGen:CA298013	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2563A>T (p.Met855Leu)	472	ATM	Uncertain significance	749844591	RCV000705585\|RCV001177310\|RCV001816734;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108137994	108137994	11:g.108137994A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2563A>G (p.Met855Val)	472	ATM	Uncertain significance	749844591	RCV001051966;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137994	108137994	11:g.108137994A>G	-
NM_000051.4(ATM):c.2564T>C (p.Met855Thr)	472	ATM	Uncertain significance	587779824	RCV000115158\|RCV000565873\|RCV000698456\|RCV002288587;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108137995	108137995	NC_000011.9:g.108137995T>C	ClinGen:CA286763	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2565G>C (p.Met855Ile)	472	ATM	Uncertain significance	2081308163	RCV001340917\|RCV003169619;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137996	108137996	108137996	-
NM_000051.4(ATM):c.2565G>T (p.Met855Ile)	472	ATM	Uncertain significance	2081308163	RCV001366005;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137996	108137996	108137996	-
NM_000051.4(ATM):c.2566_2569dup (p.Leu857fs)	472	ATM	Pathogenic	2135507893	RCV001956196\|RCV002425328;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137996	108137997	108137996	-
NM_000051.4(ATM):c.2567dup (p.Asn856fs)	472	ATM	Pathogenic	-1	RCV002898848;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137996	108137997	NC_000011.9:g.108137998dup	-
NM_000051.4(ATM):c.2566A>G (p.Asn856Asp)	472	ATM	Uncertain significance	774757757	RCV001337342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137997	108137997	108137997	-
NM_000051.4(ATM):c.2566A>C (p.Asn856His)	472	ATM	Uncertain significance	774757757	RCV001997128\|RCV002425317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108137997	108137997	108137997	-
NM_000051.4(ATM):c.2566A>T (p.Asn856Tyr)	472	ATM	Uncertain significance	-1	RCV002942627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137997	108137997	NC_000011.9:g.108137997A>T	-
NM_000051.4(ATM):c.2567A>G (p.Asn856Ser)	472	ATM	Conflicting interpretations of pathogenicity	1555082253	RCV000584604\|RCV001320169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108137998	108137998	NC_000011.9:g.108137998A>G	ClinGen:CA382543835	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2569C>G (p.Leu857Val)	472	ATM	Uncertain significance	876659486	RCV000215421\|RCV000236914\|RCV001221171\|RCV002478797;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108138000	108138000	11:g.108138000C>G	ClinGen:CA10579062	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2572_2575del (p.Phe858fs)	472	ATM	Pathogenic	1131691148	RCV000493923\|RCV001856954;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138001	108138004	NC_000011.9:g.108138003_108138006del	ClinGen:CA645369498	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2574dup (p.Asn859Ter)	472	ATM	Pathogenic	587778068	RCV000120125\|RCV001388986\|RCV001729397\|RCV002453439\|RCV003315724;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138002	108138003	11:g.108138002_108138003insT	ClinGen:CA157082	CN169374 not specified;
NM_000051.4(ATM):c.2571A>G (p.Leu857=)	472	ATM	Likely benign	1191404395	RCV000582010\|RCV000938089\|RCV001722538;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108138002	108138002	NC_000011.9:g.108138002A>G	ClinGen:CA476673634	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu)	472	ATM	Benign/Likely benign	1800056	RCV000119188\|RCV000120127\|RCV000131019\|RCV000415872\|RCV001357283\|RCV001568359\|RCV001798374\|RCV002225352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0002032,MedGen:C0699790\|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontolog	11	108138003	108138003	11:g.108138003T>C	ClinGen:CA157086,UniProtKB:Q13315#VAR_010814	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2574T>G (p.Phe858Leu)	472	ATM	Benign	2081309060	RCV001509655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138005	108138005	108138005	-
NM_000051.4(ATM):c.2575A>G (p.Asn859Asp)	472	ATM	Uncertain significance	-1	RCV003057053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138006	108138006	NC_000011.9:g.108138006A>G	-
NM_000051.4(ATM):c.2576A>G (p.Asn859Ser)	472	ATM	Uncertain significance	1565416655	RCV000707214\|RCV001772014\|RCV002458324;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138007	108138007	11:g.108138007A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2577C>T (p.Asn859=)	472	ATM	Benign/Likely benign	730881286	RCV000159609\|RCV000196352\|RCV000215114\|RCV001086712;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138008	108138008	NC_000011.9:g.108138008C>T	ClinGen:CA297993	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2578G>A (p.Asp860Asn)	472	ATM	Uncertain significance	587779825	RCV000115159\|RCV000534079\|RCV000580576\|RCV003460801;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138009	108138009	NC_000011.9:g.108138009G>A	ClinGen:CA286766	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2578G>C (p.Asp860His)	472	ATM	Uncertain significance	587779825	RCV000780907\|RCV001016001\|RCV001275695;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138009	108138009	NC_000011.9:g.108138009G>C	-
NM_000051.4(ATM):c.2579A>T (p.Asp860Val)	472	ATM	Uncertain significance	761251711	RCV000232136\|RCV000479651\|RCV000574247\|RCV002503882\|RCV003238746\|RCV003417802;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108138010	108138010	NC_000011.9:g.108138010A>T	ClinGen:CA6265063	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2579A>G (p.Asp860Gly)	472	ATM	Uncertain significance	761251711	RCV000563848\|RCV000627857\|RCV001770508\|RCV003476327;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138010	108138010	NC_000011.9:g.108138010A>G	ClinGen:CA228406449	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2579del (p.Asp860fs)	472	ATM	Pathogenic	-1	RCV003026525;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138010	108138010	NC_000011.9:g.108138010del	-
NM_000051.4(ATM):c.2581T>C (p.Tyr861His)	472	ATM	Uncertain significance	1565416692	RCV000775688\|RCV002535547;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138012	108138012	NC_000011.9:g.108138012T>C	-
NM_000051.4(ATM):c.2581T>A (p.Tyr861Asn)	472	ATM	Uncertain significance	1565416692	RCV000804279\|RCV001805872;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138012	108138012	11:g.108138012T>A	-
NM_000051.4(ATM):c.2582A>G (p.Tyr861Cys)	472	ATM	Uncertain significance	2081309790	RCV001176391\|RCV001230705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138013	108138013	11:g.108138013A>G	-
NM_000051.4(ATM):c.2583C>A (p.Tyr861Ter)	472	ATM	Pathogenic/Likely pathogenic	886039633	RCV000255920\|RCV000797050\|RCV003469202;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138014	108138014	11:g.108138014C>A	ClinGen:CA10588494	CN517202 not provided;
NM_000051.4(ATM):c.2584C>T (p.Pro862Ser)	472	ATM	Uncertain significance	876660537	RCV001016013\|RCV001214880;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138015	108138015	11:g.108138015C>T	-
NM_000051.4(ATM):c.2584C>G (p.Pro862Ala)	472	ATM	Uncertain significance	876660537	RCV001990726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138015	108138015	108138015	-
NM_000051.4(ATM):c.2585C>A (p.Pro862His)	472	ATM	Uncertain significance	1565416725	RCV000694501;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138016	108138016	NC_000011.9:g.108138016C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2587_2589dup (p.Asp863dup)	472	ATM	Uncertain significance	2081310087	RCV001232465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138016	108138017	11:g.108138016_108138017insTGA	-
NM_000051.4(ATM):c.2586T>C (p.Pro862=)	472	ATM	Likely benign	2135508452	RCV001489135\|RCV003298862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138017	108138017	108138017	-
NM_000051.4(ATM):c.2587G>C (p.Asp863His)	472	ATM	Uncertain significance	2135508489	RCV001524038\|RCV002568054;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138018	108138018	108138018	-
NM_000051.4(ATM):c.2587G>A (p.Asp863Asn)	472	ATM	Uncertain significance	2135508489	RCV002043371\|RCV003161209;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138018	108138018	108138018	-
NM_000051.4(ATM):c.2590AGT[1] (p.Ser865del)	472	ATM	Uncertain significance	863224823	RCV000195567\|RCV001015890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138020	108138022	NC_000011.9:g.108138021AGT[1]	ClinGen:CA335768	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2589T>C (p.Asp863=)	472	ATM	Likely benign	1057520227	RCV000426213\|RCV000456866\|RCV000773090;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138020	108138020	11:g.108138020T>C	ClinGen:CA16605775	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2590A>G (p.Ser864Gly)	472	ATM	Uncertain significance	764842086	RCV000220289\|RCV001325433;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138021	108138021	11:g.108138021A>G	ClinGen:CA6265064	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2590A>C (p.Ser864Arg)	472	ATM	Uncertain significance	764842086	RCV000471464;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138021	108138021	NC_000011.9:g.108138021A>C	ClinGen:CA16613294	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2591G>A (p.Ser864Asn)	472	ATM	Uncertain significance	1555082306	RCV000573979\|RCV000692219;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138022	108138022	NC_000011.9:g.108138022G>A	ClinGen:CA382544024	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2593A>C (p.Ser865Arg)	472	ATM	Uncertain significance	2081310612	RCV002246988\|RCV003094049;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138024	108138024	108138024	-
NM_000051.4(ATM):c.2594G>T (p.Ser865Ile)	472	ATM	Uncertain significance	1591588450	RCV001015893\|RCV001832339;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138025	108138025	11:g.108138025G>T	-
NM_000051.4(ATM):c.2594G>A (p.Ser865Asn)	472	ATM	Uncertain significance	1591588450	RCV001867040\|RCV002458660;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138025	108138025	108138025	-
NM_000051.4(ATM):c.2596G>A (p.Val866Ile)	472	ATM	Uncertain significance	2135508700	RCV001874648;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138027	108138027	108138027	-
NM_000051.4(ATM):c.2598T>G (p.Val866=)	472	ATM	Conflicting interpretations of pathogenicity	730881350	RCV000159699\|RCV000562239\|RCV001078605\|RCV001199919;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108138029	108138029	NC_000011.9:g.108138029T>G	ClinGen:CA298179	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2601_2602dup (p.Asp868fs)	472	ATM	Pathogenic	2135508789	RCV001382292;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138030	108138031	108138030	-
NM_000051.4(ATM):c.2600G>A (p.Ser867Asn)	472	ATM	Uncertain significance	1591588485	RCV000809563;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138031	108138031	11:g.108138031G>A	-
NM_000051.4(ATM):c.2603A>G (p.Asp868Gly)	472	ATM	Uncertain significance	750322758	RCV000628116\|RCV000777892;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138034	108138034	NC_000011.9:g.108138034A>G	ClinGen:CA6265065	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2606C>G (p.Ala869Gly)	472	ATM	Conflicting interpretations of pathogenicity	145513717	RCV000164332\|RCV000476653\|RCV000479991\|RCV002225480\|RCV002465546\|RCV003467290;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C03461	11	108138037	108138037	11:g.108138037C>G	ClinGen:CA190672	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2606C>T (p.Ala869Val)	472	ATM	Uncertain significance	145513717	RCV000166230\|RCV000225924\|RCV000487118\|RCV001844060\|RCV003153451;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138037	108138037	11:g.108138037C>T	ClinGen:CA195312	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2606_2607del (p.Ala869fs)	472	ATM	Pathogenic/Likely pathogenic	1057516944	RCV000409497\|RCV000583031;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138037	108138038	NC_000011.9:g.108138037_108138038del	ClinGen:CA16041394	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2606C>A (p.Ala869Glu)	472	ATM	Uncertain significance	145513717	RCV000686514\|RCV000777893;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138037	108138037	NC_000011.9:g.108138037C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp)	472	ATM	Conflicting interpretations of pathogenicity	61734354	RCV000115160\|RCV000168041\|RCV000211984\|RCV000858203\|RCV000767896\|RCV001354304;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108138039	108138039	NC_000011.9:g.108138039A>G	ClinGen:CA286769	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2608A>C (p.Asn870His)	472	ATM	Uncertain significance	61734354	RCV001300207\|RCV002437018;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138039	108138039	108138039	-
NM_000051.4(ATM):c.2609A>G (p.Asn870Ser)	472	ATM	Uncertain significance	2135508997	RCV001893035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138040	108138040	108138040	-
NM_000051.4(ATM):c.2610C>T (p.Asn870=)	472	ATM	Benign/Likely benign	587780618	RCV000122835\|RCV000166331\|RCV000586240\|RCV001650986;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108138041	108138041	NC_000011.9:g.108138041C>T	ClinGen:CA195584	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2610C>G (p.Asn870Lys)	472	ATM	Uncertain significance	587780618	RCV000687890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138041	108138041	11:g.108138041C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2613dup (p.Pro872fs)	472	ATM	Pathogenic	1591588646	RCV000809052\|RCV002440736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138042	108138043	11:g.108138042_108138043insA	-
NM_000051.4(ATM):c.2611G>C (p.Glu871Gln)	472	ATM	Uncertain significance	1591588632	RCV001296770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138042	108138042	108138042	-
NM_000051.4(ATM):c.2612A>G (p.Glu871Gly)	472	ATM	Uncertain significance	2081311812	RCV001048622\|RCV002249655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108138043	108138043	11:g.108138043A>G	-
NM_000051.4(ATM):c.2614C>T (p.Pro872Ser)	472	ATM	Benign	3218673	RCV000120126\|RCV000128879\|RCV000204457\|RCV000224090\|RCV001354699\|RCV002225358\|RCV002221489\|RCV002498555\|RCV003149820;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108138045	108138045	11:g.108138045C>T	ClinGen:CA157083,UniProtKB:Q13315#VAR_041557	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2615C>T (p.Pro872Leu)	472	ATM	Uncertain significance	786202977	RCV000166072\|RCV000196727\|RCV003468771;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138046	108138046	11:g.108138046C>T	ClinGen:CA194919	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2618G>C (p.Gly873Ala)	472	ATM	Uncertain significance	2081312461	RCV001226512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138049	108138049	11:g.108138049G>C	-
NM_000051.4(ATM):c.2618G>A (p.Gly873Glu)	472	ATM	Uncertain significance	2081312461	RCV001358926\|RCV001806141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138049	108138049	108138049	-
NM_000051.4(ATM):c.2618G>T (p.Gly873Val)	472	ATM	Uncertain significance	2081312461	RCV002001039;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138049	108138049	108138049	-
NM_000051.4(ATM):c.2619A>G (p.Gly873=)	472	ATM	Likely benign	777979257	RCV000213816\|RCV000545728;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138050	108138050	11:g.108138050A>G	ClinGen:CA6265068	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2620G>T (p.Glu874Ter)	472	ATM	Pathogenic/Likely pathogenic	1565416901	RCV000698372\|RCV003465603;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138051	108138051	11:g.108138051G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2621A>G (p.Glu874Gly)	472	ATM	Uncertain significance	1555082338	RCV000628038\|RCV002248832;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108138052	108138052	NC_000011.9:g.108138052A>G	ClinGen:CA382544264	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2622G>A (p.Glu874=)	472	ATM	Likely benign	2135509315	RCV002179826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138053	108138053	108138053	-
NM_000051.4(ATM):c.2624G>T (p.Ser875Ile)	472	ATM	Uncertain significance	2081312995	RCV001230437;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138055	108138055	11:g.108138055G>T	-
NM_000051.4(ATM):c.2625C>T (p.Ser875=)	472	ATM	Likely benign	1591588785	RCV001506280\|RCV001525140;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138056	108138056	11:g.108138056C>T	-
NM_000051.4(ATM):c.2625C>G (p.Ser875Arg)	472	ATM	Uncertain significance	1591588785	RCV001867492;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138056	108138056	108138056	-
NM_000051.4(ATM):c.2626C>T (p.Gln876Ter)	472	ATM	Pathogenic	2135509419	RCV001381779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138057	108138057	108138057	-
NM_000051.4(ATM):c.2627A>G (p.Gln876Arg)	472	ATM	Uncertain significance	1555082348	RCV000584480\|RCV000797962\|RCV003465299;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138058	108138058	11:g.108138058A>G	ClinGen:CA11914695	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2628A>G (p.Gln876=)	472	ATM	Likely benign	1339119718	RCV002163660;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138059	108138059	108138059	-
NM_000051.4(ATM):c.2629A>G (p.Ser877Gly)	472	ATM	Uncertain significance	2081313542	RCV001323357\|RCV002438738;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138060	108138060	108138060	-
NM_000051.4(ATM):c.2630G>C (p.Ser877Thr)	472	ATM	Conflicting interpretations of pathogenicity	370269552	RCV000115161\|RCV000211985\|RCV001083203\|RCV001174578\|RCV002288588;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138061	108138061	NC_000011.9:g.108138061G>C	ClinGen:CA286772	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2633C>A (p.Thr878Asn)	472	ATM	Uncertain significance	-1	RCV002829913\|RCV003126259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108138064	108138064	NC_000011.9:g.108138064C>A	-
NM_000051.4(ATM):c.2634C>G (p.Thr878=)	472	ATM	Likely benign	771444818	RCV000575353\|RCV000587958\|RCV000705321;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138065	108138065	NC_000011.9:g.108138065C>G	ClinGen:CA6265069	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2638_2638+7dup	472	ATM	Uncertain significance	2081313995	RCV001066847;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138065	108138066	11:g.108138065_108138066insATAGGTAA	-
NM_000051.4(ATM):c.2635A>G (p.Ile879Val)	472	ATM	Uncertain significance	556598169	RCV000159759\|RCV000469928\|RCV000568728\|RCV003235076;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108138066	108138066	NC_000011.9:g.108138066A>G	ClinGen:CA298339	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2636T>C (p.Ile879Thr)	472	ATM	Uncertain significance	746265230	RCV000235396\|RCV000456860\|RCV000562612\|RCV002288935;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138067	108138067	NC_000011.9:g.108138067T>C	ClinGen:CA6265070	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2637A>G (p.Ile879Met)	472	ATM	Uncertain significance	1449494151	RCV001370344;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138068	108138068	108138068	-
NM_000051.4(ATM):c.2638G>C (p.Gly880Arg)	472	ATM	Uncertain significance	2135509665	RCV002045343\|RCV003303619;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138069	108138069	108138069	-
NM_000051.4(ATM):c.2638G>A (p.Gly880Ser)	472	ATM	Uncertain significance	-1	RCV002428614\|RCV003102054;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138069	108138069	108138069	-
NM_000051.4(ATM):c.2638+1G>T	472	ATM	Pathogenic/Likely pathogenic	2135509713	RCV001376915\|RCV002432057\|RCV003169932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108138070	108138070	108138070	-
NM_000051.4(ATM):c.2638+2T>C	472	ATM	Pathogenic/Likely pathogenic	587779826	RCV000115162\|RCV000211986\|RCV000477335\|RCV001171402\|RCV003330437;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108138071	108138071	NC_000011.9:g.108138071T>C	ClinGen:CA286775	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2638+3A>G	472	ATM	Conflicting interpretations of pathogenicity	876660552	RCV000218625\|RCV000558132\|RCV001722199;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108138072	108138072	11:g.108138072A>G	ClinGen:CA10579064	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2638+5A>G	472	ATM	Uncertain significance	2081314537	RCV001175810\|RCV002558792;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138074	108138074	11:g.108138074A>G	-
NM_000051.4(ATM):c.2638+6T>C	472	ATM	Conflicting interpretations of pathogenicity	768305533	RCV000474452\|RCV000579264\|RCV000584345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138075	108138075	NC_000011.9:g.108138075T>C	ClinGen:CA6265071	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2638+7A>G	472	ATM	Likely benign	1555082379	RCV000534431\|RCV000582190;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138076	108138076	11:g.108138076A>G	ClinGen:CA658656245	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2638+8C>T	472	ATM	Likely benign	776116433	RCV000475813\|RCV000583756;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108138077	108138077	NC_000011.9:g.108138077C>T	ClinGen:CA6265072	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2638+9A>G	472	ATM	Benign/Likely benign	761592414	RCV000471751\|RCV001182719\|RCV001653845\|RCV002225627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108138078	108138078	NC_000011.9:g.108138078A>G	ClinGen:CA6265073	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2638+9A>C	472	ATM	Likely benign	761592414	RCV000772218\|RCV001447933;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138078	108138078	NC_000011.9:g.108138078A>C	-
NM_000051.4(ATM):c.2638+9A>T	472	ATM	Likely benign	761592414	RCV001449027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138078	108138078	108138078	-
NM_000051.4(ATM):c.2638+11A>G	472	ATM	Likely benign	1057521911	RCV000423929\|RCV000580765\|RCV002062700;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138080	108138080	11:g.108138080A>G	ClinGen:CA16606044	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2638+16C>A	472	ATM	Likely benign	1386019726	RCV000777456\|RCV002068533;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138085	108138085	NC_000011.9:g.108138085C>A	-
NM_000051.4(ATM):c.2638+18A>G	472	ATM	Likely benign	1057521739	RCV000424189\|RCV002521648;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138087	108138087	11:g.108138087A>G	ClinGen:CA16606789	CN169374 not specified;
NM_000051.4(ATM):c.2638+18A>T	472	ATM	Likely benign	1057521739	RCV002220411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138087	108138087	108138087	-
NM_000051.4(ATM):c.2638+19C>A	472	ATM	Likely benign	1439350674	RCV000583778\|RCV002060588;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138088	108138088	11:g.108138088C>A	ClinGen:CA601698004	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2638+19C>G	472	ATM	Likely benign	-1	RCV003090253;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138088	108138088	NC_000011.9:g.108138088C>G	-
NM_000051.4(ATM):c.2639-384A>G	472	ATM	Pathogenic/Likely pathogenic	1131691154	RCV000493875\|RCV001271168\|RCV003464062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108138753	108138753	11:g.108138753A>G	ClinGen:CA601698081	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2639-384A>T	472	ATM	Likely benign	1131691154	RCV000581486\|RCV002530777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108138753	108138753	11:g.108138753A>T	ClinGen:CA658683751	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2639-27_2639-22del	472	ATM	Benign/Likely benign	4987971	RCV001581528\|RCV002225863\|RCV001827514\|RCV003321857;	N	MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108139107	108139112	108139106	-
NM_000051.4(ATM):c.2639-19_2639-7del	472	ATM	Pathogenic/Likely pathogenic	1591593439	RCV001016158\|RCV001175054;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139116	108139128	11:g.108139116_108139128del	-
NM_000051.4(ATM):c.2639-20T>C	472	ATM	Likely benign	2135522472	RCV002125171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139117	108139117	108139117	-
NM_000051.4(ATM):c.2639-20T>A	472	ATM	Likely benign	-1	RCV003068481;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139117	108139117	NC_000011.9:g.108139117T>A	-
NM_000051.4(ATM):c.2639-17G>T	472	ATM	Benign	2234994	RCV000128881\|RCV000243374\|RCV001711295\|RCV001522608\|RCV002221493\|RCV002225414\|RCV003149879;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0003582,MeSH:D06132	11	108139120	108139120	11:g.108139120G>T	ClinGen:CA163513	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2639-17G>A	472	ATM	Likely benign	-1	RCV002790665;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139120	108139120	NC_000011.9:g.108139120G>A	-
NM_000051.4(ATM):c.2639-15G>A	472	ATM	Likely benign	757723219	RCV002093114;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139122	108139122	108139122	-
NM_000051.4(ATM):c.2639-13T>C	472	ATM	Likely benign	-1	RCV002872673;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139124	108139124	NC_000011.9:g.108139124T>C	-
NM_000051.4(ATM):c.2639-9T>G	472	ATM	Likely benign	1457466709	RCV000583938\|RCV000925359;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139128	108139128	11:g.108139128T>G	ClinGen:CA602132629	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2639-8del	472	ATM	Likely benign	2135522747	RCV001403501;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139129	108139129	108139128	-
NM_000051.4(ATM):c.2639-8A>G	472	ATM	Likely benign	779419160	RCV002152068;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139129	108139129	108139129	-
NM_000051.4(ATM):c.2639-7T>C	472	ATM	Likely benign	912886321	RCV000471650\|RCV000859625\|RCV001177843;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139130	108139130	11:g.108139130T>C	ClinGen:CA16606045	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2639-4_2639-3del	472	ATM	Uncertain significance	1555083075	RCV000527769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139130	108139131	11:g.108139130_108139131del	ClinGen:CA658656247	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2639-7T>G	472	ATM	Uncertain significance	912886321	RCV001303704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139130	108139130	108139130	-
NM_000051.4(ATM):c.2639-6T>G	472	ATM	Uncertain significance	-1	RCV002881480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139131	108139131	NC_000011.9:g.108139131T>G	-
NM_000051.4(ATM):c.2639-3T>C	472	ATM	Conflicting interpretations of pathogenicity	1410247657	RCV000551479\|RCV001683551\|RCV001805140;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139134	108139134	11:g.108139134T>C	ClinGen:CA602132630	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2639-2A>G	472	ATM	Likely pathogenic	1591593566	RCV001236243;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139135	108139135	11:g.108139135A>G	-
NM_000051.4(ATM):c.2639-1G>A	472	ATM	Likely pathogenic	-1	RCV003238161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139136	108139136		-
NM_000051.4(ATM):c.2639G>C (p.Gly880Ala)	472	ATM	Uncertain significance	2135522879	RCV002018456\|RCV002425420;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139137	108139137	108139137	-
NM_000051.4(ATM):c.2643dup (p.Ile882fs)	472	ATM	Pathogenic	-1	RCV002885291;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139139	108139140	NC_000011.9:g.108139141dup	-
NM_000051.4(ATM):c.2646T>C (p.Ile882=)	472	ATM	Likely benign	1591593585	RCV000862317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139144	108139144	11:g.108139144T>C	-
NM_000051.4(ATM):c.2646T>A (p.Ile882=)	472	ATM	Likely benign	1591593585	RCV002150301;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139144	108139144	108139144	-
NM_000051.4(ATM):c.2647A>G (p.Asn883Asp)	472	ATM	Uncertain significance	587782382	RCV000131386\|RCV001057077;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139145	108139145	11:g.108139145A>G	ClinGen:CA168067	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2648A>G (p.Asn883Ser)	472	ATM	Uncertain significance	2081380347	RCV001300315;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139146	108139146	108139146	-
NM_000051.4(ATM):c.2649T>G (p.Asn883Lys)	472	ATM	Uncertain significance	1555083093	RCV000567976\|RCV000628030;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139147	108139147	NC_000011.9:g.108139147T>G	ClinGen:CA382545015	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2650C>G (p.Pro884Ala)	472	ATM	Uncertain significance	1591593623	RCV000800227\|RCV001358449\|RCV002458456;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139148	108139148	11:g.108139148C>G	-
NM_000051.4(ATM):c.2650C>T (p.Pro884Ser)	472	ATM	Uncertain significance	1591593623	RCV001756548\|RCV003107840;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139148	108139148	108139148	-
NM_000051.4(ATM):c.2654_2656delinsAA (p.Leu885_Ala886delinsTer)	472	ATM	Pathogenic	1060501679	RCV000473232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139152	108139154	NC_000011.9:g.108139152_108139154delinsAA	ClinGen:CA16613374	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2654T>G (p.Leu885Ter)	472	ATM	Pathogenic	1555083096	RCV000535837;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139152	108139152	NC_000011.9:g.108139152T>G	ClinGen:CA382545038	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2655A>T (p.Leu885Phe)	472	ATM	Uncertain significance	730881351	RCV000159700\|RCV000456359\|RCV000565271\|RCV001251294;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108139153	108139153	NC_000011.9:g.108139153A>T	ClinGen:CA298182	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2656G>T (p.Ala886Ser)	472	ATM	Uncertain significance	575762025	RCV001246137\|RCV002430043;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139154	108139154	11:g.108139154G>T	-
NM_000051.4(ATM):c.2658T>C (p.Ala886=)	472	ATM	Likely benign	1591593665	RCV001016233\|RCV001439980;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139156	108139156	11:g.108139156T>C	-
NM_000051.4(ATM):c.2660A>C (p.Glu887Ala)	472	ATM	Uncertain significance	-1	RCV003054413;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139158	108139158	NC_000011.9:g.108139158A>C	-
NM_000051.4(ATM):c.2662G>C (p.Glu888Gln)	472	ATM	Uncertain significance	879254083	RCV000480752\|RCV000548332\|RCV001183710;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139160	108139160	11:g.108139160G>C	ClinGen:CA16619144	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2664A>G (p.Glu888=)	472	ATM	Likely benign	2135523410	RCV001494972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139162	108139162	108139162	-
NM_000051.4(ATM):c.2665dup (p.Tyr889fs)	472	ATM	Pathogenic	2135523450	RCV002007301;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139162	108139163	108139162	-
NM_000051.4(ATM):c.2667T>A (p.Tyr889Ter)	472	ATM	Pathogenic/Likely pathogenic	2081381578	RCV001054612\|RCV003462563;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139165	108139165	11:g.108139165T>A	-
NM_000051.4(ATM):c.2667T>C (p.Tyr889=)	472	ATM	Likely benign	2081381578	RCV002159585\|RCV002441248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139165	108139165	108139165	-
NM_000051.4(ATM):c.2668C>G (p.Leu890Val)	472	ATM	Uncertain significance	937133424	RCV000817109\|RCV002427024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139166	108139166	11:g.108139166C>G	-
NM_000051.4(ATM):c.2669T>C (p.Leu890Pro)	472	ATM	Uncertain significance	1411479824	RCV001038800\|RCV003396635;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108139167	108139167	11:g.108139167T>C	-
NM_000051.4(ATM):c.2669T>G (p.Leu890Arg)	472	ATM	Uncertain significance	1411479824	RCV001988351;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139167	108139167	108139167	-
NM_000051.4(ATM):c.2672C>G (p.Ser891Ter)	472	ATM	Pathogenic	876660780	RCV000218040\|RCV000657742\|RCV000697837\|RCV003463596;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139170	108139170	11:g.108139170C>G	ClinGen:CA10579065	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2672C>T (p.Ser891Leu)	472	ATM	Uncertain significance	876660780	RCV001961280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139170	108139170	108139170	-
NM_000051.4(ATM):c.2676G>T (p.Lys892Asn)	472	ATM	Uncertain significance	1555083128	RCV000627994\|RCV000772578;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139174	108139174	11:g.108139174G>T	ClinGen:CA382545123	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2676G>A (p.Lys892=)	472	ATM	Likely benign	1555083128	RCV001461379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139174	108139174	108139174	-
NM_000051.4(ATM):c.2677C>T (p.Gln893Ter)	472	ATM	Pathogenic	1555083131	RCV000628097\|RCV002438616\|RCV003459480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139175	108139175	NC_000011.9:g.108139175C>T	ClinGen:CA382545129	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2678A>G (p.Gln893Arg)	472	ATM	Uncertain significance	876659776	RCV000218245\|RCV000528022;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139176	108139176	11:g.108139176A>G	ClinGen:CA10579066	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2679A>G (p.Gln893=)	472	ATM	Likely benign	139316519	RCV000163711\|RCV000436908\|RCV000471953\|RCV001200382;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108139177	108139177	11:g.108139177A>G	ClinGen:CA189011	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2679A>T (p.Gln893His)	472	ATM	Uncertain significance	139316519	RCV000566872\|RCV001829604;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139177	108139177	NC_000011.9:g.108139177A>T	ClinGen:CA382545135	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2680G>T (p.Asp894Tyr)	472	ATM	Uncertain significance	1400094698	RCV001016314\|RCV001175527\|RCV001324640;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139178	108139178	11:g.108139178G>T	-
NM_000051.4(ATM):c.2681A>T (p.Asp894Val)	472	ATM	Uncertain significance	113482790	RCV000572676\|RCV000698060\|RCV003459272;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139179	108139179	NC_000011.9:g.108139179A>T	ClinGen:CA382545147	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2681A>G (p.Asp894Gly)	472	ATM	Uncertain significance	113482790	RCV000628040;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139179	108139179	NC_000011.9:g.108139179A>G	ClinGen:CA228407571	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2683C>A (p.Leu895Ile)	472	ATM	Uncertain significance	1299030225	RCV000628050\|RCV002431836;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139181	108139181	11:g.108139181C>A	ClinGen:CA382545154	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2685A>G (p.Leu895=)	472	ATM	Benign	3218687	RCV000128898\|RCV000205569\|RCV000679105\|RCV000710668\|RCV001355890\|RCV002225418\|RCV003149882\|RCV003315863;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108139183	108139183	11:g.108139183A>G	ClinGen:CA163524	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2686C>G (p.Leu896Val)	472	ATM	Uncertain significance	747696133	RCV000809863;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139184	108139184	11:g.108139184C>G	-
NM_000051.4(ATM):c.2686C>T (p.Leu896Phe)	472	ATM	Uncertain significance	747696133	RCV001526322\|RCV001873702;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139184	108139184	108139184	-
NM_000051.4(ATM):c.2686C>A (p.Leu896Ile)	472	ATM	Uncertain significance	-1	RCV003046489;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139184	108139184	NC_000011.9:g.108139184C>A	-
NM_000051.4(ATM):c.2688T>C (p.Leu896=)	472	ATM	Likely benign	769490863	RCV000218895\|RCV001436767;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139186	108139186	11:g.108139186T>C	ClinGen:CA6265096	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2689T>A (p.Phe897Ile)	472	ATM	Uncertain significance	147122522	RCV000168176\|RCV000216207\|RCV000479768\|RCV000763690\|RCV001798602\|RCV002288773\|RCV002281989;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108139187	108139187	NC_000011.9:g.108139187T>A	ClinGen:CA334390	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2690T>C (p.Phe897Ser)	472	ATM	Uncertain significance	876658373	RCV000217663\|RCV001216775;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139188	108139188	11:g.108139188T>C	ClinGen:CA10579067	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2691C>G (p.Phe897Leu)	472	ATM	Uncertain significance	878853496	RCV000228851;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139189	108139189	NC_000011.9:g.108139189C>G	ClinGen:CA10582806	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2692T>G (p.Leu898Val)	472	ATM	Uncertain significance	2135524133	RCV001900378\|RCV002425154;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139190	108139190	108139190	-
NM_000051.4(ATM):c.2693T>G (p.Leu898Ter)	472	ATM	Pathogenic	770610463	RCV000540461\|RCV002431498;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139191	108139191	NC_000011.9:g.108139191T>G	ClinGen:CA382545194	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2694A>T (p.Leu898Phe)	472	ATM	Uncertain significance	774395596	RCV000198614\|RCV000565447;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139192	108139192	11:g.108139192A>T	ClinGen:CA338049	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2694A>C (p.Leu898Phe)	472	ATM	Uncertain significance	774395596	RCV000524693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139192	108139192	11:g.108139192A>C	ClinGen:CA6265099	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2695G>C (p.Asp899His)	472	ATM	Uncertain significance	-1	RCV002908725;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139193	108139193	NC_000011.9:g.108139193G>C	-
NM_000051.4(ATM):c.2696A>G (p.Asp899Gly)	472	ATM	Uncertain significance	1555083190	RCV000541952\|RCV001016334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139194	108139194	NC_000011.9:g.108139194A>G	ClinGen:CA382545207	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2697C>T (p.Asp899=)	472	ATM	Likely benign	786202978	RCV000166073\|RCV000875000\|RCV001721077;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108139195	108139195	11:g.108139195C>T	ClinGen:CA194922	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2697C>G (p.Asp899Glu)	472	ATM	Uncertain significance	786202978	RCV001016337\|RCV001271169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139195	108139195	11:g.108139195C>G	-
NM_000051.4(ATM):c.2698A>G (p.Met900Val)	472	ATM	Uncertain significance	138468963	RCV000165046\|RCV000231617\|RCV003468729;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139196	108139196	11:g.108139196A>G	ClinGen:CA192385	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2699T>C (p.Met900Thr)	472	ATM	Uncertain significance	863224558	RCV000199775\|RCV000484957\|RCV000563645;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139197	108139197	11:g.108139197T>C	ClinGen:CA338855	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2700dup (p.Leu901fs)	472	ATM	Pathogenic	1555083198	RCV000548681;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139197	108139198	11:g.108139197_108139198insG	ClinGen:CA658656253	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2700G>A (p.Met900Ile)	472	ATM	Uncertain significance	1591593939	RCV000811032\|RCV001016353\|RCV001729709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108139198	108139198	11:g.108139198G>A	-
NM_000051.4(ATM):c.2701C>T (p.Leu901Phe)	472	ATM	Uncertain significance	863224559	RCV000196194\|RCV002426946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139199	108139199	NC_000011.9:g.108139199C>T	ClinGen:CA336223	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2703C>G (p.Leu901=)	472	ATM	Likely benign	1315907364	RCV000572301\|RCV000982812\|RCV001174748;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108139201	108139201	NC_000011.9:g.108139201C>G	ClinGen:CA476673821	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2703C>T (p.Leu901=)	472	ATM	Likely benign	1315907364	RCV000567891\|RCV001405598;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139201	108139201	NC_000011.9:g.108139201C>T	ClinGen:CA476673822	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2704A>G (p.Lys902Glu)	472	ATM	Uncertain significance	2135524412	RCV001945894\|RCV003464248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139202	108139202	108139202	-
NM_000051.4(ATM):c.2706G>A (p.Lys902=)	472	ATM	Likely benign	2135524458	RCV001408913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139204	108139204	108139204	-
NM_000051.4(ATM):c.2708T>G (p.Phe903Cys)	472	ATM	Uncertain significance	1555083208	RCV000628070;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139206	108139206	NC_000011.9:g.108139206T>G	ClinGen:CA382545260	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2708T>A (p.Phe903Tyr)	472	ATM	Uncertain significance	-1	RCV002933696;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139206	108139206	NC_000011.9:g.108139206T>A	-
NM_000051.4(ATM):c.2709C>T (p.Phe903=)	472	ATM	Likely benign	2135524508	RCV001437489;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139207	108139207	108139207	-
NM_000051.4(ATM):c.2712G>A (p.Leu904=)	472	ATM	Likely benign	1409179618	RCV001177445\|RCV001443568;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139210	108139210	11:g.108139210G>A	-
NM_000051.4(ATM):c.2715T>G (p.Cys905Trp)	472	ATM	Uncertain significance	2081385130	RCV001298894\|RCV002430095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139213	108139213	108139213	-
NM_000051.4(ATM):c.2716T>C (p.Leu906=)	472	ATM	Likely benign	368047468	RCV000571764\|RCV002530244;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139214	108139214	NC_000011.9:g.108139214T>C	ClinGen:CA228407645	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2716T>A (p.Leu906Met)	472	ATM	Conflicting interpretations of pathogenicity	368047468	RCV000562509\|RCV000628118\|RCV000679106\|RCV003321672;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108139214	108139214	NC_000011.9:g.108139214T>A	ClinGen:CA382545292	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2720_2723del (p.Leu906_Cys907insTer)	472	ATM	Pathogenic	786202695	RCV000165633\|RCV000193120\|RCV003468749;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139215	108139218	11:g.108139215_108139218del	ClinGen:CA193874	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2717T>C (p.Leu906Ser)	472	ATM	Uncertain significance	1064794688	RCV000484592\|RCV000810554\|RCV002431403;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139215	108139215	11:g.108139215T>C	ClinGen:CA16619146	CN169374 not specified;
NM_000051.4(ATM):c.2719T>C (p.Cys907Arg)	472	ATM	Uncertain significance	2135524707	RCV001968155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139217	108139217	108139217	-
NM_000051.4(ATM):c.2720G>T (p.Cys907Phe)	472	ATM	Uncertain significance	775371838	RCV000164800\|RCV000229155\|RCV000780919\|RCV000763691\|RCV002266928;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108139218	108139218	11:g.108139218G>T	ClinGen:CA191793	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2720G>A (p.Cys907Tyr)	472	ATM	Uncertain significance	775371838	RCV000702516\|RCV002424694\|RCV003155290;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108139218	108139218	NC_000011.9:g.108139218G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2720del (p.Cys907fs)	472	ATM	Pathogenic	2135524751	RCV001389378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139218	108139218	108139217	-
NM_000051.4(ATM):c.2723T>C (p.Val908Ala)	472	ATM	Uncertain significance	754738085	RCV000235339\|RCV000554420\|RCV000581765\|RCV002487101;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108139221	108139221	NC_000011.9:g.108139221T>C	ClinGen:CA10584334	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2724A>T (p.Val908=)	472	ATM	Likely benign	1555083247	RCV000530747;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139222	108139222	11:g.108139222A>T	ClinGen:CA476673869	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2725A>T (p.Thr909Ser)	472	ATM	Uncertain significance	786203175	RCV000166371\|RCV000628189;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139223	108139223	11:g.108139223A>T	ClinGen:CA195679	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2726C>T (p.Thr909Ile)	472	ATM	Uncertain significance	1555083259	RCV000628163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139224	108139224	11:g.108139224C>T	ClinGen:CA382545335	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2727del (p.Thr910fs)	472	ATM	Pathogenic	1555083267	RCV000657392\|RCV000687447;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139225	108139225	NC_000011.9:g.108139225del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2727T>C (p.Thr909=)	472	ATM	Likely benign	-1	RCV002775282;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139225	108139225		-
NM_000051.4(ATM):c.2728A>G (p.Thr910Ala)	472	ATM	Uncertain significance	1265391373	RCV000538623\|RCV000567965;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139226	108139226	NC_000011.9:g.108139226A>G	ClinGen:CA382545340	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2730_2731insAG (p.Ala911fs)	472	ATM	Pathogenic/Likely pathogenic	1064794437	RCV000483347\|RCV000568352\|RCV001047404\|RCV003476163;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139228	108139229	NC_000011.9:g.108139228_108139229insAG	ClinGen:CA16619147	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2734C>T (p.Gln912Ter)	472	ATM	Pathogenic	764409952	RCV000583244\|RCV001232394;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139232	108139232	NC_000011.9:g.108139232C>T	ClinGen:CA6265104	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2734C>G (p.Gln912Glu)	472	ATM	Uncertain significance	764409952	RCV001048155\|RCV002436587;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139232	108139232	11:g.108139232C>G	-
NM_000051.4(ATM):c.2734C>A (p.Gln912Lys)	472	ATM	Uncertain significance	764409952	RCV001106717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139232	108139232	11:g.108139232C>A	-
NM_000051.4(ATM):c.2735A>G (p.Gln912Arg)	472	ATM	Conflicting interpretations of pathogenicity	730881353	RCV000159702\|RCV000474750\|RCV000567796\|RCV001711426\|RCV003407594;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|	11	108139233	108139233	NC_000011.9:g.108139233A>G	ClinGen:CA298188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2736G>A (p.Gln912=)	472	ATM	Likely benign	757305928	RCV000206178\|RCV001016440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139234	108139234	11:g.108139234G>A	ClinGen:CA350241	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2736G>C (p.Gln912His)	472	ATM	Uncertain significance	-1	RCV003040265;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139234	108139234	NC_000011.9:g.108139234G>C	-
NM_000051.4(ATM):c.2737A>G (p.Thr913Ala)	472	ATM	Uncertain significance	2135525084	RCV001361422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139235	108139235	108139235	-
NM_000051.4(ATM):c.2737A>T (p.Thr913Ser)	472	ATM	Uncertain significance	2135525084	RCV001370932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139235	108139235	108139235	-
NM_000051.4(ATM):c.2738C>A (p.Thr913Asn)	472	ATM	Uncertain significance	1266220962	RCV000627848;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139236	108139236	11:g.108139236C>A	ClinGen:CA382545381	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2738C>T (p.Thr913Ile)	472	ATM	Uncertain significance	1266220962	RCV000797586\|RCV003128702;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108139236	108139236	11:g.108139236C>T	-
NM_000051.4(ATM):c.2739C>T (p.Thr913=)	472	ATM	Likely benign	1555083293	RCV001016449\|RCV001500247;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139237	108139237	11:g.108139237C>T	-
NM_000051.4(ATM):c.2740A>G (p.Asn914Asp)	472	ATM	Uncertain significance	1591594250	RCV000822587;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139238	108139238	11:g.108139238A>G	-
NM_000051.4(ATM):c.2741A>G (p.Asn914Ser)	472	ATM	Uncertain significance	141947469	RCV000693030\|RCV000771456\|RCV001571988;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108139239	108139239	11:g.108139239A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2742T>C (p.Asn914=)	472	ATM	Likely benign	1057520522	RCV000431634\|RCV000983325\|RCV001016467;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139240	108139240	11:g.108139240T>C	ClinGen:CA16606791	CN169374 not specified;
NM_000051.4(ATM):c.2743A>G (p.Thr915Ala)	472	ATM	Uncertain significance	786203106	RCV000166264\|RCV000695920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139241	108139241	11:g.108139241A>G	ClinGen:CA195398	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2744C>A (p.Thr915Asn)	472	ATM	Uncertain significance	876660912	RCV000221056\|RCV000487139\|RCV001218202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139242	108139242	11:g.108139242C>A	ClinGen:CA10579068	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2745T>C (p.Thr915=)	472	ATM	Likely benign	2135525290	RCV002149203;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139243	108139243	108139243	-
NM_000051.4(ATM):c.2746G>A (p.Val916Met)	472	ATM	Uncertain significance	2081388106	RCV001063124;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139244	108139244	11:g.108139244G>A	-
NM_000051.4(ATM):c.2747T>C (p.Val916Ala)	472	ATM	Uncertain significance	-1	RCV002295943;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139245	108139245	108139245	-
NM_000051.4(ATM):c.2749dup (p.Ser917fs)	472	ATM	Pathogenic	1555083315	RCV000571702\|RCV001214962;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139246	108139247	NC_000011.9:g.108139247dup	ClinGen:CA658656142	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2748G>T (p.Val916=)	472	ATM	Conflicting interpretations of pathogenicity	1050470790	RCV000609471\|RCV000627946\|RCV001016478;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139246	108139246	11:g.108139246G>T	ClinGen:CA228407709	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2748G>A (p.Val916=)	472	ATM	Likely benign	1050470790	RCV002212711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139246	108139246	108139246	-
NM_000051.4(ATM):c.2749T>C (p.Ser917Pro)	472	ATM	Uncertain significance	-1	RCV002302012\|RCV002434630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139247	108139247	108139247	-
NM_000051.4(ATM):c.2750C>T (p.Ser917Phe)	472	ATM	Uncertain significance	2081388548	RCV001058286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139248	108139248	11:g.108139248C>T	-
NM_000051.4(ATM):c.2750C>G (p.Ser917Cys)	472	ATM	Uncertain significance	2081388548	RCV001307381\|RCV002437049;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139248	108139248	108139248	-
NM_000051.4(ATM):c.2751C>G (p.Ser917=)	472	ATM	Likely benign	876659611	RCV000221911\|RCV002057202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139249	108139249	11:g.108139249C>G	ClinGen:CA10579069	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2751C>T (p.Ser917=)	472	ATM	Conflicting interpretations of pathogenicity	876659611	RCV000584244\|RCV001457278;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139249	108139249	11:g.108139249C>T	ClinGen:CA228407711	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2751C>A (p.Ser917=)	472	ATM	Likely benign	-1	RCV003045427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139249	108139249		-
NM_000051.4(ATM):c.2754del (p.Phe918fs)	472	ATM	Pathogenic	786202608	RCV000165502\|RCV000466400\|RCV003330524;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108139250	108139250	11:g.108139250_108139250del	ClinGen:CA193565	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2752T>C (p.Phe918Leu)	472	ATM	Uncertain significance	1060501549	RCV000472182;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139250	108139250	NC_000011.9:g.108139250T>C	ClinGen:CA16613028	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2754T>C (p.Phe918=)	472	ATM	Likely benign	758955717	RCV000980717\|RCV001016508;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139252	108139252	11:g.108139252T>C	-
NM_000051.4(ATM):c.2755A>G (p.Arg919Gly)	472	ATM	Uncertain significance	1591594384	RCV001016510\|RCV001219787;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139253	108139253	11:g.108139253A>G	-
NM_000051.4(ATM):c.2758del (p.Ala920fs)	472	ATM	Pathogenic	2081389278	RCV001071707;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139254	108139254	11:g.108139254_108139254del	-
NM_000051.4(ATM):c.2758G>A (p.Ala920Thr)	472	ATM	Uncertain significance	1555083326	RCV000628204;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139256	108139256	11:g.108139256G>A	ClinGen:CA382545457	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2761G>A (p.Ala921Thr)	472	ATM	Uncertain significance	1565419701	RCV000688002\|RCV000773583\|RCV003320206;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108139259	108139259	11:g.108139259G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2763T>C (p.Ala921=)	472	ATM	Likely benign	1555083334	RCV000562890\|RCV000936976;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139261	108139261	NC_000011.9:g.108139261T>C	ClinGen:CA476673937	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2763T>A (p.Ala921=)	472	ATM	Likely benign	1555083334	RCV001443310\|RCV003365399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139261	108139261	108139261	-
NM_000051.4(ATM):c.2764G>C (p.Asp922His)	472	ATM	Uncertain significance	786201670	RCV000164071\|RCV000530827;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139262	108139262	11:g.108139262G>C	ClinGen:CA189966	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2765A>T (p.Asp922Val)	472	ATM	Uncertain significance	1555083339	RCV000628049\|RCV002438615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139263	108139263	NC_000011.9:g.108139263A>T	ClinGen:CA382545493	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2765A>G (p.Asp922Gly)	472	ATM	Uncertain significance	1555083339	RCV001065904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139263	108139263	11:g.108139263A>G	-
NM_000051.4(ATM):c.2766T>C (p.Asp922=)	472	ATM	Likely benign	2135525790	RCV002164660;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139264	108139264	108139264	-
NM_000051.4(ATM):c.2768T>C (p.Ile923Thr)	472	ATM	Uncertain significance	2081390566	RCV001181086\|RCV001232320;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139266	108139266	11:g.108139266T>C	-
NM_000051.4(ATM):c.2768T>A (p.Ile923Asn)	472	ATM	Uncertain significance	2081390566	RCV001348814\|RCV002438809\|RCV002462951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108139266	108139266	108139266	-
NM_000051.4(ATM):c.2769T>G (p.Ile923Met)	472	ATM	Uncertain significance	2081390749	RCV001048361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139267	108139267	11:g.108139267T>G	-
NM_000051.4(ATM):c.2770C>T (p.Arg924Trp)	472	ATM	Uncertain significance	55723361	RCV000115163\|RCV000232085\|RCV000590158\|RCV000763692\|RCV001549271\|RCV002288589;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108139268	108139268	NC_000011.9:g.108139268C>T	ClinGen:CA286776,UniProtKB:Q13315#VAR_041558	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2771G>A (p.Arg924Gln)	472	ATM	Uncertain significance	587782298	RCV000131181\|RCV000465123\|RCV000483446\|RCV001030524\|RCV001193037\|RCV001252852\|RCV002492511\|RCV003467166;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|Human Phenotype Ontology:HP:00002	11	108139269	108139269	11:g.108139269G>A	ClinGen:CA167726	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2771G>T (p.Arg924Leu)	472	ATM	Uncertain significance	587782298	RCV001066890\|RCV002258124\|RCV003462599;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139269	108139269	11:g.108139269G>T	-
NM_000051.4(ATM):c.2772G>C (p.Arg924=)	472	ATM	Likely benign	777541280	RCV002117554\|RCV002434502;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139270	108139270	108139270	-
NM_000051.4(ATM):c.2775del (p.Lys926fs)	472	ATM	Pathogenic	1060501702	RCV000466879;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139272	108139272	NC_000011.9:g.108139273del	ClinGen:CA16613110	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2775G>T (p.Arg925Ser)	472	ATM	Uncertain significance	1591594506	RCV001362458;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139273	108139273	108139273	-
NM_000051.4(ATM):c.2778A>G (p.Lys926=)	472	ATM	Conflicting interpretations of pathogenicity	372569168	RCV000163247\|RCV000332678\|RCV001706073;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108139276	108139276	11:g.108139276A>G	ClinGen:CA187843	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2779T>C (p.Leu927=)	472	ATM	Likely benign	2135526043	RCV002159028;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139277	108139277	108139277	-
NM_000051.4(ATM):c.2781G>T (p.Leu927Phe)	472	ATM	Uncertain significance	770565353	RCV000569884\|RCV000690607;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139279	108139279	NC_000011.9:g.108139279G>T	ClinGen:CA6265110	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2781G>A (p.Leu927=)	472	ATM	Likely benign	770565353	RCV001400025;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139279	108139279	108139279	-
NM_000051.4(ATM):c.2783del (p.Leu927_Leu928insTer)	472	ATM	Pathogenic	-1	RCV002978985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139280	108139280	NC_000011.9:g.108139281del	-
NM_000051.4(ATM):c.2783T>C (p.Leu928Ser)	472	ATM	Uncertain significance	2081392000	RCV001053747;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139281	108139281	11:g.108139281T>C	-
NM_000051.4(ATM):c.2785A>G (p.Met929Val)	472	ATM	Uncertain significance	774067793	RCV001067901\|RCV003106108;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108139283	108139283	11:g.108139283A>G	-
NM_000051.4(ATM):c.2786T>G (p.Met929Arg)	472	ATM	Uncertain significance	745737218	RCV000560517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139284	108139284	11:g.108139284T>G	ClinGen:CA382545588	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2786T>C (p.Met929Thr)	472	ATM	Uncertain significance	745737218	RCV000574900\|RCV000814807\|RCV003465196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139284	108139284	11:g.108139284T>C	ClinGen:CA6265112	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2786T>A (p.Met929Lys)	472	ATM	Uncertain significance	745737218	RCV001221722\|RCV002436858;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139284	108139284	11:g.108139284T>A	-
NM_000051.4(ATM):c.2788T>A (p.Leu930Ile)	472	ATM	Uncertain significance	2135526232	RCV002026929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139286	108139286	108139286	-
NM_000051.4(ATM):c.2788T>C (p.Leu930=)	472	ATM	Likely benign	2135526232	RCV002157051\|RCV002441246;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139286	108139286	108139286	-
NM_000051.4(ATM):c.2789T>G (p.Leu930Ter)	472	ATM	Pathogenic/Likely pathogenic	786203309	RCV000166556\|RCV000410598\|RCV003462218;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139287	108139287	11:g.108139287T>G	ClinGen:CA196179	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2791A>G (p.Ile931Val)	472	ATM	Uncertain significance	1308253602	RCV000583109\|RCV000821489\|RCV003465300;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139289	108139289	11:g.108139289A>G	ClinGen:CA382545614	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2795A>G (p.Asp932Gly)	472	ATM	Uncertain significance	1060501623	RCV000468493;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139293	108139293	NC_000011.9:g.108139293A>G	ClinGen:CA16613309	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2797T>A (p.Ser933Thr)	472	ATM	Uncertain significance	1060501698	RCV000461440\|RCV000486367\|RCV002436411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139295	108139295	NC_000011.9:g.108139295T>A	ClinGen:CA16613375	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2797T>C (p.Ser933Pro)	472	ATM	Uncertain significance	-1	RCV002441478\|RCV003102226;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139295	108139295	108139295	-
NM_000051.4(ATM):c.2798C>G (p.Ser933Cys)	472	ATM	Uncertain significance	56087610	RCV000544792\|RCV003470666;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139296	108139296	11:g.108139296C>G	ClinGen:CA228407758	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2800A>G (p.Ser934Gly)	472	ATM	Uncertain significance	772054979	RCV000581022\|RCV001853852;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139298	108139298	NC_000011.9:g.108139298A>G	ClinGen:CA6265113	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2801G>C (p.Ser934Thr)	472	ATM	Uncertain significance	1555083387	RCV000628119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139299	108139299	11:g.108139299G>C	ClinGen:CA382545664	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2802C>G (p.Ser934Arg)	472	ATM	Uncertain significance	876659788	RCV000218308\|RCV001041990;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139300	108139300	11:g.108139300C>G	ClinGen:CA10579070	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2803A>C (p.Thr935Pro)	472	ATM	Uncertain significance	35813135	RCV000463156\|RCV002436410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139301	108139301	NC_000011.9:g.108139301A>C	ClinGen:CA16613111	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2803A>G (p.Thr935Ala)	472	ATM	Uncertain significance	35813135	RCV000561287\|RCV000687020;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139301	108139301	NC_000011.9:g.108139301A>G	ClinGen:CA228407759	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2804C>T (p.Thr935Met)	472	ATM	Conflicting interpretations of pathogenicity	3218708	RCV000131651\|RCV000204695\|RCV000211988\|RCV000780917\|RCV001358229\|RCV002291569;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015278,MedGen:C2931038, Orphanet:1333\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:1144	11	108139302	108139302	11:g.108139302C>T	ClinGen:CA294422,UniProtKB:Q13315#VAR_056682	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2804C>G (p.Thr935Arg)	472	ATM	Conflicting interpretations of pathogenicity	3218708	RCV000164443\|RCV000557491\|RCV000779788\|RCV001030525\|RCV003238729;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900	11	108139302	108139302	11:g.108139302C>G	ClinGen:CA190962	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2806_2809dup (p.Glu937fs)	472	ATM	Pathogenic/Likely pathogenic	757237504	RCV000479847\|RCV000567665\|RCV000810916\|RCV002489154\|RCV003470550;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108139302	108139303	NC_000011.9:g.108139304_108139307dup	ClinGen:CA6265114	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2804C>A (p.Thr935Lys)	472	ATM	Uncertain significance	3218708	RCV000691001\|RCV000777372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139302	108139302	NC_000011.9:g.108139302C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2805G>C (p.Thr935=)	472	ATM	Conflicting interpretations of pathogenicity	55934812	RCV000122836\|RCV000123732\|RCV000211989\|RCV000586912\|RCV001357062\|RCV003149832\|RCV003315805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108139303	108139303	NC_000011.9:g.108139303G>C	ClinGen:CA289548	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2805G>A (p.Thr935=)	472	ATM	Likely benign	55934812	RCV000217141\|RCV000438746\|RCV000475989\|RCV002494597;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108139303	108139303	11:g.108139303G>A	ClinGen:CA10579071	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2805G>T (p.Thr935=)	472	ATM	Benign/Likely benign	55934812	RCV000221094\|RCV000419582\|RCV000538068;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139303	108139303	11:g.108139303G>T	ClinGen:CA6265115	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2806C>G (p.Leu936Val)	472	ATM	Uncertain significance	1422401186	RCV000797108\|RCV002440649;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139304	108139304	11:g.108139304C>G	-
NM_000051.4(ATM):c.2806C>T (p.Leu936=)	472	ATM	Likely benign	1422401186	RCV001417164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139304	108139304	108139304	-
NM_000051.4(ATM):c.2808A>G (p.Leu936=)	472	ATM	Likely benign	547791214	RCV000166420\|RCV001454749;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139306	108139306	11:g.108139306A>G	ClinGen:CA195830	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2809G>C (p.Glu937Gln)	472	ATM	Uncertain significance	1565420027	RCV000689682;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139307	108139307	11:g.108139307G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2811A>C (p.Glu937Asp)	472	ATM	Uncertain significance	1060501705	RCV000467358\|RCV001524356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139309	108139309	NC_000011.9:g.108139309A>C	ClinGen:CA16613310	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2812C>G (p.Pro938Ala)	472	ATM	Uncertain significance	1415567368	RCV000564514\|RCV001215408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139310	108139310	NC_000011.9:g.108139310C>G	ClinGen:CA382545731	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2812C>T (p.Pro938Ser)	472	ATM	Uncertain significance	1415567368	RCV001064824;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139310	108139310	11:g.108139310C>T	-
NM_000051.4(ATM):c.2813C>T (p.Pro938Leu)	472	ATM	Conflicting interpretations of pathogenicity	1183804155	RCV001070304\|RCV002225793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108139311	108139311	11:g.108139311C>T	-
NM_000051.4(ATM):c.2815A>G (p.Thr939Ala)	472	ATM	Uncertain significance	864622606	RCV000206243\|RCV000575201\|RCV001558160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108139313	108139313	11:g.108139313A>G	ClinGen:CA350311	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2817del (p.Lys940fs)	472	ATM	Pathogenic	1555083435	RCV000564008\|RCV001224775;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139314	108139314	NC_000011.9:g.108139315del	ClinGen:CA658656148	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2817C>G (p.Thr939=)	472	ATM	Likely benign	1555083440	RCV000569211\|RCV001405197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139315	108139315	11:g.108139315C>G	ClinGen:CA476674035	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2817C>T (p.Thr939=)	472	ATM	Likely benign	1555083440	RCV001393732;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139315	108139315	108139315	-
NM_000051.4(ATM):c.2818A>G (p.Lys940Glu)	472	ATM	Uncertain significance	1064795896	RCV000479895\|RCV000549701\|RCV000771385;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139316	108139316	11:g.108139316A>G	ClinGen:CA16619148	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2819A>G (p.Lys940Arg)	472	ATM	Uncertain significance	762078586	RCV000462202\|RCV003168784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139317	108139317	NC_000011.9:g.108139317A>G	ClinGen:CA6265117	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2819A>T (p.Lys940Ile)	472	ATM	Uncertain significance	762078586	RCV000568067\|RCV000627991\|RCV003226325\|RCV003465222;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139317	108139317	11:g.108139317A>T	ClinGen:CA6265116	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2819A>C (p.Lys940Thr)	472	ATM	Uncertain significance	762078586	RCV000804810\|RCV001016676\|RCV001797799\|RCV003467406;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139317	108139317	11:g.108139317A>C	-
NM_000051.4(ATM):c.2820A>C (p.Lys940Asn)	472	ATM	Uncertain significance	1477142492	RCV002016850;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139318	108139318	108139318	-
NM_000051.4(ATM):c.2822C>T (p.Ser941Phe)	472	ATM	Uncertain significance	1188614092	RCV000708649\|RCV001212700\|RCV001536337;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108139320	108139320	11:g.108139320C>T	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2823C>A (p.Ser941=)	472	ATM	Likely benign	750504746	RCV000471044\|RCV001016696\|RCV001417437;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139321	108139321	11:g.108139321C>A	ClinGen:CA6265118	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2823C>T (p.Ser941=)	472	ATM	Likely benign	750504746	RCV000874188\|RCV002434139;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139321	108139321	11:g.108139321C>T	-
NM_000051.4(ATM):c.2824C>T (p.Leu942Phe)	472	ATM	Uncertain significance	3218688	RCV000167061\|RCV000557551\|RCV000679107;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108139322	108139322	11:g.108139322C>T	ClinGen:CA197400,UniProtKB:Q13315#VAR_056683	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2827C>T (p.His943Tyr)	472	ATM	Uncertain significance	2135527318	RCV002023583;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139325	108139325	108139325	-
NM_000051.4(ATM):c.2828A>C (p.His943Pro)	472	ATM	Uncertain significance	2081396482	RCV001226379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139326	108139326	11:g.108139326A>C	-
NM_000051.4(ATM):c.2829C>A (p.His943Gln)	472	ATM	Uncertain significance	1485943190	RCV001763669\|RCV001868564\|RCV002440859;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139327	108139327	108139327	-
NM_000051.4(ATM):c.2831T>G (p.Leu944Arg)	472	ATM	Uncertain significance	565886680	RCV000203846\|RCV002433901\|RCV003223621;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108139329	108139329	NC_000011.9:g.108139329T>G	ClinGen:CA348149	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2832G>C (p.Leu944=)	472	ATM	Likely benign	2135527476	RCV001498109\|RCV002439195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139330	108139330	108139330	-
NM_000051.4(ATM):c.2833C>T (p.His945Tyr)	472	ATM	Uncertain significance	2081396911	RCV001219589\|RCV002436846;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139331	108139331	11:g.108139331C>T	-
NM_000051.4(ATM):c.2834A>G (p.His945Arg)	472	ATM	Uncertain significance	752053874	RCV000795504\|RCV001526059\|RCV003322822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108139332	108139332	11:g.108139332A>G	-
NM_000051.4(ATM):c.2836A>G (p.Met946Val)	472	ATM	Conflicting interpretations of pathogenicity	587781992	RCV000130397\|RCV000168097\|RCV000485729\|RCV000515251\|RCV000779792\|RCV001356743\|RCV003467147;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108139334	108139334	11:g.108139334A>G	ClinGen:CA166340	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2836A>C (p.Met946Leu)	472	ATM	Uncertain significance	587781992	RCV000198774\|RCV001016568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139334	108139334	NC_000011.9:g.108139334A>C	ClinGen:CA338177	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2838G>T (p.Met946Ile)	472	ATM	Uncertain significance	1317505466	RCV001238542;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139336	108139336	11:g.108139336G>T	-
NM_000051.4(ATM):c.2838+1del	472	ATM	Pathogenic	2081397580	RCV001244687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139336	108139336	11:g.108139336_108139336del	-
NM_000051.4(ATM):c.2838+1G>T	472	ATM	Likely pathogenic	1555083469	RCV000563240\|RCV000628011\|RCV003459314;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139337	108139337	NC_000011.9:g.108139337G>T	ClinGen:CA382545873	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2838+1G>A	472	ATM	Pathogenic/Likely pathogenic	1555083469	RCV002009248\|RCV002441201;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139337	108139337	108139337	-
NM_000051.4(ATM):c.2838+3del	472	ATM	Uncertain significance	-1	RCV002643142;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139339	108139339	NC_000011.9:g.108139339del	-
NM_000051.4(ATM):c.2838+4A>G	472	ATM	Conflicting interpretations of pathogenicity	876659907	RCV000222111\|RCV000779800\|RCV001215325\|RCV003390970\|RCV003462502;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108139340	108139340	11:g.108139340A>G	ClinGen:CA10579072	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2838+5G>A	472	ATM	Uncertain significance	1555083472	RCV000533878;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139341	108139341	11:g.108139341G>A	ClinGen:CA658656150	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2838+5G>T	472	ATM	Uncertain significance	1555083472	RCV001067999;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139341	108139341	11:g.108139341G>T	-
NM_000051.4(ATM):c.2838+6T>C	472	ATM	Conflicting interpretations of pathogenicity	781730571	RCV000995704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139342	108139342	11:g.108139342T>C	-
NM_000051.4(ATM):c.2838+8dup	472	ATM	Likely benign	1364656453	RCV000472125;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139343	108139344	NC_000011.9:g.108139344dup	ClinGen:CA16613311	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2838+8A>G	472	ATM	Likely benign	1295524564	RCV000925978;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139344	108139344	11:g.108139344A>G	-
NM_000051.4(ATM):c.2838+9C>G	472	ATM	Conflicting interpretations of pathogenicity	370160823	RCV000198514\|RCV000427251\|RCV000579471;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139345	108139345	NC_000011.9:g.108139345C>G	ClinGen:CA337973	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2838+9C>T	472	ATM	Conflicting interpretations of pathogenicity	370160823	RCV000456716\|RCV001293473\|RCV001178394;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108139345	108139345	NC_000011.9:g.108139345C>T	ClinGen:CA6265121	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2838+9C>A	472	ATM	Likely benign	370160823	RCV000550897\|RCV000616645\|RCV001811025;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108139345	108139345	11:g.108139345C>A	ClinGen:CA602132594	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2838+10G>A	472	ATM	Conflicting interpretations of pathogenicity	1555083482	RCV000582058\|RCV000600988\|RCV000925335;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139346	108139346	11:g.108139346G>A	ClinGen:CA658683757	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2838+12T>A	472	ATM	Likely benign	-1	RCV003066690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139348	108139348	NC_000011.9:g.108139348T>A	-
NM_000051.4(ATM):c.2838+12T>C	472	ATM	Likely benign	-1	RCV002640575;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139348	108139348	NC_000011.9:g.108139348T>C	-
NM_000051.4(ATM):c.2838+13A>G	472	ATM	Likely benign	778502800	RCV000615474\|RCV002065212;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139349	108139349	11:g.108139349A>G	ClinGen:CA6265122	CN169374 not specified;
NM_000051.4(ATM):c.2838+16T>C	472	ATM	Likely benign	-1	RCV003084410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139352	108139352	NC_000011.9:g.108139352T>C	-
NM_000051.4(ATM):c.2838+17G>T	472	ATM	Likely benign	-1	RCV003112813;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139353	108139353	NC_000011.9:g.108139353G>T	-
NM_000051.4(ATM):c.2838+17G>C	472	ATM	Likely benign	-1	RCV002999476;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139353	108139353	NC_000011.9:g.108139353G>C	-
NM_000051.4(ATM):c.2838+20G>A	472	ATM	Likely benign	1310769991	RCV000583086\|RCV000604270\|RCV002529182;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108139356	108139356	NC_000011.9:g.108139356G>A	ClinGen:CA602132597	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.3(ATM):c.2839-579_2839-576del	472	ATM	Pathogenic/Likely pathogenic	587776552	RCV000003184\|RCV001016574\|RCV001557139\|RCV003137487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141210	108141213	NC_000011.9:g.108141212_108141215del	OMIM:607585.0026,ClinGen:CA252541	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2839-581G>A	472	ATM	Likely benign	2135541843	RCV001445918;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141210	108141210	108141210	-
NC_000011.9:g.(?_108141210)_(108143589_?)del	472	ATM	Pathogenic	-1	RCV001982881;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141210	108143589	-1	-
NM_000051.4(ATM):c.2839-578A>G	472	ATM	Uncertain significance	2135541882	RCV001891433;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141213	108141213	108141213	-
NM_000051.4(ATM):c.2839-577G>A	472	ATM	Likely benign	2135541900	RCV001471235;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141214	108141214	108141214	-
NM_000051.4(ATM):c.2839-577G>C	472	ATM	Likely benign	2135541900	RCV001452276;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141214	108141214	108141214	-
NM_000051.4(ATM):c.2839-18dup	472	ATM	Benign/Likely benign	730881287	RCV000159610\|RCV000666007;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141766	108141767	NC_000011.9:g.108141773dup	ClinGen:CA297996	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2839-18T>C	472	ATM	Likely benign	553155942	RCV000430270\|RCV000773070\|RCV001810880\|RCV002061334;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141773	108141773	11:g.108141773T>C	ClinGen:CA6265129	CN169374 not specified;
NM_000051.4(ATM):c.2839-16C>T	472	ATM	Likely benign	761953913	RCV000418231\|RCV000771871\|RCV002063543;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141775	108141775	11:g.108141775C>T	ClinGen:CA6265130	CN169374 not specified;
NM_000051.4(ATM):c.2839-15C>T	472	ATM	Likely benign	2081545815	RCV001180692\|RCV002068279;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141776	108141776	11:g.108141776C>T	-
NM_000051.4(ATM):c.2839-13C>T	472	ATM	Likely benign	-1	RCV002857889;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141778	108141778	NC_000011.9:g.108141778C>T	-
NM_000051.4(ATM):c.2839-12C>G	472	ATM	Likely benign	-1	RCV003042896;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141779	108141779	NC_000011.9:g.108141779C>G	-
NM_000051.4(ATM):c.2839-11T>A	472	ATM	Likely benign	1429589119	RCV002116257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141780	108141780	108141780	-
NM_000051.4(ATM):c.2839-11T>C	472	ATM	Likely benign	-1	RCV002843868;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141780	108141780	NC_000011.9:g.108141780T>C	-
NM_000051.4(ATM):c.2839-10A>G	472	ATM	Likely benign	770032309	RCV000981003;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141781	108141781	11:g.108141781A>G	-
NC_000011.9:g.(?_108141781)_(108158452_?)del	472	ATM	Pathogenic	-1	RCV001386624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141781	108158452	-1	-
NM_000051.4(ATM):c.2839-8C>A	472	ATM	Conflicting interpretations of pathogenicity	1555084596	RCV000580678\|RCV001471663;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141783	108141783	NC_000011.9:g.108141783C>A	ClinGen:CA658683758	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2839-8C>T	472	ATM	Likely benign	1555084596	RCV001404018;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141783	108141783	108141783	-
NM_000051.4(ATM):c.2839-7A>G	472	ATM	Likely benign	1445472389	RCV000582384\|RCV000613445\|RCV001499375;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141784	108141784	NC_000011.9:g.108141784A>G	ClinGen:CA602132590	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2839-6T>C	472	ATM	Conflicting interpretations of pathogenicity	1338486619	RCV000772803\|RCV001445494;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141785	108141785	NC_000011.9:g.108141785T>C	-
NM_000051.4(ATM):c.2839-5C>A	472	ATM	Likely benign	876660205	RCV000215961\|RCV001406917;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141786	108141786	11:g.108141786C>A	ClinGen:CA10579073	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2839-4T>C	472	ATM	Conflicting interpretations of pathogenicity	1057522619	RCV000527197\|RCV000574947\|RCV001357612;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108141787	108141787	11:g.108141787T>C	ClinGen:CA16605776	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2839-4_2839-3insCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAG	472	ATM	Uncertain significance	-1	RCV003051699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141787	108141788	NC_000011.9:g.108141787_108141788insCATTCAGGACATAGGCGTGGGCAAGGACTTCATGTCCAAAACACCAAAAGCAATGGCAACAAAAGACAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGC	-
NM_000051.4(ATM):c.2839-3_2839delinsGATACTA	472	ATM	Pathogenic/Likely pathogenic	786202148	RCV000164817\|RCV000255634\|RCV000469912\|RCV002505209\|RCV003462150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108141788	108141791	11:g.108141788_108141789insATACTA	ClinGen:CA191853	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.108271077_108271078insTTTTTTTTTTTTTTTTTTGANNNNNNNNNNTAGAGACGGGGTTTCACCGTTTTAGCCGGGATG	472	ATM	Pathogenic	2135547194	RCV001386321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141788	108141789		-
NM_000051.4(ATM):c.2839-2A>G	472	ATM	Pathogenic/Likely pathogenic	1060501703	RCV000464493\|RCV000567298;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141789	108141789	NC_000011.9:g.108141789A>G	ClinGen:CA16613314	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2839-2A>T	472	ATM	Pathogenic	1060501703	RCV001948358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141789	108141789	108141789	-
NM_000051.4(ATM):c.2839-2A>C	472	ATM	Pathogenic	1060501703	RCV001980724;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141789	108141789	108141789	-
NM_000051.4(ATM):c.2839-1_2839del	472	ATM	Pathogenic	2135547229	RCV001390768;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141790	108141791	108141789	-
NM_000051.4(ATM):c.2839-1G>A	472	ATM	Pathogenic	995271490	RCV001961473;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141790	108141790	108141790	-
NM_000051.4(ATM):c.2840dup (p.Tyr947Ter)	472	ATM	Pathogenic	1308599194	RCV001390778;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141791	108141792	108141791	-
NM_000051.4(ATM):c.2840A>G (p.Tyr947Cys)	472	ATM	Uncertain significance	587779827	RCV000115164\|RCV000564185\|RCV001854546\|RCV003415882;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108141792	108141792	NC_000011.9:g.108141792A>G	ClinGen:CA286779	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2841T>C (p.Tyr947=)	472	ATM	Likely benign	1167845678	RCV000776400\|RCV001419617;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141793	108141793	NC_000011.9:g.108141793T>C	-
NM_000051.4(ATM):c.2842C>T (p.Leu948=)	472	ATM	Likely benign	1591602173	RCV001408737\|RCV002434237;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141794	108141794	11:g.108141794C>T	-
NM_000051.4(ATM):c.2842C>G (p.Leu948Val)	472	ATM	Uncertain significance	1591602173	RCV001879019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141794	108141794	108141794	-
NM_000051.4(ATM):c.2843T>A (p.Leu948Gln)	472	ATM	Uncertain significance	2135547361	RCV002441091\|RCV001982548;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141795	108141795	108141795	-
NM_000051.4(ATM):c.2843T>C (p.Leu948Pro)	472	ATM	Uncertain significance	2135547361	RCV001912442;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141795	108141795	108141795	-
NM_000051.4(ATM):c.2844A>G (p.Leu948=)	472	ATM	Likely benign	1555084628	RCV000613582\|RCV001505294\|RCV002438604;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141796	108141796	11:g.108141796A>G	ClinGen:CA476674124	CN169374 not specified;
NM_000051.4(ATM):c.2845A>T (p.Met949Leu)	472	ATM	Uncertain significance	-1	RCV002305289;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141797	108141797	108141797	-
NM_000051.4(ATM):c.2847G>A (p.Met949Ile)	472	ATM	Uncertain significance	1565424213	RCV000777468\|RCV001369013;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141799	108141799	NC_000011.9:g.108141799G>A	-
NM_000051.4(ATM):c.2847G>C (p.Met949Ile)	472	ATM	Uncertain significance	1565424213	RCV002005223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141799	108141799	108141799	-
NM_000051.4(ATM):c.2848C>T (p.Leu950Phe)	472	ATM	Uncertain significance	763064034	RCV000204174\|RCV000219592\|RCV000589680\|RCV000763693\|RCV000855572;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108141800	108141800	NC_000011.9:g.108141800C>T	ClinGen:CA348417	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2848C>G (p.Leu950Val)	472	ATM	Uncertain significance	763064034	RCV000706624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141800	108141800	NC_000011.9:g.108141800C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2849T>G (p.Leu950Arg)	472	ATM	Likely pathogenic	786203054	RCV000166191\|RCV000255989\|RCV000628016\|RCV003468776;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141801	108141801	11:g.108141801T>G	ClinGen:CA195209,UniProtKB:Q13315#VAR_010815	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2849T>A (p.Leu950His)	472	ATM	Uncertain significance	786203054	RCV000707615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141801	108141801	11:g.108141801T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2849T>C (p.Leu950Pro)	472	ATM	Uncertain significance	786203054	RCV001948917\|RCV002441079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141801	108141801	108141801	-
NM_000051.4(ATM):c.2857G>A (p.Glu953Lys)	472	ATM	Uncertain significance	1591602248	RCV000812384\|RCV002440761;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141809	108141809	11:g.108141809G>A	-
NM_000051.4(ATM):c.2858A>C (p.Glu953Ala)	472	ATM	Uncertain significance	2135547667	RCV001360187;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141810	108141810	108141810	-
NM_000051.4(ATM):c.2859G>A (p.Glu953=)	472	ATM	Likely benign	569489729	RCV000539657\|RCV000571955\|RCV001704634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108141811	108141811	11:g.108141811G>A	ClinGen:CA16619149	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2860C>T (p.Leu954Phe)	472	ATM	Uncertain significance	2081549194	RCV001048113;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141812	108141812	11:g.108141812C>T	-
NM_000051.4(ATM):c.2861T>A (p.Leu954His)	472	ATM	Uncertain significance	1555084648	RCV000547855;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141813	108141813	11:g.108141813T>A	ClinGen:CA382546763	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2861T>G (p.Leu954Arg)	472	ATM	Uncertain significance	1555084648	RCV001016815\|RCV001042737;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141813	108141813	11:g.108141813T>G	-
NM_000051.4(ATM):c.2861T>C (p.Leu954Pro)	472	ATM	Uncertain significance	-1	RCV003055364;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141813	108141813	NC_000011.9:g.108141813T>C	-
NM_000051.4(ATM):c.2862T>C (p.Leu954=)	472	ATM	Likely benign	1426256662	RCV000628290\|RCV002438618;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141814	108141814	NC_000011.9:g.108141814T>C	ClinGen:CA476674148	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2862T>G (p.Leu954=)	472	ATM	Likely benign	1426256662	RCV001485316\|RCV002439164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141814	108141814	108141814	-
NM_000051.4(ATM):c.2864C>A (p.Pro955His)	472	ATM	Uncertain significance	1591602301	RCV000805152;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141816	108141816	11:g.108141816C>A	-
NM_000051.4(ATM):c.2865T>C (p.Pro955=)	472	ATM	Likely benign	1555084654	RCV000607708\|RCV001016826\|RCV002063317;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141817	108141817	11:g.108141817T>C	ClinGen:CA476674151	CN169374 not specified;
NM_000051.4(ATM):c.2867del (p.Gly956fs)	472	ATM	Pathogenic	2135547839	RCV001389863\|RCV003355451;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141818	108141818	108141817	-
NM_000051.4(ATM):c.2867G>A (p.Gly956Glu)	472	ATM	Uncertain significance	752099312	RCV000478258\|RCV000695265\|RCV001182721\|RCV002465686;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108141819	108141819	11:g.108141819G>A	ClinGen:CA6265134	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2871A>G (p.Glu957=)	472	ATM	Likely benign	863224291	RCV001432728;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141823	108141823	NC_000011.9:g.108141823A>G	ClinGen:CA339529	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2873A>G (p.Glu958Gly)	472	ATM	Conflicting interpretations of pathogenicity	587778069	RCV000120128\|RCV000159703\|RCV000528438\|RCV000766496\|RCV001355117;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	11	108141825	108141825	11:g.108141825A>G	ClinGen:CA157089	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2874G>A (p.Glu958=)	472	ATM	Likely benign	1555084671	RCV000570674\|RCV002526816;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141826	108141826	NC_000011.9:g.108141826G>A	ClinGen:CA476674160	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2876A>C (p.Tyr959Ser)	472	ATM	Uncertain significance	1591602381	RCV000809659;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141828	108141828	11:g.108141828A>C	-
NM_000051.4(ATM):c.2880del (p.Leu961fs)	472	ATM	Pathogenic/Likely pathogenic	730881300	RCV000159629\|RCV000412201\|RCV000497266;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108141829	108141829	NC_000011.9:g.108141832del	ClinGen:CA298014	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2877C>G (p.Tyr959Ter)	472	ATM	Likely pathogenic	1057517253	RCV000409221\|RCV003168595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108141829	108141829	11:g.108141829C>G	ClinGen:CA16041395	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2877C>A (p.Tyr959Ter)	472	ATM	Pathogenic	1057517253	RCV000793034;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141829	108141829	11:g.108141829C>A	-
NM_000051.4(ATM):c.2877C>T (p.Tyr959=)	472	ATM	Likely benign	1057517253	RCV001415877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141829	108141829	108141829	-
NM_000051.4(ATM):c.2878C>A (p.Pro960Thr)	472	ATM	Uncertain significance	876659412	RCV000216506\|RCV000468166;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141830	108141830	11:g.108141830C>A	ClinGen:CA10579074	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2879C>T (p.Pro960Leu)	472	ATM	Uncertain significance	587779828	RCV000115165\|RCV000539892\|RCV000575625;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141831	108141831	NC_000011.9:g.108141831C>T	ClinGen:CA286782	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2879C>A (p.Pro960His)	472	ATM	Conflicting interpretations of pathogenicity	587779828	RCV000206872\|RCV000217962\|RCV001030526\|RCV001174579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108141831	108141831	11:g.108141831C>A	ClinGen:CA350856	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2879C>G (p.Pro960Arg)	472	ATM	Uncertain significance	587779828	RCV001054917\|RCV002256667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141831	108141831	11:g.108141831C>G	-
NM_000051.4(ATM):c.2880C>T (p.Pro960=)	472	ATM	Likely benign	1591602430	RCV001426605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141832	108141832	11:g.108141832C>T	-
NM_000051.4(ATM):c.2883G>A (p.Leu961=)	472	ATM	Likely benign	-1	RCV002437829\|RCV003102828;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141835	108141835		-
NM_000051.4(ATM):c.2884C>T (p.Pro962Ser)	472	ATM	Uncertain significance	1377928885	RCV001338332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141836	108141836	108141836	-
NM_000051.4(ATM):c.2885C>T (p.Pro962Leu)	472	ATM	Uncertain significance	1591602470	RCV001016855\|RCV001873280;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141837	108141837	11:g.108141837C>T	-
NM_000051.4(ATM):c.2885C>G (p.Pro962Arg)	472	ATM	Uncertain significance	1591602470	RCV001303399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141837	108141837	108141837	-
NM_000051.4(ATM):c.2887A>G (p.Met963Val)	472	ATM	Conflicting interpretations of pathogenicity	374353016	RCV000132462\|RCV000168295\|RCV000236226\|RCV001201309\|RCV001355859\|RCV001798460\|RCV002225449;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C06	11	108141839	108141839	11:g.108141839A>G	ClinGen:CA169888	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2889G>A (p.Met963Ile)	472	ATM	Uncertain significance	35098825	RCV000777894\|RCV001193004\|RCV001306201;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141841	108141841	NC_000011.9:g.108141841G>A	-
NM_000051.4(ATM):c.2890del (p.Glu964fs)	472	ATM	Pathogenic	-1	RCV003020262;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141841	108141841	NC_000011.9:g.108141842del	-
NM_000051.4(ATM):c.2893G>C (p.Asp965His)	472	ATM	Uncertain significance	1064793035	RCV000486691\|RCV001369089;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141845	108141845	11:g.108141845G>C	ClinGen:CA16619150	CN169374 not specified;
NM_000051.4(ATM):c.2894A>T (p.Asp965Val)	472	ATM	Uncertain significance	876658628	RCV000218289\|RCV000533215;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141846	108141846	11:g.108141846A>T	ClinGen:CA10579075	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2895T>C (p.Asp965=)	472	ATM	Likely benign	1424320755	RCV000571919\|RCV000940700;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141847	108141847	11:g.108141847T>C	ClinGen:CA476674188	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2896G>A (p.Val966Ile)	472	ATM	Uncertain significance	1060501598	RCV000470537\|RCV000573675;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141848	108141848	NC_000011.9:g.108141848G>A	ClinGen:CA16613113	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2896G>T (p.Val966Phe)	472	ATM	Uncertain significance	-1	RCV002672029;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141848	108141848	NC_000011.9:g.108141848G>T	-
NM_000051.4(ATM):c.2901T>G (p.Leu967=)	472	ATM	Likely benign	778731866	RCV001182722\|RCV001473663;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141853	108141853	NC_000011.9:g.108141853T>G	ClinGen:CA336373	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2902G>T (p.Glu968Ter)	472	ATM	Pathogenic	1555084723	RCV000568610\|RCV001388987;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141854	108141854	11:g.108141854G>T	ClinGen:CA382546939	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2907_2909del (p.Leu970del)	472	ATM	Uncertain significance	2135548669	RCV001864221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141857	108141859	108141856	-
NM_000051.4(ATM):c.2908C>T (p.Leu970=)	472	ATM	Conflicting interpretations of pathogenicity	1060504260	RCV000463142\|RCV000567194\|RCV001591120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108141860	108141860	NC_000011.9:g.108141860C>T	ClinGen:CA16613377	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2909T>C (p.Leu970Pro)	472	ATM	Uncertain significance	587782521	RCV000541244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141861	108141861	11:g.108141861T>C	ClinGen:CA382546973	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2912_2916del (p.Lys971fs)	472	ATM	Pathogenic	587781656	RCV000129795\|RCV002514722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141863	108141867	11:g.108141863_108141867del	ClinGen:CA165106	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2913A>G (p.Lys971=)	472	ATM	Conflicting interpretations of pathogenicity	1057522291	RCV000428108\|RCV000465455\|RCV000775896;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141865	108141865	11:g.108141865A>G	ClinGen:CA16605780	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2914C>T (p.Pro972Ser)	472	ATM	Uncertain significance	2135548838	RCV001965020;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141866	108141866	108141866	-
NM_000051.4(ATM):c.2915C>T (p.Pro972Leu)	472	ATM	Uncertain significance	750093937	RCV000464154\|RCV000581255\|RCV001764397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108141867	108141867	NC_000011.9:g.108141867C>T	ClinGen:CA6265136	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2916A>T (p.Pro972=)	472	ATM	Likely benign	2081553201	RCV002170412;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141868	108141868	108141868	-
NM_000051.4(ATM):c.2917C>T (p.Leu973=)	472	ATM	Likely benign	535646511	RCV000572717\|RCV000841452\|RCV001415968;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141869	108141869	NC_000011.9:g.108141869C>T	ClinGen:CA476674222	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2917del (p.Leu973fs)	472	ATM	Pathogenic	-1	RCV002797063;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141869	108141869	NC_000011.9:g.108141869del	-
NM_000051.4(ATM):c.2918T>C (p.Leu973Pro)	472	ATM	Uncertain significance	1555084757	RCV000575570\|RCV000628041\|RCV003148791;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108141870	108141870	NC_000011.9:g.108141870T>C	ClinGen:CA382547002	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2919A>G (p.Leu973=)	472	ATM	Conflicting interpretations of pathogenicity	587779829	RCV000115166\|RCV000211990\|RCV000463962\|RCV001355592;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108141871	108141871	NC_000011.9:g.108141871A>G	ClinGen:CA286785	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921C>G (p.Ser974Cys)	472	ATM	Uncertain significance	538105098	RCV000167002\|RCV000595072\|RCV000628162\|RCV000763694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108141873	108141873	11:g.108141873C>G	ClinGen:CA197242	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921C>T (p.Ser974Phe)	472	ATM	Uncertain significance	538105098	RCV000165935\|RCV000460970\|RCV000478958\|RCV003468763;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141873	108141873	11:g.108141873C>T	ClinGen:CA194569	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921C>A (p.Ser974Tyr)	472	ATM	Uncertain significance	538105098	RCV000688497;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141873	108141873	11:g.108141873C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921+1G>A	472	ATM	Pathogenic/Likely pathogenic	587781558	RCV000129576\|RCV000169059\|RCV000215085\|RCV000507017\|RCV000762820\|RCV003128149\|RCV003467112;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108141874	108141874	NC_000011.9:g.108141874G>A	ClinGen:CA164701	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921+1G>T	472	ATM	Pathogenic/Likely pathogenic	587781558	RCV000130866\|RCV000233536\|RCV001571421\|RCV003330505\|RCV003462003;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141874	108141874	11:g.108141874G>T	ClinGen:CA167275	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921+1G>C	472	ATM	Pathogenic/Likely pathogenic	587781558	RCV000167947\|RCV000236109\|RCV000217319\|RCV003468819;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141874	108141874	NC_000011.9:g.108141874G>C	ClinGen:CA334038	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921+2dup	472	ATM	Conflicting interpretations of pathogenicity	1565424654	RCV000780924\|RCV003472315;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141874	108141875	NC_000011.9:g.108141875dup	-
NM_000051.4(ATM):c.2921+2T>G	472	ATM	Pathogenic	2135549026	RCV001953540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141875	108141875	108141875	-
NM_000051.4(ATM):c.2921+3A>C	472	ATM	Uncertain significance	2135549049	RCV001901727;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141876	108141876	108141876	-
NM_000051.4(ATM):c.2921+4A>C	472	ATM	Uncertain significance	1565424660	RCV000709175;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141877	108141877	NC_000011.9:g.108141877A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921+10T>G	472	ATM	Likely benign	1060504278	RCV001460375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141883	108141883	NC_000011.9:g.108141883T>G	ClinGen:CA16613378	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2921+11A>G	472	ATM	Likely benign	1565424678	RCV000773398\|RCV002536650;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141884	108141884	NC_000011.9:g.108141884A>G	-
NM_000051.4(ATM):c.2921+15C>A	472	ATM	Likely benign	1057521619	RCV000425978\|RCV001184471\|RCV002062610;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141888	108141888	11:g.108141888C>A	ClinGen:CA16606802	CN169374 not specified;
NM_000051.4(ATM):c.2921+15C>T	472	ATM	Likely benign	1057521619	RCV002189467;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141888	108141888	108141888	-
NM_000051.4(ATM):c.2921+16C>A	472	ATM	Likely benign	558376224	RCV000421514\|RCV000771184\|RCV002062412;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141889	108141889	11:g.108141889C>A	ClinGen:CA6265138	CN169374 not specified;
NM_000051.4(ATM):c.2921+16C>T	472	ATM	Likely benign	558376224	RCV002106280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141889	108141889	108141889	-
NM_000051.4(ATM):c.2921+24_2921+28del	472	ATM	Likely benign	780315379	RCV000582249\|RCV002060589;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141890	108141894	11:g.108141890_108141894del	ClinGen:CA6265139	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2921+19dup	472	ATM	Benign/Likely benign	56112367	RCV000159611\|RCV000679108\|RCV000988668\|RCV001729418\|RCV002225459\|RCV003149968;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN221562	11	108141891	108141892	11:g.108141891_108141892insA	ClinGen:CA297997	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2921+18T>C	472	ATM	Likely benign	1565424709	RCV000777351\|RCV003117567;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141891	108141891	NC_000011.9:g.108141891T>C	-
NM_000051.4(ATM):c.2921+19_2921+20del	472	ATM	Likely benign	2135549382	RCV002131317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141891	108141892	108141890	-
NM_000051.4(ATM):c.2921+20T>C	472	ATM	Likely benign	2081555059	RCV002217141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141893	108141893	108141893	-
NM_000051.4(ATM):c.2922-50_2940del	472	ATM	Pathogenic/Likely pathogenic	1555084832	RCV000458119\|RCV001176507\|RCV001543569\|RCV003463885;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141926	108141994	NC_000011.9:g.108141928_108141996del	ClinGen:CA16613114	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2922-50_2938del	472	ATM	Pathogenic	1555084836	RCV000553851;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141927	108141993	11:g.108141927_108141993del	ClinGen:CA658656157	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2922-8del	472	ATM	Benign/Likely benign	373881770	RCV000584007\|RCV000988669\|RCV001545203\|RCV001692211\|RCV003150283;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MedGen:CN221562	11	108141956	108141956	11:g.108141956_108141956del	ClinGen:CA6265148	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2922-20T>G	472	ATM	Likely benign	768172184	RCV002133057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141958	108141958	108141958	-
NM_000051.4(ATM):c.2922-14T>C	472	ATM	Likely benign	761100734	RCV000425419\|RCV001189685\|RCV002525399;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141964	108141964	11:g.108141964T>C	ClinGen:CA6265156	CN169374 not specified;
NM_000051.4(ATM):c.2922-10T>G	472	ATM	Uncertain significance	2081563514	RCV001296793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141968	108141968	108141968	-
NM_000051.4(ATM):c.2922-10T>C	472	ATM	Likely benign	2081563514	RCV001396682;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141968	108141968	108141968	-
NM_000051.4(ATM):c.2922-9T>C	472	ATM	Likely benign	2135551080	RCV002157317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141969	108141969	108141969	-
NM_000051.4(ATM):c.2922-8T>A	472	ATM	Conflicting interpretations of pathogenicity	545892367	RCV000502033\|RCV000727114\|RCV000988670\|RCV001190704;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141970	108141970	11:g.108141970T>A	ClinGen:CA645372903	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2922-7dup	472	ATM	Likely benign	932219783	RCV000530009;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141970	108141971	11:g.108141970_108141971insA	ClinGen:CA228409578	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2922-8T>C	472	ATM	Likely benign	545892367	RCV000582985\|RCV001435174;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141970	108141970	11:g.108141970T>C	ClinGen:CA6265157	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2922-7A>T	472	ATM	Likely benign	1292971489	RCV001393529;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141971	108141971	108141971	-
NM_000051.4(ATM):c.2922-5C>T	472	ATM	Conflicting interpretations of pathogenicity	1452462211	RCV000562081\|RCV001499849;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141973	108141973	NC_000011.9:g.108141973C>T	ClinGen:CA658656159	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2922-4A>G	472	ATM	Conflicting interpretations of pathogenicity	1555084924	RCV000570633\|RCV001461397;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141974	108141974	11:g.108141974A>G	ClinGen:CA658656160	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2922-3C>T	472	ATM	Uncertain significance	750087017	RCV000797600\|RCV003166157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141975	108141975	11:g.108141975C>T	-
NM_000051.4(ATM):c.2922-1G>T	472	ATM	Likely pathogenic	1555084931	RCV000581238\|RCV000667991\|RCV003451297;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141977	108141977	NC_000011.9:g.108141977G>T	ClinGen:CA382547064	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2922-1G>A	472	ATM	Pathogenic	1555084931	RCV001255860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141977	108141977	11:g.108141977G>A	-
NM_000051.4(ATM):c.2922C>T (p.Ser974=)	472	ATM	Conflicting interpretations of pathogenicity	758045139	RCV000216505\|RCV000435669\|RCV001038165;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141978	108141978	11:g.108141978C>T	ClinGen:CA10579076	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2924A>G (p.Asn975Ser)	472	ATM	Uncertain significance	730881354	RCV000159704\|RCV000469650\|RCV000569201\|RCV001844055\|RCV003467228;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141980	108141980	NC_000011.9:g.108141980A>G	ClinGen:CA298191	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2925T>C (p.Asn975=)	472	ATM	Likely benign	765848319	RCV000227449\|RCV000561101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141981	108141981	NC_000011.9:g.108141981T>C	ClinGen:CA6265160	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2930_2931del (p.Cys977fs)	472	ATM	Pathogenic/Likely pathogenic	1555084947	RCV000627908\|RCV002232774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108141981	108141982	NC_000011.9:g.108141982GT[2]	ClinGen:CA658797789	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2926G>T (p.Val976Leu)	472	ATM	Uncertain significance	1178628574	RCV000818082;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141982	108141982	11:g.108141982G>T	-
NM_000051.4(ATM):c.2926G>A (p.Val976Met)	472	ATM	Uncertain significance	1178628574	RCV001017517\|RCV001799023\|RCV001860868;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141982	108141982	11:g.108141982G>A	-
NM_000051.4(ATM):c.2927T>C (p.Val976Ala)	472	ATM	Conflicting interpretations of pathogenicity	146145357	RCV000166813\|RCV000230218\|RCV000588819\|RCV002271439\|RCV003462227;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141983	108141983	11:g.108141983T>C	ClinGen:CA196789	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2928G>A (p.Val976=)	472	ATM	Likely benign	1591603577	RCV001414067;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141984	108141984	11:g.108141984G>A	-
NM_000051.4(ATM):c.2929T>C (p.Cys977Arg)	472	ATM	Likely pathogenic	2135551484	RCV001647165\|RCV002438758;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141985	108141985	108141985	-
NM_000051.4(ATM):c.2930G>A (p.Cys977Tyr)	472	ATM	Conflicting interpretations of pathogenicity	876660628	RCV000218833\|RCV000232860\|RCV001582756;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108141986	108141986	11:g.108141986G>A	ClinGen:CA10579077	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2930G>T (p.Cys977Phe)	472	ATM	Uncertain significance	876660628	RCV001017528\|RCV001216482\|RCV003467638;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141986	108141986	11:g.108141986G>T	-
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro)	472	ATM	Conflicting interpretations of pathogenicity	139552233	RCV000115167\|RCV000119220\|RCV000211991\|RCV000584904\|RCV001356395\|RCV001798313;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562	11	108141988	108141988	NC_000011.9:g.108141988T>C	ClinGen:CA286788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2933C>A (p.Ser978Tyr)	472	ATM	Uncertain significance	-1	RCV002440092\|RCV003102895;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141989	108141989	108141989	-
NM_000051.4(ATM):c.2934T>G (p.Ser978=)	472	ATM	Likely benign	368678134	RCV000163824\|RCV000198588\|RCV000440987\|RCV001288007;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108141990	108141990	11:g.108141990T>G	ClinGen:CA189277	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2936T>C (p.Leu979Ser)	472	ATM	Uncertain significance	1565425094	RCV000776538\|RCV001856131;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141992	108141992	NC_000011.9:g.108141992T>C	-
NM_000051.4(ATM):c.2937G>T (p.Leu979Phe)	472	ATM	Uncertain significance	1166904824	RCV000563274\|RCV000791835\|RCV003465191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141993	108141993	11:g.108141993G>T	ClinGen:CA382547128	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2937G>A (p.Leu979=)	472	ATM	Likely benign	1166904824	RCV001475158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141993	108141993	11:g.108141993G>A	-
NM_000051.4(ATM):c.2938del (p.Tyr980fs)	472	ATM	Pathogenic	1565425118	RCV000772295\|RCV000701920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141994	108141994	NC_000011.9:g.108141994del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2940T>C (p.Tyr980=)	472	ATM	Likely benign	748119565	RCV000979870\|RCV002434353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108141996	108141996	11:g.108141996T>C	-
NM_000051.4(ATM):c.2940T>A (p.Tyr980Ter)	472	ATM	Pathogenic	748119565	RCV001204512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141996	108141996	11:g.108141996T>A	-
NM_000051.4(ATM):c.2941C>T (p.Arg981Cys)	472	ATM	Uncertain significance	587780619	RCV000122837\|RCV000216870\|RCV000763695\|RCV000994704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Me	11	108141997	108141997	11:g.108141997C>T	ClinGen:CA332327	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2941C>G (p.Arg981Gly)	472	ATM	Uncertain significance	587780619	RCV001228661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141997	108141997	11:g.108141997C>G	-
NM_000051.4(ATM):c.2942G>A (p.Arg981His)	472	ATM	Uncertain significance	755896387	RCV000221720\|RCV000469446\|RCV000587251\|RCV001175361\|RCV003469012;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108141998	108141998	11:g.108141998G>A	ClinGen:CA6265162	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2942G>C (p.Arg981Pro)	472	ATM	Uncertain significance	-1	RCV002440184\|RCV003102903;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141998	108141998	108141998	-
NM_000051.4(ATM):c.2943T>C (p.Arg981=)	472	ATM	Likely benign	-1	RCV002440197\|RCV003102905;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108141999	108141999		-
NM_000051.4(ATM):c.2944C>T (p.Arg982Cys)	472	ATM	Uncertain significance	587779830	RCV000115168\|RCV000465835\|RCV000563065\|RCV003460802;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142000	108142000	NC_000011.9:g.108142000C>T	ClinGen:CA286791	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2945G>A (p.Arg982His)	472	ATM	Conflicting interpretations of pathogenicity	749471737	RCV000164299\|RCV000235707\|RCV000476746\|RCV002247564\|RCV003325192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142001	108142001	11:g.108142001G>A	ClinGen:CA190572	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2945G>C (p.Arg982Pro)	472	ATM	Uncertain significance	749471737	RCV000808713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142001	108142001	11:g.108142001G>C	-
NM_000051.4(ATM):c.2945G>T (p.Arg982Leu)	472	ATM	Uncertain significance	749471737	RCV001368027\|RCV002438857;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142001	108142001	108142001	-
NM_000051.4(ATM):c.2946T>C (p.Arg982=)	472	ATM	Likely benign	-1	RCV002943186\|RCV003274095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142002	108142002		-
NM_000051.4(ATM):c.2947G>A (p.Asp983Asn)	472	ATM	Uncertain significance	1060501560	RCV000460085\|RCV000569619;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142003	108142003	NC_000011.9:g.108142003G>A	ClinGen:CA16613116	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2947G>T (p.Asp983Tyr)	472	ATM	Uncertain significance	1060501560	RCV001312574;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142003	108142003	108142003	-
NM_000051.4(ATM):c.2949C>T (p.Asp983=)	472	ATM	Likely benign	1555085022	RCV000567843\|RCV000628274;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142005	108142005	NC_000011.9:g.108142005C>T	ClinGen:CA476674274	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2950C>G (p.Gln984Glu)	472	ATM	Uncertain significance	2135552016	RCV002031142\|RCV002441230\|RCV003471282;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142006	108142006	108142006	-
NM_000051.4(ATM):c.2950C>T (p.Gln984Ter)	472	ATM	Pathogenic	-1	RCV002828805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142006	108142006	NC_000011.9:g.108142006C>T	-
NM_000051.4(ATM):c.2951A>G (p.Gln984Arg)	472	ATM	Uncertain significance	1239016428	RCV000809751;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142007	108142007	11:g.108142007A>G	-
NM_000051.4(ATM):c.2953_2954dup (p.Asp985fs)	472	ATM	Pathogenic	2135552095	RCV001972597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142007	108142008	108142007	-
NM_000051.4(ATM):c.2952A>G (p.Gln984=)	472	ATM	Conflicting interpretations of pathogenicity	1476499901	RCV001361279\|RCV002438835;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142008	108142008	108142008	-
NM_000051.4(ATM):c.2954A>T (p.Asp985Val)	472	ATM	Uncertain significance	864622159	RCV000205414\|RCV000486669\|RCV000565728;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142010	108142010	11:g.108142010A>T	ClinGen:CA349582	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2954A>G (p.Asp985Gly)	472	ATM	Uncertain significance	864622159	RCV000572167\|RCV000792597;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142010	108142010	NC_000011.9:g.108142010A>G	ClinGen:CA382547197	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2955T>C (p.Asp985=)	472	ATM	Likely benign	1555085034	RCV000558706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142011	108142011	11:g.108142011T>C	ClinGen:CA476674278	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2956del (p.Val986fs)	472	ATM	Pathogenic	2135552199	RCV001972689;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142012	108142012	108142011	-
NM_000051.4(ATM):c.2957T>C (p.Val986Ala)	472	ATM	Uncertain significance	373225328	RCV000562093\|RCV001062989;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142013	108142013	11:g.108142013T>C	ClinGen:CA6265164	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2958T>G (p.Val986=)	472	ATM	Likely benign	745971584	RCV000214494\|RCV000436399\|RCV001494253;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142014	108142014	NC_000011.9:g.108142014T>G	ClinGen:CA348753	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2959T>G (p.Cys987Gly)	472	ATM	Uncertain significance	1305059653	RCV000818004;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142015	108142015	11:g.108142015T>G	-
NM_000051.4(ATM):c.2960G>A (p.Cys987Tyr)	472	ATM	Uncertain significance	1555085052	RCV000627999\|RCV002279449;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108142016	108142016	11:g.108142016G>A	ClinGen:CA382547220	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2961T>G (p.Cys987Trp)	472	ATM	Uncertain significance	-1	RCV002711690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142017	108142017	NC_000011.9:g.108142017T>G	-
NM_000051.4(ATM):c.2962A>G (p.Lys988Glu)	472	ATM	Uncertain significance	772327699	RCV001192367\|RCV001360532;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142018	108142018	11:g.108142018A>G	-
NM_000051.4(ATM):c.2962A>T (p.Lys988Ter)	472	ATM	Pathogenic	772327699	RCV001385058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142018	108142018	108142018	-
NM_000051.4(ATM):c.2964_2965del (p.Lys988fs)	472	ATM	Pathogenic	-1	RCV002867749;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142018	108142019	NC_000011.9:g.108142020_108142021del	-
NM_000051.4(ATM):c.2966dup (p.Ile990fs)	472	ATM	Pathogenic/Likely pathogenic	1555085060	RCV000576470\|RCV002438514\|RCV003139878;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142021	108142022	11:g.108142021_108142022insC	ClinGen:CA658656165	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2965A>G (p.Thr989Ala)	472	ATM	Uncertain significance	1565425329	RCV000772773\|RCV001856026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142021	108142021	NC_000011.9:g.108142021A>G	-
NM_000051.4(ATM):c.2966C>G (p.Thr989Ser)	472	ATM	Uncertain significance	-1	RCV003030821;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142022	108142022	NC_000011.9:g.108142022C>G	-
NM_000051.4(ATM):c.2967T>C (p.Thr989=)	472	ATM	Benign/Likely benign	144145128	RCV000420259\|RCV000562520\|RCV000628300;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142023	108142023	11:g.108142023T>C	ClinGen:CA6265166	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2967T>G (p.Thr989=)	472	ATM	Likely benign	144145128	RCV001418885;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142023	108142023	11:g.108142023T>G	-
NM_000051.4(ATM):c.2968A>G (p.Ile990Val)	472	ATM	Uncertain significance	899241025	RCV001017698\|RCV001301989;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142024	108142024	11:g.108142024A>G	-
NM_000051.4(ATM):c.2972del (p.Ile990_Leu991insTer)	472	ATM	Pathogenic	2135552505	RCV001387655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142025	108142025	108142024	-
NM_000051.4(ATM):c.2970T>C (p.Ile990=)	472	ATM	Likely benign	2081569239	RCV001469408\|RCV001647295;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108142026	108142026	108142026	-
NM_000051.4(ATM):c.2972T>C (p.Leu991Ser)	472	ATM	Uncertain significance	1227701474	RCV000571715\|RCV001041167;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142028	108142028	11:g.108142028T>C	ClinGen:CA382547272	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2975A>G (p.Asn992Ser)	472	ATM	Uncertain significance	1060501589	RCV000467761\|RCV000775694;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142031	108142031	NC_000011.9:g.108142031A>G	ClinGen:CA16613391	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2976C>G (p.Asn992Lys)	472	ATM	Uncertain significance	1283172338	RCV000694362;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142032	108142032	11:g.108142032C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2976C>A (p.Asn992Lys)	472	ATM	Uncertain significance	1283172338	RCV001346652;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142032	108142032	108142032	-
NM_000051.4(ATM):c.2977C>G (p.His993Asp)	472	ATM	Uncertain significance	2081569641	RCV001316054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142033	108142033	108142033	-
NM_000051.4(ATM):c.2978A>G (p.His993Arg)	472	ATM	Uncertain significance	878853498	RCV000227768\|RCV000573991\|RCV001566623\|RCV003475053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142034	108142034	11:g.108142034A>G	ClinGen:CA10582807	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2978A>T (p.His993Leu)	472	ATM	Uncertain significance	878853498	RCV000530365;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142034	108142034	11:g.108142034A>T	ClinGen:CA382547304	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2982C>T (p.Val994=)	472	ATM	Likely benign	200541844	RCV000628221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142038	108142038	11:g.108142038C>T	ClinGen:CA228409748	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2983C>T (p.Leu995Phe)	472	ATM	Uncertain significance	587779831	RCV000115170\|RCV000628198\|RCV001017786\|RCV003467023;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142039	108142039	NC_000011.9:g.108142039C>T	ClinGen:CA286797	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2983C>G (p.Leu995Val)	472	ATM	Uncertain significance	587779831	RCV000777547\|RCV001873169\|RCV003321732\|RCV003442067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108142039	108142039	NC_000011.9:g.108142039C>G	-
NM_000051.4(ATM):c.2985_2988del (p.Leu995_His996insTer)	472	ATM	Pathogenic/Likely pathogenic	1060501600	RCV000472398\|RCV003476059;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142040	108142043	NC_000011.9:g.108142041_108142044del	ClinGen:CA16613118	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2985T>A (p.Leu995=)	472	ATM	Likely benign	1555085087	RCV000542969\|RCV001524421;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142041	108142041	11:g.108142041T>A	ClinGen:CA476674296	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2986C>T (p.His996Tyr)	472	ATM	Uncertain significance	2081570384	RCV001317447\|RCV003166828;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142042	108142042	108142042	-
NM_000051.4(ATM):c.2987A>G (p.His996Arg)	472	ATM	Uncertain significance	876660034	RCV000213877\|RCV000628088\|RCV001658038\|RCV002307456;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108142043	108142043	11:g.108142043A>G	ClinGen:CA10579078	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2987A>C (p.His996Pro)	472	ATM	Uncertain significance	876660034	RCV000706409;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142043	108142043	NC_000011.9:g.108142043A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2988T>G (p.His996Gln)	472	ATM	Uncertain significance	559676197	RCV000777895\|RCV001358263\|RCV001856151;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142044	108142044	NC_000011.9:g.108142044T>G	-
NM_000051.4(ATM):c.2988T>C (p.His996=)	472	ATM	Likely benign	559676197	RCV001178463\|RCV002555486;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142044	108142044	11:g.108142044T>C	-
NM_000051.4(ATM):c.2989G>A (p.Val997Ile)	472	ATM	Conflicting interpretations of pathogenicity	1487902875	RCV000701054\|RCV000776861;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142045	108142045	NC_000011.9:g.108142045G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2989G>C (p.Val997Leu)	472	ATM	Uncertain significance	1487902875	RCV001350436;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142045	108142045	108142045	-
NM_000051.4(ATM):c.2990del (p.Val997fs)	472	ATM	Pathogenic	2135552978	RCV001867691;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142046	108142046	108142045	-
NM_000051.4(ATM):c.2991A>G (p.Val997=)	472	ATM	Conflicting interpretations of pathogenicity	1203368496	RCV000565038\|RCV001796126\|RCV002527966;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142047	108142047	NC_000011.9:g.108142047A>G	ClinGen:CA476674303	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2992G>A (p.Val998Met)	472	ATM	Uncertain significance	199635238	RCV000803486\|RCV001017830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142048	108142048	11:g.108142048G>A	-
NM_000051.4(ATM):c.2993T>G (p.Val998Gly)	472	ATM	Uncertain significance	2135553024	RCV001995486\|RCV002441138;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142049	108142049	108142049	-
NM_000051.4(ATM):c.2994dup (p.Lys999fs)	472	ATM	Pathogenic	2135553051	RCV001942323;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142049	108142050	108142049	-
NM_000051.4(ATM):c.2999dup (p.Asn1000fs)	472	ATM	Pathogenic/Likely pathogenic	1057516250	RCV000410197\|RCV003470323;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142050	108142051	11:g.108142050_108142051insA	ClinGen:CA16041396	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2994G>A (p.Val998=)	472	ATM	Likely benign	1555085118	RCV000575130\|RCV000611500\|RCV000926860;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142050	108142050	NC_000011.9:g.108142050G>A	ClinGen:CA476674307	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.2999del (p.Asn1000fs)	472	ATM	Pathogenic	1057516250	RCV001216226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142051	108142051	11:g.108142051_108142051del	-
NM_000051.4(ATM):c.2998A>T (p.Asn1000Tyr)	472	ATM	Uncertain significance	2081571365	RCV001202369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142054	108142054	11:g.108142054A>T	-
NM_000051.4(ATM):c.2999A>T (p.Asn1000Ile)	472	ATM	Uncertain significance	1555085128	RCV000590548\|RCV001017869\|RCV002530883;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142055	108142055	NC_000011.9:g.108142055A>T	ClinGen:CA382547390	CN517202 not provided;
NM_000051.4(ATM):c.2999A>G (p.Asn1000Ser)	472	ATM	Uncertain significance	1555085128	RCV002019706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142055	108142055	108142055	-
NM_000051.4(ATM):c.3000C>G (p.Asn1000Lys)	472	ATM	Uncertain significance	2135553183	RCV001927386;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142056	108142056	108142056	-
NM_000051.4(ATM):c.3001C>G (p.Leu1001Val)	472	ATM	Uncertain significance	377244521	RCV000480722\|RCV001017992\|RCV001236851;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142057	108142057	11:g.108142057C>G	ClinGen:CA6265170	CN169374 not specified;
NM_000051.4(ATM):c.3003A>G (p.Leu1001=)	472	ATM	Likely benign	765969190	RCV000164098\|RCV000536252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142059	108142059	11:g.108142059A>G	ClinGen:CA190038	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3003A>C (p.Leu1001=)	472	ATM	Likely benign	765969190	RCV000222970\|RCV000560054;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142059	108142059	11:g.108142059A>C	ClinGen:CA10579079	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3004G>C (p.Gly1002Arg)	472	ATM	Uncertain significance	1565425547	RCV000697781\|RCV002440491;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142060	108142060	NC_000011.9:g.108142060G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3007C>G (p.Gln1003Glu)	472	ATM	Uncertain significance	1555085143	RCV000581835\|RCV001214388;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142063	108142063	11:g.108142063C>G	ClinGen:CA382547421	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3007C>T (p.Gln1003Ter)	472	ATM	Pathogenic	1555085143	RCV001390351;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142063	108142063	108142063	-
NM_000051.4(ATM):c.3009A>G (p.Gln1003=)	472	ATM	Likely benign	1555085154	RCV000570663\|RCV001442237;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142065	108142065	11:g.108142065A>G	ClinGen:CA476674385	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3011G>A (p.Ser1004Asn)	472	ATM	Uncertain significance	1060501696	RCV000465215\|RCV001018058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142067	108142067	NC_000011.9:g.108142067G>A	ClinGen:CA16613394	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3011G>C (p.Ser1004Thr)	472	ATM	Uncertain significance	1060501696	RCV000777396\|RCV001873168;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142067	108142067	NC_000011.9:g.108142067G>C	-
NM_000051.4(ATM):c.3012C>T (p.Ser1004=)	472	ATM	Likely benign	751260996	RCV000583296\|RCV000627980\|RCV000827015;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108142068	108142068	11:g.108142068C>T	ClinGen:CA6265171	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3014A>G (p.Asn1005Ser)	472	ATM	Conflicting interpretations of pathogenicity	146531614	RCV000115171\|RCV000194529\|RCV000515446\|RCV000588986\|RCV001079613\|RCV001354960\|RCV002291557;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C000	11	108142070	108142070	NC_000011.9:g.108142070A>G	ClinGen:CA208751	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3016A>G (p.Met1006Val)	472	ATM	Conflicting interpretations of pathogenicity	139893395	RCV000131127\|RCV000205686\|RCV000585220\|RCV001328457;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108142072	108142072	11:g.108142072A>G	ClinGen:CA167648	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3017T>C (p.Met1006Thr)	472	ATM	Uncertain significance	1421074475	RCV000566980\|RCV000812359\|RCV002298678;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108142073	108142073	NC_000011.9:g.108142073T>C	ClinGen:CA382547462	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3021C>G (p.Asp1007Glu)	472	ATM	Uncertain significance	1591604426	RCV001056623;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142077	108142077	11:g.108142077C>G	-
NM_000051.4(ATM):c.3023_3024del (p.Asp1007_Ser1008insTer)	472	ATM	Pathogenic	2135553733	RCV001940855;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142077	108142078	108142076	-
NM_000051.4(ATM):c.3022T>C (p.Ser1008Pro)	472	ATM	Uncertain significance	2135553747	RCV001997936\|RCV003237362;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142078	108142078	108142078	-
NM_000051.4(ATM):c.3024dup (p.Glu1009Ter)	472	ATM	Pathogenic/Likely pathogenic	1555085172	RCV000669937;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142079	108142080	11:g.108142079_108142080insT	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3024_3025insTT (p.Glu1009fs)	472	ATM	Pathogenic	1555085172	RCV001018125\|RCV001212233;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142079	108142080	11:g.108142079_108142080insTT	-
NM_000051.4(ATM):c.3023C>G (p.Ser1008Cys)	472	ATM	Uncertain significance	2135553767	RCV003101419\|RCV002259232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142079	108142079	108142079	-
NM_000051.4(ATM):c.3024T>G (p.Ser1008=)	472	ATM	Likely benign	1060504274	RCV000458793\|RCV001018129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142080	108142080	NC_000011.9:g.108142080T>G	ClinGen:CA16613030	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3024_3025del (p.Asn1010fs)	472	ATM	Pathogenic	2135553856	RCV001775271;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142080	108142081	108142079	-
NM_000051.4(ATM):c.3024_3031del (p.Glu1009fs)	472	ATM	Pathogenic	-1	RCV002882021;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142080	108142087	NC_000011.9:g.108142080_108142087del	-
NM_000051.4(ATM):c.3025G>C (p.Glu1009Gln)	472	ATM	Uncertain significance	1064794039	RCV000478303\|RCV000627870\|RCV002436533\|RCV003470545;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142081	108142081	11:g.108142081G>C	ClinGen:CA16619152	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3027G>A (p.Glu1009=)	472	ATM	Likely benign	1060504299	RCV000462745\|RCV000569456\|RCV001532942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108142083	108142083	NC_000011.9:g.108142083G>A	ClinGen:CA16613031	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3030C>T (p.Asn1010=)	472	ATM	Likely benign	876660913	RCV000213723\|RCV000465401;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142086	108142086	11:g.108142086C>T	ClinGen:CA10579080	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3031A>G (p.Thr1011Ala)	472	ATM	Uncertain significance	959314809	RCV000561255\|RCV001865737;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142087	108142087	11:g.108142087A>G	ClinGen:CA228409821	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3032C>G (p.Thr1011Arg)	472	ATM	Uncertain significance	1387785337	RCV001038606\|RCV003160243;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142088	108142088	11:g.108142088C>G	-
NM_000051.4(ATM):c.3032C>A (p.Thr1011Lys)	472	ATM	Uncertain significance	1387785337	RCV001758474\|RCV001868498;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142088	108142088	108142088	-
NM_000051.4(ATM):c.3032del (p.Thr1011fs)	472	ATM	Pathogenic	2135554073	RCV001999863;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142088	108142088	108142087	-
NM_000051.4(ATM):c.3034dup (p.Arg1012fs)	472	ATM	Pathogenic	2135554107	RCV001892468\|RCV002440969;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142088	108142089	108142088	-
NM_000051.4(ATM):c.3034A>C (p.Arg1012=)	472	ATM	Likely benign	752615128	RCV001399473;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142090	108142090	108142090	-
NM_000051.4(ATM):c.3035G>A (p.Arg1012Lys)	472	ATM	Uncertain significance	1565425752	RCV000689676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142091	108142091	NC_000011.9:g.108142091G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3036G>A (p.Arg1012=)	472	ATM	Likely benign	-1	RCV002962004;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142092	108142092		-
NM_000051.4(ATM):c.3037G>T (p.Asp1013Tyr)	472	ATM	Uncertain significance	2135554187	RCV001968663;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142093	108142093	108142093	-
NM_000051.4(ATM):c.3039T>C (p.Asp1013=)	472	ATM	Likely benign	1591604597	RCV000983169\|RCV001177465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142095	108142095	11:g.108142095T>C	-
NM_000051.4(ATM):c.3040G>A (p.Ala1014Thr)	472	ATM	Uncertain significance	587782163	RCV000130755\|RCV000198177\|RCV001818317\|RCV003398766\|RCV003467154;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142096	108142096	11:g.108142096G>A	ClinGen:CA167047	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3041C>A (p.Ala1014Asp)	472	ATM	Uncertain significance	-1	RCV002838055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142097	108142097	NC_000011.9:g.108142097C>A	-
NM_000051.4(ATM):c.3041C>T (p.Ala1014Val)	472	ATM	Uncertain significance	-1	RCV002837984;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142097	108142097	NC_000011.9:g.108142097C>T	-
NM_000051.4(ATM):c.3042T>C (p.Ala1014=)	472	ATM	Likely benign	1555085205	RCV000548893\|RCV002448584;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142098	108142098	11:g.108142098T>C	ClinGen:CA476674415	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3043C>T (p.Gln1015Ter)	472	ATM	Pathogenic/Likely pathogenic	1555085210	RCV000574063\|RCV001057983\|RCV003459341;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142099	108142099	NC_000011.9:g.108142099C>T	ClinGen:CA382547577	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3044A>G (p.Gln1015Arg)	472	ATM	Uncertain significance	587778070	RCV000120129\|RCV000815027;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142100	108142100	11:g.108142100A>G	ClinGen:CA157092	CN169374 not specified;
NM_000051.4(ATM):c.3044_3045del (p.Gln1015fs)	472	ATM	Pathogenic	1555085217	RCV000628029;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142100	108142101	11:g.108142100_108142101del	ClinGen:CA658797790	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3044A>C (p.Gln1015Pro)	472	ATM	Uncertain significance	587778070	RCV001930965;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142100	108142100	108142100	-
NM_000051.4(ATM):c.3045A>C (p.Gln1015His)	472	ATM	Uncertain significance	1064796404	RCV000482329\|RCV001237480\|RCV002446945;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142101	108142101	11:g.108142101A>C	ClinGen:CA16619153	CN169374 not specified;
NM_000051.4(ATM):c.3045A>G (p.Gln1015=)	472	ATM	Likely benign	1064796404	RCV001493794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142101	108142101	108142101	-
NM_000051.4(ATM):c.3047G>T (p.Gly1016Val)	472	ATM	Uncertain significance	1565425832	RCV000707554\|RCV002442543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142103	108142103	NC_000011.9:g.108142103G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3048A>G (p.Gly1016=)	472	ATM	Likely benign	786203820	RCV000167293\|RCV000469672;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142104	108142104	11:g.108142104A>G	ClinGen:CA197941	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3049C>T (p.Gln1017Ter)	472	ATM	Pathogenic/Likely pathogenic	730881388	RCV000159761\|RCV000211992\|RCV000457084\|RCV001258064\|RCV003467240;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3469522; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C034615	11	108142105	108142105	NC_000011.9:g.108142105C>T	ClinGen:CA298345	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3054del (p.Thr1020fs)	472	ATM	Pathogenic	2135554539	RCV001951591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142108	108142108	108142107	-
NM_000051.4(ATM):c.3055C>G (p.Leu1019Val)	472	ATM	Uncertain significance	863224560	RCV000200782\|RCV000484897\|RCV000565743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142111	108142111	NC_000011.9:g.108142111C>G	ClinGen:CA339549	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3059C>T (p.Thr1020Ile)	472	ATM	Uncertain significance	186626274	RCV000204390\|RCV000220730\|RCV000587502\|RCV001357524\|RCV002288828;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142115	108142115	NC_000011.9:g.108142115C>T	ClinGen:CA348623	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3059C>A (p.Thr1020Lys)	472	ATM	Uncertain significance	186626274	RCV000685567\|RCV001187304\|RCV001584552\|RCV003325212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142115	108142115	11:g.108142115C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3060A>G (p.Thr1020=)	472	ATM	Conflicting interpretations of pathogenicity	1591604737	RCV001018393\|RCV001860907;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142116	108142116	11:g.108142116A>G	-
NM_000051.4(ATM):c.3063A>G (p.Val1021=)	472	ATM	Conflicting interpretations of pathogenicity	1591604752	RCV001018400\|RCV001288008\|RCV002068963;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142119	108142119	11:g.108142119A>G	-
NM_000051.4(ATM):c.3064A>G (p.Ile1022Val)	472	ATM	Uncertain significance	786202470	RCV000165293\|RCV000467416;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142120	108142120	11:g.108142120A>G	ClinGen:CA192997	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3064A>T (p.Ile1022Phe)	472	ATM	Conflicting interpretations of pathogenicity	786202470	RCV000796057\|RCV001188744;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142120	108142120	11:g.108142120A>T	-
NM_000051.4(ATM):c.3067G>A (p.Gly1023Arg)	472	ATM	Uncertain significance	730882129	RCV000161935\|RCV002444667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142123	108142123	NC_000011.9:g.108142123G>A	ClinGen:CA333790	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3068del (p.Gly1023fs)	472	ATM	Likely pathogenic	1057516590	RCV000411095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142123	108142123	NC_000011.9:g.108142124del	ClinGen:CA16041397	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3069A>G (p.Gly1023=)	472	ATM	Likely benign	778984289	RCV000565799\|RCV001415486;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142125	108142125	11:g.108142125A>G	ClinGen:CA6265175	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3070G>A (p.Ala1024Thr)	472	ATM	Uncertain significance	1397754737	RCV000628127;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142126	108142126	11:g.108142126G>A	ClinGen:CA382547680	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3070G>C (p.Ala1024Pro)	472	ATM	Uncertain significance	1397754737	RCV000816483\|RCV001018446;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142126	108142126	11:g.108142126G>C	-
NM_000051.4(ATM):c.3070G>T (p.Ala1024Ser)	472	ATM	Uncertain significance	-1	RCV003036211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142126	108142126	NC_000011.9:g.108142126G>T	-
NM_000051.4(ATM):c.3071C>T (p.Ala1024Val)	472	ATM	Uncertain significance	746133264	RCV000574934\|RCV000702349\|RCV002473066\|RCV003465257;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142127	108142127	NC_000011.9:g.108142127C>T	ClinGen:CA6265176	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3072A>G (p.Ala1024=)	472	ATM	Likely benign	772274328	RCV001018465\|RCV001394632;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142128	108142128	11:g.108142128A>G	-
NM_000051.4(ATM):c.3076del (p.Trp1026fs)	472	ATM	Pathogenic	2135554957	RCV001381335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142129	108142129	108142128	-
NM_000051.4(ATM):c.3073T>C (p.Phe1025Leu)	472	ATM	Uncertain significance	2135554935	RCV001983572;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142129	108142129	108142129	-
NM_000051.4(ATM):c.3074T>G (p.Phe1025Cys)	472	ATM	Uncertain significance	1555085266	RCV000556873\|RCV002319522;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142130	108142130	11:g.108142130T>G	ClinGen:CA382547706	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3075T>G (p.Phe1025Leu)	472	ATM	Uncertain significance	1591604883	RCV000792658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142131	108142131	11:g.108142131T>G	-
NM_000051.4(ATM):c.3076T>C (p.Trp1026Arg)	472	ATM	Uncertain significance	2135555027	RCV001371123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142132	108142132	108142132	-
NM_000051.4(ATM):c.3077G>A (p.Trp1026Ter)	472	ATM	Pathogenic	587782103	RCV000130616\|RCV000798032\|RCV003467149;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142133	108142133	11:g.108142133G>A	ClinGen:CA166759	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3077G>C (p.Trp1026Ser)	472	ATM	Uncertain significance	587782103	RCV002035532;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142133	108142133	108142133	-
NM_000051.4(ATM):c.3077+1G>A	472	ATM	Likely pathogenic	192810283	RCV000206879\|RCV001018496\|RCV001531757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108142134	108142134	NC_000011.9:g.108142134G>A	ClinGen:CA350862	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3077+1G>T	472	ATM	Pathogenic/Likely pathogenic	192810283	RCV001205809\|RCV002319674\|RCV003163562\|RCV003469332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:0016419,MedGen:C03	11	108142134	108142134	11:g.108142134G>T	-
NM_000051.4(ATM):c.3077+3A>G	472	ATM	Uncertain significance	-1	RCV002886018;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142136	108142136	NC_000011.9:g.108142136A>G	-
NM_000051.4(ATM):c.3077+4G>A	472	ATM	Conflicting interpretations of pathogenicity	201222237	RCV000213394\|RCV000430951\|RCV000988671\|RCV001355758;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108142137	108142137	11:g.108142137G>A	ClinGen:CA6265179	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3077+4G>C	472	ATM	Uncertain significance	201222237	RCV001041616;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142137	108142137	11:g.108142137G>C	-
NM_000051.4(ATM):c.3077+4G>T	472	ATM	Uncertain significance	201222237	RCV001108885\|RCV002319659;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142137	108142137	11:g.108142137G>T	-
NM_000051.4(ATM):c.3077+5G>A	472	ATM	Uncertain significance	777003996	RCV000480882\|RCV000583449\|RCV000804209\|RCV003470540;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108142138	108142138	11:g.108142138G>A	ClinGen:CA6265180	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3077+6T>A	472	ATM	Uncertain significance	1565426002	RCV000707303;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142139	108142139	11:g.108142139T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3077+7A>C	472	ATM	Likely benign	2081577708	RCV001429354;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142140	108142140	108142140	-
NM_000051.4(ATM):c.3077+7A>G	472	ATM	Likely benign	2081577708	RCV002084688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142140	108142140	108142140	-
NM_000051.4(ATM):c.3077+8C>G	472	ATM	Benign/Likely benign	752601608	RCV000537578\|RCV000581306\|RCV001540506;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108142141	108142141	11:g.108142141C>G	ClinGen:CA601698293	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3077+8C>A	472	ATM	Uncertain significance	752601608	RCV000814439;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142141	108142141	11:g.108142141C>A	-
NM_000051.4(ATM):c.3077+8C>T	472	ATM	Likely benign	752601608	RCV001180479\|RCV001397135;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142141	108142141	11:g.108142141C>T	-
NM_000051.4(ATM):c.3077+9del	472	ATM	Uncertain significance	2081578007	RCV002009650\|RCV003365652;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108142142	108142142	108142141	-
NM_000051.4(ATM):c.3077+9A>T	472	ATM	Likely benign	-1	RCV002742010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142142	108142142	NC_000011.9:g.108142142A>T	-
NM_000051.4(ATM):c.3077+9A>G	472	ATM	Uncertain significance	-1	RCV002775868;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142142	108142142	NC_000011.9:g.108142142A>G	-
NM_000051.4(ATM):c.3077+13dup	472	ATM	Likely benign	1555085272	RCV000584720\|RCV001853897;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142145	108142146	NC_000011.9:g.108142146dup	ClinGen:CA658683766	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3077+12C>G	472	ATM	Likely benign	2081578131	RCV002100930;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142145	108142145	108142145	-
NM_000051.4(ATM):c.3077+14A>G	472	ATM	Likely benign	977758069	RCV001185108\|RCV002068401;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142147	108142147	11:g.108142147A>G	-
NM_000051.4(ATM):c.3077+14A>T	472	ATM	Likely benign	-1	RCV002903753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142147	108142147	NC_000011.9:g.108142147A>T	-
NM_000051.4(ATM):c.3077+15T>C	472	ATM	Likely benign	1555085277	RCV000583575\|RCV000616028\|RCV001357151\|RCV002060591;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142148	108142148	11:g.108142148T>C	ClinGen:CA658683768	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3077+21_3077+23del	472	ATM	Likely benign	1243820894	RCV000582440\|RCV002529183;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108142152	108142154	NC_000011.9:g.108142154_108142156del	ClinGen:CA601698295	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3078-77C>T	472	ATM	Benign	664677	RCV000507650\|RCV001702791\|RCV001712465\|RCV002225638;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108143182	108143182	11:g.108143182C>T	ClinGen:CA15687565	CN169374 not specified;
NM_000051.4(ATM):c.3078-17A>G	472	ATM	Conflicting interpretations of pathogenicity	2081636353	RCV001870337\|RCV002319731;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143242	108143242	108143242	-
NM_000051.4(ATM):c.3078-14T>C	472	ATM	Likely benign	-1	RCV003067048;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143245	108143245	NC_000011.9:g.108143245T>C	-
NM_000051.4(ATM):c.3078-12A>T	472	ATM	Likely benign	1555085749	RCV000583432\|RCV001505745\|RCV001712590\|RCV003316755;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143247	108143247	NC_000011.9:g.108143247A>T	ClinGen:CA658683769	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3078-11C>T	472	ATM	Likely benign	756972430	RCV000582756\|RCV002060592;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143248	108143248	11:g.108143248C>T	ClinGen:CA6265191	C0027672 Hereditary cancer-predisposing syndrome;
NC_000011.10:g.(?_108272522)_(108282889_?)dup	472	ATM	Uncertain significance	-1	RCV001032322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143249	108153616	-1	-
NM_000051.4(ATM):c.3078-10T>G	472	ATM	Uncertain significance	2135564722	RCV001981199;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143249	108143249	108143249	-
NM_000051.4(ATM):c.3078-9T>G	472	ATM	Uncertain significance	2081637337	RCV001238081;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143250	108143250	11:g.108143250T>G	-
NM_000051.4(ATM):c.3078-8G>C	472	ATM	Likely benign	-1	RCV003041698;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143251	108143251	NC_000011.9:g.108143251G>C	-
NM_000051.4(ATM):c.3078-7A>T	472	ATM	Likely benign	-1	RCV002861535;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143252	108143252	NC_000011.9:g.108143252A>T	-
NC_000011.9:g.(?_108143253)_(108153612_?)dup	472	ATM	Uncertain significance	-1	RCV000628325;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143253	108153612		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3078-5T>G	472	ATM	Uncertain significance	1565427457	RCV000688011;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143254	108143254	NC_000011.9:g.108143254T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3078-5T>C	472	ATM	Conflicting interpretations of pathogenicity	1565427457	RCV001043104\|RCV002319651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143254	108143254	11:g.108143254T>C	-
NM_000051.4(ATM):c.3078-4T>G	472	ATM	Likely benign	1591608166	RCV001394039;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143255	108143255	11:g.108143255T>G	-
NM_000051.4(ATM):c.3078-4T>A	472	ATM	Likely benign	-1	RCV003026338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143255	108143255	NC_000011.9:g.108143255T>A	-
NM_000051.4(ATM):c.3078-2A>C	472	ATM	Pathogenic	2135564916	RCV001888677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143257	108143257	108143257	-
NM_000051.4(ATM):c.3078-2A>G	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002319838\|RCV003099174;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143257	108143257	108143257	-
NM_000051.4(ATM):c.3078-1G>A	472	ATM	Pathogenic/Likely pathogenic	750663117	RCV000219914\|RCV000410565\|RCV000482905\|RCV003462457;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143258	108143258	11:g.108143258G>A	ClinGen:CA6265193	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.108272532del	472	ATM	Pathogenic	2135564943	RCV001922575;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143258	108143258		-
NM_000051.4(ATM):c.3078G>T (p.Trp1026Cys)	472	ATM	Pathogenic/Likely pathogenic	876660869	RCV000219464\|RCV000704906\|RCV001268471\|RCV003469101;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143259	108143259	11:g.108143259G>T	ClinGen:CA10579081	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3078G>A (p.Trp1026Ter)	472	ATM	Pathogenic	876660869	RCV000628080\|RCV003332214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108143259	108143259	11:g.108143259G>A	ClinGen:CA382514980	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3078G>C (p.Trp1026Cys)	472	ATM	Conflicting interpretations of pathogenicity	876660869	RCV001247764\|RCV002255639\|RCV003469477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143259	108143259	11:g.108143259G>C	-
NM_000051.4(ATM):c.3080A>G (p.His1027Arg)	472	ATM	Uncertain significance	786204217	RCV000168340\|RCV000216063\|RCV000763696\|RCV001194328\|RCV001354469\|RCV003468830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108143261	108143261	NC_000011.9:g.108143261A>G	ClinGen:CA334621	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3081T>A (p.His1027Gln)	472	ATM	Uncertain significance	864622587	RCV000205212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143262	108143262	NC_000011.9:g.108143262T>A	ClinGen:CA349398	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3081T>C (p.His1027=)	472	ATM	Likely benign	864622587	RCV000628234\|RCV001525059;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143262	108143262	11:g.108143262T>C	ClinGen:CA476744735	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3082C>G (p.Leu1028Val)	472	ATM	Uncertain significance	1263930458	RCV000684838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143263	108143263	NC_000011.9:g.108143263C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3085dup (p.Thr1029fs)	472	ATM	Pathogenic	876658502	RCV000220687\|RCV000236766\|RCV000462008\|RCV003468997\|RCV003401137;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|	11	108143264	108143265	11:g.108143264_108143265insA	ClinGen:CA10579083	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3083T>G (p.Leu1028Arg)	472	ATM	Uncertain significance	1555085776	RCV000582736\|RCV000689583;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143264	108143264	11:g.108143264T>G	ClinGen:CA382515010	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3083T>C (p.Leu1028Pro)	472	ATM	Uncertain significance	1555085776	RCV001225367\|RCV001760219\|RCV002319679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143264	108143264	11:g.108143264T>C	-
NM_000051.4(ATM):c.3083T>A (p.Leu1028Gln)	472	ATM	Uncertain significance	1555085776	RCV002005319;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143264	108143264	108143264	-
NM_000051.4(ATM):c.3084A>C (p.Leu1028=)	472	ATM	Likely benign	1565427561	RCV000777379\|RCV001471241;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143265	108143265	NC_000011.9:g.108143265A>C	-
NM_000051.4(ATM):c.3084A>G (p.Leu1028=)	472	ATM	Likely benign	1565427561	RCV002200234\|RCV002319746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143265	108143265	108143265	-
NM_000051.4(ATM):c.3085A>T (p.Thr1029Ser)	472	ATM	Conflicting interpretations of pathogenicity	730881355	RCV000159705\|RCV000234598\|RCV001180649;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143266	108143266	NC_000011.9:g.108143266A>T	ClinGen:CA298194	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3086_3090del (p.Thr1029fs)	472	ATM	Pathogenic	2135565205	RCV001934772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143267	108143271	108143266	-
NM_000051.4(ATM):c.3087A>C (p.Thr1029=)	472	ATM	Likely benign	1555085787	RCV000525210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143268	108143268	11:g.108143268A>C	ClinGen:CA476744744	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3087A>G (p.Thr1029=)	472	ATM	Likely benign	1555085787	RCV002156357;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143268	108143268	108143268	-
NM_000051.4(ATM):c.3088A>G (p.Lys1030Glu)	472	ATM	Uncertain significance	863224561	RCV000197182\|RCV000777897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143269	108143269	NC_000011.9:g.108143269A>G	ClinGen:CA337015	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3089A>G (p.Lys1030Arg)	472	ATM	Uncertain significance	2081639453	RCV001206130;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143270	108143270	11:g.108143270A>G	-
NM_000051.4(ATM):c.3090G>A (p.Lys1030=)	472	ATM	Likely benign	1591608292	RCV001018558\|RCV001410987;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143271	108143271	11:g.108143271G>A	-
NM_000051.4(ATM):c.3091del (p.Glu1031fs)	472	ATM	Pathogenic	2135565314	RCV001893504;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143271	108143271	108143270	-
NM_000051.4(ATM):c.3092A>T (p.Glu1031Val)	472	ATM	Conflicting interpretations of pathogenicity	758708495	RCV000537780\|RCV000580540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143273	108143273	11:g.108143273A>T	ClinGen:CA382515059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3092A>G (p.Glu1031Gly)	472	ATM	Uncertain significance	758708495	RCV000562331\|RCV001364192\|RCV001755924;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143273	108143273	NC_000011.9:g.108143273A>G	ClinGen:CA6265194	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3093G>A (p.Glu1031=)	472	ATM	Likely benign	1555085799	RCV000568014\|RCV001492023;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143274	108143274	11:g.108143274G>A	ClinGen:CA476744749	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3095G>A (p.Arg1032Lys)	472	ATM	Uncertain significance	2081639925	RCV001296567\|RCV001760338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108143276	108143276	108143276	-
NM_000051.4(ATM):c.3096G>A (p.Arg1032=)	472	ATM	Likely benign	1555085805	RCV001459104\|RCV002325189;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143277	108143277	11:g.108143277G>A	ClinGen:CA476744751	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3105_3106dup (p.Phe1036fs)	472	ATM	Pathogenic	2081640268	RCV001041564;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143279	108143280	11:g.108143279_108143280insAT	-
NM_000051.4(ATM):c.3100_3114dup (p.Tyr1034_Val1038dup)	472	ATM	Uncertain significance	2135565534	RCV001974727;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143279	108143280	108143279	-
NM_000051.4(ATM):c.3105_3106del (p.Phe1036fs)	472	ATM	Pathogenic	2081640268	RCV001380869;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143280	108143281	108143279	-
NM_000051.4(ATM):c.3099A>G (p.Lys1033=)	472	ATM	Uncertain significance	1813895840	RCV001897549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143280	108143280	108143280	-
NM_000051.4(ATM):c.3100T>A (p.Tyr1034Asn)	472	ATM	Uncertain significance	975639638	RCV001063487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143281	108143281	11:g.108143281T>A	-
NM_000051.4(ATM):c.3100T>C (p.Tyr1034His)	472	ATM	Uncertain significance	975639638	RCV001305462;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143281	108143281	108143281	-
NM_000051.4(ATM):c.3101A>G (p.Tyr1034Cys)	472	ATM	Uncertain significance	-1	RCV002628964;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143282	108143282	NC_000011.9:g.108143282A>G	-
NM_000051.4(ATM):c.3102T>C (p.Tyr1034=)	472	ATM	Likely benign	780240314	RCV000222366\|RCV000467754\|RCV001722183;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143283	108143283	11:g.108143283T>C	ClinGen:CA6265195	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3102T>G (p.Tyr1034Ter)	472	ATM	Pathogenic/Likely pathogenic	780240314	RCV000672308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143283	108143283	11:g.108143283T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3105A>G (p.Ile1035Met)	472	ATM	Uncertain significance	1565427678	RCV000705408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143286	108143286	NC_000011.9:g.108143286A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3106T>C (p.Phe1036Leu)	472	ATM	Uncertain significance	747079458	RCV000459438\|RCV000566084\|RCV001358008\|RCV002481423\|RCV003470427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:	11	108143287	108143287	NC_000011.9:g.108143287T>C	ClinGen:CA6265196	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3108C>T (p.Phe1036=)	472	ATM	Likely benign	867514913	RCV000221542\|RCV000457421\|RCV001712098\|RCV003316201;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143289	108143289	11:g.108143289C>T	ClinGen:CA10579084	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3108C>A (p.Phe1036Leu)	472	ATM	Uncertain significance	-1	RCV002770569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143289	108143289	NC_000011.9:g.108143289C>A	-
NM_000051.4(ATM):c.3109T>C (p.Ser1037Pro)	472	ATM	Uncertain significance	2135565790	RCV002035034;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143290	108143290	108143290	-
NM_000051.4(ATM):c.3110C>A (p.Ser1037Tyr)	472	ATM	Uncertain significance	-1	RCV003034910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143291	108143291	NC_000011.9:g.108143291C>A	-
NM_000051.4(ATM):c.3111T>C (p.Ser1037=)	472	ATM	Likely benign	1591608393	RCV001495370\|RCV003279168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143292	108143292	11:g.108143292T>C	-
NM_000051.4(ATM):c.3112_3113del (p.Val1038fs)	472	ATM	Pathogenic	2135565843	RCV001942286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143292	108143293	108143291	-
NM_000051.4(ATM):c.3112G>C (p.Val1038Leu)	472	ATM	Uncertain significance	876659877	RCV000218951\|RCV000550424;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143293	108143293	11:g.108143293G>C	ClinGen:CA10579085	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3112G>A (p.Val1038Ile)	472	ATM	Uncertain significance	876659877	RCV000809519\|RCV002325576;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143293	108143293	11:g.108143293G>A	-
NM_000051.4(ATM):c.3114A>T (p.Val1038=)	472	ATM	Likely benign	374451781	RCV001492731\|RCV002320184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143295	108143295	11:g.108143295A>T	-
NM_000051.4(ATM):c.3115A>C (p.Arg1039=)	472	ATM	Likely benign	1060504309	RCV001445674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143296	108143296	NC_000011.9:g.108143296A>C	ClinGen:CA16613124	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3116G>T (p.Arg1039Ile)	472	ATM	Uncertain significance	-1	RCV002806853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143297	108143297	NC_000011.9:g.108143297G>T	-
NM_000051.4(ATM):c.3117A>G (p.Arg1039=)	472	ATM	Likely benign	55784207	RCV000573869\|RCV001484596;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143298	108143298	NC_000011.9:g.108143298A>G	ClinGen:CA16613318	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3118A>G (p.Met1040Val)	472	ATM	Benign	3092857	RCV000003166\|RCV000116423\|RCV000123734\|RCV000203947\|RCV000224788\|RCV001797989\|RCV002221465\|RCV002225257;	N	MONDO:MONDO:0015759,MedGen:CN228979, Orphanet:171915\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:	11	108143299	108143299	11:g.108143299A>G	ClinGen:CA151920,UniProtKB:Q13315#VAR_010817,OMIM:607585.0010	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3120G>C (p.Met1040Ile)	472	ATM	Uncertain significance	781519408	RCV000227092\|RCV002321848;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143301	108143301	NC_000011.9:g.108143301G>C	ClinGen:CA6265197	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3121G>A (p.Ala1041Thr)	472	ATM	Uncertain significance	748752687	RCV001018737\|RCV001860924\|RCV003321776;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108143302	108143302	11:g.108143302G>A	-
NM_000051.4(ATM):c.3121G>T (p.Ala1041Ser)	472	ATM	Uncertain significance	748752687	RCV001805237\|RCV001869531;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143302	108143302	108143302	-
NM_000051.4(ATM):c.3124C>G (p.Leu1042Val)	472	ATM	Uncertain significance	1177614796	RCV001946461;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143305	108143305	108143305	-
NM_000051.4(ATM):c.3126A>G (p.Leu1042=)	472	ATM	Likely benign	770038542	RCV000441675\|RCV000627955\|RCV002323586;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143307	108143307	11:g.108143307A>G	ClinGen:CA6265199	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3131del (p.Asn1044fs)	472	ATM	Pathogenic	-1	RCV002602307;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143310	108143310	NC_000011.9:g.108143312del	-
NM_000051.4(ATM):c.3131A>G (p.Asn1044Ser)	472	ATM	Uncertain significance	1565427876	RCV000706731\|RCV002325434;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143312	108143312	NC_000011.9:g.108143312A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3132T>C (p.Asn1044=)	472	ATM	Likely benign	1430714562	RCV001813131\|RCV002322177\|RCV002537955;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143313	108143313	108143313	-
NM_000051.4(ATM):c.3135C>T (p.Cys1045=)	472	ATM	Likely benign	773577455	RCV000163827\|RCV000467959;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143316	108143316	11:g.108143316C>T	ClinGen:CA189285	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3136C>T (p.Leu1046Phe)	472	ATM	Uncertain significance	1591608576	RCV001018780\|RCV001221826\|RCV001759701;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143317	108143317	11:g.108143317C>T	-
NM_000051.4(ATM):c.3137T>C (p.Leu1046Pro)	472	ATM	Likely pathogenic	568461905	RCV000166173\|RCV000667954\|RCV001795288\|RCV002221504;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143318	108143318	11:g.108143318T>C	ClinGen:CA195169,UniProtKB:Q13315#VAR_077237	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3138T>G (p.Leu1046=)	472	ATM	Likely benign	3092858	RCV000433216\|RCV000474481\|RCV000571807;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143319	108143319	11:g.108143319T>G	ClinGen:CA16606047	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3138T>C (p.Leu1046=)	472	ATM	Likely benign	3092858	RCV002219432\|RCV002258372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143319	108143319	108143319	-
NM_000051.4(ATM):c.3139A>G (p.Lys1047Glu)	472	ATM	Uncertain significance	587778071	RCV000120130\|RCV000166922\|RCV001835684;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143320	108143320	11:g.108143320A>G	ClinGen:CA157095	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3142del (p.Thr1048fs)	472	ATM	Pathogenic	2135566568	RCV001872918;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143320	108143320	108143319	-
NM_000051.4(ATM):c.3143C>T (p.Thr1048Ile)	472	ATM	Uncertain significance	1565427949	RCV000699142;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143324	108143324	11:g.108143324C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3145_3146del (p.Leu1049fs)	472	ATM	Pathogenic	1565427961	RCV001381578\|RCV002322363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143325	108143326	108143324	-
NM_000051.4(ATM):c.3145T>C (p.Leu1049=)	472	ATM	Likely benign	1591608635	RCV001456435;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143326	108143326	11:g.108143326T>C	-
NM_000051.4(ATM):c.3146T>C (p.Leu1049Ser)	472	ATM	Uncertain significance	1373504805	RCV000579502\|RCV000709176;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143327	108143327	NC_000011.9:g.108143327T>C	ClinGen:CA382515364	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3147G>T (p.Leu1049Phe)	472	ATM	Uncertain significance	1060501686	RCV000457620\|RCV000567038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143328	108143328	NC_000011.9:g.108143328G>T	ClinGen:CA16613319	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3149T>C (p.Leu1050Pro)	472	ATM	Uncertain significance	1555085890	RCV000628092;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143330	108143330	NC_000011.9:g.108143330T>C	ClinGen:CA382515383	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3149T>G (p.Leu1050Arg)	472	ATM	Uncertain significance	1555085890	RCV000774847\|RCV001054295\|RCV003472297;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143330	108143330	NC_000011.9:g.108143330T>G	-
NM_000051.4(ATM):c.3150T>C (p.Leu1050=)	472	ATM	Conflicting interpretations of pathogenicity	3092859	RCV000122839\|RCV000162639\|RCV000679110\|RCV001358528\|RCV001640111\|RCV001798391\|RCV003315806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108143331	108143331	NC_000011.9:g.108143331T>C	ClinGen:CA186610	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3151G>C (p.Glu1051Gln)	472	ATM	Uncertain significance	774935453	RCV000582617\|RCV000679111\|RCV001833606;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143332	108143332	11:g.108143332G>C	ClinGen:CA6265201	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3152A>G (p.Glu1051Gly)	472	ATM	Uncertain significance	876659217	RCV000218104\|RCV001204508;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143333	108143333	11:g.108143333A>G	ClinGen:CA10579086	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3152A>C (p.Glu1051Ala)	472	ATM	Uncertain significance	876659217	RCV000475663\|RCV001018835\|RCV001770326;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108143333	108143333	NC_000011.9:g.108143333A>C	ClinGen:CA16613396	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3153+1G>T	472	ATM	Likely pathogenic	2081646501	RCV001225643\|RCV003462769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143335	108143335	11:g.108143335G>T	-
NM_000051.4(ATM):c.3153+1G>A	472	ATM	Likely pathogenic	2081646501	RCV001564543\|RCV002570751\|RCV003470865;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143335	108143335	108143335	-
NM_000051.4(ATM):c.3153+2T>C	472	ATM	Likely pathogenic	2135566959	RCV002024142;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143336	108143336	108143336	-
NM_000051.4(ATM):c.3153+3G>T	472	ATM	Uncertain significance	1565428067	RCV000777377\|RCV001314730;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143337	108143337	NC_000011.9:g.108143337G>T	-
NM_000051.4(ATM):c.3153+3G>A	472	ATM	Uncertain significance	1565428067	RCV001321231;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143337	108143337	108143337	-
NM_000051.4(ATM):c.3153+4A>T	472	ATM	Uncertain significance	1060501620	RCV000472344;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143338	108143338	NC_000011.9:g.108143338A>T	ClinGen:CA16613321	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3153+10dup	472	ATM	Benign/Likely benign	1565428079	RCV000776849\|RCV001518687;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143339	108143340	NC_000011.9:g.108143344dup	-
NM_000051.4(ATM):c.3153+5G>A	472	ATM	Uncertain significance	1591608756	RCV001018837\|RCV002551812;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143339	108143339	11:g.108143339G>A	-
NM_000051.4(ATM):c.3153+6T>C	472	ATM	Uncertain significance	-1	RCV002948932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143340	108143340	NC_000011.9:g.108143340T>C	-
NM_000051.4(ATM):c.3153+7_3153+8insA	472	ATM	Likely benign	878853500	RCV000230993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143341	108143342	11:g.108143341_108143342insA	ClinGen:CA10582808	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3153+7T>C	472	ATM	Likely benign	2135567095	RCV002212323;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143341	108143341	108143341	-
NM_000051.4(ATM):c.3153+9T>C	472	ATM	Conflicting interpretations of pathogenicity	770464168	RCV000200790\|RCV000777898\|RCV003150084;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562	11	108143343	108143343	NC_000011.9:g.108143343T>C	ClinGen:CA339555	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3153+11G>A	472	ATM	Likely benign	760086749	RCV000777899\|RCV002536726;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143345	108143345	NC_000011.9:g.108143345G>A	-
NM_000051.4(ATM):c.3153+12C>T	472	ATM	Likely benign	2135567275	RCV002128642;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143346	108143346	108143346	-
NM_000051.4(ATM):c.3153+20dup	472	ATM	Benign/Likely benign	760492979	RCV000484439\|RCV000580922\|RCV002056751;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143347	108143348	NC_000011.9:g.108143354dup	ClinGen:CA6265203	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3153+18T>G	472	ATM	Likely benign	1555085921	RCV000611905\|RCV000776885\|RCV002063881;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143352	108143352	11:g.108143352T>G	ClinGen:CA476745038	CN169374 not specified;
NM_000051.4(ATM):c.3153+18T>C	472	ATM	Likely benign	1555085921	RCV002186092;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143352	108143352	108143352	-
NM_000051.4(ATM):c.3153+19T>G	472	ATM	Likely benign	1565428143	RCV000774838\|RCV002534158;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143353	108143353	NC_000011.9:g.108143353T>G	-
NM_000051.4(ATM):c.3153+20T>C	472	ATM	Benign/Likely benign	200786429	RCV000123735\|RCV000579562\|RCV002055421;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143354	108143354	NC_000011.9:g.108143354T>C	ClinGen:CA289552	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3153+20T>A	472	ATM	Likely benign	200786429	RCV000599962\|RCV000777900\|RCV002065257;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143354	108143354	11:g.108143354T>A	ClinGen:CA6265204	CN169374 not specified;
NM_000051.4(ATM):c.3154-20C>T	472	ATM	Likely benign	1057522141	RCV000444049\|RCV002525391;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143429	108143429	11:g.108143429C>T	ClinGen:CA16606164	CN169374 not specified;
NM_000051.4(ATM):c.3154-19C>T	472	ATM	Likely benign	-1	RCV002904266;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143430	108143430	NC_000011.9:g.108143430C>T	-
NM_000051.4(ATM):c.3154-16A>G	472	ATM	Likely benign	556888479	RCV002086725;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143433	108143433	108143433	-
NM_000051.4(ATM):c.3154-11T>C	472	ATM	Conflicting interpretations of pathogenicity	748543045	RCV001189686\|RCV001712878\|RCV002069081;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143438	108143438	11:g.108143438T>C	-
NM_000051.4(ATM):c.3154-10T>C	472	ATM	Likely benign	2135569357	RCV002192169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143439	108143439	108143439	-
NM_000051.4(ATM):c.3154-9T>C	472	ATM	Likely benign	2135569385	RCV002134955;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143440	108143440	108143440	-
NM_000051.4(ATM):c.3154-7C>T	472	ATM	Likely benign	756615573	RCV000421260\|RCV001466107;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143442	108143442	11:g.108143442C>T	ClinGen:CA16606052	CN169374 not specified;
NM_000051.4(ATM):c.3154-5C>T	472	ATM	Conflicting interpretations of pathogenicity	55719759	RCV000129749\|RCV000462650\|RCV000779795\|RCV001311785;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108143444	108143444	11:g.108143444C>T	ClinGen:CA165018	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3154-4G>A	472	ATM	Conflicting interpretations of pathogenicity	199543313	RCV000131267\|RCV000211993\|RCV001079697\|RCV001358310\|RCV002292436\|RCV003149907\|RCV003315904;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108143445	108143445	11:g.108143445G>A	ClinGen:CA294338	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3154-4G>T	472	ATM	Likely benign	199543313	RCV000221846\|RCV000539143\|RCV001705228;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143445	108143445	11:g.108143445G>T	ClinGen:CA6265216	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3154-2A>G	472	ATM	Pathogenic	730881357	RCV000159707\|RCV000206276\|RCV000211994\|RCV003128229\|RCV003467229;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108143447	108143447	NC_000011.9:g.108143447A>G	ClinGen:CA298200	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3154-2A>T	472	ATM	Pathogenic	730881357	RCV001950761;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143447	108143447	108143447	-
NM_000051.4(ATM):c.3154-1G>A	472	ATM	Likely pathogenic	1555085973	RCV000672474\|RCV001171403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143448	108143448	11:g.108143448G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3154-1_3154delinsTT	472	ATM	Likely pathogenic	2081657007	RCV001048650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143448	108143449	NC_000011.9:g.108143448_108143449delinsTT	-
NM_000051.4(ATM):c.3154G>C (p.Ala1052Pro)	472	ATM	Uncertain significance	1064793036	RCV001960923;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143449	108143449	108143449	-
NM_000051.4(ATM):c.3155C>T (p.Ala1052Val)	472	ATM	Uncertain significance	876660350	RCV000222043\|RCV000472434\|RCV003321553\|RCV003329263;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108143450	108143450	11:g.108143450C>T	ClinGen:CA10579087	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3155C>G (p.Ala1052Gly)	472	ATM	Uncertain significance	876660350	RCV001327639\|RCV002322258;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143450	108143450	108143450	-
NM_000051.4(ATM):c.3158A>T (p.Asp1053Val)	472	ATM	Uncertain significance	2081657910	RCV001063091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143453	108143453	11:g.108143453A>T	-
NM_000051.4(ATM):c.3158A>G (p.Asp1053Gly)	472	ATM	Uncertain significance	-1	RCV003032277;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143453	108143453	NC_000011.9:g.108143453A>G	-
NM_000051.4(ATM):c.3160C>A (p.Pro1054Thr)	472	ATM	Conflicting interpretations of pathogenicity	775095314	RCV002164677\|RCV002324523;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143455	108143455	108143455	-
NM_000051.4(ATM):c.3160C>T (p.Pro1054Ser)	472	ATM	Uncertain significance	-1	RCV003049522;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143455	108143455	NC_000011.9:g.108143455C>T	-
NM_000051.4(ATM):c.3161C>G (p.Pro1054Arg)	472	ATM	Benign/Likely benign	1800057	RCV000119124\|RCV000120131\|RCV000130988\|RCV001357969\|RCV001538534\|RCV002225346\|RCV003315702;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0002032,MedGen:C0699790\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108143456	108143456	11:g.108143456C>G	ClinGen:CA157098,UniProtKB:Q13315#VAR_010818	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3161C>A (p.Pro1054His)	472	ATM	Uncertain significance	1800057	RCV000479904\|RCV000698974\|RCV001018886\|RCV002481509;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108143456	108143456	11:g.108143456C>A	ClinGen:CA16619155	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3162T>G (p.Pro1054=)	472	ATM	Likely benign	2081658300	RCV001492830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143457	108143457	108143457	-
NM_000051.4(ATM):c.3165T>C (p.Tyr1055=)	472	ATM	Likely benign	768038217	RCV001187305\|RCV001406593;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143460	108143460	11:g.108143460T>C	-
NM_000051.4(ATM):c.3167C>A (p.Ser1056Ter)	472	ATM	Pathogenic	1565428419	RCV000687188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143462	108143462	NC_000011.9:g.108143462C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3171dup (p.Trp1058fs)	472	ATM	Pathogenic	2135570105	RCV001941888\|RCV002324402;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143462	108143463	108143462	-
NM_000051.4(ATM):c.3168A>G (p.Ser1056=)	472	ATM	Likely benign	-1	RCV002322587\|RCV003099254;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143463	108143463		-
NM_000051.4(ATM):c.3170A>C (p.Lys1057Thr)	472	ATM	Uncertain significance	-1	RCV002991574;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143465	108143465	NC_000011.9:g.108143465A>C	-
NM_000051.4(ATM):c.3171A>G (p.Lys1057=)	472	ATM	Likely benign	-1	RCV002322636\|RCV003099259;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143466	108143466		-
NM_000051.4(ATM):c.3173G>A (p.Trp1058Ter)	472	ATM	Pathogenic	-1	RCV002886138\|RCV003332389;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108143468	108143468	NC_000011.9:g.108143468G>A	-
NM_000051.4(ATM):c.3174G>C (p.Trp1058Cys)	472	ATM	Uncertain significance	1064796080	RCV000481827\|RCV000556279\|RCV000574851\|RCV002271512;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108143469	108143469	11:g.108143469G>C	ClinGen:CA16619156	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3174G>A (p.Trp1058Ter)	472	ATM	Pathogenic	1064796080	RCV001963092;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143469	108143469	108143469	-
NM_000051.4(ATM):c.3175G>A (p.Ala1059Thr)	472	ATM	Conflicting interpretations of pathogenicity	370282831	RCV000115172\|RCV000190775\|RCV000211995\|RCV000465718\|RCV000515253\|RCV000779787\|RCV001249849\|RCV003467024;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,M	11	108143470	108143470	NC_000011.9:g.108143470G>A	ClinGen:CA204829	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3175G>T (p.Ala1059Ser)	472	ATM	Uncertain significance	370282831	RCV001935462\|RCV003442951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143470	108143470	108143470	-
NM_000051.4(ATM):c.3176C>T (p.Ala1059Val)	472	ATM	Uncertain significance	761590782	RCV000217486\|RCV000704863\|RCV003237776\|RCV003469026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143471	108143471	11:g.108143471C>T	ClinGen:CA6265220	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3177C>G (p.Ala1059=)	472	ATM	Likely benign	1044910300	RCV001408870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143472	108143472	108143472	-
NM_000051.4(ATM):c.3178A>G (p.Ile1060Val)	472	ATM	Uncertain significance	2081660483	RCV001178953\|RCV001366252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143473	108143473	11:g.108143473A>G	-
NM_000051.4(ATM):c.3181C>G (p.Leu1061Val)	472	ATM	Uncertain significance	1565428509	RCV000772405\|RCV001037628;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143476	108143476	NC_000011.9:g.108143476C>G	-
NM_000051.4(ATM):c.3181del (p.Asn1062fs)	472	ATM	Pathogenic	2081660777	RCV001048644;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143476	108143476	11:g.108143476_108143476del	-
NM_000051.4(ATM):c.3181C>T (p.Leu1061Phe)	472	ATM	Uncertain significance	1565428509	RCV001371888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143476	108143476	108143476	-
NM_000051.4(ATM):c.3188_3192del (p.Val1063fs)	472	ATM	Pathogenic	2135570486	RCV002002512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143478	108143482	108143477	-
NM_000051.4(ATM):c.3186T>C (p.Asn1062=)	472	ATM	Likely benign	-1	RCV002846740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143481	108143481		-
NM_000051.4(ATM):c.3188dup (p.Met1064fs)	472	ATM	Pathogenic	2135570632	RCV001384673;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143482	108143483	108143482	-
NM_000051.4(ATM):c.3187G>A (p.Val1063Ile)	472	ATM	Uncertain significance	2135570586	RCV001989784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143482	108143482	108143482	-
NM_000051.4(ATM):c.3188T>C (p.Val1063Ala)	472	ATM	Uncertain significance	2081661362	RCV001350179;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143483	108143483	108143483	-
NM_000051.4(ATM):c.3189A>G (p.Val1063=)	472	ATM	Likely benign	76122065	RCV001481978;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143484	108143484	108143484	-
NM_000051.4(ATM):c.3190A>G (p.Met1064Val)	472	ATM	Conflicting interpretations of pathogenicity	79431304	RCV000214272\|RCV000671975\|RCV001546529\|RCV003468979\|RCV003153495;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:21	11	108143485	108143485	11:g.108143485A>G	ClinGen:CA6265222	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3191T>C (p.Met1064Thr)	472	ATM	Uncertain significance	1160497775	RCV000802600\|RCV001019084;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143486	108143486	11:g.108143486T>C	-
NM_000051.4(ATM):c.3192G>A (p.Met1064Ile)	472	ATM	Uncertain significance	1480804197	RCV001183406\|RCV002559836;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143487	108143487	11:g.108143487G>A	-
NM_000051.4(ATM):c.3194G>A (p.Gly1065Glu)	472	ATM	Uncertain significance	762810180	RCV000228830\|RCV000486042\|RCV001019088\|RCV003314582\|RCV003463628;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C5669880\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143489	108143489	NC_000011.9:g.108143489G>A	ClinGen:CA6265223	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3194G>T (p.Gly1065Val)	472	ATM	Uncertain significance	762810180	RCV000539327\|RCV001805141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143489	108143489	11:g.108143489G>T	ClinGen:CA382515714	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3198del (p.Asp1067fs)	472	ATM	Pathogenic	-1	RCV003114921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143490	108143490	NC_000011.9:g.108143493del	-
NM_000051.4(ATM):c.3196A>C (p.Lys1066Gln)	472	ATM	Uncertain significance	1555086041	RCV000561731\|RCV001054716\|RCV003222048;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143491	108143491	11:g.108143491A>C	ClinGen:CA382515718	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3197A>C (p.Lys1066Thr)	472	ATM	Uncertain significance	926564671	RCV000584495\|RCV000823180;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143492	108143492	11:g.108143492A>C	ClinGen:CA382515730	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3197A>G (p.Lys1066Arg)	472	ATM	Uncertain significance	926564671	RCV001176991\|RCV001220186;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143492	108143492	11:g.108143492A>G	-
NM_000051.4(ATM):c.3198A>C (p.Lys1066Asn)	472	ATM	Uncertain significance	1591609637	RCV000814502;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143493	108143493	11:g.108143493A>C	-
NM_000051.4(ATM):c.3198A>T (p.Lys1066Asn)	472	ATM	Uncertain significance	1591609637	RCV001349838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143493	108143493	108143493	-
NM_000051.4(ATM):c.3199G>T (p.Asp1067Tyr)	472	ATM	Uncertain significance	766342338	RCV001019127\|RCV001368787\|RCV001560144;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143494	108143494	11:g.108143494G>T	-
NM_000051.4(ATM):c.3200A>G (p.Asp1067Gly)	472	ATM	Uncertain significance	1591609662	RCV000815052;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143495	108143495	11:g.108143495A>G	-
NM_000051.4(ATM):c.3201C>A (p.Asp1067Glu)	472	ATM	Uncertain significance	1188674152	RCV001037760;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143496	108143496	11:g.108143496C>A	-
NM_000051.4(ATM):c.3201C>T (p.Asp1067=)	472	ATM	Likely benign	1188674152	RCV002180008;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143496	108143496	108143496	-
NM_000051.4(ATM):c.3202T>C (p.Phe1068Leu)	472	ATM	Uncertain significance	1255200743	RCV001019203\|RCV002551816;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143497	108143497	11:g.108143497T>C	-
NM_000051.4(ATM):c.3202T>A (p.Phe1068Ile)	472	ATM	Uncertain significance	1255200743	RCV001246896;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143497	108143497	11:g.108143497T>A	-
NM_000051.4(ATM):c.3203_3204del (p.Phe1068fs)	472	ATM	Pathogenic	2135571055	RCV001388510;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143497	108143498	108143496	-
NM_000051.4(ATM):c.3204T>C (p.Phe1068=)	472	ATM	Likely benign	1555086059	RCV000551950\|RCV000568433;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143499	108143499	11:g.108143499T>C	ClinGen:CA476745101	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3206del (p.Pro1069fs)	472	ATM	Pathogenic/Likely pathogenic	1060501677	RCV000463020\|RCV000562752\|RCV000657343\|RCV003470437;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143500	108143500	NC_000011.9:g.108143501del	ClinGen:CA16613398	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3205C>G (p.Pro1069Ala)	472	ATM	Uncertain significance	-1	RCV002685940;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143500	108143500	NC_000011.9:g.108143500C>G	-
NM_000051.4(ATM):c.3207T>C (p.Pro1069=)	472	ATM	Likely benign	878853502	RCV001444335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143502	108143502	NC_000011.9:g.108143502T>C	ClinGen:CA10582809	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3208G>A (p.Val1070Ile)	472	ATM	Uncertain significance	587780620	RCV000122840\|RCV002444581\|RCV003230410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108143503	108143503	NC_000011.9:g.108143503G>A	ClinGen:CA332330	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3209T>A (p.Val1070Glu)	472	ATM	Uncertain significance	2135571268	RCV001927367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143504	108143504	108143504	-
NM_000051.4(ATM):c.3210A>T (p.Val1070=)	472	ATM	Likely benign	1443665212	RCV002191316;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143505	108143505	108143505	-
NM_000051.4(ATM):c.3212A>G (p.Asn1071Ser)	472	ATM	Uncertain significance	755237639	RCV000274159\|RCV000575982\|RCV001551619\|RCV003321581;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108143507	108143507	NC_000011.9:g.108143507A>G	ClinGen:CA6265226	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3213T>C (p.Asn1071=)	472	ATM	Likely benign	786203221	RCV000166438\|RCV000938100;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143508	108143508	11:g.108143508T>C	ClinGen:CA195873	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3213del (p.Asn1071fs)	472	ATM	Pathogenic	2135571395	RCV002037665;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143508	108143508	108143507	-
NM_000051.4(ATM):c.3214G>T (p.Glu1072Ter)	472	ATM	Pathogenic	1060501687	RCV000459347\|RCV000478659\|RCV001019287\|RCV001258118\|RCV003463890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MedGen:C3469522\|MONDO:MONDO:0016419,MedGen:C034615	11	108143509	108143509	NC_000011.9:g.108143509G>T	ClinGen:CA16613125	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3216del (p.Val1073fs)	472	ATM	Pathogenic	2135571457	RCV001380158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143510	108143510	108143509	-
NM_000051.4(ATM):c.3216A>G (p.Glu1072=)	472	ATM	Likely benign	373699194	RCV001019290\|RCV001401413;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143511	108143511	NC_000011.9:g.108143511A>G	ClinGen:CA6265227	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3218dup (p.Phe1074fs)	472	ATM	Pathogenic/Likely pathogenic	876660741	RCV000213678\|RCV000464770\|RCV000487643;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143512	108143513	11:g.108143512_108143513insT	ClinGen:CA10579090	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3217G>A (p.Val1073Ile)	472	ATM	Uncertain significance	2135571488	RCV001892075;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143512	108143512	108143512	-
NM_000051.4(ATM):c.3219A>G (p.Val1073=)	472	ATM	Benign/Likely benign	752849892	RCV000163155\|RCV000199132\|RCV001311786\|RCV003230422;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108143514	108143514	11:g.108143514A>G	ClinGen:CA187579	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3224C>T (p.Thr1075Ile)	472	ATM	Uncertain significance	756568555	RCV001205759;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143519	108143519	11:g.108143519C>T	-
NM_000051.4(ATM):c.3225A>G (p.Thr1075=)	472	ATM	Likely benign	1555086107	RCV001189990\|RCV001468420;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143520	108143520	11:g.108143520A>G	ClinGen:CA476745121	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3231dup (p.Leu1078fs)	472	ATM	Pathogenic/Likely pathogenic	1057517097	RCV000409693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143523	108143524	11:g.108143523_108143524insT	ClinGen:CA16041398	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3228A>G (p.Gln1076=)	472	ATM	Likely benign	1057522201	RCV000435322\|RCV000571237\|RCV002525394;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143523	108143523	11:g.108143523A>G	ClinGen:CA16606170	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3229T>C (p.Phe1077Leu)	472	ATM	Uncertain significance	1555086111	RCV001019321\|RCV001860943;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143524	108143524	11:g.108143524T>C	-
NM_000051.4(ATM):c.3231T>A (p.Phe1077Leu)	472	ATM	Uncertain significance	971770683	RCV001019341\|RCV001042887\|RCV001264580\|RCV003467652;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143526	108143526	11:g.108143526T>A	-
NM_000051.4(ATM):c.3235_3236delinsTT (p.Ala1079Phe)	472	ATM	Uncertain significance	1555086120	RCV000545265\|RCV001019344;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143530	108143531	NC_000011.9:g.108143530_108143531delinsTT	ClinGen:CA658656179	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3235G>A (p.Ala1079Thr)	472	ATM	Uncertain significance	1565428827	RCV000774820\|RCV001042095;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143530	108143530	NC_000011.9:g.108143530G>A	-
NM_000051.4(ATM):c.3236C>G (p.Ala1079Gly)	472	ATM	Uncertain significance	778233602	RCV000476643\|RCV000572208\|RCV002480387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108143531	108143531	NC_000011.9:g.108143531C>G	ClinGen:CA6265229	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3237T>C (p.Ala1079=)	472	ATM	Likely benign	564238520	RCV000203951\|RCV000423300\|RCV000565445\|RCV001722119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108143532	108143532	NC_000011.9:g.108143532T>C	ClinGen:CA348230	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3237T>G (p.Ala1079=)	472	ATM	Likely benign	-1	RCV002913962;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143532	108143532		-
NM_000051.4(ATM):c.3238_3240del (p.Asp1080del)	472	ATM	Uncertain significance	2135572079	RCV001910210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143533	108143535	108143532	-
NM_000051.4(ATM):c.3238G>A (p.Asp1080Asn)	472	ATM	Uncertain significance	-1	RCV003000035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143533	108143533	NC_000011.9:g.108143533G>A	-
NM_000051.4(ATM):c.3239A>T (p.Asp1080Val)	472	ATM	Uncertain significance	757617016	RCV000628020;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143534	108143534	11:g.108143534A>T	ClinGen:CA6265230	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3239A>G (p.Asp1080Gly)	472	ATM	Uncertain significance	757617016	RCV001303589\|RCV002447300;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143534	108143534	108143534	-
NM_000051.4(ATM):c.3242_3245del (p.Asn1081fs)	472	ATM	Pathogenic/Likely pathogenic	1060501587	RCV000457961\|RCV001019392\|RCV003463881;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143535	108143538	NC_000011.9:g.108143537_108143540del	ClinGen:CA16613033	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3240C>A (p.Asp1080Glu)	472	ATM	Conflicting interpretations of pathogenicity	149911447	RCV000470743\|RCV000481741\|RCV000575167\|RCV001358722\|RCV003470439;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143535	108143535	NC_000011.9:g.108143535C>A	ClinGen:CA6265231	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3241A>G (p.Asn1081Asp)	472	ATM	Uncertain significance	2081666605	RCV001067166;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143536	108143536	11:g.108143536A>G	-
NM_000051.4(ATM):c.3241A>C (p.Asn1081His)	472	ATM	Uncertain significance	2081666605	RCV002039096;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143536	108143536	108143536	-
NM_000051.4(ATM):c.3242A>G (p.Asn1081Ser)	472	ATM	Conflicting interpretations of pathogenicity	368111672	RCV000130850\|RCV000475427\|RCV000515162\|RCV000588298\|RCV001354773\|RCV001731389\|RCV003149903;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108143537	108143537	11:g.108143537A>G	ClinGen:CA294246	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3243T>C (p.Asn1081=)	472	ATM	Likely benign	2135572258	RCV002142666;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143538	108143538	108143538	-
NM_000051.4(ATM):c.3244C>T (p.His1082Tyr)	472	ATM	Uncertain significance	1302626569	RCV000553297\|RCV000777232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143539	108143539	11:g.108143539C>T	ClinGen:CA382516014	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3244C>G (p.His1082Asp)	472	ATM	Uncertain significance	1302626569	RCV001071129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143539	108143539	11:g.108143539C>G	-
NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs)	472	ATM	Pathogenic	587776549	RCV000003172\|RCV000159638\|RCV000235102\|RCV001257489\|RCV001258119\|RCV001535763\|RCV003398427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108143540	108143542	NC_000011.9:g.108143540_108143542delinsTGAT	ClinGen:CA298025,OMIM:607585.0016	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3245A>G (p.His1082Arg)	472	ATM	Uncertain significance	1009749513	RCV000628136\|RCV002448918;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143540	108143540	NC_000011.9:g.108143540A>G	ClinGen:CA228357977	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3245A>C (p.His1082Pro)	472	ATM	Uncertain significance	-1	RCV003015038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143540	108143540	NC_000011.9:g.108143540A>C	-
NM_000051.4(ATM):c.3248A>G (p.His1083Arg)	472	ATM	Likely pathogenic	2081667850	RCV001312362\|RCV002322218;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143543	108143543	108143543	-
NM_000051.4(ATM):c.3248A>T (p.His1083Leu)	472	ATM	Uncertain significance	2081667850	RCV001975581;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143543	108143543	108143543	-
NM_000051.4(ATM):c.3249C>G (p.His1083Gln)	472	ATM	Uncertain significance	1246816005	RCV000695595\|RCV000777019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143544	108143544	NC_000011.9:g.108143544C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3252_3259del (p.Gln1084fs)	472	ATM	Pathogenic	876658402	RCV000215432\|RCV000485781\|RCV000692401;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143545	108143552	11:g.108143545_108143552del	ClinGen:CA10579091	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3250C>T (p.Gln1084Ter)	472	ATM	Pathogenic	1386063673	RCV000823859\|RCV003128162;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089	11	108143545	108143545	11:g.108143545C>T	-
NM_000051.4(ATM):c.3251A>G (p.Gln1084Arg)	472	ATM	Uncertain significance	2081668405	RCV001326234;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143546	108143546	108143546	-
NM_000051.4(ATM):c.3253G>A (p.Val1085Ile)	472	ATM	Uncertain significance	1555086177	RCV000529453\|RCV001180552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143548	108143548	11:g.108143548G>A	ClinGen:CA382516078	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3254T>C (p.Val1085Ala)	472	ATM	Uncertain significance	1284116426	RCV001040904\|RCV001186416\|RCV003467726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143549	108143549	11:g.108143549T>C	-
NM_000051.4(ATM):c.3256C>T (p.Arg1086Cys)	472	ATM	Conflicting interpretations of pathogenicity	201780199	RCV000220781\|RCV000462986\|RCV000757014\|RCV003330592\|RCV003469092;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143551	108143551	NC_000011.9:g.108143551C>T	ClinGen:CA6265233	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3257G>A (p.Arg1086His)	472	ATM	Uncertain significance	769857066	RCV000213977\|RCV000234243\|RCV000575194\|RCV002485436\|RCV003463608\|RCV003338472;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108143552	108143552	NC_000011.9:g.108143552G>A	ClinGen:CA6265234	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3257G>T (p.Arg1086Leu)	472	ATM	Uncertain significance	769857066	RCV000546613;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143552	108143552	11:g.108143552G>T	ClinGen:CA6265235	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3258C>T (p.Arg1086=)	472	ATM	Likely benign	773277362	RCV001187306\|RCV001206644;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143553	108143553	11:g.108143553C>T	-
NM_000051.4(ATM):c.3260T>C (p.Met1087Thr)	472	ATM	Uncertain significance	1460583900	RCV001067458\|RCV001525994\|RCV003469257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143555	108143555	11:g.108143555T>C	-
NM_000051.4(ATM):c.3261del (p.Met1087fs)	472	ATM	Pathogenic	1565429054	RCV000697195\|RCV000772607;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143556	108143556	11:g.108143556_108143556del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3273_3284+42dup	472	ATM	Uncertain significance	2081670756	RCV001050450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143559	108143560	11:g.108143559_108143560insGCTGCAGAGTCAATCAATAGGTAATGGGTCAAATATTCATGAAGTATTTGGAAT	-
NM_000051.4(ATM):c.3265G>T (p.Ala1089Ser)	472	ATM	Uncertain significance	730881358	RCV000159708\|RCV000215659\|RCV000228095\|RCV000779762\|RCV003462072;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143560	108143560	NC_000011.9:g.108143560G>T	ClinGen:CA298201	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3265G>C (p.Ala1089Pro)	472	ATM	Uncertain significance	730881358	RCV001363715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143560	108143560	108143560	-
NM_000051.4(ATM):c.3266C>T (p.Ala1089Val)	472	ATM	Uncertain significance	2135572925	RCV002048998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143561	108143561	108143561	-
NM_000051.4(ATM):c.3269C>T (p.Ala1090Val)	472	ATM	Uncertain significance	1591610246	RCV000809921\|RCV001019533;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143564	108143564	11:g.108143564C>T	-
NM_000051.4(ATM):c.3270A>G (p.Ala1090=)	472	ATM	Likely benign	997005308	RCV000566026\|RCV001486093\|RCV001591325;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143565	108143565	11:g.108143565A>G	ClinGen:CA228357997	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3272_3273del (p.Glu1091fs)	472	ATM	Pathogenic/Likely pathogenic	1565429102	RCV000709177\|RCV003460993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143565	108143566	11:g.108143565_108143566del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3271G>A (p.Glu1091Lys)	472	ATM	Uncertain significance	2135573046	RCV001921056;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143566	108143566	108143566	-
NM_000051.4(ATM):c.3273G>A (p.Glu1091=)	472	ATM	Likely benign	762860946	RCV000166590\|RCV000679112\|RCV001450067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143568	108143568	11:g.108143568G>A	ClinGen:CA196248	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3279_3282del (p.Asn1094fs)	472	ATM	Pathogenic/Likely pathogenic	879254281	RCV000236873\|RCV001389763\|RCV002321907;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143569	108143572	11:g.108143569_108143572del	ClinGen:CA10584335	CN517202 not provided;
NM_000051.4(ATM):c.3275C>A (p.Ser1092Ter)	472	ATM	Pathogenic	774197372	RCV000793285\|RCV001190560;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143570	108143570	11:g.108143570C>A	-
NM_000051.4(ATM):c.3275C>T (p.Ser1092Leu)	472	ATM	Uncertain significance	774197372	RCV000819473\|RCV003238244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143570	108143570	11:g.108143570C>T	-
NM_000051.4(ATM):c.3276A>G (p.Ser1092=)	472	ATM	Likely benign	2135573179	RCV002178560\|RCV002325692;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143571	108143571	108143571	-
NM_000051.4(ATM):c.3277A>G (p.Ile1093Val)	472	ATM	Uncertain significance	876659667	RCV000218384\|RCV000796622;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143572	108143572	11:g.108143572A>G	ClinGen:CA10579092	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3278T>G (p.Ile1093Ser)	472	ATM	Uncertain significance	2135573226	RCV001987256\|RCV002251597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108143573	108143573	108143573	-
NM_000051.4(ATM):c.3279_3280insT (p.Asn1094Ter)	472	ATM	Pathogenic	1131691155	RCV000494631\|RCV002524000;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143574	108143575	11:g.108143574_108143575insT	ClinGen:CA645369500	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3281del (p.Asn1094fs)	472	ATM	Pathogenic/Likely pathogenic	776516754	RCV000704976\|RCV002442531\|RCV003460982;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143575	108143575	11:g.108143575_108143575del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3280A>C (p.Asn1094His)	472	ATM	Uncertain significance	1591610333	RCV000792942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143575	108143575	11:g.108143575A>C	-
NM_000051.4(ATM):c.3280A>G (p.Asn1094Asp)	472	ATM	Uncertain significance	1591610333	RCV001019638\|RCV001860953;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143575	108143575	11:g.108143575A>G	-
NM_000051.4(ATM):c.3281A>G (p.Asn1094Ser)	472	ATM	Uncertain significance	199883473	RCV000131409\|RCV000206438\|RCV001550978\|RCV003467173;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143576	108143576	11:g.108143576A>G	ClinGen:CA168115	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3283A>C (p.Arg1095=)	472	ATM	Conflicting interpretations of pathogenicity	876660302	RCV000213488\|RCV000237018\|RCV000822256;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143578	108143578	11:g.108143578A>C	ClinGen:CA10579093	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3284G>A (p.Arg1095Lys)	472	ATM	Uncertain significance	587781815	RCV000130088\|RCV001037119\|RCV002221496;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143579	108143579	11:g.108143579G>A	ClinGen:CA165678	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3284+1del	472	ATM	Pathogenic	-1	RCV002900621;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143579	108143579	NC_000011.9:g.108143580del	-
NM_000051.4(ATM):c.3284+1G>A	472	ATM	Likely pathogenic	864622129	RCV000206819\|RCV000220530\|RCV000235974;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108143580	108143580	11:g.108143580G>A	ClinGen:CA350813	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3284+1G>C	472	ATM	Likely pathogenic	864622129	RCV000459518\|RCV002323709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108143580	108143580	NC_000011.9:g.108143580G>C	ClinGen:CA16613402	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3284+3A>G	472	ATM	Uncertain significance	1591610398	RCV000798320\|RCV002442645\|RCV003321740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108143582	108143582	11:g.108143582A>G	-
NM_000051.4(ATM):c.3284+4del	472	ATM	Conflicting interpretations of pathogenicity	761592860	RCV001019661\|RCV001860954;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143582	108143582	11:g.108143582_108143582del	-
NM_000051.4(ATM):c.3284+4A>G	472	ATM	Uncertain significance	1591610423	RCV000791942\|RCV003472333;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108143583	108143583	11:g.108143583A>G	-
NM_000051.4(ATM):c.3284+8dup	472	ATM	Conflicting interpretations of pathogenicity	886047611	RCV000374329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143584	108143585	NC_000011.9:g.108143587dup	ClinGen:CA10629781	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3284+6G>C	472	ATM	Likely benign	1228954245	RCV000698311;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143585	108143585	11:g.108143585G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3284+6G>A	472	ATM	Likely benign	-1	RCV002681802;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143585	108143585	NC_000011.9:g.108143585G>A	-
NM_000051.4(ATM):c.3284+7G>C	472	ATM	Conflicting interpretations of pathogenicity	371629629	RCV000439083\|RCV000534218;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143586	108143586	11:g.108143586G>C	ClinGen:CA6265241	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3284+7G>A	472	ATM	Likely benign	371629629	RCV000559184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143586	108143586	11:g.108143586G>A	ClinGen:CA658656187	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3284+8G>A	472	ATM	Likely benign	-1	RCV003097470;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143587	108143587	NC_000011.9:g.108143587G>A	-
NM_000051.4(ATM):c.3284+9T>C	472	ATM	Likely benign	1555086278	RCV000606223\|RCV001437675;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143588	108143588	11:g.108143588T>C	ClinGen:CA658797793	CN169374 not specified;
NM_000051.4(ATM):c.3284+10C>G	472	ATM	Likely benign	2081674914	RCV001181222\|RCV002559779;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143589	108143589	11:g.108143589C>G	-
NM_000051.4(ATM):c.3284+11A>C	472	ATM	Likely benign	1565429231	RCV000775108\|RCV002061098;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143590	108143590	NC_000011.9:g.108143590A>C	-
NM_000051.4(ATM):c.3284+16T>G	472	ATM	Benign/Likely benign	376541962	RCV000582209\|RCV001619800\|RCV002060593;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143595	108143595	11:g.108143595T>G	ClinGen:CA6265242	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3284+19A>G	472	ATM	Likely benign	2135573831	RCV002212361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143598	108143598	108143598	-
NM_000051.4(ATM):c.3284+19A>T	472	ATM	Likely benign	-1	RCV002608293;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143598	108143598	NC_000011.9:g.108143598A>T	-
NM_000051.4(ATM):c.3284+20T>C	472	ATM	Likely benign	1448789912	RCV001181183\|RCV002558994;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108143599	108143599	11:g.108143599T>C	-
NM_000051.4(ATM):c.3285-19T>C	472	ATM	Likely benign	749167327	RCV001187307\|RCV001862949;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150199	108150199	11:g.108150199T>C	-
NM_000051.4(ATM):c.3285-16G>C	472	ATM	Likely benign	-1	RCV003067246;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150202	108150202	NC_000011.9:g.108150202G>C	-
NM_000051.4(ATM):c.3285-15C>T	472	ATM	Benign/Likely benign	770928986	RCV000433000\|RCV000580399\|RCV001355173\|RCV002061636;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150203	108150203	11:g.108150203C>T	ClinGen:CA6265256	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3285-13del	472	ATM	Likely benign	1245305174	RCV000583650\|RCV002060594;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150204	108150204	NC_000011.9:g.108150205del	ClinGen:CA658683774	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3285-14T>C	472	ATM	Conflicting interpretations of pathogenicity	2082112216	RCV001176378\|RCV002067878;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150204	108150204	11:g.108150204T>C	-
NM_000051.4(ATM):c.3285-13_3285-9del	472	ATM	Likely benign	2082112477	RCV001473405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150204	108150208	108150203	-
NM_000051.4(ATM):c.3285-12G>A	472	ATM	Conflicting interpretations of pathogenicity	1057521452	RCV000442856\|RCV001805048\|RCV002062531;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150206	108150206	11:g.108150206G>A	ClinGen:CA16606059	CN169374 not specified;
NM_000051.4(ATM):c.3285-9del	472	ATM	Benign/Likely benign	1799757	RCV000246334\|RCV000282415\|RCV000579796\|RCV001795282\|RCV002225460;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108150208	108150208	NC_000011.9:g.108150209del	ClinGen:CA297998	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108279481)_(108281178_?)del	472	ATM	Pathogenic	-1	RCV001032913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150208	108151905	-1	-
NC_000011.9:g.(?_108150208)_(108225611_?)dup	472	ATM	Likely pathogenic	-1	RCV001378293;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150208	108225611	-1	-
NM_000051.4(ATM):c.3285-8G>C	472	ATM	Uncertain significance	1469259085	RCV001048292;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150210	108150210	11:g.108150210G>C	-
NM_000051.4(ATM):c.3285-8G>A	472	ATM	Likely benign	1469259085	RCV002164685;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150210	108150210	108150210	-
NM_000051.4(ATM):c.3285-7T>C	472	ATM	Conflicting interpretations of pathogenicity	913535107	RCV000773651\|RCV001503747;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150211	108150211	NC_000011.9:g.108150211T>C	-
NC_000011.9:g.(?_108150212)_(108216641_?)del	472	ATM	Pathogenic	-1	RCV000550706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150212	108216641		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3285-5T>C	472	ATM	Conflicting interpretations of pathogenicity	876659715	RCV000214287\|RCV001417887;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150213	108150213	11:g.108150213T>C	ClinGen:CA10579094	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3285-2_3296dup	472	ATM	Pathogenic	1591631866	RCV000822113;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150214	108150215	11:g.108150214_108150215insAAGATTGTTCCAGG	-
NM_000051.4(ATM):c.3285-2_3285-1insAAAAAAAAAAAAAAAAAAAAAAAA	472	ATM	Pathogenic	2135642194	RCV001382864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150214	108150215	108150214	-
NM_000051.4(ATM):c.3285-2A>G	472	ATM	Pathogenic	1591631876	RCV000791610\|RCV001310100;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150216	108150216	11:g.108150216A>G	-
NM_000051.4(ATM):c.3287T>C (p.Leu1096Ser)	472	ATM	Uncertain significance	2082114508	RCV001211693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150220	108150220	11:g.108150220T>C	-
NM_000051.4(ATM):c.3288G>A (p.Leu1096=)	472	ATM	Likely benign	2135642354	RCV002146823;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150221	108150221	108150221	-
NM_000051.4(ATM):c.3291C>G (p.Phe1097Leu)	472	ATM	Uncertain significance	876658491	RCV000215026\|RCV000460107\|RCV000481643;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108150224	108150224	11:g.108150224C>G	ClinGen:CA10579095	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3292del (p.Gln1098fs)	472	ATM	Pathogenic/Likely pathogenic	1555090075	RCV000671707\|RCV001019714\|RCV003465510;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150224	108150224	11:g.108150224_108150224del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3292C>G (p.Gln1098Glu)	472	ATM	Uncertain significance	773964990	RCV000566290\|RCV001858173;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150225	108150225	11:g.108150225C>G	ClinGen:CA382517285	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3292C>T (p.Gln1098Ter)	472	ATM	Pathogenic	773964990	RCV001207152;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150225	108150225	11:g.108150225C>T	-
NM_000051.4(ATM):c.3293A>G (p.Gln1098Arg)	472	ATM	Uncertain significance	1060501590	RCV000476634\|RCV000482771\|RCV000581017\|RCV002248677\|RCV003476057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150226	108150226	NC_000011.9:g.108150226A>G	ClinGen:CA16613128	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3295G>A (p.Asp1099Asn)	472	ATM	Conflicting interpretations of pathogenicity	372966951	RCV000168114\|RCV000214286\|RCV000590021\|RCV001354999\|RCV001731417\|RCV003462257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108150228	108150228	NC_000011.9:g.108150228G>A	ClinGen:CA334286	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3295G>T (p.Asp1099Tyr)	472	ATM	Uncertain significance	372966951	RCV000482385\|RCV000546836\|RCV000574828;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150228	108150228	11:g.108150228G>T	ClinGen:CA16619158	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3297del (p.Asp1099fs)	472	ATM	Pathogenic	2082115419	RCV001208853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150230	108150230	11:g.108150230_108150230del	-
NM_000051.4(ATM):c.3298A>G (p.Thr1100Ala)	472	ATM	Uncertain significance	2082115524	RCV001209961;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150231	108150231	11:g.108150231A>G	-
NM_000051.4(ATM):c.3298A>C (p.Thr1100Pro)	472	ATM	Uncertain significance	2082115524	RCV001244832\|RCV001526210\|RCV001819947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108150231	108150231	11:g.108150231A>C	-
NM_000051.4(ATM):c.3299C>T (p.Thr1100Met)	472	ATM	Conflicting interpretations of pathogenicity	189445371	RCV000159762\|RCV000215728\|RCV000559406\|RCV003467241;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150232	108150232	NC_000011.9:g.108150232C>T	ClinGen:CA298348	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3300G>A (p.Thr1100=)	472	ATM	Conflicting interpretations of pathogenicity	587780621	RCV000122841\|RCV000162548\|RCV000779771\|RCV001356792\|RCV001657770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	11	108150233	108150233	NC_000011.9:g.108150233G>A	ClinGen:CA186446	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3300G>T (p.Thr1100=)	472	ATM	Likely benign	587780621	RCV000773528\|RCV002534076;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150233	108150233	NC_000011.9:g.108150233G>T	-
NM_000051.4(ATM):c.3303G>A (p.Lys1101=)	472	ATM	Likely benign	925487325	RCV000431655\|RCV000469560\|RCV000571039\|RCV001705548;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108150236	108150236	11:g.108150236G>A	ClinGen:CA16606062	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3304G>T (p.Gly1102Ter)	472	ATM	Pathogenic	147557621	RCV000159714\|RCV000213174\|RCV001388988;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150237	108150237	NC_000011.9:g.108150237G>T	ClinGen:CA298219	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3304G>A (p.Gly1102Arg)	472	ATM	Uncertain significance	147557621	RCV000535575\|RCV001019822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150237	108150237	11:g.108150237G>A	ClinGen:CA6265260	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3307G>C (p.Asp1103His)	472	ATM	Uncertain significance	1555090114	RCV000575057\|RCV000805700\|RCV002476234;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150240	108150240	11:g.108150240G>C	ClinGen:CA382517380	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3307G>A (p.Asp1103Asn)	472	ATM	Uncertain significance	1555090114	RCV000628109\|RCV001019842\|RCV003229849;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108150240	108150240	11:g.108150240G>A	ClinGen:CA382517376	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3308A>G (p.Asp1103Gly)	472	ATM	Uncertain significance	1555090118	RCV000574557\|RCV000705194;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150241	108150241	11:g.108150241A>G	ClinGen:CA382517390	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3308A>T (p.Asp1103Val)	472	ATM	Uncertain significance	1555090118	RCV000808726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150241	108150241	11:g.108150241A>T	-
NM_000051.4(ATM):c.3308A>C (p.Asp1103Ala)	472	ATM	Uncertain significance	1555090118	RCV001019843\|RCV002549510\|RCV003461383;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150241	108150241	11:g.108150241A>C	-
NM_000051.4(ATM):c.3309T>G (p.Asp1103Glu)	472	ATM	Uncertain significance	764102178	RCV001046242\|RCV002320264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150242	108150242	11:g.108150242T>G	-
NM_000051.4(ATM):c.3311C>G (p.Ser1104Cys)	472	ATM	Uncertain significance	1555090126	RCV000548495\|RCV000563904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150244	108150244	11:g.108150244C>G	ClinGen:CA382517422	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3311C>A (p.Ser1104Tyr)	472	ATM	Uncertain significance	1555090126	RCV000803009\|RCV001019903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150244	108150244	11:g.108150244C>A	-
NM_000051.4(ATM):c.3315dup (p.Arg1106fs)	472	ATM	Pathogenic/Likely pathogenic	1057516301	RCV000410832;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150246	108150247	NC_000011.9:g.108150248dup	ClinGen:CA16041399	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3314C>A (p.Ser1105Tyr)	472	ATM	Uncertain significance	141999815	RCV001324359;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150247	108150247	108150247	-
NM_000051.4(ATM):c.3314C>G (p.Ser1105Cys)	472	ATM	Uncertain significance	-1	RCV003040920;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150247	108150247	NC_000011.9:g.108150247C>G	-
NM_000051.4(ATM):c.3315C>T (p.Ser1105=)	472	ATM	Likely benign	-1	RCV002454724\|RCV003099393;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150248	108150248		-
NM_000051.4(ATM):c.3316A>C (p.Arg1106=)	472	ATM	Likely benign	2135643101	RCV002139358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150249	108150249	108150249	-
NM_000051.4(ATM):c.3316A>G (p.Arg1106Gly)	472	ATM	Uncertain significance	-1	RCV002681218;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150249	108150249	NC_000011.9:g.108150249A>G	-
NM_000051.4(ATM):c.3317G>A (p.Arg1106Lys)	472	ATM	Uncertain significance	-1	RCV003093384;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150250	108150250	NC_000011.9:g.108150250G>A	-
NM_000051.4(ATM):c.3320_3323del (p.Arg1106_Leu1107insTer)	472	ATM	Likely pathogenic	1555090139	RCV000664518;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150252	108150255	11:g.108150252_108150255del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3320T>A (p.Leu1107Ter)	472	ATM	Pathogenic	1060501711	RCV000460640\|RCV000485900\|RCV000571628\|RCV003470445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150253	108150253	NC_000011.9:g.108150253T>A	ClinGen:CA16613322	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3321A>T (p.Leu1107Phe)	472	ATM	Uncertain significance	2135643264	RCV001979846;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150254	108150254	108150254	-
NM_000051.4(ATM):c.3323T>C (p.Leu1108Pro)	472	ATM	Uncertain significance	2082117640	RCV001206997\|RCV003363155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150256	108150256	11:g.108150256T>C	-
NM_000051.4(ATM):c.3324G>C (p.Leu1108=)	472	ATM	Likely benign	762269034	RCV000574843\|RCV001082543\|RCV000842403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108150257	108150257	NC_000011.9:g.108150257G>C	ClinGen:CA16613403	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3324G>A (p.Leu1108=)	472	ATM	Likely benign	-1	RCV002654606\|RCV003162074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150257	108150257		-
NM_000051.4(ATM):c.3328G>A (p.Ala1110Thr)	472	ATM	Uncertain significance	147112946	RCV000165692\|RCV000470366\|RCV000779805\|RCV000763697\|RCV001577537\|RCV003468752;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108150261	108150261	11:g.108150261G>A	ClinGen:CA194002	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3329C>T (p.Ala1110Val)	472	ATM	Uncertain significance	1479434069	RCV001977078\|RCV003464364;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150262	108150262	108150262	-
NM_000051.4(ATM):c.3330A>G (p.Ala1110=)	472	ATM	Likely benign	1009383081	RCV000575338\|RCV001486406;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150263	108150263	NC_000011.9:g.108150263A>G	ClinGen:CA228363435	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3330A>C (p.Ala1110=)	472	ATM	Likely benign	1009383081	RCV002177842;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150263	108150263	108150263	-
NM_000051.4(ATM):c.3331C>G (p.Leu1111Val)	472	ATM	Uncertain significance	587779832	RCV000206179\|RCV000568599\|RCV000587896\|RCV001262811;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150264	108150264	NC_000011.9:g.108150264C>G	ClinGen:CA286803	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3332T>C (p.Leu1111Pro)	472	ATM	Uncertain significance	876658363	RCV000215312\|RCV001726054\|RCV001853512\|RCV002465569;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108150265	108150265	11:g.108150265T>C	ClinGen:CA10579096	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3333T>G (p.Leu1111=)	472	ATM	Likely benign	750932338	RCV001187308\|RCV001423872;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150266	108150266	11:g.108150266T>G	-
NM_000051.4(ATM):c.3334C>G (p.Pro1112Ala)	472	ATM	Uncertain significance	876658963	RCV000218836\|RCV000236715\|RCV001045994;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150267	108150267	11:g.108150267C>G	ClinGen:CA10579097	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3334C>T (p.Pro1112Ser)	472	ATM	Uncertain significance	876658963	RCV000562524\|RCV001231017\|RCV003465223;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150267	108150267	NC_000011.9:g.108150267C>T	ClinGen:CA382517570	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3335del (p.Pro1112fs)	472	ATM	Pathogenic	876660031	RCV001924541;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150267	108150267	108150266	-
NM_000051.4(ATM):c.3335C>G (p.Pro1112Arg)	472	ATM	Uncertain significance	1064795850	RCV000482608\|RCV000766967\|RCV001020017\|RCV001210490;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150268	108150268	NC_000011.9:g.108150268C>G	ClinGen:CA16619159	CN169374 not specified;
NM_000051.4(ATM):c.3336T>A (p.Pro1112=)	472	ATM	Benign/Likely benign	758784434	RCV000197409\|RCV000223244\|RCV000439128;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108150269	108150269	NC_000011.9:g.108150269T>A	ClinGen:CA337189	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3337T>A (p.Leu1113Met)	472	ATM	Uncertain significance	1022672642	RCV000811460\|RCV001772096\|RCV002325583;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150270	108150270	11:g.108150270T>A	-
NM_000051.4(ATM):c.3337T>C (p.Leu1113=)	472	ATM	Likely benign	-1	RCV002889923;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150270	108150270		-
NM_000051.4(ATM):c.3338T>C (p.Leu1113Ser)	472	ATM	Uncertain significance	1591632166	RCV000817736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150271	108150271	11:g.108150271T>C	-
NM_000051.4(ATM):c.3338T>A (p.Leu1113Ter)	472	ATM	Pathogenic	1591632166	RCV001212049;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150271	108150271	11:g.108150271T>A	-
NM_000051.4(ATM):c.3339G>A (p.Leu1113=)	472	ATM	Likely benign	1591632173	RCV001468084\|RCV002320116;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150272	108150272	11:g.108150272G>A	-
NM_000051.4(ATM):c.3340A>G (p.Lys1114Glu)	472	ATM	Uncertain significance	1049900772	RCV001218274\|RCV002259093\|RCV002504269;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150273	108150273	11:g.108150273A>G	-
NM_000051.4(ATM):c.3341A>G (p.Lys1114Arg)	472	ATM	Conflicting interpretations of pathogenicity	777705500	RCV000221075\|RCV000481285\|RCV000524647;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150274	108150274	11:g.108150274A>G	ClinGen:CA10579099	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3341A>T (p.Lys1114Met)	472	ATM	Uncertain significance	777705500	RCV000811573\|RCV002325584\|RCV003467455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150274	108150274	11:g.108150274A>T	-
NM_000051.4(ATM):c.3342G>A (p.Lys1114=)	472	ATM	Conflicting interpretations of pathogenicity	138393322	RCV000123738\|RCV000211997\|RCV000586815\|RCV000988672\|RCV001356781\|RCV001798392\|RCV003315807;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108150275	108150275	11:g.108150275G>A	ClinGen:CA289556	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3343C>T (p.Leu1115Phe)	472	ATM	Uncertain significance	752339681	RCV001365671\|RCV001799073\|RCV003469603;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150276	108150276	108150276	-
NM_000051.4(ATM):c.3349_3384del (p.Gln1117_Gln1128del)	472	ATM	Uncertain significance	2135643982	RCV002014287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150278	108150313	108150277	-
NM_000051.4(ATM):c.3347A>C (p.Gln1116Pro)	472	ATM	Uncertain significance	1555090213	RCV000541784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150280	108150280	11:g.108150280A>C	ClinGen:CA382517632	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3347A>T (p.Gln1116Leu)	472	ATM	Uncertain significance	-1	RCV003019517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150280	108150280	NC_000011.9:g.108150280A>T	-
NM_000051.4(ATM):c.3349C>T (p.Gln1117Ter)	472	ATM	Pathogenic	786201957	RCV000164505\|RCV000554388;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150282	108150282	11:g.108150282C>T	ClinGen:CA191131	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3351_3354del (p.Thr1118fs)	472	ATM	Pathogenic/Likely pathogenic	1057516446	RCV000411536\|RCV003168588\|RCV003449030;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150282	108150285	NC_000011.9:g.108150284_108150287del	ClinGen:CA16041400	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3350A>G (p.Gln1117Arg)	472	ATM	Uncertain significance	755828033	RCV001191538\|RCV001586033\|RCV001859153;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150283	108150283	11:g.108150283A>G	-
NM_000051.4(ATM):c.3352del (p.Thr1118fs)	472	ATM	Pathogenic	2082120435	RCV001202623;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150283	108150283	11:g.108150283_108150283del	-
NM_000051.4(ATM):c.3351A>G (p.Gln1117=)	472	ATM	Likely benign	777375945	RCV000567254\|RCV000907897;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150284	108150284	NC_000011.9:g.108150284A>G	ClinGen:CA6265267	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3352A>G (p.Thr1118Ala)	472	ATM	Conflicting interpretations of pathogenicity	572564322	RCV000159715\|RCV000211998\|RCV000335065\|RCV003226222;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108150285	108150285	NC_000011.9:g.108150285A>G	ClinGen:CA298222	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3353C>T (p.Thr1118Ile)	472	ATM	Uncertain significance	539847847	RCV000466800\|RCV000771872\|RCV001764395\|RCV003227752;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150286	108150286	NC_000011.9:g.108150286C>T	ClinGen:CA16613034	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3354A>G (p.Thr1118=)	472	ATM	Benign/Likely benign	377316982	RCV000164997\|RCV000197319\|RCV001171665\|RCV003235083;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108150287	108150287	11:g.108150287A>G	ClinGen:CA192263	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3355G>T (p.Ala1119Ser)	472	ATM	Uncertain significance	786201956	RCV000164504\|RCV000525993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150288	108150288	11:g.108150288G>T	ClinGen:CA191128	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3356C>A (p.Ala1119Asp)	472	ATM	Uncertain significance	778882461	RCV000218704\|RCV001217115;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150289	108150289	11:g.108150289C>A	ClinGen:CA10579100	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3356C>T (p.Ala1119Val)	472	ATM	Uncertain significance	778882461	RCV000571426\|RCV001247532\|RCV001576444;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108150289	108150289	NC_000011.9:g.108150289C>T	ClinGen:CA6265268	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3360T>G (p.Phe1120Leu)	472	ATM	Uncertain significance	2082121277	RCV001065042;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150293	108150293	11:g.108150293T>G	-
NM_000051.4(ATM):c.3376_3377insTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAGGAGTTCGAGACCA	472	ATM	Pathogenic	2135644510	RCV001390532;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150293	108150294	108150293	-
NM_000051.4(ATM):c.3376_3377insGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGGT	472	ATM	Pathogenic	2135644510	RCV002000137;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150293	108150294	108150293	-
NM_000051.4(ATM):c.3362A>G (p.Glu1121Gly)	472	ATM	Uncertain significance	876660607	RCV000214269\|RCV000628036;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150295	108150295	11:g.108150295A>G	ClinGen:CA10579101	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3365A>G (p.Asn1122Ser)	472	ATM	Uncertain significance	745863765	RCV000219389\|RCV000478505\|RCV001853542;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150298	108150298	11:g.108150298A>G	ClinGen:CA6265269	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3366T>C (p.Asn1122=)	472	ATM	Likely benign	2135644622	RCV001503449\|RCV002458482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150299	108150299	108150299	-
NM_000051.4(ATM):c.3366del (p.Asn1122fs)	472	ATM	Pathogenic	-1	RCV003023097;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150299	108150299	NC_000011.9:g.108150299del	-
NM_000051.4(ATM):c.3367G>C (p.Ala1123Pro)	472	ATM	Uncertain significance	1060501581	RCV000474228;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150300	108150300	NC_000011.9:g.108150300G>C	ClinGen:CA16613326	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3367G>A (p.Ala1123Thr)	472	ATM	Uncertain significance	1060501581	RCV002038573;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150300	108150300	108150300	-
NM_000051.4(ATM):c.3368C>A (p.Ala1123Glu)	472	ATM	Uncertain significance	2135644677	RCV002013583;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150301	108150301	108150301	-
NM_000051.4(ATM):c.3368C>T (p.Ala1123Val)	472	ATM	Uncertain significance	-1	RCV002302180;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150301	108150301	108150301	-
NM_000051.4(ATM):c.3369A>G (p.Ala1123=)	472	ATM	Benign/Likely benign	587780543	RCV000119175\|RCV000213592\|RCV001675627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108150302	108150302	11:g.108150302A>G	ClinGen:CA332028	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3369del (p.Tyr1124fs)	472	ATM	Pathogenic	587781752	RCV000129958\|RCV001849926;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150302	108150302	11:g.108150302_108150302del	ClinGen:CA165421	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3369A>T (p.Ala1123=)	472	ATM	Likely benign	587780543	RCV001449349;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150302	108150302	108150302	-
NM_000051.4(ATM):c.3370T>C (p.Tyr1124His)	472	ATM	Uncertain significance	2082121841	RCV001052696\|RCV001759788;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108150303	108150303	11:g.108150303T>C	-
NM_000051.4(ATM):c.3371A>T (p.Tyr1124Phe)	472	ATM	Uncertain significance	876660498	RCV000223446\|RCV000538570\|RCV000590071\|RCV000763698\|RCV001263507\|RCV003462527;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108150304	108150304	11:g.108150304A>T	ClinGen:CA10579102	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3371A>G (p.Tyr1124Cys)	472	ATM	Uncertain significance	876660498	RCV000461083\|RCV001185535;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150304	108150304	NC_000011.9:g.108150304A>G	ClinGen:CA16613327	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3371A>C (p.Tyr1124Ser)	472	ATM	Uncertain significance	-1	RCV002451750\|RCV003099435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150304	108150304	108150304	-
NM_000051.4(ATM):c.3372C>G (p.Tyr1124Ter)	472	ATM	Pathogenic/Likely pathogenic	587779833	RCV000115176\|RCV000169463\|RCV000211999\|RCV000515217\|RCV003467025;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108150305	108150305	NC_000011.9:g.108150305C>G	ClinGen:CA274336	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3372C>T (p.Tyr1124=)	472	ATM	Likely benign	587779833	RCV001432188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150305	108150305	108150305	-
NM_000051.4(ATM):c.3373T>C (p.Leu1125=)	472	ATM	Likely benign	775277598	RCV001404008;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150306	108150306	108150306	-
NM_000051.4(ATM):c.3373T>G (p.Leu1125Val)	472	ATM	Uncertain significance	775277598	RCV001943200;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150306	108150306	108150306	-
NM_000051.4(ATM):c.3375G>A (p.Leu1125=)	472	ATM	Likely benign	760821273	RCV001421792\|RCV002456686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150308	108150308	108150308	-
NM_000051.4(ATM):c.3376A>G (p.Lys1126Glu)	472	ATM	Uncertain significance	1310591343	RCV000821189\|RCV003321752;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108150309	108150309	11:g.108150309A>G	-
NM_000051.4(ATM):c.3378A>G (p.Lys1126=)	472	ATM	Conflicting interpretations of pathogenicity	149182949	RCV000164706\|RCV000206390\|RCV000858786\|RCV001357285;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	11	108150311	108150311	11:g.108150311A>G	ClinGen:CA191584	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3380C>A (p.Ala1127Asp)	472	ATM	Uncertain significance	1555090340	RCV000628033;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150313	108150313	11:g.108150313C>A	ClinGen:CA382517741	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3381_3384del (p.Gln1128fs)	472	ATM	Pathogenic/Likely pathogenic	587781971	RCV000130359\|RCV000410669\|RCV001778751\|RCV003467144;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150314	108150317	11:g.108150314_108150317del	ClinGen:CA166260	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3381T>C (p.Ala1127=)	472	ATM	Likely benign	1371503633	RCV000773534\|RCV002067271;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150314	108150314	NC_000011.9:g.108150314T>C	-
NM_000051.4(ATM):c.3382C>G (p.Gln1128Glu)	472	ATM	Uncertain significance	876659825	RCV000219396\|RCV000695904;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150315	108150315	11:g.108150315C>G	ClinGen:CA10579103	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3382C>T (p.Gln1128Ter)	472	ATM	Pathogenic	876659825	RCV000531887;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150315	108150315	11:g.108150315C>T	ClinGen:CA382517750	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg)	472	ATM	Benign/Likely benign	2229020	RCV000120133\|RCV000128988\|RCV000204666\|RCV000224651\|RCV001356319\|RCV002225359\|RCV002492418\|RCV003315725;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108150316	108150316	11:g.108150316A>G	ClinGen:CA157104	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3385G>A (p.Glu1129Lys)	472	ATM	Uncertain significance	876658463	RCV000217024\|RCV001833222;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150318	108150318	11:g.108150318G>A	ClinGen:CA10579104	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3388G>T (p.Gly1130Ter)	472	ATM	Pathogenic	587781911	RCV000130253\|RCV001223207;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150321	108150321	11:g.108150321G>T	ClinGen:CA166048	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3388G>A (p.Gly1130Arg)	472	ATM	Uncertain significance	587781911	RCV000685398\|RCV000779784\|RCV001020164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150321	108150321	11:g.108150321G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3389G>C (p.Gly1130Ala)	472	ATM	Uncertain significance	1060501544	RCV000475933;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150322	108150322	NC_000011.9:g.108150322G>C	ClinGen:CA16613035	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3392T>C (p.Met1131Thr)	472	ATM	Uncertain significance	2082123790	RCV001210563;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150325	108150325	11:g.108150325T>C	-
NM_000051.4(ATM):c.3393G>A (p.Met1131Ile)	472	ATM	Uncertain significance	1565439576	RCV001186624\|RCV001244690;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150326	108150326	11:g.108150326G>A	-
NM_000051.4(ATM):c.3394A>G (p.Arg1132Gly)	472	ATM	Uncertain significance	1591632541	RCV001020183\|RCV001873329\|RCV002272387\|RCV003467655;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150327	108150327	11:g.108150327A>G	-
NM_000051.4(ATM):c.3395G>A (p.Arg1132Lys)	472	ATM	Uncertain significance	2135645575	RCV001508322\|RCV002564239;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150328	108150328	108150328	-
NM_000051.4(ATM):c.3396A>T (p.Arg1132Ser)	472	ATM	Uncertain significance	-1	RCV002630234;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150329	108150329	NC_000011.9:g.108150329A>T	-
NM_000051.4(ATM):c.3398A>T (p.Glu1133Val)	472	ATM	Uncertain significance	1565439583	RCV000709178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150331	108150331	11:g.108150331A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3398A>G (p.Glu1133Gly)	472	ATM	Uncertain significance	1565439583	RCV001063311;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150331	108150331	11:g.108150331A>G	-
NM_000051.4(ATM):c.3399A>C (p.Glu1133Asp)	472	ATM	Uncertain significance	1555090364	RCV000568675\|RCV000805710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150332	108150332	NC_000011.9:g.108150332A>C	ClinGen:CA382517870	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3400A>C (p.Met1134Leu)	472	ATM	Uncertain significance	1591632583	RCV000805670;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150333	108150333	11:g.108150333A>C	-
NM_000051.4(ATM):c.3400A>G (p.Met1134Val)	472	ATM	Conflicting interpretations of pathogenicity	1591632583	RCV000818877\|RCV001192169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150333	108150333	11:g.108150333A>G	-
NM_000051.4(ATM):c.3402+1G>A	472	ATM	Likely pathogenic	1565439606	RCV001052757\|RCV002451217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150336	108150336	11:g.108150336G>A	-
NM_000051.4(ATM):c.3402+1G>T	472	ATM	Likely pathogenic	1565439606	RCV001234522;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150336	108150336	11:g.108150336G>T	-
NM_000051.4(ATM):c.3402+3A>G	472	ATM	Uncertain significance	786203688	RCV000167104\|RCV000627841\|RCV001731495\|RCV002265648\|RCV003416044;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|	11	108150338	108150338	11:g.108150338A>G	ClinGen:CA197505	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3402+3A>C	472	ATM	Conflicting interpretations of pathogenicity	786203688	RCV001020212\|RCV001070106\|RCV003229007;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108150338	108150338	11:g.108150338A>C	-
NM_000051.4(ATM):c.3402+5T>C	472	ATM	Conflicting interpretations of pathogenicity	1057520229	RCV000563526\|RCV000628103\|RCV001718810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108150340	108150340	11:g.108150340T>C	ClinGen:CA16606064	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3402+9A>G	472	ATM	Likely benign	761919506	RCV000437875\|RCV000777901\|RCV000905628;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150344	108150344	11:g.108150344A>G	ClinGen:CA6265272	CN169374 not specified;
NM_000051.4(ATM):c.3402+10A>C	472	ATM	Likely benign	919002854	RCV000602421\|RCV000934581\|RCV001191215;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108150345	108150345	11:g.108150345A>C	ClinGen:CA228363635	CN169374 not specified;
NM_000051.4(ATM):c.3402+10A>G	472	ATM	Likely benign	919002854	RCV002135149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150345	108150345	108150345	-
NM_000051.4(ATM):c.3402+13A>C	472	ATM	Likely benign	2082125198	RCV002090348;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150348	108150348	108150348	-
NM_000051.4(ATM):c.3402+14A>C	472	ATM	Benign/Likely benign	200494541	RCV000583505\|RCV001712591\|RCV002060595;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150349	108150349	NC_000011.9:g.108150349A>C	ClinGen:CA6265274	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3402+16A>G	472	ATM	Conflicting interpretations of pathogenicity	763382531	RCV000581378\|RCV000590240\|RCV002060596\|RCV003316756;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150351	108150351	NC_000011.9:g.108150351A>G	ClinGen:CA6265275	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3402+16A>T	472	ATM	Likely benign	-1	RCV003084941;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150351	108150351	NC_000011.9:g.108150351A>T	-
NM_000051.4(ATM):c.3402+17T>C	472	ATM	Benign/Likely benign	3092825	RCV000123740\|RCV000580637\|RCV001795220\|RCV002055422\|RCV003315834;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108150352	108150352	NC_000011.9:g.108150352T>C	ClinGen:CA289559	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3402+17T>A	472	ATM	Likely benign	-1	RCV003072645;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150352	108150352	NC_000011.9:g.108150352T>A	-
NM_000051.4(ATM):c.3402+18G>A	472	ATM	Likely benign	752000273	RCV000605231\|RCV002063119;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150353	108150353	11:g.108150353G>A	ClinGen:CA6265276	CN169374 not specified;
NM_000051.4(ATM):c.3402+18G>C	472	ATM	Likely benign	752000273	RCV001180882\|RCV002559772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150353	108150353	11:g.108150353G>C	-
NM_000051.4(ATM):c.3402+32_3402+34del	472	ATM	Benign/Likely benign	545376366	RCV000834697\|RCV001518627\|RCV002257994\|RCV002465795;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108150365	108150367	11:g.108150365_108150367del	-
NM_000051.4(ATM):c.3402+70A>G	472	ATM	Likely benign	3218671	RCV000835388\|RCV001830852\|RCV002225746;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108150405	108150405	11:g.108150405A>G	-
NC_000011.9:g.(?_108150557)_(108153493_?)del	472	ATM	Likely pathogenic	-1	RCV002033748;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108150557	108153493	-1	-
NM_000051.4(ATM):c.3403-34T>A	472	ATM	Benign/Likely benign	148368017	RCV001663087\|RCV001694148\|RCV001827555\|RCV002225899;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108151688	108151688	108151688	-
NM_000051.4(ATM):c.3403-15dup	472	ATM	Benign	1555091083	RCV000224503\|RCV001273728\|RCV001795356\|RCV001798727;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:CN221562	11	108151697	108151698	11:g.108151697_108151698insT	ClinGen:CA6265285	CN517202 not provided;
NM_000051.4(ATM):c.3403-16_3403-15insA	472	ATM	Benign/Likely benign	569564716	RCV000670064\|RCV001577656\|RCV003321713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108151706	108151707	11:g.108151706_108151707insA	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3403-15T>A	472	ATM	Benign/Likely benign	79701258	RCV000123741\|RCV000373309\|RCV000447892\|RCV001357621\|RCV001798413\|RCV003315835;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108151707	108151707	NC_000011.9:g.108151707T>A	ClinGen:CA289560	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3403-13dup	472	ATM	Benign/Likely benign	3218681	RCV000159614\|RCV000192572\|RCV000286085\|RCV001618317\|RCV001798541;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN221562	11	108151707	108151708	NC_000011.9:g.108151709dup	ClinGen:CA163913	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3403-14A>T	472	ATM	Benign	941737393	RCV000988674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151708	108151708	11:g.108151708A>T	-
NM_000051.4(ATM):c.3403-14_3403-13del	472	ATM	Benign	1565441205	RCV000988673;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151708	108151709	11:g.108151708_108151709del	-
NM_000051.4(ATM):c.3403-13A>T	472	ATM	Benign	1591636037	RCV000988675;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151709	108151709	11:g.108151709A>T	-
NC_000011.9:g.(?_108151710)_(108192157_?)dup	472	ATM	Likely pathogenic	-1	RCV001378294;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151710	108192157	-1	-
NC_000011.9:g.(?_108151710)_(108160538_?)del	472	ATM	Pathogenic	-1	RCV001381597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151710	108160538	-1	-
NC_000011.10:g.(?_108280985)_(108365518_?)del	472	ATM	Pathogenic	-1	RCV000824669;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151712	108236245		-
NC_000011.10:g.(?_108280985)_(108287725_?)del	472	ATM	Pathogenic	-1	RCV001033435;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151712	108158452	-1	-
NM_000051.4(ATM):c.3403-9C>T	472	ATM	Benign	375483605	RCV000988676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151713	108151713	11:g.108151713C>T	-
NM_000051.4(ATM):c.3403-9C>A	472	ATM	Conflicting interpretations of pathogenicity	375483605	RCV002073064\|RCV001658873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151713	108151713	108151713	-
NM_000051.4(ATM):c.3403-8_3403-4del	472	ATM	Conflicting interpretations of pathogenicity	1555091114	RCV000581979\|RCV001053060;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151714	108151718	11:g.108151714_108151718del	ClinGen:CA658683107	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3403-8T>C	472	ATM	Likely benign	-1	RCV003000036;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151714	108151714	NC_000011.9:g.108151714T>C	-
NM_000051.4(ATM):c.3403-7T>C	472	ATM	Likely benign	1335592958	RCV001488054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151715	108151715	11:g.108151715T>C	-
NM_000051.4(ATM):c.3403-6T>C	472	ATM	Uncertain significance	2082201418	RCV001046815;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151716	108151716	11:g.108151716T>C	-
NM_000051.4(ATM):c.3403-6T>G	472	ATM	Uncertain significance	2082201418	RCV001320477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151716	108151716	108151716	-
NM_000051.4(ATM):c.3403-4T>C	472	ATM	Benign	1591636158	RCV001020216\|RCV001273729;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151718	108151718	11:g.108151718T>C	-
NM_000051.4(ATM):c.3403-3A>C	472	ATM	Conflicting interpretations of pathogenicity	374866638	RCV000561623\|RCV000628193;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151719	108151719	NC_000011.9:g.108151719A>C	ClinGen:CA6265290	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3403-1G>A	472	ATM	Likely pathogenic	1555091120	RCV000571900\|RCV001858067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151721	108151721	11:g.108151721G>A	ClinGen:CA382518811	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3403-1G>T	472	ATM	Likely pathogenic	-1	RCV003044288;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151721	108151721	NC_000011.9:g.108151721G>T	-
NM_000051.3(ATM):c.3403-?_*(1_?)del	472	ATM	Pathogenic	-1	RCV000204339;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151722	108236236		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108280995)_(108289801_?)del	472	ATM	Pathogenic	-1	RCV000458568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151722	108160528		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3404C>A (p.Ser1135Tyr)	472	ATM	Uncertain significance	2082202102	RCV001184104\|RCV002559052;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151723	108151723	11:g.108151723C>A	-
NM_000051.4(ATM):c.3405C>T (p.Ser1135=)	472	ATM	Likely benign	746829748	RCV001020221\|RCV001504084;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151724	108151724	11:g.108151724C>T	-
NM_000051.4(ATM):c.3407A>G (p.His1136Arg)	472	ATM	Uncertain significance	768490475	RCV000166838\|RCV000484749\|RCV000555897\|RCV001193009;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108151726	108151726	11:g.108151726A>G	ClinGen:CA196840	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3408T>G (p.His1136Gln)	472	ATM	Uncertain significance	1565441369	RCV000695335\|RCV002458254;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151727	108151727	11:g.108151727T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3411T>C (p.Ser1137=)	472	ATM	Likely benign	369518512	RCV000163562\|RCV000432605\|RCV000463330;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151730	108151730	11:g.108151730T>C	ClinGen:CA188627	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3413C>G (p.Ala1138Gly)	472	ATM	Uncertain significance	1565441399	RCV000773695\|RCV001192850\|RCV001317719;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151732	108151732	NC_000011.9:g.108151732C>G	-
NM_000051.4(ATM):c.3413C>T (p.Ala1138Val)	472	ATM	Uncertain significance	-1	RCV003010325\|RCV003170865;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151732	108151732	NC_000011.9:g.108151732C>T	-
NM_000051.4(ATM):c.3415G>C (p.Glu1139Gln)	472	ATM	Uncertain significance	786203048	RCV000166182\|RCV001070498\|RCV001762384;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151734	108151734	11:g.108151734G>C	ClinGen:CA195191	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3415G>A (p.Glu1139Lys)	472	ATM	Uncertain significance	786203048	RCV000206389\|RCV002327061\|RCV003468938;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151734	108151734	11:g.108151734G>A	ClinGen:CA350432	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3417G>A (p.Glu1139=)	472	ATM	Likely benign	879254069	RCV000236164\|RCV000574519\|RCV001482856;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151736	108151736	11:g.108151736G>A	ClinGen:CA10584336	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3417G>C (p.Glu1139Asp)	472	ATM	Uncertain significance	879254069	RCV001372223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151736	108151736	108151736	-
NM_000051.4(ATM):c.3420C>T (p.Asn1140=)	472	ATM	Likely benign	1329688204	RCV000587005\|RCV001461435;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151739	108151739	NC_000011.9:g.108151739C>T	ClinGen:CA476672788	CN517202 not provided;
NM_000051.4(ATM):c.3422del (p.Pro1141fs)	472	ATM	Pathogenic	-1	RCV002863817;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151739	108151739	NC_000011.9:g.108151741del	-
NM_000051.4(ATM):c.3424G>A (p.Glu1142Lys)	472	ATM	Uncertain significance	2082203589	RCV001040711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151743	108151743	11:g.108151743G>A	-
NM_000051.4(ATM):c.3425A>C (p.Glu1142Ala)	472	ATM	Uncertain significance	2082203682	RCV001247182\|RCV001525343;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151744	108151744	11:g.108151744A>C	-
NM_000051.4(ATM):c.3427A>T (p.Thr1143Ser)	472	ATM	Uncertain significance	1555091146	RCV000532092\|RCV001020272;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151746	108151746	11:g.108151746A>T	ClinGen:CA382519076	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3428C>T (p.Thr1143Ile)	472	ATM	Uncertain significance	748375410	RCV001364670\|RCV002456563;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151747	108151747	108151747	-
NM_000051.4(ATM):c.3429T>G (p.Thr1143=)	472	ATM	Likely benign	-1	RCV002337443\|RCV003102374;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151748	108151748		-
NM_000051.4(ATM):c.3430T>C (p.Leu1144=)	472	ATM	Likely benign	2135665912	RCV001399032;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151749	108151749	108151749	-
NM_000051.4(ATM):c.3431T>C (p.Leu1144Ser)	472	ATM	Uncertain significance	879253949	RCV000235801\|RCV001047884\|RCV001178636;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151750	108151750	11:g.108151750T>C	ClinGen:CA10584337	CN169374 not specified;
NM_000051.4(ATM):c.3432G>A (p.Leu1144=)	472	ATM	Conflicting interpretations of pathogenicity	1060501625	RCV000476703\|RCV001177305\|RCV002222514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108151751	108151751	NC_000011.9:g.108151751G>A	ClinGen:CA16613036	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3433G>T (p.Asp1145Tyr)	472	ATM	Uncertain significance	-1	RCV002851243;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151752	108151752	NC_000011.9:g.108151752G>T	-
NM_000051.4(ATM):c.3434dup (p.Asp1145fs)	472	ATM	Pathogenic	-1	RCV003057740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151752	108151753	NC_000011.9:g.108151753dup	-
NM_000051.4(ATM):c.3434A>G (p.Asp1145Gly)	472	ATM	Uncertain significance	1183646267	RCV001325022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151753	108151753	108151753	-
NM_000051.4(ATM):c.3434A>T (p.Asp1145Val)	472	ATM	Uncertain significance	1183646267	RCV001367213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151753	108151753	108151753	-
NM_000051.4(ATM):c.3435_3436delinsA (p.Asp1145fs)	472	ATM	Pathogenic/Likely pathogenic	886039632	RCV000255952\|RCV001190940\|RCV002500961;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151754	108151755	11:g.108151755_108151755del	ClinGen:CA10588495	CN517202 not provided;
NM_000051.4(ATM):c.3435del (p.Asp1145fs)	472	ATM	Pathogenic/Likely pathogenic	1591636349	RCV000988677\|RCV001020302\|RCV002497280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151754	108151754	11:g.108151754_108151754del	-
NM_000051.4(ATM):c.3435T>C (p.Asp1145=)	472	ATM	Likely benign	2082204446	RCV002211466\|RCV002454388;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151754	108151754	108151754	-
NM_000051.4(ATM):c.3436G>T (p.Glu1146Ter)	472	ATM	Pathogenic	1565441511	RCV000701367\|RCV002458287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151755	108151755	11:g.108151755G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3436G>A (p.Glu1146Lys)	472	ATM	Uncertain significance	1565441511	RCV001020305\|RCV001860980;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151755	108151755	11:g.108151755G>A	-
NM_000051.4(ATM):c.3437A>G (p.Glu1146Gly)	472	ATM	Uncertain significance	1555091169	RCV000571970\|RCV000685630;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151756	108151756	11:g.108151756A>G	ClinGen:CA382519179	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3439A>G (p.Ile1147Val)	472	ATM	Uncertain significance	769853739	RCV000219347\|RCV000557243\|RCV001575307;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151758	108151758	11:g.108151758A>G	ClinGen:CA6265293	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3442del (p.Tyr1148fs)	472	ATM	Pathogenic	2135666319	RCV001981654;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151759	108151759	108151758	-
NM_000051.4(ATM):c.3443A>G (p.Tyr1148Cys)	472	ATM	Uncertain significance	773169285	RCV001070847\|RCV001526060;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151762	108151762	11:g.108151762A>G	-
NM_000051.4(ATM):c.3444T>C (p.Tyr1148=)	472	ATM	Likely benign	1591636407	RCV001020321\|RCV001487398;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151763	108151763	11:g.108151763T>C	-
NM_000051.4(ATM):c.3445A>G (p.Asn1149Asp)	472	ATM	Uncertain significance	-1	RCV002633449;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151764	108151764	NC_000011.9:g.108151764A>G	-
NM_000051.4(ATM):c.3446A>G (p.Asn1149Ser)	472	ATM	Uncertain significance	1414846775	RCV000537957\|RCV001020322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151765	108151765	11:g.108151765A>G	ClinGen:CA382519265	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3447T>C (p.Asn1149=)	472	ATM	Conflicting interpretations of pathogenicity	763473729	RCV000165081\|RCV001248472\|RCV001704200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151766	108151766	11:g.108151766T>C	ClinGen:CA192470	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3447del (p.Asn1149fs)	472	ATM	Pathogenic	2135666442	RCV001982878;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151766	108151766	108151765	-
NM_000051.4(ATM):c.3447T>G (p.Asn1149Lys)	472	ATM	Uncertain significance	-1	RCV003043104;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151766	108151766	NC_000011.9:g.108151766T>G	-
NM_000051.4(ATM):c.3448A>T (p.Arg1150Ter)	472	ATM	Pathogenic	786201209	RCV001905709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151767	108151767	108151767	-
NM_000051.4(ATM):c.3449G>C (p.Arg1150Thr)	472	ATM	Conflicting interpretations of pathogenicity	555219189	RCV000115177\|RCV000199179\|RCV000215488\|RCV001818259\|RCV003338413;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151768	108151768	NC_000011.9:g.108151768G>C	ClinGen:CA286809	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3449G>A (p.Arg1150Lys)	472	ATM	Uncertain significance	555219189	RCV001987836;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151768	108151768	108151768	-
NM_000051.4(ATM):c.3453dup (p.Ser1152fs)	472	ATM	Pathogenic	2135666539	RCV002035248\|RCV002458879;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151768	108151769	108151768	-
NM_000051.4(ATM):c.3450_3454del (p.Arg1150fs)	472	ATM	Pathogenic	1060501676	RCV000476323\|RCV000570631\|RCV003233640;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108151769	108151773	NC_000011.9:g.108151769_108151773del	ClinGen:CA16613131	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3450A>G (p.Arg1150=)	472	ATM	Likely benign	2135666527	RCV002149990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151769	108151769	108151769	-
NM_000051.4(ATM):c.3451A>C (p.Lys1151Gln)	472	ATM	Uncertain significance	-1	RCV002301090;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151770	108151770	108151770	-
NM_000051.4(ATM):c.3453A>G (p.Lys1151=)	472	ATM	Likely benign	977448999	RCV001186540\|RCV002559107;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151772	108151772	11:g.108151772A>G	-
NM_000051.4(ATM):c.3454T>G (p.Ser1152Ala)	472	ATM	Uncertain significance	1176188506	RCV000627995;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151773	108151773	11:g.108151773T>G	ClinGen:CA382519358	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3455_3456del (p.Ser1152fs)	472	ATM	Pathogenic/Likely pathogenic	2135666711	RCV001380473\|RCV003469650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151773	108151774	108151772	-
NM_000051.4(ATM):c.3454T>C (p.Ser1152Pro)	472	ATM	Uncertain significance	1176188506	RCV002043427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151773	108151773	108151773	-
NM_000051.4(ATM):c.3455C>A (p.Ser1152Tyr)	472	ATM	Uncertain significance	775045299	RCV001020343\|RCV001832349;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151774	108151774	11:g.108151774C>A	-
NM_000051.4(ATM):c.3455C>G (p.Ser1152Cys)	472	ATM	Uncertain significance	775045299	RCV002027490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151774	108151774	108151774	-
NM_000051.4(ATM):c.3457G>C (p.Val1153Leu)	472	ATM	Uncertain significance	863224562	RCV000195556;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151776	108151776	NC_000011.9:g.108151776G>C	ClinGen:CA335757	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3457G>T (p.Val1153Phe)	472	ATM	Uncertain significance	863224562	RCV001040682;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151776	108151776	11:g.108151776G>T	-
NM_000051.4(ATM):c.3457G>A (p.Val1153Ile)	472	ATM	Uncertain significance	863224562	RCV001304089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151776	108151776	108151776	-
NM_000051.4(ATM):c.3458T>C (p.Val1153Ala)	472	ATM	Uncertain significance	12788418	RCV001323285;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151777	108151777	108151777	-
NM_000051.4(ATM):c.3460T>C (p.Leu1154=)	472	ATM	Likely benign	1591636498	RCV001460075\|RCV002460122;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151779	108151779	11:g.108151779T>C	-
NM_000051.4(ATM):c.3461T>C (p.Leu1154Ser)	472	ATM	Uncertain significance	2135666960	RCV001368716\|RCV002456573;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151780	108151780	108151780	-
NM_000051.4(ATM):c.3461T>A (p.Leu1154Ter)	472	ATM	Pathogenic	2135666960	RCV001387685;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151780	108151780	108151780	-
NM_000051.4(ATM):c.3463C>T (p.Leu1155=)	472	ATM	Likely benign	1555091217	RCV000610125\|RCV001506195\|RCV002460096;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151782	108151782	11:g.108151782C>T	ClinGen:CA476672828	CN169374 not specified;
NM_000051.4(ATM):c.3467C>T (p.Thr1156Met)	472	ATM	Conflicting interpretations of pathogenicity	759951393	RCV000162792\|RCV000167875\|RCV000478106\|RCV001354530\|RCV003398832;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|	11	108151786	108151786	11:g.108151786C>T	ClinGen:CA186974	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3468G>A (p.Thr1156=)	472	ATM	Likely benign	148358896	RCV000162776\|RCV000198955\|RCV000419306\|RCV001721028;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108151787	108151787	11:g.108151787G>A	ClinGen:CA186944	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3468G>T (p.Thr1156=)	472	ATM	Likely benign	-1	RCV002337493\|RCV003099504;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151787	108151787		-
NM_000051.4(ATM):c.3469T>G (p.Leu1157Val)	472	ATM	Uncertain significance	2082206791	RCV001205259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151788	108151788	11:g.108151788T>G	-
NM_000051.4(ATM):c.3470T>C (p.Leu1157Ser)	472	ATM	Uncertain significance	2135667225	RCV001940810\|RCV003464257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151789	108151789	108151789	-
NM_000051.4(ATM):c.3470T>A (p.Leu1157Ter)	472	ATM	Pathogenic	-1	RCV002646903\|RCV003289586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151789	108151789	NC_000011.9:g.108151789T>A	-
NM_000051.4(ATM):c.3471G>A (p.Leu1157=)	472	ATM	Likely benign	878853504	RCV000232523\|RCV000565530\|RCV001711621;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108151790	108151790	NC_000011.9:g.108151790G>A	ClinGen:CA10582810	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3472A>T (p.Ile1158Leu)	472	ATM	Uncertain significance	-1	RCV003040862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151791	108151791	NC_000011.9:g.108151791A>T	-
NM_000051.4(ATM):c.3473T>C (p.Ile1158Thr)	472	ATM	Uncertain significance	1060501588	RCV000464582\|RCV000566960;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151792	108151792	NC_000011.9:g.108151792T>C	ClinGen:CA16613039	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3480_3492dup (p.Ser1165delinsGlyPheIleLeuTer)	472	ATM	Pathogenic	1555091238	RCV000546048\|RCV001823732\|RCV002341232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151794	108151795	11:g.108151794_108151795insCTGTGGTTTTATC	ClinGen:CA658656206	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3475G>T (p.Ala1159Ser)	472	ATM	Uncertain significance	2135667356	RCV001923606;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151794	108151794	108151794	-
NM_000051.4(ATM):c.3478G>C (p.Val1160Leu)	472	ATM	Conflicting interpretations of pathogenicity	567344545	RCV000218210\|RCV000221290\|RCV000474968\|RCV000780901\|RCV002288862;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151797	108151797	11:g.108151797G>C	ClinGen:CA6265298	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3478G>A (p.Val1160Met)	472	ATM	Uncertain significance	-1	RCV002457339\|RCV003120901;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151797	108151797	108151797	-
NM_000051.4(ATM):c.3479T>G (p.Val1160Gly)	472	ATM	Uncertain significance	12788427	RCV001351882;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151798	108151798	108151798	-
NM_000051.4(ATM):c.3480G>T (p.Val1160=)	472	ATM	Conflicting interpretations of pathogenicity	1001303564	RCV000436361\|RCV000628258\|RCV002450979;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151799	108151799	11:g.108151799G>T	ClinGen:CA16606807	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3480G>A (p.Val1160=)	472	ATM	Likely benign	1001303564	RCV001398987;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151799	108151799	108151799	-
NM_000051.4(ATM):c.3481G>A (p.Val1161Ile)	472	ATM	Uncertain significance	1565441792	RCV000701094;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151800	108151800	NC_000011.9:g.108151800G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3481G>C (p.Val1161Leu)	472	ATM	Uncertain significance	1565441792	RCV002017188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151800	108151800	108151800	-
NM_000051.4(ATM):c.3482T>C (p.Val1161Ala)	472	ATM	Uncertain significance	12788429	RCV001020409\|RCV001873332;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151801	108151801	11:g.108151801T>C	-
NM_000051.4(ATM):c.3485del (p.Leu1162fs)	472	ATM	Pathogenic/Likely pathogenic	2082207948	RCV001237415\|RCV002255637;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151801	108151801	11:g.108151801_108151801del	-
NM_000051.4(ATM):c.3485T>G (p.Leu1162Ter)	472	ATM	Pathogenic	1591636613	RCV000988678\|RCV001020416\|RCV003467550;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151804	108151804	11:g.108151804T>G	-
NM_000051.4(ATM):c.3489dup (p.Cys1164fs)	472	ATM	Pathogenic	2082208208	RCV001044598;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151806	108151807	11:g.108151806_108151807insC	-
NM_000051.4(ATM):c.3488C>A (p.Ser1163Tyr)	472	ATM	Conflicting interpretations of pathogenicity	372766122	RCV000558586\|RCV002341233\|RCV003470667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151807	108151807	11:g.108151807C>A	ClinGen:CA6265299	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3489C>T (p.Ser1163=)	472	ATM	Likely benign	864622097	RCV000206758\|RCV001020424\|RCV003321543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108151808	108151808	NC_000011.9:g.108151808C>T	ClinGen:CA350763	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3490T>G (p.Cys1164Gly)	472	ATM	Uncertain significance	2135667927	RCV001969255;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151809	108151809	108151809	-
NM_000051.4(ATM):c.3491G>A (p.Cys1164Tyr)	472	ATM	Uncertain significance	2082208412	RCV001065056;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151810	108151810	11:g.108151810G>A	-
NM_000051.4(ATM):c.3493A>T (p.Ser1165Cys)	472	ATM	Uncertain significance	1351059730	RCV000692803\|RCV002458237;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151812	108151812	11:g.108151812A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3493A>G (p.Ser1165Gly)	472	ATM	Uncertain significance	1351059730	RCV000776423\|RCV001070171\|RCV003148861;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151812	108151812	NC_000011.9:g.108151812A>G	-
NM_000051.4(ATM):c.3494G>T (p.Ser1165Ile)	472	ATM	Uncertain significance	2082208653	RCV001221031\|RCV002451510;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151813	108151813	11:g.108151813G>T	-
NM_000051.4(ATM):c.3494G>A (p.Ser1165Asn)	472	ATM	Uncertain significance	-1	RCV003072850;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151813	108151813	NC_000011.9:g.108151813G>A	-
NM_000051.4(ATM):c.3495C>A (p.Ser1165Arg)	472	ATM	Uncertain significance	878853505	RCV000226090\|RCV000584554;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151814	108151814	NC_000011.9:g.108151814C>A	ClinGen:CA10582811	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3495C>T (p.Ser1165=)	472	ATM	Likely benign	878853505	RCV000582400\|RCV001430256;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151814	108151814	NC_000011.9:g.108151814C>T	ClinGen:CA476672885	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3498T>C (p.Pro1166=)	472	ATM	Likely benign	1555091273	RCV000609876\|RCV001020448\|RCV001414620;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151817	108151817	11:g.108151817T>C	ClinGen:CA476672891	CN169374 not specified;
NM_000051.4(ATM):c.3499A>G (p.Ile1167Val)	472	ATM	Conflicting interpretations of pathogenicity	1222634243	RCV000627846\|RCV000776375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151818	108151818	11:g.108151818A>G	ClinGen:CA382519746	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3501C>T (p.Ile1167=)	472	ATM	Likely benign	1555091279	RCV000533696\|RCV000776854;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151820	108151820	11:g.108151820C>T	ClinGen:CA476672900	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3502T>C (p.Cys1168Arg)	472	ATM	Uncertain significance	749933079	RCV000219437\|RCV000550846\|RCV003156235;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151821	108151821	11:g.108151821T>C	ClinGen:CA6265300	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3503dup (p.Cys1168fs)	472	ATM	Pathogenic/Likely pathogenic	2082209411	RCV001250183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151821	108151822	11:g.108151821_108151822insG	-
NM_000051.4(ATM):c.3504C>T (p.Cys1168=)	472	ATM	Likely benign	876658368	RCV000230054\|RCV000223130\|RCV001722176\|RCV003321548;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108151823	108151823	11:g.108151823C>T	ClinGen:CA10579107	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3505G>A (p.Glu1169Lys)	472	ATM	Uncertain significance	200765255	RCV000166372\|RCV000204598\|RCV000413647;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151824	108151824	11:g.108151824G>A	ClinGen:CA195682	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3510dup (p.Gln1171fs)	472	ATM	Pathogenic/Likely pathogenic	876658899	RCV000222552\|RCV000462687\|RCV002259324\|RCV002500728\|RCV003469020;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108151824	108151825	11:g.108151824_108151825insA	ClinGen:CA10579108	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3507A>G (p.Glu1169=)	472	ATM	Likely benign	1555091291	RCV000568705\|RCV003117338;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151826	108151826	NC_000011.9:g.108151826A>G	ClinGen:CA476672909	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3507A>T (p.Glu1169Asp)	472	ATM	Uncertain significance	1555091291	RCV001897634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151826	108151826	108151826	-
NM_000051.4(ATM):c.3511_3512dup (p.Gln1171fs)	472	ATM	Pathogenic	1555091302	RCV000535019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151828	108151829	11:g.108151828_108151829insAC	ClinGen:CA658656210	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3509A>C (p.Lys1170Thr)	472	ATM	Uncertain significance	1591636761	RCV000805223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151828	108151828	11:g.108151828A>C	-
NM_000051.4(ATM):c.3509A>T (p.Lys1170Ile)	472	ATM	Uncertain significance	-1	RCV002299546;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151828	108151828	108151828	-
NM_000051.4(ATM):c.3511C>T (p.Gln1171Ter)	472	ATM	Pathogenic	876659067	RCV000213580\|RCV000802075\|RCV003155932;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151830	108151830	11:g.108151830C>T	ClinGen:CA10579109	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3511C>G (p.Gln1171Glu)	472	ATM	Uncertain significance	876659067	RCV001304654\|RCV001664815;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108151830	108151830	108151830	-
NM_000051.4(ATM):c.3513G>T (p.Gln1171His)	472	ATM	Uncertain significance	757201878	RCV000689081\|RCV003321716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108151832	108151832	11:g.108151832G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3513G>C (p.Gln1171His)	472	ATM	Uncertain significance	757201878	RCV001246322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151832	108151832	11:g.108151832G>C	-
NM_000051.4(ATM):c.3513G>A (p.Gln1171=)	472	ATM	Likely benign	757201878	RCV001439617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151832	108151832	108151832	-
NM_000051.4(ATM):c.3514G>C (p.Ala1172Pro)	472	ATM	Uncertain significance	779946941	RCV000566480\|RCV000701810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151833	108151833	11:g.108151833G>C	ClinGen:CA6265301	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3515C>T (p.Ala1172Val)	472	ATM	Uncertain significance	2082210652	RCV001218675\|RCV003469372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151834	108151834	11:g.108151834C>T	-
NM_000051.4(ATM):c.3520_3523del (p.Phe1174fs)	472	ATM	Pathogenic	1394502687	RCV000697452\|RCV003460950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151835	108151838	11:g.108151835_108151838del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3517T>C (p.Leu1173=)	472	ATM	Benign/Likely benign	141460670	RCV000123742\|RCV000198270\|RCV000212000\|RCV001082779\|RCV001356417\|RCV001798414\|RCV003315836;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108151836	108151836	NC_000011.9:g.108151836T>C	ClinGen:CA289561	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3517T>G (p.Leu1173Val)	472	ATM	Uncertain significance	141460670	RCV000702641;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151836	108151836	11:g.108151836T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3519G>C (p.Leu1173Phe)	472	ATM	Uncertain significance	1565442034	RCV000706815\|RCV001020501\|RCV003321724;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108151838	108151838	NC_000011.9:g.108151838G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3519G>T (p.Leu1173Phe)	472	ATM	Uncertain significance	1565442034	RCV001864591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151838	108151838	108151838	-
NM_000051.4(ATM):c.3520T>G (p.Phe1174Val)	472	ATM	Uncertain significance	547400704	RCV000571513\|RCV001201500;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151839	108151839	NC_000011.9:g.108151839T>G	ClinGen:CA6265303	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3521T>C (p.Phe1174Ser)	472	ATM	Uncertain significance	1416574870	RCV000569533\|RCV001066179;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151840	108151840	NC_000011.9:g.108151840T>C	ClinGen:CA382520044	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3521T>A (p.Phe1174Tyr)	472	ATM	Uncertain significance	1416574870	RCV001901973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151840	108151840	108151840	-
NM_000051.4(ATM):c.3522T>C (p.Phe1174=)	472	ATM	Likely benign	-1	RCV002459340\|RCV003102390;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151841	108151841		-
NM_000051.4(ATM):c.3523del (p.Ala1175fs)	472	ATM	Pathogenic	2135669053	RCV001383521;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151842	108151842	108151841	-
NM_000051.4(ATM):c.3526del (p.Leu1176fs)	472	ATM	Pathogenic	730881302	RCV000159631\|RCV000801435\|RCV001020524;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151843	108151843	NC_000011.9:g.108151845del	ClinGen:CA298016	CN517202 not provided;
NM_000051.4(ATM):c.3525C>T (p.Ala1175=)	472	ATM	Likely benign	-1	RCV002880375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151844	108151844		-
NM_000051.4(ATM):c.3526C>G (p.Leu1176Val)	472	ATM	Uncertain significance	1462728109	RCV001063650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151845	108151845	11:g.108151845C>G	-
NM_000051.4(ATM):c.3527del (p.Leu1176fs)	472	ATM	Pathogenic	2135669236	RCV001384108;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151846	108151846	108151845	-
NM_000051.4(ATM):c.3527T>C (p.Leu1176Pro)	472	ATM	Uncertain significance	587782762	RCV002024929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151846	108151846	108151846	-
NM_000051.4(ATM):c.3528G>T (p.Leu1176=)	472	ATM	Likely benign	748335454	RCV000165974\|RCV000628308;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151847	108151847	11:g.108151847G>T	ClinGen:CA194684	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3530G>C (p.Cys1177Ser)	472	ATM	Uncertain significance	587782470	RCV000131572\|RCV000198090\|RCV000485057\|RCV003467177;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151849	108151849	11:g.108151849G>C	ClinGen:CA168379	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3531T>C (p.Cys1177=)	472	ATM	Likely benign	876659546	RCV000220681\|RCV001473959;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151850	108151850	11:g.108151850T>C	ClinGen:CA10579110	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3532A>G (p.Lys1178Glu)	472	ATM	Uncertain significance	1555091359	RCV000570732\|RCV000628013\|RCV001755928;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151851	108151851	11:g.108151851A>G	ClinGen:CA382520195	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3532A>C (p.Lys1178Gln)	472	ATM	Uncertain significance	1555091359	RCV001020543\|RCV001059744;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151851	108151851	11:g.108151851A>C	-
NM_000051.4(ATM):c.3533A>G (p.Lys1178Arg)	472	ATM	Uncertain significance	1565442144	RCV001207132;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151852	108151852	11:g.108151852A>G	-
NM_000051.4(ATM):c.3535T>C (p.Ser1179Pro)	472	ATM	Uncertain significance	2135669484	RCV001989051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151854	108151854	108151854	-
NM_000051.4(ATM):c.3539_3540del (p.Val1180fs)	472	ATM	Pathogenic	1555091367	RCV000560955\|RCV000698550;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151856	108151857	11:g.108151856_108151857del	ClinGen:CA658656213	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3538G>A (p.Val1180Met)	472	ATM	Uncertain significance	1060501531	RCV000459989\|RCV001805067;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151857	108151857	NC_000011.9:g.108151857G>A	ClinGen:CA16613407	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3538del (p.Ser1179_Val1180insTer)	472	ATM	Pathogenic	1555091370	RCV000565042\|RCV001044701;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151857	108151857	NC_000011.9:g.108151857del	ClinGen:CA658656214	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3541A>T (p.Lys1181Ter)	472	ATM	Pathogenic/Likely pathogenic	1057516981	RCV000412416\|RCV000582272\|RCV003470342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151860	108151860	11:g.108151860A>T	ClinGen:CA16041401	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3541A>G (p.Lys1181Glu)	472	ATM	Uncertain significance	-1	RCV002796550;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151860	108151860	NC_000011.9:g.108151860A>G	-
NM_000051.4(ATM):c.3543A>G (p.Lys1181=)	472	ATM	Conflicting interpretations of pathogenicity	1555091382	RCV000547657\|RCV000583706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151862	108151862	NC_000011.9:g.108151862A>G	ClinGen:CA476672956	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3546_3547del (p.Asn1183fs)	472	ATM	Pathogenic	768356403	RCV001388015\|RCV002341831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151862	108151863	108151861	-
NM_000051.4(ATM):c.3544G>C (p.Glu1182Gln)	472	ATM	Uncertain significance	377349886	RCV000457570\|RCV000483144\|RCV000565948\|RCV001797724\|RCV003401469\|RCV003470423;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151863	108151863	NC_000011.9:g.108151863G>C	ClinGen:CA6265306	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3547A>G (p.Asn1183Asp)	472	ATM	Uncertain significance	773290999	RCV001966885\|RCV002458912;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151866	108151866	108151866	-
NM_000051.4(ATM):c.3549T>C (p.Asn1183=)	472	ATM	Likely benign	767377764	RCV000223274\|RCV000988679\|RCV001356087;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151868	108151868	11:g.108151868T>C	ClinGen:CA10579111	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3550G>T (p.Gly1184Ter)	472	ATM	Pathogenic	1555091402	RCV001951250;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151869	108151869	108151869	-
NM_000051.4(ATM):c.3551G>A (p.Gly1184Glu)	472	ATM	Uncertain significance	2135669947	RCV001982870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151870	108151870	108151870	-
NM_000051.4(ATM):c.3557A>T (p.Glu1186Val)	472	ATM	Uncertain significance	2082213706	RCV001224513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151876	108151876	11:g.108151876A>T	-
NM_000051.4(ATM):c.3558A>C (p.Glu1186Asp)	472	ATM	Uncertain significance	12786957	RCV000222587\|RCV000482747\|RCV000706589\|RCV002307448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108151877	108151877	11:g.108151877A>C	ClinGen:CA10579112	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3558A>T (p.Glu1186Asp)	472	ATM	Uncertain significance	12786957	RCV000572499\|RCV001312792;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151877	108151877	NC_000011.9:g.108151877A>T	ClinGen:CA382520555	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3558A>G (p.Glu1186=)	472	ATM	Likely benign	12786957	RCV001467416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151877	108151877	108151877	-
NM_000051.4(ATM):c.3559C>T (p.Pro1187Ser)	472	ATM	Uncertain significance	2082213794	RCV001182059\|RCV001238041;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151878	108151878	11:g.108151878C>T	-
NM_000051.4(ATM):c.3562C>T (p.His1188Tyr)	472	ATM	Uncertain significance	2082213882	RCV001343059;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151881	108151881	108151881	-
NM_000051.4(ATM):c.3563A>C (p.His1188Pro)	472	ATM	Uncertain significance	12786960	RCV000581044\|RCV001059090;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151882	108151882	NC_000011.9:g.108151882A>C	ClinGen:CA6265308	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3565C>T (p.Leu1189Phe)	472	ATM	Uncertain significance	370602633	RCV000213841\|RCV000699376\|RCV001753669\|RCV003469056;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151884	108151884	11:g.108151884C>T	ClinGen:CA6265311	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3567del (p.Leu1189_Val1190insTer)	472	ATM	Conflicting interpretations of pathogenicity	1555091431	RCV000658623\|RCV001261520;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151885	108151885	11:g.108151885_108151885del	-	CN517202 not provided;
NM_000051.4(ATM):c.3569T>C (p.Val1190Ala)	472	ATM	Uncertain significance	1060501708	RCV000457822\|RCV001525953\|RCV002481424;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151888	108151888	NC_000011.9:g.108151888T>C	ClinGen:CA16613329	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3570G>A (p.Val1190=)	472	ATM	Likely benign	1347241379	RCV001408072\|RCV002456649;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108151889	108151889	108151889	-
NM_000051.4(ATM):c.3571_3576+1del	472	ATM	Likely pathogenic	2135670424	RCV002026935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151889	108151895	108151888	-
NM_000051.4(ATM):c.3575A>G (p.Lys1192Arg)	472	ATM	Uncertain significance	1555091451	RCV000580687\|RCV001860029;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151894	108151894	NC_000011.9:g.108151894A>G	ClinGen:CA382520789	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3575A>C (p.Lys1192Thr)	472	ATM	Uncertain significance	-1	RCV003033012;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151894	108151894	NC_000011.9:g.108151894A>C	-
NM_000051.4(ATM):c.3576G>A (p.Lys1192=)	472	ATM	Pathogenic/Likely pathogenic	587776551	RCV000003174\|RCV000165646\|RCV000236731\|RCV001797990\|RCV002467434;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108151895	108151895	NC_000011.9:g.108151895G>A	OMIM:607585.0018,ClinGen:CA193897	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3576G>T (p.Lys1192Asn)	472	ATM	Likely pathogenic	587776551	RCV000583698\|RCV001241162;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151895	108151895	NC_000011.9:g.108151895G>T	ClinGen:CA382520816	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3576+1G>T	472	ATM	Likely pathogenic	876660621	RCV000573610\|RCV001858070;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151896	108151896	11:g.108151896G>T	ClinGen:CA382520835	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3576+3A>G	472	ATM	Uncertain significance	2082214908	RCV001055276\|RCV003320799;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108151898	108151898	11:g.108151898A>G	-
NM_000051.4(ATM):c.3576+4T>C	472	ATM	Uncertain significance	1591637164	RCV000799831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151899	108151899	11:g.108151899T>C	-
NM_000051.4(ATM):c.3576+7A>G	472	ATM	Likely benign	761486334	RCV002092595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151902	108151902	108151902	-
NM_000051.4(ATM):c.3576+8T>C	472	ATM	Likely benign	1591637198	RCV001186889\|RCV001431456;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151903	108151903	11:g.108151903T>C	-
NM_000051.4(ATM):c.3576+12_3576+14del	472	ATM	Likely benign	-1	RCV002858477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108151905	108151907	NC_000011.9:g.108151907_108151909del	-
NM_000051.4(ATM):c.3577-30C>T	472	ATM	Benign	751436997	RCV000988680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153407	108153407	11:g.108153407C>T	-
NM_000051.4(ATM):c.3577-20T>G	472	ATM	Likely benign	921452019	RCV001191216\|RCV002069145;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153417	108153417	11:g.108153417T>G	-
NM_000051.4(ATM):c.3577-19G>A	472	ATM	Likely benign	-1	RCV002853136;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153418	108153418	NC_000011.9:g.108153418G>A	-
NM_000051.4(ATM):c.3577-18A>G	472	ATM	Likely benign	2135685737	RCV002216877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153419	108153419	108153419	-
NM_000051.4(ATM):c.3577-17del	472	ATM	Likely benign	-1	RCV003053893;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153420	108153420	NC_000011.9:g.108153420del	-
NM_000051.4(ATM):c.3577-12del	472	ATM	Benign/Likely benign	730881288	RCV000159615\|RCV002053912;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153421	108153421	NC_000011.9:g.108153425del	ClinGen:CA297999	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3577-13_3577-12del	472	ATM	Likely benign	730881288	RCV001472939;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153421	108153422	108153420	-
NM_000051.4(ATM):c.3577-16T>A	472	ATM	Likely benign	-1	RCV003043535;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153421	108153421	NC_000011.9:g.108153421T>A	-
NM_000051.4(ATM):c.3577-14T>C	472	ATM	Likely benign	2082292356	RCV001178456\|RCV002559744;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153423	108153423	11:g.108153423T>C	-
NM_000051.4(ATM):c.3577-13T>C	472	ATM	Conflicting interpretations of pathogenicity	587780856	RCV000123743\|RCV000343406\|RCV000580674\|RCV001795221;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108153424	108153424	NC_000011.9:g.108153424T>C	ClinGen:CA289564	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3577-12T>C	472	ATM	Likely benign	757616718	RCV001191539\|RCV002069158;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153425	108153425	11:g.108153425T>C	-
NM_000051.4(ATM):c.3577-11G>C	472	ATM	Likely benign	2135685988	RCV002210704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153426	108153426	108153426	-
NM_000051.4(ATM):c.3577-9_3583del	472	ATM	Pathogenic	1555092219	RCV000528365\|RCV002460082;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153427	108153442	11:g.108153427_108153442del	ClinGen:CA658656220	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108282700)_(108287725_?)del	472	ATM	Pathogenic	-1	RCV000820599;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153427	108158452		-
NC_000011.9:g.(?_108153427)_(108160538_?)del	472	ATM	Pathogenic	-1	RCV001381598;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153427	108160538	-1	-
NM_000051.4(ATM):c.3577-10G>A	472	ATM	Likely benign	1343046904	RCV001434791;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153427	108153427	108153427	-
NC_000011.9:g.(?_108153427)_(108236235_?)del	472	ATM	Pathogenic	-1	RCV003119162;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153427	108236235		-
NM_000051.4(ATM):c.3577-9T>G	472	ATM	Likely benign	-1	RCV003057738;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153428	108153428	NC_000011.9:g.108153428T>G	-
NM_000051.4(ATM):c.3577-7C>T	472	ATM	Conflicting interpretations of pathogenicity	558667657	RCV000203985\|RCV000429730\|RCV000579566\|RCV001722129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108153430	108153430	11:g.108153430C>T	ClinGen:CA348263	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3577-7C>A	472	ATM	Uncertain significance	558667657	RCV000483974\|RCV002526638;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153430	108153430	11:g.108153430C>A	ClinGen:CA16619161	CN169374 not specified;
NM_000051.4(ATM):c.3577-6G>A	472	ATM	Conflicting interpretations of pathogenicity	56006345	RCV000232908\|RCV000580514\|RCV000588724\|RCV003150987;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108153431	108153431	NC_000011.9:g.108153431G>A	ClinGen:CA6265323	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3577-6G>C	472	ATM	Likely benign	-1	RCV002810772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153431	108153431	NC_000011.9:g.108153431G>C	-
NM_000051.4(ATM):c.3577-5T>C	472	ATM	Conflicting interpretations of pathogenicity	1555092229	RCV000572934\|RCV002528098;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153432	108153432	11:g.108153432T>C	ClinGen:CA658656222	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3577-4G>T	472	ATM	Likely benign	2135686331	RCV001488830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153433	108153433	108153433	-
NM_000051.4(ATM):c.3577-3C>A	472	ATM	Uncertain significance	876659700	RCV000222869\|RCV002519705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153434	108153434	11:g.108153434C>A	ClinGen:CA10579115	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3577-3C>G	472	ATM	Uncertain significance	876659700	RCV002003183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153434	108153434	108153434	-
NM_000051.4(ATM):c.3577-2A>G	472	ATM	Likely pathogenic	887358871	RCV001020646\|RCV001232578\|RCV002469325\|RCV002466603;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	11	108153435	108153435	11:g.108153435A>G	-
NM_000051.4(ATM):c.3577-1G>C	472	ATM	Likely pathogenic	1057517226	RCV000410163\|RCV000708602;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153436	108153436	NC_000011.9:g.108153436G>C	ClinGen:CA16041402	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3577G>A (p.Val1193Ile)	472	ATM	Uncertain significance	779148780	RCV000166645\|RCV000200001\|RCV000515365\|RCV000590430\|RCV001798597\|RCV003390873;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Me	11	108153437	108153437	11:g.108153437G>A	ClinGen:CA196377	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3578T>C (p.Val1193Ala)	472	ATM	Uncertain significance	1591640918	RCV000816985\|RCV001525411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153438	108153438	11:g.108153438T>C	-
NM_000051.4(ATM):c.3579T>G (p.Val1193=)	472	ATM	Likely benign	1555092241	RCV000567791\|RCV001454392;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153439	108153439	11:g.108153439T>G	ClinGen:CA476673192	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3581T>C (p.Leu1194Ser)	472	ATM	Uncertain significance	2082294481	RCV001209870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153441	108153441	11:g.108153441T>C	-
NM_000051.4(ATM):c.3582A>G (p.Leu1194=)	472	ATM	Likely benign	1591640938	RCV001463573;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153442	108153442	11:g.108153442A>G	-
NM_000051.4(ATM):c.3583G>C (p.Glu1195Gln)	472	ATM	Uncertain significance	2135686630	RCV001955468;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153443	108153443	108153443	-
NM_000051.4(ATM):c.3584A>G (p.Glu1195Gly)	472	ATM	Uncertain significance	1167713135	RCV000562436\|RCV000703225;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153444	108153444	11:g.108153444A>G	ClinGen:CA382522484	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3585G>A (p.Glu1195=)	472	ATM	Likely benign	-1	RCV003028312\|RCV003274144;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153445	108153445		-
NM_000051.4(ATM):c.3586A>G (p.Lys1196Glu)	472	ATM	Uncertain significance	2135686751	RCV001976219\|RCV002458919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153446	108153446	108153446	-
NM_000051.4(ATM):c.3587A>T (p.Lys1196Ile)	472	ATM	Uncertain significance	-1	RCV002305127;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153447	108153447	108153447	-
NM_000051.4(ATM):c.3588A>G (p.Lys1196=)	472	ATM	Conflicting interpretations of pathogenicity	376524625	RCV000163406\|RCV000205348\|RCV000779757\|RCV001711328;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108153448	108153448	11:g.108153448A>G	ClinGen:CA188209	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3589G>C (p.Val1197Leu)	472	ATM	Uncertain significance	879254024	RCV000236036\|RCV000540943\|RCV001524114;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153449	108153449	NC_000011.9:g.108153449G>C	ClinGen:CA10584338	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3590T>C (p.Val1197Ala)	472	ATM	Uncertain significance	1555092259	RCV000628052\|RCV001020674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153450	108153450	NC_000011.9:g.108153450T>C	ClinGen:CA382522563	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3592T>C (p.Ser1198Pro)	472	ATM	Uncertain significance	1555092260	RCV000627862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153452	108153452	11:g.108153452T>C	ClinGen:CA382522566	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3593C>T (p.Ser1198Phe)	472	ATM	Uncertain significance	2135686922	RCV001755087\|RCV001868550;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153453	108153453	108153453	-
NM_000051.4(ATM):c.3594T>C (p.Ser1198=)	472	ATM	Likely benign	1555092263	RCV000581543\|RCV000616879\|RCV001468504;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153454	108153454	NC_000011.9:g.108153454T>C	ClinGen:CA476673214	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3596A>G (p.Glu1199Gly)	472	ATM	Uncertain significance	876660855	RCV000214172\|RCV000471935\|RCV001577594\|RCV002485435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108153456	108153456	11:g.108153456A>G	ClinGen:CA10579116	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3596A>C (p.Glu1199Ala)	472	ATM	Uncertain significance	-1	RCV002305173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153456	108153456	108153456	-
NM_000051.4(ATM):c.3597A>G (p.Glu1199=)	472	ATM	Likely benign	2135687051	RCV001447569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153457	108153457	108153457	-
NM_000051.4(ATM):c.3598A>G (p.Thr1200Ala)	472	ATM	Uncertain significance	772741084	RCV001191540\|RCV001863039;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153458	108153458	11:g.108153458A>G	-
NM_000051.4(ATM):c.3603del (p.Phe1201fs)	472	ATM	Pathogenic/Likely pathogenic	1057517129	RCV000410047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153460	108153460	11:g.108153460_108153460del	ClinGen:CA16041403	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3602_3603del (p.Phe1201fs)	472	ATM	Pathogenic	1057517129	RCV000666312\|RCV001020695\|RCV003465450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108153460	108153461	11:g.108153460_108153461del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3600T>C (p.Thr1200=)	472	ATM	Likely benign	-1	RCV002819733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153460	108153460		-
NM_000051.4(ATM):c.3601T>A (p.Phe1201Ile)	472	ATM	Conflicting interpretations of pathogenicity	576884305	RCV000204970\|RCV000567287\|RCV000726329\|RCV002478738\|RCV003462391;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108153461	108153461	11:g.108153461T>A	ClinGen:CA349153	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3601T>G (p.Phe1201Val)	472	ATM	Uncertain significance	576884305	RCV001221715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153461	108153461	11:g.108153461T>G	-
NM_000051.4(ATM):c.3602T>C (p.Phe1201Ser)	472	ATM	Uncertain significance	1565444496	RCV000774254\|RCV000820366;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153462	108153462	NC_000011.9:g.108153462T>C	-
NM_000051.4(ATM):c.3603T>C (p.Phe1201=)	472	ATM	Likely benign	1591641079	RCV001452568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153463	108153463	11:g.108153463T>C	-
NM_000051.4(ATM):c.3604G>C (p.Gly1202Arg)	472	ATM	Uncertain significance	-1	RCV002297443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153464	108153464	108153464	-
NM_000051.4(ATM):c.3605G>T (p.Gly1202Val)	472	ATM	Uncertain significance	1555092285	RCV001229959\|RCV002292618;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108153465	108153465	11:g.108153465G>T	-
NM_000051.4(ATM):c.3606A>G (p.Gly1202=)	472	ATM	Conflicting interpretations of pathogenicity	1189826741	RCV000549029\|RCV002456024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153466	108153466	11:g.108153466A>G	ClinGen:CA476673228	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3606A>C (p.Gly1202=)	472	ATM	Likely benign	1189826741	RCV002195085;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153466	108153466	108153466	-
NM_000051.4(ATM):c.3608A>G (p.Tyr1203Cys)	472	ATM	Uncertain significance	1453849799	RCV000528549\|RCV001020711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153468	108153468	11:g.108153468A>G	ClinGen:CA382522744	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3609del (p.Gly1202_Tyr1203insTer)	472	ATM	Pathogenic	1555092297	RCV000582579\|RCV000815296;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153469	108153469	NC_000011.9:g.108153469del	ClinGen:CA658683109	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3610A>G (p.Arg1204Gly)	472	ATM	Uncertain significance	2135687439	RCV001894461;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153470	108153470	108153470	-
NM_000051.4(ATM):c.3613C>T (p.Arg1205Cys)	472	ATM	Conflicting interpretations of pathogenicity	760928285	RCV000195728\|RCV000479830\|RCV000562379\|RCV001192418;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108153473	108153473	NC_000011.9:g.108153473C>T	ClinGen:CA335899	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3613_3614insTTTATGTTTAGAA (p.Arg1205delinsLeuTyrValTer)	472	ATM	Pathogenic	-1	RCV003008405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153473	108153474	NC_000011.9:g.108153473_108153474insTTTATGTTTAGAA	-
NM_000051.4(ATM):c.3614G>A (p.Arg1205His)	472	ATM	Conflicting interpretations of pathogenicity	769106895	RCV000227875\|RCV000486877\|RCV000569109\|RCV001030527\|RCV001818551;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108153474	108153474	NC_000011.9:g.108153474G>A	ClinGen:CA6265325	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3617dup (p.Leu1206fs)	472	ATM	Pathogenic	2082297073	RCV001233886;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153474	108153475	11:g.108153474_108153475insT	-
NM_000051.4(ATM):c.3617T>C (p.Leu1206Ser)	472	ATM	Uncertain significance	1555092317	RCV000541129\|RCV002456025;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153477	108153477	11:g.108153477T>C	ClinGen:CA382522799	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3617_3620del (p.Arg1205_Leu1206insTer)	472	ATM	Pathogenic	2135687676	RCV001903253;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153477	108153480	108153476	-
NM_000051.4(ATM):c.3618A>G (p.Leu1206=)	472	ATM	Likely benign	786201151	RCV000162777\|RCV000195607\|RCV001697058;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108153478	108153478	11:g.108153478A>G	ClinGen:CA186947	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3618A>C (p.Leu1206Phe)	472	ATM	Uncertain significance	786201151	RCV001977398;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153478	108153478	108153478	-
NM_000051.4(ATM):c.3619G>C (p.Glu1207Gln)	472	ATM	Uncertain significance	772724024	RCV001020738\|RCV001860996;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153479	108153479	11:g.108153479G>C	-
NM_000051.4(ATM):c.3620A>G (p.Glu1207Gly)	472	ATM	Uncertain significance	1555092330	RCV000627854;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153480	108153480	NC_000011.9:g.108153480A>G	ClinGen:CA382522810	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3621A>G (p.Glu1207=)	472	ATM	Likely benign	2135687824	RCV002170124;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153481	108153481	108153481	-
NM_000051.4(ATM):c.3622_3624del (p.Asp1208del)	472	ATM	Uncertain significance	2082297886	RCV001889220;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153482	108153484	108153481	-
NM_000051.4(ATM):c.3623A>G (p.Asp1208Gly)	472	ATM	Uncertain significance	2135687915	RCV001973088;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153483	108153483	108153483	-
NM_000051.4(ATM):c.3624C>G (p.Asp1208Glu)	472	ATM	Uncertain significance	-1	RCV003047971;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153484	108153484	NC_000011.9:g.108153484C>G	-
NM_000051.4(ATM):c.3626_3627del (p.Phe1209fs)	472	ATM	Pathogenic	587782861	RCV000167290\|RCV000235460\|RCV000628123\|RCV001640248\|RCV003468804;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0025318,MONDO:MONDO:0005140,MedGen:C4721610\|MONDO:MONDO:0016419,MedGen:C0346153,OMI	11	108153485	108153486	11:g.108153485_108153486del	ClinGen:CA197933	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3627del (p.Phe1209fs)	472	ATM	Pathogenic	587782861	RCV000132480\|RCV000553763;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153485	108153485	11:g.108153485_108153485del	ClinGen:CA169922	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3625_3626insCTCA (p.Phe1209fs)	472	ATM	Pathogenic	2135688037	RCV001984589;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153485	108153486	108153485	-
NM_000051.4(ATM):c.3626_3628delinsCTCATTAGAGAGTCTCATTAGATTATC (p.Phe1209_Met1210delinsSerHisTer)	472	ATM	Pathogenic	-1	RCV002872024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153486	108153488	NC_000011.9:g.108153486_108153488delinsCTCATTAGAGAGTCTCATTAGATTATC	-
NM_000051.4(ATM):c.3627T>C (p.Phe1209=)	472	ATM	Likely benign	762605020	RCV000206623\|RCV000580853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153487	108153487	11:g.108153487T>C	ClinGen:CA350638	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3628A>G (p.Met1210Val)	472	ATM	Conflicting interpretations of pathogenicity	138212452	RCV000129482\|RCV000529913\|RCV000482081\|RCV001193060\|RCV003467109;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108153488	108153488	11:g.108153488A>G	ClinGen:CA164516	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3628A>C (p.Met1210Leu)	472	ATM	Uncertain significance	-1	RCV003030391;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153488	108153488	NC_000011.9:g.108153488A>C	-
NM_000051.4(ATM):c.3629T>C (p.Met1210Thr)	472	ATM	Uncertain significance	192572042	RCV001240736\|RCV002451586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153489	108153489	11:g.108153489T>C	-
NM_000051.4(ATM):c.3630G>A (p.Met1210Ile)	472	ATM	Conflicting interpretations of pathogenicity	587778073	RCV000120134\|RCV000131218\|RCV000476722\|RCV000657063;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108153490	108153490	11:g.108153490G>A	ClinGen:CA157107	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3631G>A (p.Ala1211Thr)	472	ATM	Uncertain significance	745467552	RCV000700585\|RCV003362907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153491	108153491	11:g.108153491G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3632C>T (p.Ala1211Val)	472	ATM	Uncertain significance	-1	RCV003017897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153492	108153492	NC_000011.9:g.108153492C>T	-
NM_000051.4(ATM):c.3633A>G (p.Ala1211=)	472	ATM	Likely benign	2135688329	RCV002207142\|RCV003303739;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153493	108153493	108153493	-
NM_000051.4(ATM):c.3636T>C (p.Ser1212=)	472	ATM	Likely benign	2135688431	RCV001406195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153496	108153496	108153496	-
NM_000051.4(ATM):c.3639T>C (p.His1213=)	472	ATM	Likely benign	142766756	RCV000229312\|RCV000563175\|RCV000607115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108153499	108153499	11:g.108153499T>C	ClinGen:CA6265330	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3639T>G (p.His1213Gln)	472	ATM	Uncertain significance	142766756	RCV000584008\|RCV000628203;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153499	108153499	NC_000011.9:g.108153499T>G	ClinGen:CA382522909	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3640T>G (p.Leu1214Val)	472	ATM	Uncertain significance	2082299514	RCV001327416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153500	108153500	108153500	-
NM_000051.4(ATM):c.3643G>C (p.Asp1215His)	472	ATM	Uncertain significance	1366216756	RCV001020784\|RCV001342271;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153503	108153503	11:g.108153503G>C	-
NM_000051.4(ATM):c.3645T>A (p.Asp1215Glu)	472	ATM	Uncertain significance	1364817146	RCV001879343;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153505	108153505	108153505	-
NM_000051.4(ATM):c.3646T>G (p.Tyr1216Asp)	472	ATM	Uncertain significance	-1	RCV002996568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153506	108153506	NC_000011.9:g.108153506T>G	-
NM_000051.4(ATM):c.3647A>G (p.Tyr1216Cys)	472	ATM	Uncertain significance	1565444784	RCV000772458\|RCV001850963;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153507	108153507	NC_000011.9:g.108153507A>G	-
NM_000051.4(ATM):c.3648del (p.Leu1217fs)	472	ATM	Pathogenic	2135688794	RCV002035457;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153508	108153508	108153507	-
NM_000051.4(ATM):c.3650T>A (p.Leu1217Gln)	472	ATM	Uncertain significance	1555092405	RCV000580287\|RCV002298695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153510	108153510	NC_000011.9:g.108153510T>A	ClinGen:CA382522967	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3650T>C (p.Leu1217Pro)	472	ATM	Uncertain significance	1555092405	RCV001949094\|RCV002458851;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153510	108153510	108153510	-
NM_000051.4(ATM):c.3651G>C (p.Leu1217=)	472	ATM	Likely benign	-1	RCV002996674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153511	108153511		-
NM_000051.4(ATM):c.3652G>T (p.Val1218Phe)	472	ATM	Uncertain significance	2082300484	RCV001345679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153512	108153512	108153512	-
NM_000051.4(ATM):c.3654T>A (p.Val1218=)	472	ATM	Likely benign	2135688939	RCV002077118;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153514	108153514	108153514	-
NM_000051.4(ATM):c.3657G>C (p.Leu1219Phe)	472	ATM	Uncertain significance	901820882	RCV001309665;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153517	108153517	108153517	-
NM_000051.4(ATM):c.3658G>C (p.Glu1220Gln)	472	ATM	Uncertain significance	1565444811	RCV000698417\|RCV001766517\|RCV002343501;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153518	108153518	11:g.108153518G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3658G>A (p.Glu1220Lys)	472	ATM	Uncertain significance	1565444811	RCV001184682\|RCV001337178;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153518	108153518	11:g.108153518G>A	-
NM_000051.4(ATM):c.3659A>G (p.Glu1220Gly)	472	ATM	Uncertain significance	-1	RCV003046270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153519	108153519	NC_000011.9:g.108153519A>G	-
NM_000051.4(ATM):c.3660A>G (p.Glu1220=)	472	ATM	Likely benign	876660835	RCV000222349\|RCV000628270;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153520	108153520	11:g.108153520A>G	ClinGen:CA10579118	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3661T>C (p.Trp1221Arg)	472	ATM	Uncertain significance	1565444832	RCV001235607\|RCV002451567;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153521	108153521	11:g.108153521T>C	-
NM_000051.4(ATM):c.3662G>C (p.Trp1221Ser)	472	ATM	Uncertain significance	-1	RCV003024128;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153522	108153522	NC_000011.9:g.108153522G>C	-
NM_000051.4(ATM):c.3663G>A (p.Trp1221Ter)	472	ATM	Pathogenic	864622490	RCV000206039\|RCV000235543\|RCV000563523\|RCV002478731\|RCV003468949;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108153523	108153523	NC_000011.9:g.108153523G>A	ClinGen:CA350108	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3663G>T (p.Trp1221Cys)	472	ATM	Uncertain significance	864622490	RCV001067644\|RCV003222217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108153523	108153523	11:g.108153523G>T	-
NM_000051.4(ATM):c.3665T>C (p.Leu1222Pro)	472	ATM	Uncertain significance	863224563	RCV000197547\|RCV000220901\|RCV000780885\|RCV001837746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108153525	108153525	NC_000011.9:g.108153525T>C	ClinGen:CA337299	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3665T>G (p.Leu1222Arg)	472	ATM	Uncertain significance	863224563	RCV001909408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153525	108153525	108153525	-
NM_000051.4(ATM):c.3667A>T (p.Asn1223Tyr)	472	ATM	Uncertain significance	1436681116	RCV001997846;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153527	108153527	108153527	-
NM_000051.4(ATM):c.3668A>G (p.Asn1223Ser)	472	ATM	Uncertain significance	2082301149	RCV001346362;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153528	108153528	108153528	-
NM_000051.4(ATM):c.3669_3670insTAG (p.Leu1224Ter)	472	ATM	Pathogenic	2082301397	RCV001201849\|RCV003284038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153529	108153530	11:g.108153529_108153530insTAG	-
NM_000051.4(ATM):c.3669T>A (p.Asn1223Lys)	472	ATM	Uncertain significance	1591641397	RCV001337312;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153529	108153529	108153529	-
NM_000051.4(ATM):c.3669T>C (p.Asn1223=)	472	ATM	Likely benign	1591641397	RCV002171430;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153529	108153529	108153529	-
NM_000051.4(ATM):c.3673C>T (p.Gln1225Ter)	472	ATM	Pathogenic	1555092430	RCV000542499\|RCV000657606\|RCV001020855;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153533	108153533	NC_000011.9:g.108153533C>T	ClinGen:CA382523231	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3675_3677del (p.Gln1225_Asp1226delinsHis)	472	ATM	Uncertain significance	1064795822	RCV000482005\|RCV000574499\|RCV001224230;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153534	108153536	11:g.108153534_108153536del	ClinGen:CA16619165	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3674A>G (p.Gln1225Arg)	472	ATM	Uncertain significance	2135689501	RCV001997954;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153534	108153534	108153534	-
NM_000051.4(ATM):c.3676G>C (p.Asp1226His)	472	ATM	Uncertain significance	370974808	RCV000220542\|RCV000227129\|RCV002298537\|RCV003469053;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108153536	108153536	11:g.108153536G>C	ClinGen:CA6265331	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3677A>G (p.Asp1226Gly)	472	ATM	Conflicting interpretations of pathogenicity	1555092445	RCV000531288\|RCV002456026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153537	108153537	NC_000011.9:g.108153537A>G	ClinGen:CA382523290	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3677A>T (p.Asp1226Val)	472	ATM	Uncertain significance	1555092445	RCV000571161\|RCV002469205\|RCV002530333;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153537	108153537	11:g.108153537A>T	ClinGen:CA382523292	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3678T>C (p.Asp1226=)	472	ATM	Likely benign	1591641476	RCV001427048;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153538	108153538	11:g.108153538T>C	-
NM_000051.4(ATM):c.3679A>G (p.Thr1227Ala)	472	ATM	Uncertain significance	1047871047	RCV000468295\|RCV002481421;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108153539	108153539	NC_000011.9:g.108153539A>G	ClinGen:CA16613330	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3680_3683del (p.Thr1227fs)	472	ATM	Likely pathogenic	2082302853	RCV001250184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153539	108153542	11:g.108153539_108153542del	-
NM_000051.4(ATM):c.3680C>G (p.Thr1227Ser)	472	ATM	Uncertain significance	-1	RCV002304816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153540	108153540	108153540	-
NM_000051.4(ATM):c.3681T>C (p.Thr1227=)	472	ATM	Likely benign	1388109606	RCV002079448\|RCV002346469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153541	108153541	108153541	-
NM_000051.4(ATM):c.3682G>A (p.Glu1228Lys)	472	ATM	Uncertain significance	1334793787	RCV001339108\|RCV003284219;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153542	108153542	108153542	-
NM_000051.4(ATM):c.3682G>T (p.Glu1228Ter)	472	ATM	Pathogenic	1334793787	RCV002012236;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153542	108153542	108153542	-
NM_000051.4(ATM):c.3686A>G (p.Tyr1229Cys)	472	ATM	Uncertain significance	1591641518	RCV001020879\|RCV001043699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153546	108153546	11:g.108153546A>G	-
NM_000051.4(ATM):c.3687C>A (p.Tyr1229Ter)	472	ATM	Pathogenic	2082303743	RCV001234931\|RCV003373071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153547	108153547	11:g.108153547C>A	-
NM_000051.4(ATM):c.3687C>T (p.Tyr1229=)	472	ATM	Likely benign	2082303743	RCV002456799\|RCV001466897;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153547	108153547	108153547	-
NM_000051.4(ATM):c.3688A>G (p.Asn1230Asp)	472	ATM	Uncertain significance	2082303886	RCV001049409;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153548	108153548	11:g.108153548A>G	-
NM_000051.4(ATM):c.3688A>T (p.Asn1230Tyr)	472	ATM	Uncertain significance	2082303886	RCV001991223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153548	108153548	108153548	-
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser)	472	ATM	Conflicting interpretations of pathogenicity	587782195	RCV000130847\|RCV000200096\|RCV000587182\|RCV001357259\|RCV003321515\|RCV003474771;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108153549	108153549	11:g.108153549A>G	ClinGen:CA294243	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3689A>T (p.Asn1230Ile)	472	ATM	Uncertain significance	587782195	RCV001059221\|RCV002469334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108153549	108153549	11:g.108153549A>T	-
NM_000051.4(ATM):c.3693_3697del (p.Leu1231fs)	472	ATM	Pathogenic	1555092477	RCV000555092\|RCV002358420;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153550	108153554	11:g.108153550_108153554del	ClinGen:CA658656236	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3690C>T (p.Asn1230=)	472	ATM	Likely benign	1555092475	RCV000581436\|RCV002529184;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153550	108153550	NC_000011.9:g.108153550C>T	ClinGen:CA476673311	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3690C>G (p.Asn1230Lys)	472	ATM	Uncertain significance	1555092475	RCV001916392;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153550	108153550	108153550	-
NM_000051.4(ATM):c.3691T>C (p.Leu1231=)	472	ATM	Conflicting interpretations of pathogenicity	1210990672	RCV000983749\|RCV002256639;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153551	108153551	11:g.108153551T>C	-
NM_000051.4(ATM):c.3692_3716del (p.Asn1230_Leu1231insTer)	472	ATM	Pathogenic	2082304563	RCV001061019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153551	108153575	11:g.108153551_108153575del	-
NM_000051.4(ATM):c.3693_3695del (p.Leu1231_Ser1232delinsPhe)	472	ATM	Uncertain significance	786203389	RCV000166672\|RCV000233674\|RCV000486858\|RCV003462220;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108153553	108153555	11:g.108153553_108153555del	ClinGen:CA196433	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3695CTT[1] (p.Ser1233del)	472	ATM	Uncertain significance	1555092499	RCV000559867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153554	108153556	11:g.108153554_108153556del	ClinGen:CA658656237	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3694T>C (p.Ser1232Pro)	472	ATM	Uncertain significance	183532834	RCV000688001\|RCV000763699\|RCV000777902\|RCV001779057\|RCV002067000\|RCV003472190;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Me	11	108153554	108153554	11:g.108153554T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3695_3713del (p.Ser1232fs)	472	ATM	Pathogenic	-1	RCV002283909;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153554	108153572	108153553	-
NM_000051.4(ATM):c.3695C>G (p.Ser1232Cys)	472	ATM	Uncertain significance	367603277	RCV000236770\|RCV000543894\|RCV000571286\|RCV001548749;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,Med	11	108153555	108153555	NC_000011.9:g.108153555C>G	ClinGen:CA10584339	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3695C>T (p.Ser1232Phe)	472	ATM	Uncertain significance	367603277	RCV001020900\|RCV001049883;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153555	108153555	11:g.108153555C>T	-
NM_000051.4(ATM):c.3699_3703del (p.Pro1235fs)	472	ATM	Pathogenic	2082305146	RCV001063352\|RCV001185508\|RCV003316827;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108153556	108153560	11:g.108153556_108153560del	-
NM_000051.4(ATM):c.3703_3708del (p.Pro1235_Phe1236del)	472	ATM	Uncertain significance	1591641635	RCV000788613\|RCV001060972\|RCV001805851;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153558	108153563	11:g.108153558_108153563del	-
NM_000051.4(ATM):c.3698C>T (p.Ser1233Phe)	472	ATM	Uncertain significance	-1	RCV002791562;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153558	108153558	NC_000011.9:g.108153558C>T	-
NM_000051.4(ATM):c.3702T>G (p.Phe1234Leu)	472	ATM	Uncertain significance	876659605	RCV000215477\|RCV000531518;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153562	108153562	11:g.108153562T>G	ClinGen:CA10579119	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3703C>T (p.Pro1235Ser)	472	ATM	Uncertain significance	779095853	RCV000567940\|RCV001218617;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153563	108153563	NC_000011.9:g.108153563C>T	ClinGen:CA6265334	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3704_3708del (p.Pro1235fs)	472	ATM	Pathogenic	2135690451	RCV001390838\|RCV002350732;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153564	108153568	108153563	-
NM_000051.4(ATM):c.3712_3716del (p.Leu1238fs)	472	ATM	Pathogenic/Likely pathogenic	786201675	RCV000164077\|RCV000222105\|RCV000459956\|RCV001554336\|RCV002492652;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108153565	108153569	11:g.108153565_108153569del	ClinGen:CA189990	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3707T>C (p.Phe1236Ser)	472	ATM	Uncertain significance	2082306350	RCV001306790;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153567	108153567	108153567	-
NM_000051.4(ATM):c.3709A>T (p.Ile1237Phe)	472	ATM	Uncertain significance	1555092528	RCV000580901\|RCV000806045\|RCV003128635\|RCV003465288;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108153569	108153569	11:g.108153569A>T	ClinGen:CA382523674	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3710T>G (p.Ile1237Ser)	472	ATM	Uncertain significance	786202897	RCV000165956\|RCV000217726\|RCV000468201\|RCV001194297;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108153570	108153570	11:g.108153570T>G	ClinGen:CA194643	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3714A>G (p.Leu1238=)	472	ATM	Likely benign	-1	RCV002349027\|RCV003094321;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153574	108153574		-
NM_000051.4(ATM):c.3716_3717insTCCTTTTATTTTATTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTCCAATTTCATCCATGTCCCTACAAA	472	ATM	Pathogenic	2135690630	RCV001381947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153575	108153576	108153575	-
NM_000051.4(ATM):c.3718A>T (p.Asn1240Tyr)	472	ATM	Uncertain significance	-1	RCV002620733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153578	108153578	NC_000011.9:g.108153578A>T	-
NM_000051.4(ATM):c.3721_3723del (p.Tyr1241del)	472	ATM	Uncertain significance	1555092538	RCV000563357\|RCV001065844;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153579	108153581	11:g.108153579_108153581del	ClinGen:CA658656239	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3720C>T (p.Asn1240=)	472	ATM	Likely benign	1478427829	RCV001468707;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153580	108153580	108153580	-
NM_000051.4(ATM):c.3721_3722del (p.Tyr1241fs)	472	ATM	Pathogenic	2135690723	RCV001922816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153581	108153582	108153580	-
NM_000051.4(ATM):c.3722A>G (p.Tyr1241Cys)	472	ATM	Uncertain significance	587782688	RCV001020972\|RCV001071575;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153582	108153582	11:g.108153582A>G	-
NM_000051.4(ATM):c.3723C>T (p.Tyr1241=)	472	ATM	Likely benign	772331389	RCV000556674\|RCV000583886;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153583	108153583	11:g.108153583C>T	ClinGen:CA6265336	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3724A>G (p.Thr1242Ala)	472	ATM	Uncertain significance	1591641743	RCV001020976\|RCV001342635\|RCV001570783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108153584	108153584	11:g.108153584A>G	-
NM_000051.4(ATM):c.3725C>G (p.Thr1242Arg)	472	ATM	Uncertain significance	1266811647	RCV000572908\|RCV000700441;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153585	108153585	11:g.108153585C>G	ClinGen:CA382523772	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3725C>A (p.Thr1242Lys)	472	ATM	Uncertain significance	1266811647	RCV000706716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153585	108153585	11:g.108153585C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3728A>G (p.Asn1243Ser)	472	ATM	Uncertain significance	730881363	RCV000537394\|RCV000567351;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153588	108153588	11:g.108153588A>G	ClinGen:CA382523786	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3730A>G (p.Ile1244Val)	472	ATM	Uncertain significance	2135690906	RCV002005038\|RCV002344146;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153590	108153590	108153590	-
NM_000051.4(ATM):c.3731T>C (p.Ile1244Thr)	472	ATM	Uncertain significance	1159658224	RCV001969910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153591	108153591	108153591	-
NM_000051.4(ATM):c.3732T>C (p.Ile1244=)	472	ATM	Likely benign	2135690957	RCV001419445\|RCV002350816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153592	108153592	108153592	-
NM_000051.4(ATM):c.3733G>T (p.Glu1245Ter)	472	ATM	Pathogenic	2082308153	RCV001223353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153593	108153593	11:g.108153593G>T	-
NM_000051.4(ATM):c.3739T>A (p.Phe1247Ile)	472	ATM	Uncertain significance	886506379	RCV000776764\|RCV001051970;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153599	108153599	NC_000011.9:g.108153599T>A	-
NM_000051.4(ATM):c.3740T>C (p.Phe1247Ser)	472	ATM	Uncertain significance	1064793581	RCV000479606\|RCV001833605;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153600	108153600	11:g.108153600T>C	ClinGen:CA16619166	CN169374 not specified;
NM_000051.4(ATM):c.3741C>T (p.Phe1247=)	472	ATM	Likely benign	780396420	RCV000777903\|RCV001446395;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153601	108153601	NC_000011.9:g.108153601C>T	-
NM_000051.4(ATM):c.3742T>G (p.Tyr1248Asp)	472	ATM	Uncertain significance	1180341161	RCV000804088\|RCV001021022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153602	108153602	11:g.108153602T>G	-
NM_000051.4(ATM):c.3742T>C (p.Tyr1248His)	472	ATM	Uncertain significance	1180341161	RCV001203405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153602	108153602	11:g.108153602T>C	-
NM_000051.4(ATM):c.3743A>G (p.Tyr1248Cys)	472	ATM	Uncertain significance	766226370	RCV000471000\|RCV000485361\|RCV000573918\|RCV001249850\|RCV001355191\|RCV003230500;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN1693	11	108153603	108153603	NC_000011.9:g.108153603A>G	ClinGen:CA6265338	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3743A>C (p.Tyr1248Ser)	472	ATM	Uncertain significance	766226370	RCV000558027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153603	108153603	NC_000011.9:g.108153603A>C	ClinGen:CA382523873	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3743A>T (p.Tyr1248Phe)	472	ATM	Uncertain significance	766226370	RCV001035244\|RCV001178395\|RCV002552451;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MeSH:D030342,MedGen:C0950123	11	108153603	108153603	11:g.108153603A>T	-
NM_000051.4(ATM):c.3744T>C (p.Tyr1248=)	472	ATM	Likely benign	1555092589	RCV000537614\|RCV001021025;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153604	108153604	NC_000011.9:g.108153604T>C	ClinGen:CA476673401	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3745A>T (p.Arg1249Ter)	472	ATM	Pathogenic	-1	RCV002363791\|RCV003094342;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153605	108153605	108153605	-
NM_000051.4(ATM):c.3746+1G>T	472	ATM	Likely pathogenic	2082309297	RCV001042076\|RCV003160284\|RCV003322843\|RCV003283884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153607	108153607	11:g.108153607G>T	-
NM_000051.4(ATM):c.3746+1G>A	472	ATM	Pathogenic	2082309297	RCV001784975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153607	108153607	108153607	-
NM_000051.4(ATM):c.3746+3A>G	472	ATM	Uncertain significance	2135691310	RCV002009038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153609	108153609	108153609	-
NM_000051.4(ATM):c.3746+4A>C	472	ATM	Conflicting interpretations of pathogenicity	1555092593	RCV000605869\|RCV000809179\|RCV001508323\|RCV002350455;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153610	108153610	11:g.108153610A>C	ClinGen:CA658795359	CN169374 not specified;
NM_000051.4(ATM):c.3746+4A>G	472	ATM	Conflicting interpretations of pathogenicity	1555092593	RCV000842482\|RCV001247588\|RCV001021027;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108153610	108153610	11:g.108153610A>G	-
NM_000051.4(ATM):c.3746+5G>A	472	ATM	Uncertain significance	876658419	RCV000215462\|RCV000550255\|RCV003462426;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108153611	108153611	11:g.108153611G>A	ClinGen:CA10579121	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3746+7T>G	472	ATM	Likely benign	-1	RCV002755285;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153613	108153613	NC_000011.9:g.108153613T>G	-
NM_000051.4(ATM):c.3746+10T>C	472	ATM	Likely benign	-1	RCV002834119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153616	108153616	NC_000011.9:g.108153616T>C	-
NM_000051.4(ATM):c.3746+11A>G	472	ATM	Likely benign	2082309757	RCV002220045;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153617	108153617	108153617	-
NM_000051.4(ATM):c.3746+12C>A	472	ATM	Likely benign	768841674	RCV001357836\|RCV002547674;	N	MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153618	108153618	108153618	-
NM_000051.4(ATM):c.3746+13A>G	472	ATM	Likely benign	777055245	RCV002123711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153619	108153619	108153619	-
NM_000051.4(ATM):c.3746+16A>T	472	ATM	Likely benign	1252299197	RCV002141296;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153622	108153622	108153622	-
NM_000051.4(ATM):c.3746+17C>T	472	ATM	Likely benign	1057520850	RCV000420656\|RCV001181109\|RCV002062321;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153623	108153623	11:g.108153623C>T	ClinGen:CA16605783	CN169374 not specified;
NM_000051.4(ATM):c.3746+18A>G	472	ATM	Conflicting interpretations of pathogenicity	2082310429	RCV001192127\|RCV001863047\|RCV002225806;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108153624	108153624	11:g.108153624A>G	-
NM_000051.4(ATM):c.3746+20_3746+21del	472	ATM	Likely benign	2135691794	RCV002139646;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153624	108153625	108153623	-
NM_000051.4(ATM):c.3746+18A>T	472	ATM	Likely benign	-1	RCV002876590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153624	108153624	NC_000011.9:g.108153624A>T	-
NM_000051.4(ATM):c.3746+19T>A	472	ATM	Likely benign	-1	RCV002841981;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153625	108153625	NC_000011.9:g.108153625T>A	-
NM_000051.4(ATM):c.3746+19T>C	472	ATM	Likely benign	-1	RCV002903746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153625	108153625	NC_000011.9:g.108153625T>C	-
NM_000051.4(ATM):c.3746+20A>G	472	ATM	Likely benign	1555092607	RCV000581838\|RCV002529185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108153626	108153626	NC_000011.9:g.108153626A>G	ClinGen:CA658683110	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3746+452_4363del	472	ATM	Likely pathogenic	-1	RCV001217465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154055	108160452	11:g.108154055_108154153del	-
NM_000051.4(ATM):c.3747-16A>G	472	ATM	Conflicting interpretations of pathogenicity	1555093241	RCV000583850\|RCV000608511\|RCV001860064\|RCV003471927;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108154938	108154938	NC_000011.9:g.108154938A>G	ClinGen:CA658683111	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3747-16A>T	472	ATM	Likely benign	-1	RCV002625083;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154938	108154938	NC_000011.9:g.108154938A>T	-
NM_000051.4(ATM):c.3747-11del	472	ATM	Benign	-1	RCV002893899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154939	108154939	NC_000011.9:g.108154943del	-
NM_000051.4(ATM):c.3747-14T>G	472	ATM	Likely benign	2082371250	RCV002138946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154940	108154940	108154940	-
NM_000051.4(ATM):c.3747-10C>G	472	ATM	Conflicting interpretations of pathogenicity	775274473	RCV000227510\|RCV000583321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154944	108154944	NC_000011.9:g.108154944C>G	ClinGen:CA10582812	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108284217)_(108284483_?)dup	472	ATM	Likely pathogenic	-1	RCV001031739;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154944	108155210	-1	-
NC_000011.9:g.(?_108154944)_(108155210_?)del	472	ATM	Pathogenic	-1	RCV001951588;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154944	108155210	-1	-
NM_000051.4(ATM):c.3747-9T>C	472	ATM	Likely benign	760676626	RCV002086709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154945	108154945	108154945	-
NM_000051.4(ATM):c.3747-8A>G	472	ATM	Likely benign	569612113	RCV000581721\|RCV000603117\|RCV000921007\|RCV002225676;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108154946	108154946	11:g.108154946A>G	ClinGen:CA228367981	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3747-3dup	472	ATM	Benign	2135703985	RCV002177597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154946	108154947	108154946	-
NM_000051.4(ATM):c.3747-7T>C	472	ATM	Likely benign	1057523136	RCV000425786\|RCV000538964;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154947	108154947	11:g.108154947T>C	ClinGen:CA16605785	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3747-7T>G	472	ATM	Uncertain significance	1057523136	RCV001327888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154947	108154947	108154947	-
NM_000051.4(ATM):c.3747-3_3751del	472	ATM	Likely pathogenic	1555093256	RCV000526399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154949	108154956	NC_000011.9:g.108154951_108154958del	ClinGen:CA658656246	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3747-2A>G	472	ATM	Pathogenic/Likely pathogenic	1057517213	RCV000409065\|RCV001805032;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154952	108154952	11:g.108154952A>G	ClinGen:CA16041404	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3747-1G>C	472	ATM	Pathogenic/Likely pathogenic	730881364	RCV000159717\|RCV000494137\|RCV001215130;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154953	108154953	NC_000011.9:g.108154953G>C	ClinGen:CA298228	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3748T>C (p.Ser1250Pro)	472	ATM	Uncertain significance	1555093268	RCV001021034\|RCV002549532;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154955	108154955	11:g.108154955T>C	-
NM_000051.4(ATM):c.3749C>A (p.Ser1250Tyr)	472	ATM	Uncertain significance	1555093273	RCV000627845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154956	108154956	11:g.108154956C>A	ClinGen:CA382524188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3749C>T (p.Ser1250Phe)	472	ATM	Uncertain significance	-1	RCV003025026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154956	108154956	NC_000011.9:g.108154956C>T	-
NM_000051.4(ATM):c.3750T>C (p.Ser1250=)	472	ATM	Likely benign	2135704195	RCV001477032;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154957	108154957	108154957	-
NM_000051.4(ATM):c.3751T>C (p.Cys1251Arg)	472	ATM	Uncertain significance	763730862	RCV000551590\|RCV000777904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154958	108154958	11:g.108154958T>C	ClinGen:CA6265348	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3752G>A (p.Cys1251Tyr)	472	ATM	Uncertain significance	1427548500	RCV001021053\|RCV001223387;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154959	108154959	11:g.108154959G>A	-
NM_000051.4(ATM):c.3752G>T (p.Cys1251Phe)	472	ATM	Uncertain significance	1427548500	RCV001059108\|RCV002348431;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154959	108154959	11:g.108154959G>T	-
NM_000051.4(ATM):c.3756_3757dup (p.Lys1253fs)	472	ATM	Pathogenic/Likely pathogenic	1555093289	RCV000540346\|RCV000771669\|RCV003470668;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108154960	108154961	11:g.108154960_108154961insTA	ClinGen:CA658656248	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3753T>C (p.Cys1251=)	472	ATM	Likely benign	2135704274	RCV001482613;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154960	108154960	108154960	-
NM_000051.4(ATM):c.3754_3756delinsCA (p.Tyr1252fs)	472	ATM	Pathogenic	786201886	RCV000164396\|RCV000487413\|RCV000527746\|RCV001354939\|RCV003398836\|RCV003462133;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108154961	108154963	11:g.108154962_108154963del	ClinGen:CA190854	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3755A>T (p.Tyr1252Phe)	472	ATM	Uncertain significance	2135704378	RCV001999098;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154962	108154962	108154962	-
NM_000051.4(ATM):c.3756T>A (p.Tyr1252Ter)	472	ATM	Pathogenic/Likely pathogenic	886039637	RCV000255522\|RCV000569538\|RCV000665264\|RCV002272199\|RCV003469203;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331\|MONDO:MONDO:0	11	108154963	108154963	11:g.108154963T>A	ClinGen:CA10588496	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3756T>C (p.Tyr1252=)	472	ATM	Likely benign	886039637	RCV000583179\|RCV001404123;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154963	108154963	NC_000011.9:g.108154963T>C	ClinGen:CA476744947	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3756T>G (p.Tyr1252Ter)	472	ATM	Pathogenic	886039637	RCV001236091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154963	108154963	11:g.108154963T>G	-
NM_000051.4(ATM):c.3758_3759del (p.Lys1253fs)	472	ATM	Pathogenic	2135704536	RCV001388289\|RCV002368225;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154965	108154966	108154964	-
NM_000051.4(ATM):c.3760del (p.Val1254fs)	472	ATM	Pathogenic	786203507	RCV000166841\|RCV000706738;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154966	108154966	11:g.108154966_108154966del	ClinGen:CA196848	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3764dup (p.Leu1255fs)	472	ATM	Pathogenic/Likely pathogenic	1555093303	RCV000479369\|RCV001178851\|RCV001386212\|RCV002489165;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108154967	108154968	NC_000011.9:g.108154971dup	ClinGen:CA16619167	CN517202 not provided;
NM_000051.4(ATM):c.3760G>A (p.Val1254Ile)	472	ATM	Uncertain significance	753717865	RCV001021074\|RCV001366255;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154967	108154967	11:g.108154967G>A	-
NM_000051.4(ATM):c.3764T>A (p.Leu1255Ter)	472	ATM	Pathogenic/Likely pathogenic	2082374257	RCV001066992\|RCV002348466\|RCV003469256;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108154971	108154971	11:g.108154971T>A	-
NM_000051.4(ATM):c.3764T>C (p.Leu1255Ser)	472	ATM	Uncertain significance	2082374257	RCV002024690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154971	108154971	108154971	-
NM_000051.4(ATM):c.3766A>T (p.Ile1256Phe)	472	ATM	Uncertain significance	1030517820	RCV000771648\|RCV001052689;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154973	108154973	NC_000011.9:g.108154973A>T	-
NM_000051.4(ATM):c.3768T>G (p.Ile1256Met)	472	ATM	Uncertain significance	765538231	RCV000806117\|RCV003362958;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154975	108154975	11:g.108154975T>G	-
NM_000051.4(ATM):c.3768T>A (p.Ile1256=)	472	ATM	Likely benign	765538231	RCV001424291\|RCV003160701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154975	108154975	108154975	-
NM_000051.4(ATM):c.3770C>T (p.Pro1257Leu)	472	ATM	Uncertain significance	758405529	RCV000705935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154977	108154977	NC_000011.9:g.108154977C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3771dup (p.His1258fs)	472	ATM	Pathogenic	-1	RCV002862592;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154977	108154978	NC_000011.9:g.108154978dup	-
NM_000051.4(ATM):c.3770C>A (p.Pro1257Gln)	472	ATM	Uncertain significance	-1	RCV002942903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154977	108154977	NC_000011.9:g.108154977C>A	-
NM_000051.4(ATM):c.3771A>C (p.Pro1257=)	472	ATM	Likely benign	1057523320	RCV000430838\|RCV001429763\|RCV002348219;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154978	108154978	11:g.108154978A>C	ClinGen:CA16606065	CN169374 not specified;
NM_000051.4(ATM):c.3771A>T (p.Pro1257=)	472	ATM	Likely benign	-1	RCV002838006;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154978	108154978		-
NM_000051.4(ATM):c.3772C>A (p.His1258Asn)	472	ATM	Uncertain significance	587782741	RCV000132246\|RCV000471942\|RCV000478016\|RCV001357095\|RCV003237339;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108154979	108154979	11:g.108154979C>A	ClinGen:CA169486	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3772C>T (p.His1258Tyr)	472	ATM	Uncertain significance	587782741	RCV001052690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154979	108154979	11:g.108154979C>T	-
NM_000051.4(ATM):c.3773A>G (p.His1258Arg)	472	ATM	Uncertain significance	1555093334	RCV000569560\|RCV001339456;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154980	108154980	NC_000011.9:g.108154980A>G	ClinGen:CA382524442	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3777G>A (p.Leu1259=)	472	ATM	Likely benign	780192529	RCV000427623\|RCV000571427\|RCV000698831;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154984	108154984	11:g.108154984G>A	ClinGen:CA6265354	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3778G>A (p.Val1260Met)	472	ATM	Uncertain significance	587782035	RCV000130491\|RCV001043108\|RCV001030528\|RCV001818314;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108154985	108154985	11:g.108154985G>A	ClinGen:CA166531	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3780G>A (p.Val1260=)	472	ATM	Likely benign	2135705020	RCV001423545;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154987	108154987	108154987	-
NM_000051.4(ATM):c.3783del (p.Arg1262fs)	472	ATM	Pathogenic	2082375533	RCV001243743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154989	108154989	11:g.108154989_108154989del	-
NM_000051.4(ATM):c.3783T>G (p.Ile1261Met)	472	ATM	Uncertain significance	1005444925	RCV000690195\|RCV001592876\|RCV002249409\|RCV002360735;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154990	108154990	NC_000011.9:g.108154990T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3783T>C (p.Ile1261=)	472	ATM	Conflicting interpretations of pathogenicity	1005444925	RCV001957187\|RCV002344057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154990	108154990	108154990	-
NM_000051.4(ATM):c.3784A>G (p.Arg1262Gly)	472	ATM	Uncertain significance	1591645509	RCV001021127\|RCV001063470;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154991	108154991	11:g.108154991A>G	-
NM_000051.4(ATM):c.3784A>T (p.Arg1262Ter)	472	ATM	Pathogenic	1591645509	RCV001192067\|RCV001386066;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154991	108154991	11:g.108154991A>T	-
NM_000051.4(ATM):c.3785G>T (p.Arg1262Ile)	472	ATM	Uncertain significance	786203618	RCV000167009\|RCV000459117\|RCV000994705\|RCV001535801\|RCV003398855\|RCV003468796;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0007254,MedGen:C0006142\|\|MONDO:MONDO:0	11	108154992	108154992	11:g.108154992G>T	ClinGen:CA197261	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3785G>A (p.Arg1262Lys)	472	ATM	Uncertain significance	786203618	RCV000562872\|RCV000803476;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154992	108154992	NC_000011.9:g.108154992G>A	ClinGen:CA382524551	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3785G>C (p.Arg1262Thr)	472	ATM	Uncertain significance	786203618	RCV001997357;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154992	108154992	108154992	-
NM_000051.4(ATM):c.3786A>G (p.Arg1262=)	472	ATM	Likely benign	2135705167	RCV001437026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154993	108154993	108154993	-
NM_000051.4(ATM):c.3787A>G (p.Ser1263Gly)	472	ATM	Uncertain significance	1276194109	RCV000689672\|RCV002343450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154994	108154994	NC_000011.9:g.108154994A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3788G>T (p.Ser1263Ile)	472	ATM	Uncertain significance	2082376058	RCV001056444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154995	108154995	11:g.108154995G>T	-
NM_000051.4(ATM):c.3790C>A (p.His1264Asn)	472	ATM	Uncertain significance	2135705273	RCV002030817\|RCV002352762;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108154997	108154997	108154997	-
NM_000051.4(ATM):c.3791A>C (p.His1264Pro)	472	ATM	Uncertain significance	-1	RCV002302189;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154998	108154998	108154998	-
NM_000051.4(ATM):c.3792T>C (p.His1264=)	472	ATM	Likely benign	2135705306	RCV002179702;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108154999	108154999	108154999	-
NM_000051.4(ATM):c.3793T>C (p.Phe1265Leu)	472	ATM	Uncertain significance	371526361	RCV000167365\|RCV000205586\|RCV000483445\|RCV000780912;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108155000	108155000	11:g.108155000T>C	ClinGen:CA198110	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3793T>G (p.Phe1265Val)	472	ATM	Uncertain significance	371526361	RCV000164232\|RCV001218195;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155000	108155000	11:g.108155000T>G	ClinGen:CA190404	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3794T>C (p.Phe1265Ser)	472	ATM	Uncertain significance	1565447114	RCV000694086\|RCV001191947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155001	108155001	NC_000011.9:g.108155001T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3796G>A (p.Asp1266Asn)	472	ATM	Uncertain significance	2135705400	RCV001524584\|RCV001872039;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155003	108155003	108155003	-
NM_000051.4(ATM):c.3796G>C (p.Asp1266His)	472	ATM	Uncertain significance	2135705400	RCV002041939;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155003	108155003	108155003	-
NM_000051.4(ATM):c.3800A>T (p.Glu1267Val)	472	ATM	Uncertain significance	781357995	RCV000627884\|RCV000777905;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155007	108155007	11:g.108155007A>T	ClinGen:CA6265356	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer)	472	ATM	Pathogenic	587779834	RCV000115179\|RCV000198788\|RCV000212002\|RCV001310114\|RCV001356822\|RCV001572625\|RCV001798314\|RCV002490772\|RCV003314561;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015278,MedGen:C2931038, Orphanet:13	11	108155008	108155008	NC_000011.9:g.108155009del	ClinGen:CA286815	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3802G>A (p.Val1268Met)	472	ATM	Uncertain significance	863224564	RCV000196544\|RCV000215921\|RCV000483314\|RCV001818482\|RCV003468900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155009	108155009	NC_000011.9:g.108155009G>A	ClinGen:CA336505	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3803T>C (p.Val1268Ala)	472	ATM	Uncertain significance	1269513731	RCV001299847\|RCV001773605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108155010	108155010	108155010	-
NM_000051.4(ATM):c.3806A>G (p.Lys1269Arg)	472	ATM	Conflicting interpretations of pathogenicity	146017595	RCV000165498\|RCV000206887\|RCV000590439\|RCV000763700\|RCV001798592\|RCV003462176;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108155013	108155013	11:g.108155013A>G	ClinGen:CA193557	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3807G>A (p.Lys1269=)	472	ATM	Likely benign	2135705663	RCV002203293;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155014	108155014	108155014	-
NM_000051.4(ATM):c.3810C>A (p.Ser1270=)	472	ATM	Likely benign	2135705736	RCV002191876\|RCV002352947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155017	108155017	108155017	-
NM_000051.4(ATM):c.3810C>T (p.Ser1270=)	472	ATM	Likely benign	2135705736	RCV002130468;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155017	108155017	108155017	-
NM_000051.4(ATM):c.3812T>C (p.Ile1271Thr)	472	ATM	Uncertain significance	1308232635	RCV001251416\|RCV001879823\|RCV002357059;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155019	108155019	11:g.108155019T>C	-
NM_000051.4(ATM):c.3813T>C (p.Ile1271=)	472	ATM	Likely benign	1057522326	RCV000435536\|RCV000937749\|RCV001021213;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155020	108155020	11:g.108155020T>C	ClinGen:CA16606179	CN169374 not specified;
NM_000051.4(ATM):c.3814G>A (p.Ala1272Thr)	472	ATM	Uncertain significance	1555093420	RCV000583063\|RCV001232289;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155021	108155021	11:g.108155021G>A	ClinGen:CA382524829	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3815C>A (p.Ala1272Asp)	472	ATM	Uncertain significance	2082377659	RCV001054579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155022	108155022	11:g.108155022C>A	-
NM_000051.4(ATM):c.3816T>C (p.Ala1272=)	472	ATM	Likely benign	-1	RCV002776019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155023	108155023		-
NM_000051.4(ATM):c.3817A>G (p.Asn1273Asp)	472	ATM	Uncertain significance	876660767	RCV000221928\|RCV000627863\|RCV001770185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108155024	108155024	11:g.108155024A>G	ClinGen:CA10579122	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3820C>T (p.Gln1274Ter)	472	ATM	Conflicting interpretations of pathogenicity	1453429915	RCV001385735;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155027	108155027	108155027	-
NM_000051.4(ATM):c.3820C>G (p.Gln1274Glu)	472	ATM	Uncertain significance	-1	RCV003039215;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155027	108155027	NC_000011.9:g.108155027C>G	-
NM_000051.4(ATM):c.3821A>G (p.Gln1274Arg)	472	ATM	Uncertain significance	1060501624	RCV000469540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155028	108155028	NC_000011.9:g.108155028A>G	ClinGen:CA16613334	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3821_3822delinsTA (p.Gln1274Leu)	472	ATM	Uncertain significance	1591645650	RCV000798483;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155028	108155029	NC_000011.9:g.108155028_108155029delinsTA	-
NM_000051.4(ATM):c.3822G>A (p.Gln1274=)	472	ATM	Likely benign	-1	RCV003019516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155029	108155029		-
NM_000051.4(ATM):c.3823A>T (p.Ile1275Phe)	472	ATM	Uncertain significance	2082378278	RCV001055849\|RCV002365711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155030	108155030	11:g.108155030A>T	-
NM_000051.4(ATM):c.3827A>C (p.Gln1276Pro)	472	ATM	Uncertain significance	770183693	RCV001021233\|RCV001344218;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155034	108155034	11:g.108155034A>C	-
NM_000051.4(ATM):c.3828A>G (p.Gln1276=)	472	ATM	Likely benign	1318728821	RCV000582456\|RCV001436720;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155035	108155035	11:g.108155035A>G	ClinGen:CA476745029	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3829G>C (p.Glu1277Gln)	472	ATM	Uncertain significance	1591645689	RCV001021241\|RCV001210463;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155036	108155036	11:g.108155036G>C	-
NM_000051.4(ATM):c.3830A>G (p.Glu1277Gly)	472	ATM	Uncertain significance	1555093463	RCV000627969\|RCV003162772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155037	108155037	11:g.108155037A>G	ClinGen:CA382524953	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3831G>C (p.Glu1277Asp)	472	ATM	Conflicting interpretations of pathogenicity	587781787	RCV000130042\|RCV000442870\|RCV000700863;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155038	108155038	11:g.108155038G>C	ClinGen:CA165593	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3831G>A (p.Glu1277=)	472	ATM	Likely benign	587781787	RCV000164129\|RCV000428304\|RCV001415391;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155038	108155038	11:g.108155038G>A	ClinGen:CA190105	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3832G>A (p.Asp1278Asn)	472	ATM	Uncertain significance	730881365	RCV000159718\|RCV000234345\|RCV000566259\|RCV001818353\|RCV003474817;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155039	108155039	NC_000011.9:g.108155039G>A	ClinGen:CA298229	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3832G>C (p.Asp1278His)	472	ATM	Uncertain significance	730881365	RCV001897597\|RCV002271689\|RCV002361157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155039	108155039	108155039	-
NM_000051.4(ATM):c.3834C>A (p.Asp1278Glu)	472	ATM	Uncertain significance	534864280	RCV000198363\|RCV000563031\|RCV001589075;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108155041	108155041	NC_000011.9:g.108155041C>A	ClinGen:CA337858	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3836G>A (p.Trp1279Ter)	472	ATM	Pathogenic	587779836	RCV000115181\|RCV000212003\|RCV001274265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155043	108155043	NC_000011.9:g.108155043G>A	ClinGen:CA286819	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3841del (p.Ser1281fs)	472	ATM	Pathogenic/Likely pathogenic	886039621	RCV000255461\|RCV001389908\|RCV003469200;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155045	108155045	11:g.108155045_108155045del	ClinGen:CA10588497	CN517202 not provided;
NM_000051.4(ATM):c.3839A>G (p.Lys1280Arg)	472	ATM	Uncertain significance	2082379727	RCV001036743\|RCV002363552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155046	108155046	11:g.108155046A>G	-
NM_000051.4(ATM):c.3840A>G (p.Lys1280=)	472	ATM	Likely benign	2135706465	RCV001410246\|RCV002368283;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155047	108155047	108155047	-
NM_000051.4(ATM):c.3841A>T (p.Ser1281Cys)	472	ATM	Uncertain significance	370785959	RCV000569251\|RCV000809385\|RCV001770509;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108155048	108155048	11:g.108155048A>T	ClinGen:CA6265359	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3842G>A (p.Ser1281Asn)	472	ATM	Uncertain significance	1064797161	RCV000488045\|RCV000570011\|RCV001834580;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155049	108155049	11:g.108155049G>A	ClinGen:CA16621627	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3843T>G (p.Ser1281Arg)	472	ATM	Uncertain significance	863224565	RCV000199552\|RCV000567335\|RCV001555609\|RCV003462317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155050	108155050	NC_000011.9:g.108155050T>G	ClinGen:CA338716	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3843TCT[1] (p.Leu1283del)	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002364091\|RCV003094399;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155050	108155052	108155049	-
NM_000051.4(ATM):c.3844C>A (p.Leu1282Ile)	472	ATM	Uncertain significance	876660568	RCV000216470\|RCV000540571\|RCV003469084;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155051	108155051	11:g.108155051C>A	ClinGen:CA10579123	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3844C>G (p.Leu1282Val)	472	ATM	Uncertain significance	876660568	RCV002008012;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155051	108155051	108155051	-
NM_000051.4(ATM):c.3846T>C (p.Leu1282=)	472	ATM	Likely benign	2135706640	RCV002184389;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155053	108155053	108155053	-
NM_000051.4(ATM):c.3847C>T (p.Leu1283=)	472	ATM	Likely benign	-1	RCV003045369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155054	108155054		-
NM_000051.4(ATM):c.3848T>C (p.Leu1283Pro)	472	ATM	Pathogenic/Likely pathogenic	730881389	RCV000159763\|RCV000474326\|RCV001290629\|RCV002466454\|RCV003225035;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108155055	108155055	NC_000011.9:g.108155055T>C	ClinGen:CA298351	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3850del (p.Thr1284fs)	472	ATM	Pathogenic	876660865	RCV000213614\|RCV000472137\|RCV000485880\|RCV001270927;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN221562	11	108155056	108155056	11:g.108155056_108155056del	ClinGen:CA10579124	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3849A>G (p.Leu1283=)	472	ATM	Likely benign	1591645848	RCV000943776;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155056	108155056	11:g.108155056A>G	-
NM_000051.4(ATM):c.3850A>G (p.Thr1284Ala)	472	ATM	Uncertain significance	879175186	RCV001931922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155057	108155057	108155057	-
NM_000051.4(ATM):c.3851C>G (p.Thr1284Arg)	472	ATM	Uncertain significance	1200767902	RCV000701035\|RCV001021292;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155058	108155058	NC_000011.9:g.108155058C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3852del (p.Asp1285fs)	472	ATM	Pathogenic/Likely pathogenic	886039605	RCV000254859\|RCV002288950\|RCV001859485\|RCV002356355;	N	MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155059	108155059	11:g.108155059_108155059del	ClinGen:CA10588498	CN517202 not provided;
NM_000051.4(ATM):c.3853_3854delinsAT (p.Asp1285Ile)	472	ATM	Uncertain significance	-1	RCV002296838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155060	108155061	108155060	-
NM_000051.4(ATM):c.3854A>G (p.Asp1285Gly)	472	ATM	Uncertain significance	2082381245	RCV001211011;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155061	108155061	11:g.108155061A>G	-
NM_000051.4(ATM):c.3857G>T (p.Cys1286Phe)	472	ATM	Uncertain significance	876660770	RCV000215400\|RCV000486124\|RCV000529333;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155064	108155064	11:g.108155064G>T	ClinGen:CA10579125	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3857G>C (p.Cys1286Ser)	472	ATM	Uncertain significance	876660770	RCV001965814\|RCV002352657;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155064	108155064	108155064	-
NM_000051.4(ATM):c.3858C>A (p.Cys1286Ter)	472	ATM	Pathogenic	2082381612	RCV001389206;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155065	108155065	108155065	-
NM_000051.4(ATM):c.3863C>T (p.Pro1288Leu)	472	ATM	Uncertain significance	2135707043	RCV001897551;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155070	108155070	108155070	-
NM_000051.4(ATM):c.3866del (p.Lys1289fs)	472	ATM	Pathogenic	-1	RCV003034287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155071	108155071	NC_000011.9:g.108155073del	-
NM_000051.4(ATM):c.3865A>T (p.Lys1289Ter)	472	ATM	Pathogenic	1131691160	RCV000494348\|RCV001224805;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155072	108155072	11:g.108155072A>T	ClinGen:CA382525312	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3865A>C (p.Lys1289Gln)	472	ATM	Uncertain significance	-1	RCV002297308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155072	108155072	108155072	-
NM_000051.4(ATM):c.3866A>G (p.Lys1289Arg)	472	ATM	Uncertain significance	876660633	RCV000214310\|RCV000459676;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155073	108155073	11:g.108155073A>G	ClinGen:CA10579126	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3868_3884del (p.Ile1290fs)	472	ATM	Pathogenic	2082382004	RCV001066508;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155075	108155091	11:g.108155075_108155091del	-
NM_000051.4(ATM):c.3868A>T (p.Ile1290Phe)	472	ATM	Uncertain significance	2082381917	RCV002015473;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155075	108155075	108155075	-
NM_000051.4(ATM):c.3869T>G (p.Ile1290Ser)	472	ATM	Uncertain significance	-1	RCV002829262;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155076	108155076	NC_000011.9:g.108155076T>G	-
NM_000051.4(ATM):c.3871C>G (p.Leu1291Val)	472	ATM	Uncertain significance	2135707210	RCV001957574;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155078	108155078	108155078	-
NM_000051.4(ATM):c.3872T>G (p.Leu1291Arg)	472	ATM	Uncertain significance	1555093536	RCV000566031\|RCV000691608;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155079	108155079	NC_000011.9:g.108155079T>G	ClinGen:CA382525375	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3872T>C (p.Leu1291Pro)	472	ATM	Uncertain significance	1555093536	RCV000709179;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155079	108155079	11:g.108155079T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3874G>C (p.Val1292Leu)	472	ATM	Uncertain significance	878853506	RCV000229036\|RCV003165588;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155081	108155081	NC_000011.9:g.108155081G>C	ClinGen:CA10582813	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3878_3994dup (p.Asn1293_Gln1331dup)	472	ATM	Uncertain significance	1591645970	RCV000822766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155083	108155084	11:g.108155083_108155084insAATATTCTTCCTTATTTTGCCTATGAGGGTACCAGAGACAGTGGGATGGCACAGCAAAGAGAGACTGCTACCAAGGTCTATGATATGCTTAAAAGTGAA	-
NM_000051.4(ATM):c.3877A>C (p.Asn1293His)	472	ATM	Uncertain significance	2135707323	RCV001969198;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155084	108155084	108155084	-
NM_000051.4(ATM):c.3878A>G (p.Asn1293Ser)	472	ATM	Conflicting interpretations of pathogenicity	2082382534	RCV001295304\|RCV003294197;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155085	108155085	108155085	-
NM_000051.4(ATM):c.3880dup (p.Ile1294fs)	472	ATM	Pathogenic/Likely pathogenic	1057516541	RCV000410605\|RCV000569268\|RCV002472999;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108155086	108155087	NC_000011.9:g.108155087dup	ClinGen:CA16041405	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3882T>C (p.Ile1294=)	472	ATM	Likely benign	1167387894	RCV002191877\|RCV002363711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155089	108155089	108155089	-
NM_000051.4(ATM):c.3883C>G (p.Leu1295Val)	472	ATM	Uncertain significance	1388457632	RCV002050584;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155090	108155090	108155090	-
NM_000051.4(ATM):c.3886_3889del (p.Pro1296fs)	472	ATM	Pathogenic/Likely pathogenic	-1	RCV003031096\|RCV003475471;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155090	108155093	NC_000011.9:g.108155093_108155096del	-
NM_000051.4(ATM):c.3884T>C (p.Leu1295Pro)	472	ATM	Uncertain significance	2082382999	RCV001346664;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155091	108155091	108155091	-
NM_000051.4(ATM):c.3886C>T (p.Pro1296Ser)	472	ATM	Conflicting interpretations of pathogenicity	864622654	RCV000206762\|RCV000478981\|RCV000573505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155093	108155093	11:g.108155093C>T	ClinGen:CA350768	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3888T>C (p.Pro1296=)	472	ATM	Likely benign	1555093582	RCV000613565\|RCV001447798;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155095	108155095	11:g.108155095T>C	ClinGen:CA476745088	CN169374 not specified;
NM_000051.4(ATM):c.3894dup (p.Ala1299fs)	472	ATM	Pathogenic	587781823	RCV000130103\|RCV000231882\|RCV000342511\|RCV003467130;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155097	108155098	11:g.108155097_108155098insT	ClinGen:CA165711	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3890A>G (p.Tyr1297Cys)	472	ATM	Uncertain significance	1591646047	RCV000812830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155097	108155097	11:g.108155097A>G	-
NM_000051.4(ATM):c.3891T>C (p.Tyr1297=)	472	ATM	Likely benign	2135707669	RCV001488607\|RCV002359097;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155098	108155098	108155098	-
NM_000051.4(ATM):c.3896C>T (p.Ala1299Val)	472	ATM	Uncertain significance	786203287	RCV000166524\|RCV001297308;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155103	108155103	11:g.108155103C>T	ClinGen:CA196094	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3897C>T (p.Ala1299=)	472	ATM	Likely benign	760491475	RCV000563085\|RCV001499687\|RCV001584380;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108155104	108155104	11:g.108155104C>T	ClinGen:CA476745098	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3897C>G (p.Ala1299=)	472	ATM	Conflicting interpretations of pathogenicity	760491475	RCV000700716\|RCV001021379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155104	108155104	NC_000011.9:g.108155104C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3897C>A (p.Ala1299=)	472	ATM	Likely benign	760491475	RCV002193167;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155104	108155104	108155104	-
NM_000051.4(ATM):c.3898T>C (p.Tyr1300His)	472	ATM	Uncertain significance	1591646097	RCV000800964;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155105	108155105	11:g.108155105T>C	-
NM_000051.4(ATM):c.3899A>G (p.Tyr1300Cys)	472	ATM	Conflicting interpretations of pathogenicity	183263185	RCV000159719\|RCV000212005\|RCV000398586\|RCV002281973\|RCV002288672;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155106	108155106	NC_000011.9:g.108155106A>G	ClinGen:CA298232	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3899A>T (p.Tyr1300Phe)	472	ATM	Uncertain significance	183263185	RCV002028418;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155106	108155106	108155106	-
NM_000051.4(ATM):c.3903G>C (p.Glu1301Asp)	472	ATM	Uncertain significance	2082384273	RCV001220369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155110	108155110	11:g.108155110G>C	-
NM_000051.4(ATM):c.3904G>A (p.Gly1302Ser)	472	ATM	Uncertain significance	2135707999	RCV002258602\|RCV003094246;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155111	108155111	108155111	-
NM_000051.4(ATM):c.3905G>T (p.Gly1302Val)	472	ATM	Uncertain significance	761673223	RCV001886694;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155112	108155112	108155112	-
NM_000051.4(ATM):c.3907A>G (p.Thr1303Ala)	472	ATM	Uncertain significance	1060501662	RCV000458342\|RCV001021408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155114	108155114	NC_000011.9:g.108155114A>G	ClinGen:CA16613413	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3909C>T (p.Thr1303=)	472	ATM	Likely benign	1555093618	RCV000546515\|RCV002358421;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155116	108155116	11:g.108155116C>T	ClinGen:CA476745113	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3910A>G (p.Arg1304Gly)	472	ATM	Conflicting interpretations of pathogenicity	1565447611	RCV000706304\|RCV003165921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155117	108155117	11:g.108155117A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3915C>T (p.Asp1305=)	472	ATM	Likely benign	1429663437	RCV000552981\|RCV001021427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155122	108155122	11:g.108155122C>T	ClinGen:CA476744892	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3916_3917del (p.Ser1306fs)	472	ATM	Pathogenic	2135708324	RCV001931427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155123	108155124	108155122	-
NM_000051.4(ATM):c.3918T>C (p.Ser1306=)	472	ATM	Likely benign	139632347	RCV000216396\|RCV000461105;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155125	108155125	11:g.108155125T>C	ClinGen:CA6265364	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3919G>A (p.Gly1307Arg)	472	ATM	Conflicting interpretations of pathogenicity	568451087	RCV000131248\|RCV000234723\|RCV000608362\|RCV001356054\|RCV001704057\|RCV002225443\|RCV001798449;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108155126	108155126	11:g.108155126G>A	ClinGen:CA167867	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3920G>A (p.Gly1307Glu)	472	ATM	Uncertain significance	2082385270	RCV001296570;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155127	108155127	108155127	-
NM_000051.4(ATM):c.3921G>A (p.Gly1307=)	472	ATM	Likely benign	969461745	RCV000567541\|RCV001417117;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155128	108155128	11:g.108155128G>A	ClinGen:CA228368285	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr)	472	ATM	Benign	149711770	RCV000115182\|RCV000122844\|RCV000212006\|RCV000587234\|RCV001249851\|RCV001355352\|RCV001762219\|RCV001798315;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0007254,MedGen:C00061	11	108155132	108155132	NC_000011.9:g.108155132G>A	ClinGen:CA242620	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3925G>C (p.Ala1309Pro)	472	ATM	Uncertain significance	149711770	RCV001348973\|RCV002377481;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155132	108155132	108155132	-
NM_000051.4(ATM):c.3927A>G (p.Ala1309=)	472	ATM	Conflicting interpretations of pathogenicity	1555093665	RCV000500405\|RCV000628210\|RCV002376918;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155134	108155134	NC_000011.9:g.108155134A>G	ClinGen:CA476744904	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3929A>G (p.Gln1310Arg)	472	ATM	Uncertain significance	-1	RCV003091870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155136	108155136	NC_000011.9:g.108155136A>G	-
NM_000051.4(ATM):c.3933_3934del (p.Glu1313fs)	472	ATM	Pathogenic	2082385904	RCV001061718;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155139	108155140	11:g.108155139_108155140del	-
NM_000051.4(ATM):c.3932A>C (p.Gln1311Pro)	472	ATM	Uncertain significance	2135708785	RCV002002173\|RCV003375486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155139	108155139	108155139	-
NM_000051.4(ATM):c.3932A>G (p.Gln1311Arg)	472	ATM	Uncertain significance	-1	RCV002300290;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155139	108155139	108155139	-
NM_000051.4(ATM):c.3933A>G (p.Gln1311=)	472	ATM	Likely benign	1060504304	RCV001418350;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155140	108155140	NC_000011.9:g.108155140A>G	ClinGen:CA16613335	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3934A>G (p.Arg1312Gly)	472	ATM	Uncertain significance	864622137	RCV000205564\|RCV001021469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155141	108155141	NC_000011.9:g.108155141A>G	ClinGen:CA349709	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3935dup (p.Glu1313fs)	472	ATM	Pathogenic/Likely pathogenic	876659672	RCV000223199\|RCV000411978\|RCV000483621\|RCV003462490;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155141	108155142	11:g.108155141_108155142insG	ClinGen:CA10579128	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3939_3940del (p.Glu1313fs)	472	ATM	Pathogenic/Likely pathogenic	1555093684	RCV000667702\|RCV000709712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155141	108155142	11:g.108155141_108155142del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3936A>G (p.Arg1312=)	472	ATM	Likely benign	-1	RCV002676210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155143	108155143		-
NM_000051.4(ATM):c.3937G>C (p.Glu1313Gln)	472	ATM	Uncertain significance	3092841	RCV000217563\|RCV000813783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155144	108155144	11:g.108155144G>C	ClinGen:CA10579129,UniProtKB:Q13315#VAR_056684	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3938A>G (p.Glu1313Gly)	472	ATM	Uncertain significance	1555093695	RCV000627992\|RCV001021472;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155145	108155145	11:g.108155145A>G	ClinGen:CA382525944	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3941C>T (p.Thr1314Ile)	472	ATM	Uncertain significance	751678973	RCV000567324\|RCV002526812;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155148	108155148	11:g.108155148C>T	ClinGen:CA6265365	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3943G>T (p.Ala1315Ser)	472	ATM	Uncertain significance	1064794757	RCV000480547\|RCV001372407;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155150	108155150	11:g.108155150G>T	ClinGen:CA16619169	CN169374 not specified;
NM_000051.4(ATM):c.3945T>A (p.Ala1315=)	472	ATM	Likely benign	2135709163	RCV002123286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155152	108155152	108155152	-
NM_000051.4(ATM):c.3946A>G (p.Thr1316Ala)	472	ATM	Uncertain significance	1555093708	RCV000575089\|RCV002530302;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155153	108155153	NC_000011.9:g.108155153A>G	ClinGen:CA382525989	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3947C>T (p.Thr1316Ile)	472	ATM	Uncertain significance	2135709186	RCV001928080;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155154	108155154	108155154	-
NM_000051.4(ATM):c.3948C>T (p.Thr1316=)	472	ATM	Likely benign	2135709208	RCV001490271\|RCV003160981;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155155	108155155	108155155	-
NM_000051.4(ATM):c.3949A>C (p.Lys1317Gln)	472	ATM	Uncertain significance	2082387020	RCV001294317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155156	108155156	108155156	-
NM_000051.4(ATM):c.3951G>A (p.Lys1317=)	472	ATM	Likely benign	1485996895	RCV000559045\|RCV000777265;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155158	108155158	11:g.108155158G>A	ClinGen:CA476744927	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3952del (p.Val1318fs)	472	ATM	Pathogenic/Likely pathogenic	1591646354	RCV000813081\|RCV002372287\|RCV003150353\|RCV003461215;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155158	108155158	11:g.108155158_108155158del	-
NM_000051.4(ATM):c.3952G>T (p.Val1318Phe)	472	ATM	Uncertain significance	587778074	RCV000120135\|RCV000216124\|RCV000472666\|RCV001753501\|RCV003467068;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155159	108155159	11:g.108155159G>T	ClinGen:CA157110	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3953T>G (p.Val1318Gly)	472	ATM	Uncertain significance	1565447790	RCV000777885\|RCV002507346;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155160	108155160	NC_000011.9:g.108155160T>G	-
NM_000051.4(ATM):c.3955_3958dup (p.Asp1320delinsValTer)	472	ATM	Pathogenic	1591646379	RCV000808757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155161	108155162	11:g.108155161_108155162insTATG	-
NM_000051.4(ATM):c.3956A>G (p.Tyr1319Cys)	472	ATM	Uncertain significance	1424433891	RCV000565156\|RCV001192389\|RCV001241359\|RCV003465189;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155163	108155163	11:g.108155163A>G	ClinGen:CA382526034	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3959A>T (p.Asp1320Val)	472	ATM	Uncertain significance	2135709499	RCV002019413;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155166	108155166	108155166	-
NM_000051.4(ATM):c.3959A>G (p.Asp1320Gly)	472	ATM	Uncertain significance	-1	RCV002715845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155166	108155166	NC_000011.9:g.108155166A>G	-
NM_000051.4(ATM):c.3960T>C (p.Asp1320=)	472	ATM	Likely benign	995275833	RCV002117268\|RCV002372936;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155167	108155167	108155167	-
NM_000051.4(ATM):c.3961A>G (p.Met1321Val)	472	ATM	Uncertain significance	730881366	RCV000159720\|RCV000573270\|RCV000703729\|RCV001357834;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108155168	108155168	NC_000011.9:g.108155168A>G	ClinGen:CA298235	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3962T>C (p.Met1321Thr)	472	ATM	Uncertain significance	928038643	RCV000569101\|RCV000794673;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155169	108155169	NC_000011.9:g.108155169T>C	ClinGen:CA228368332	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3963G>A (p.Met1321Ile)	472	ATM	Conflicting interpretations of pathogenicity	35184530	RCV000120136\|RCV000129195\|RCV000657024\|RCV001079506\|RCV001355120;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108155170	108155170	11:g.108155170G>A	ClinGen:CA157113,UniProtKB:Q13315#VAR_041561	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3964dup (p.Leu1322fs)	472	ATM	Pathogenic	2135709622	RCV001382713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155170	108155171	108155170	-
NM_000051.4(ATM):c.3963G>T (p.Met1321Ile)	472	ATM	Benign	35184530	RCV002107358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155170	108155170	108155170	-
NM_000051.4(ATM):c.3964C>A (p.Leu1322Ile)	472	ATM	Conflicting interpretations of pathogenicity	144535256	RCV000132364\|RCV000204555\|RCV000237005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108155171	108155171	11:g.108155171C>A	ClinGen:CA169707	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3964C>T (p.Leu1322Phe)	472	ATM	Uncertain significance	144535256	RCV000228552\|RCV003469125;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155171	108155171	NC_000011.9:g.108155171C>T	ClinGen:CA10582814	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108155171)_(108204924_?)del	472	ATM	Pathogenic	-1	RCV001958857;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155171	108204924	-1	-
NM_000051.4(ATM):c.3965T>A (p.Leu1322His)	472	ATM	Uncertain significance	786203306	RCV000166553\|RCV000480988\|RCV001850346;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155172	108155172	11:g.108155172T>A	ClinGen:CA196171	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3965T>C (p.Leu1322Pro)	472	ATM	Conflicting interpretations of pathogenicity	786203306	RCV000628053\|RCV001021541;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155172	108155172	11:g.108155172T>C	ClinGen:CA382526111	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3965T>G (p.Leu1322Arg)	472	ATM	Uncertain significance	786203306	RCV002042011;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155172	108155172	108155172	-
NM_000051.4(ATM):c.3968A>G (p.Lys1323Arg)	472	ATM	Uncertain significance	1295515377	RCV000530884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155175	108155175	NC_000011.9:g.108155175A>G	ClinGen:CA382526121	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3970A>C (p.Ser1324Arg)	472	ATM	Uncertain significance	2082388757	RCV001064325;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155177	108155177	11:g.108155177A>C	-
NM_000051.4(ATM):c.3977A>G (p.Asn1326Ser)	472	ATM	Uncertain significance	878853507	RCV000232254\|RCV001021570;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155184	108155184	NC_000011.9:g.108155184A>G	ClinGen:CA10582815	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3978C>A (p.Asn1326Lys)	472	ATM	Uncertain significance	778123057	RCV000165616\|RCV000481947\|RCV000472893\|RCV002478509\|RCV003114316\|RCV003468748;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108155185	108155185	11:g.108155185C>A	ClinGen:CA193830	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3979T>C (p.Leu1327=)	472	ATM	Likely benign	2135709876	RCV001448681\|RCV002377743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155186	108155186	108155186	-
NM_000051.4(ATM):c.3980T>G (p.Leu1327Ter)	472	ATM	Pathogenic/Likely pathogenic	587782192	RCV000130840\|RCV000463924\|RCV003462002;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155187	108155187	11:g.108155187T>G	ClinGen:CA167215	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3981A>T (p.Leu1327Phe)	472	ATM	Uncertain significance	1064794874	RCV000482123\|RCV000568454\|RCV000684962\|RCV000763701\|RCV002282168\|RCV003470564;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108155188	108155188	11:g.108155188A>T	ClinGen:CA16619170	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3982T>C (p.Leu1328=)	472	ATM	Conflicting interpretations of pathogenicity	876658204	RCV000218295\|RCV000952246\|RCV001658023\|RCV003150117;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:CN221562	11	108155189	108155189	11:g.108155189T>C	ClinGen:CA10579130	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3984G>A (p.Leu1328=)	472	ATM	Likely benign	1591646593	RCV001418938\|RCV002354828;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155191	108155191	11:g.108155191G>A	-
NM_000051.4(ATM):c.3987_3993+1del	472	ATM	Pathogenic	2135710049	RCV001950981;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155192	108155199	108155191	-
NM_000051.4(ATM):c.3990del (p.Lys1330fs)	472	ATM	Likely pathogenic	1057517100	RCV000410960;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155194	108155194	11:g.108155194_108155194del	ClinGen:CA16041406	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3991C>T (p.Gln1331Ter)	472	ATM	Pathogenic	2082389962	RCV001228896\|RCV002356979\|RCV003166393;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108155198	108155198	11:g.108155198C>T	-
NM_000051.4(ATM):c.3992A>G (p.Gln1331Arg)	472	ATM	Uncertain significance	876658669	RCV000217518\|RCV000226095\|RCV002288856;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155199	108155199	11:g.108155199A>G	ClinGen:CA10579131	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3993G>A (p.Gln1331=)	472	ATM	Uncertain significance	863224566	RCV000196677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155200	108155200	NC_000011.9:g.108155200G>A	ClinGen:CA336624	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3993G>C (p.Gln1331His)	472	ATM	Conflicting interpretations of pathogenicity	863224566	RCV000206293\|RCV000221742\|RCV000479019\|RCV003468966;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155200	108155200	NC_000011.9:g.108155200G>C	ClinGen:CA350344	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3993+1G>A	472	ATM	Pathogenic/Likely pathogenic	200196781	RCV000129961\|RCV000228950\|RCV000438634\|RCV003155921;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155201	108155201	11:g.108155201G>A	ClinGen:CA165426	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3993+1G>T	472	ATM	Pathogenic/Likely pathogenic	200196781	RCV000409640\|RCV002374612\|RCV003470339;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108155201	108155201	NC_000011.9:g.108155201G>T	ClinGen:CA16041407	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3993+2T>C	472	ATM	Conflicting interpretations of pathogenicity	2135710273	RCV001377633\|RCV003169935\|RCV003169934;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155202	108155202	108155202	-
NM_000051.4(ATM):c.3993+3A>G	472	ATM	Uncertain significance	771789242	RCV000484751\|RCV000583762\|RCV001225337;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155203	108155203	11:g.108155203A>G	ClinGen:CA6265366	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3993+4T>C	472	ATM	Uncertain significance	2082390512	RCV001040051\|RCV002372767;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108155204	108155204	11:g.108155204T>C	-
NM_000051.4(ATM):c.3993+5G>T	472	ATM	Benign/Likely benign	3092842	RCV000129022\|RCV000212007\|RCV001082999\|RCV001356113\|RCV001705901\|RCV002225398\|RCV003315837;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108155205	108155205	NC_000011.9:g.108155205G>T	ClinGen:CA293934	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3993+6G>T	472	ATM	Uncertain significance	878853508	RCV000231784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155206	108155206	NC_000011.9:g.108155206G>T	ClinGen:CA10582816	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3993+6G>A	472	ATM	Uncertain significance	878853508	RCV002041526;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155206	108155206	108155206	-
NM_000051.4(ATM):c.3993+9T>C	472	ATM	Likely benign	2135710402	RCV002096787;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155209	108155209	108155209	-
NM_000051.4(ATM):c.3993+12A>G	472	ATM	Likely benign	1057520703	RCV000421372\|RCV002064918;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155212	108155212	11:g.108155212A>G	ClinGen:CA16606808	CN169374 not specified;
NM_000051.4(ATM):c.3993+16T>G	472	ATM	Uncertain significance	2135710569	RCV001915646;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155216	108155216	108155216	-
NM_000051.4(ATM):c.3993+18A>G	472	ATM	Benign/Likely benign	201171518	RCV000581317\|RCV001672882\|RCV002060597;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155218	108155218	11:g.108155218A>G	ClinGen:CA228368453	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3993+19T>G	472	ATM	Uncertain significance	-1	RCV002895413;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155219	108155219	NC_000011.9:g.108155219T>G	-
NM_000051.4(ATM):c.3993+19T>C	472	ATM	Likely benign	-1	RCV002963265;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155219	108155219	NC_000011.9:g.108155219T>C	-
NM_000051.4(ATM):c.3993+20G>A	472	ATM	Likely benign	-1	RCV002910158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108155220	108155220	NC_000011.9:g.108155220G>A	-
NC_000011.9:g.(?_108156908)_(108160358_?)del	472	ATM	Pathogenic	-1	RCV003119174;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108156908	108160358		-
NM_000051.4(ATM):c.3994-193T>C	472	ATM	Benign	609261	RCV000607088\|RCV001520052;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158134	108158134	11:g.108158134T>C	ClinGen:CA15686552	CN169374 not specified;
NM_000051.4(ATM):c.3994-159A>G	472	ATM	Likely pathogenic	864622543	RCV000205430\|RCV001021603;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158168	108158168	11:g.108158168A>G	ClinGen:CA349592	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108158168)_(108160538_?)del	472	ATM	Pathogenic	-1	RCV001389392;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158168	108160538	-1	-
NM_000051.4(ATM):c.3994-121del	472	ATM	Likely benign	56013141	RCV000250791\|RCV000679116\|RCV001828125;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158206	108158206	NC_000011.9:g.108158206del	ClinGen:CA10587103	CN517202 not provided;
NM_000051.4(ATM):c.3994-18A>T	472	ATM	Likely benign	-1	RCV003003241;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158309	108158309	NC_000011.9:g.108158309A>T	-
NM_000051.4(ATM):c.3994-15T>A	472	ATM	Likely benign	2135734597	RCV002102655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158312	108158312	108158312	-
NM_000051.4(ATM):c.3994-11_3994-4del	472	ATM	Conflicting interpretations of pathogenicity	1060501665	RCV000459149\|RCV000478023\|RCV000581203\|RCV001704556;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108158313	108158320	NC_000011.9:g.108158316_108158323del	ClinGen:CA16613040	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3994-14T>A	472	ATM	Likely benign	-1	RCV003115965;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158313	108158313	NC_000011.9:g.108158313T>A	-
NM_000051.4(ATM):c.3994-12G>T	472	ATM	Conflicting interpretations of pathogenicity	1057520398	RCV000436977\|RCV000580794\|RCV002061572;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158315	108158315	11:g.108158315G>T	ClinGen:CA16606069	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3994-11T>G	472	ATM	Likely benign	-1	RCV002833153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158316	108158316	NC_000011.9:g.108158316T>G	-
NM_000051.4(ATM):c.3994-10G>C	472	ATM	Likely benign	186589241	RCV001434554;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158317	108158317	11:g.108158317G>C	-
NM_000051.4(ATM):c.3994-9C>T	472	ATM	Conflicting interpretations of pathogenicity	767111803	RCV000589533\|RCV001078690\|RCV001191541;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158318	108158318	11:g.108158318C>T	ClinGen:CA6265383	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3994-9C>A	472	ATM	Likely benign	767111803	RCV001413680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158318	108158318	108158318	-
NM_000051.4(ATM):c.3994-8C>T	472	ATM	Likely benign	2135734775	RCV002076666;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158319	108158319	108158319	-
NM_000051.4(ATM):c.3994-7C>T	472	ATM	Benign/Likely benign	769346400	RCV000472595\|RCV000579680\|RCV001553608\|RCV001643180;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108158320	108158320	NC_000011.9:g.108158320C>T	ClinGen:CA16613336	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3994-4G>C	472	ATM	Likely benign	1060504259	RCV000475769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158323	108158323	NC_000011.9:g.108158323G>C	ClinGen:CA16613133	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3994-3C>A	472	ATM	Uncertain significance	1060501681	RCV000458860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158324	108158324	NC_000011.9:g.108158324C>A	ClinGen:CA16613341	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3994-2A>G	472	ATM	Pathogenic/Likely pathogenic	587782276	RCV000131133\|RCV000198837\|RCV001580458\|RCV003155922;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158325	108158325	11:g.108158325A>G	ClinGen:CA167657	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3994-1G>T	472	ATM	Likely pathogenic	1057516238	RCV000411542\|RCV000562309\|RCV003470322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158326	108158326	NC_000011.9:g.108158326G>T	ClinGen:CA16041408	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.3994A>C (p.Ile1332Leu)	472	ATM	Uncertain significance	1064793534	RCV000480952\|RCV002525783\|RCV003298545;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158327	108158327	11:g.108158327A>C	ClinGen:CA16619171	CN169374 not specified;
NM_000051.4(ATM):c.3995T>G (p.Ile1332Ser)	472	ATM	Uncertain significance	1064793805	RCV000483145\|RCV001021605\|RCV001274266;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158328	108158328	11:g.108158328T>G	ClinGen:CA16619172	CN169374 not specified;
NM_000051.4(ATM):c.3996T>G (p.Ile1332Met)	472	ATM	Uncertain significance	1180449859	RCV000576079\|RCV001298777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158329	108158329	11:g.108158329T>G	ClinGen:CA382527423	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.3996T>C (p.Ile1332=)	472	ATM	Likely benign	1180449859	RCV001396428;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158329	108158329	108158329	-
NM_000051.4(ATM):c.3997G>A (p.Asp1333Asn)	472	ATM	Uncertain significance	1591655512	RCV000816465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158330	108158330	11:g.108158330G>A	-
NM_000051.4(ATM):c.3998A>T (p.Asp1333Val)	472	ATM	Uncertain significance	746709782	RCV000218774\|RCV000462777\|RCV000586338;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108158331	108158331	11:g.108158331A>T	ClinGen:CA6265384	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4000_4006del (p.His1334fs)	472	ATM	Pathogenic/Likely pathogenic	2135735093	RCV001382125\|RCV003462981;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158331	108158337	108158330	-
NM_000051.4(ATM):c.3999T>C (p.Asp1333=)	472	ATM	Likely benign	1591655534	RCV001498932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158332	108158332	11:g.108158332T>C	-
NM_000051.4(ATM):c.4001A>G (p.His1334Arg)	472	ATM	Uncertain significance	780865776	RCV000204669\|RCV000569521;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158334	108158334	11:g.108158334A>G	ClinGen:CA348869	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4004dup (p.Leu1335fs)	472	ATM	Pathogenic	-1	RCV003037985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158335	108158336	NC_000011.9:g.108158337dup	-
NM_000051.4(ATM):c.4003T>G (p.Leu1335Val)	472	ATM	Uncertain significance	863224568	RCV000200374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158336	108158336	NC_000011.9:g.108158336T>G	ClinGen:CA339273	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4003_4004del (p.Leu1335fs)	472	ATM	Pathogenic	-1	RCV002801403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158336	108158337	NC_000011.9:g.108158336_108158337del	-
NM_000051.4(ATM):c.4004T>A (p.Leu1335Ter)	472	ATM	Pathogenic	2082558148	RCV001240526;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158337	108158337	11:g.108158337T>A	-
NM_000051.4(ATM):c.4007dup (p.Ile1337fs)	472	ATM	Pathogenic	1555095841	RCV001935880;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158338	108158339	108158338	-
NM_000051.4(ATM):c.4007del (p.Phe1336fs)	472	ATM	Pathogenic/Likely pathogenic	1555095841	RCV000673529;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158339	108158339	11:g.108158339_108158339del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4006T>C (p.Phe1336Leu)	472	ATM	Uncertain significance	1565452452	RCV000774982\|RCV000793212\|RCV003322820\|RCV003465697;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158339	108158339	NC_000011.9:g.108158339T>C	-
NM_000051.4(ATM):c.4008C>T (p.Phe1336=)	472	ATM	Likely benign	748055132	RCV000162824\|RCV000559168\|RCV001704159;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108158341	108158341	11:g.108158341C>T	ClinGen:CA187035	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4010T>A (p.Ile1337Asn)	472	ATM	Uncertain significance	1060501660	RCV000466990\|RCV001021655\|RCV002244935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158343	108158343	NC_000011.9:g.108158343T>A	ClinGen:CA16613134	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4010T>C (p.Ile1337Thr)	472	ATM	Uncertain significance	1060501660	RCV000535206\|RCV001021656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158343	108158343	NC_000011.9:g.108158343T>C	ClinGen:CA382527549	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4011del (p.Ser1338fs)	472	ATM	Pathogenic	1591655633	RCV000793399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158343	108158343	11:g.108158343_108158343del	-
NM_000051.4(ATM):c.4010T>G (p.Ile1337Ser)	472	ATM	Uncertain significance	1060501660	RCV001237081\|RCV003353244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158343	108158343	11:g.108158343T>G	-
NM_000051.4(ATM):c.4012A>G (p.Ser1338Gly)	472	ATM	Uncertain significance	958750512	RCV000988681\|RCV001766806\|RCV002354895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158345	108158345	11:g.108158345A>G	-
NM_000051.4(ATM):c.4013G>A (p.Ser1338Asn)	472	ATM	Uncertain significance	1302951937	RCV002047352\|RCV002370363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158346	108158346	108158346	-
NM_000051.4(ATM):c.4019_4029del (p.Leu1340fs)	472	ATM	Pathogenic/Likely pathogenic	1057517140	RCV000410743\|RCV000564318\|RCV003470348;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158349	108158359	NC_000011.9:g.108158352_108158362del	ClinGen:CA16041409	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4017T>G (p.Asn1339Lys)	472	ATM	Uncertain significance	863224569	RCV000196770\|RCV003165465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158350	108158350	NC_000011.9:g.108158350T>G	ClinGen:CA336702	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4018T>C (p.Leu1340=)	472	ATM	Likely benign	1057522187	RCV000426022\|RCV000463821\|RCV000580758;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158351	108158351	11:g.108158351T>C	ClinGen:CA16605786	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4019T>A (p.Leu1340Ter)	472	ATM	Pathogenic	2082559544	RCV001050491\|RCV001580153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222	11	108158352	108158352	11:g.108158352T>A	-
NM_000051.4(ATM):c.4020A>G (p.Leu1340=)	472	ATM	Benign/Likely benign	1555095888	RCV000561872\|RCV000628242\|RCV001193064\|RCV001619796;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108158353	108158353	NC_000011.9:g.108158353A>G	ClinGen:CA476673568	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4023A>T (p.Pro1341=)	472	ATM	Likely benign	1020202983	RCV000774655\|RCV000981411;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158356	108158356	NC_000011.9:g.108158356A>T	-
NM_000051.4(ATM):c.4028T>C (p.Ile1343Thr)	472	ATM	Uncertain significance	1309605588	RCV000687940\|RCV001724139;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108158361	108158361	NC_000011.9:g.108158361T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4028_4034del (p.Ile1343fs)	472	ATM	Pathogenic	2135735834	RCV001383923;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158361	108158367	108158360	-
NM_000051.4(ATM):c.4029T>C (p.Ile1343=)	472	ATM	Likely benign	2135735847	RCV001410259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158362	108158362	108158362	-
NM_000051.4(ATM):c.4030G>T (p.Val1344Leu)	472	ATM	Uncertain significance	1565452575	RCV000774347\|RCV001856086;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158363	108158363	NC_000011.9:g.108158363G>T	-
NM_000051.4(ATM):c.4032G>C (p.Val1344=)	472	ATM	Likely benign	769871715	RCV000566690\|RCV000976303\|RCV001357919;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517	11	108158365	108158365	11:g.108158365G>C	ClinGen:CA6265386	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4032G>A (p.Val1344=)	472	ATM	Likely benign	769871715	RCV000582924\|RCV002060598;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158365	108158365	NC_000011.9:g.108158365G>A	ClinGen:CA476673575	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4033G>A (p.Val1345Met)	472	ATM	Uncertain significance	1216931701	RCV000820948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158366	108158366	11:g.108158366G>A	-
NM_000051.4(ATM):c.4034T>C (p.Val1345Ala)	472	ATM	Uncertain significance	-1	RCV002819812;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158367	108158367	NC_000011.9:g.108158367T>C	-
NM_000051.4(ATM):c.4035G>A (p.Val1345=)	472	ATM	Likely benign	2135735989	RCV001428070;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158368	108158368	108158368	-
NM_000051.4(ATM):c.4036G>T (p.Glu1346Ter)	472	ATM	Pathogenic	1060501528	RCV000461052\|RCV001021727;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158369	108158369	NC_000011.9:g.108158369G>T	ClinGen:CA16613138	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4038G>A (p.Glu1346=)	472	ATM	Likely benign	1591655790	RCV001021728\|RCV001503734;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158371	108158371	11:g.108158371G>A	-
NM_000051.4(ATM):c.4038G>T (p.Glu1346Asp)	472	ATM	Uncertain significance	-1	RCV002299290;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158371	108158371	108158371	-
NM_000051.4(ATM):c.4040T>A (p.Leu1347Ter)	472	ATM	Pathogenic	1565452621	RCV000760571\|RCV000777360\|RCV000801604;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158373	108158373	NC_000011.9:g.108158373T>A	-
NM_000051.4(ATM):c.4042T>C (p.Leu1348=)	472	ATM	Benign/Likely benign	56355831	RCV000119160\|RCV000162577\|RCV000679118\|RCV001080467\|RCV002225351;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108158375	108158375	11:g.108158375T>C	ClinGen:CA186506	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4045A>G (p.Met1349Val)	472	ATM	Uncertain significance	2082561329	RCV001306529;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158378	108158378	108158378	-
NM_000051.4(ATM):c.4046T>A (p.Met1349Lys)	472	ATM	Uncertain significance	2082561438	RCV001042571;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158379	108158379	11:g.108158379T>A	-
NM_000051.4(ATM):c.4047G>T (p.Met1349Ile)	472	ATM	Uncertain significance	1555095931	RCV000628188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158380	108158380	11:g.108158380G>T	ClinGen:CA382527861	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4047G>A (p.Met1349Ile)	472	ATM	Uncertain significance	1555095931	RCV001304565;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158380	108158380	108158380	-
NM_000051.4(ATM):c.4049C>T (p.Thr1350Met)	472	ATM	Uncertain significance	587781785	RCV000130040\|RCV000543134\|RCV000589125\|RCV001255215\|RCV002478391\|RCV003467129;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108158382	108158382	11:g.108158382C>T	ClinGen:CA165587	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4050G>A (p.Thr1350=)	472	ATM	Benign/Likely benign	770697446	RCV000166416\|RCV000226474\|RCV000614109\|RCV003316053;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158383	108158383	11:g.108158383G>A	ClinGen:CA195821	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4052del (p.Leu1351fs)	472	ATM	Pathogenic	786202350	RCV000165114\|RCV000205906\|RCV000479817;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108158384	108158384	11:g.108158384_108158384del	ClinGen:CA192548	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4052T>A (p.Leu1351Ter)	472	ATM	Pathogenic	1565452687	RCV000706122;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158385	108158385	11:g.108158385T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4053A>G (p.Leu1351=)	472	ATM	Likely benign	1565452695	RCV000772781\|RCV001473363;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158386	108158386	NC_000011.9:g.108158386A>G	-
NM_000051.4(ATM):c.4056_4065del (p.His1352fs)	472	ATM	Pathogenic	1555095955	RCV000560088\|RCV002323895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158387	108158396	11:g.108158387_108158396del	ClinGen:CA658656280	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4055A>G (p.His1352Arg)	472	ATM	Uncertain significance	925124248	RCV000568405\|RCV001235770\|RCV003114681\|RCV003470807;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158388	108158388	11:g.108158388A>G	ClinGen:CA228371475	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4055A>T (p.His1352Leu)	472	ATM	Uncertain significance	925124248	RCV001021761\|RCV001218297;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158388	108158388	11:g.108158388A>T	-
NM_000051.4(ATM):c.4056T>C (p.His1352=)	472	ATM	Likely benign	587780622	RCV000122845\|RCV000165556\|RCV000426108;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108158389	108158389	NC_000011.9:g.108158389T>C	ClinGen:CA193677	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4057G>A (p.Glu1353Lys)	472	ATM	Uncertain significance	2135736601	RCV001948881;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158390	108158390	108158390	-
NM_000051.4(ATM):c.4058A>G (p.Glu1353Gly)	472	ATM	Uncertain significance	917721053	RCV000485852\|RCV000536133\|RCV000581903;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158391	108158391	11:g.108158391A>G	ClinGen:CA16619173	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr)	472	ATM	Conflicting interpretations of pathogenicity	145119475	RCV000115184\|RCV000193232\|RCV000168271\|RCV000656759\|RCV001354169\|RCV003389684;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|	11	108158393	108158393	NC_000011.9:g.108158393C>A	ClinGen:CA206573	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4061C>A (p.Pro1354Gln)	472	ATM	Uncertain significance	1565452743	RCV000700501;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158394	108158394	NC_000011.9:g.108158394C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4062A>C (p.Pro1354=)	472	ATM	Likely benign	1555095974	RCV000603347\|RCV001457969;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158395	108158395	11:g.108158395A>C	ClinGen:CA476673590	CN169374 not specified;
NM_000051.4(ATM):c.4062A>T (p.Pro1354=)	472	ATM	Likely benign	1555095974	RCV001437980;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158395	108158395	108158395	-
NM_000051.4(ATM):c.4062del (p.Ala1355fs)	472	ATM	Likely pathogenic	2135736779	RCV001780657;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158395	108158395	108158394	-
NM_000051.4(ATM):c.4064C>T (p.Ala1355Val)	472	ATM	Uncertain significance	1591655990	RCV000798047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158397	108158397	11:g.108158397C>T	-
NM_000051.4(ATM):c.4064C>G (p.Ala1355Gly)	472	ATM	Uncertain significance	-1	RCV003023243;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158397	108158397	NC_000011.9:g.108158397C>G	-
NM_000051.4(ATM):c.4065A>G (p.Ala1355=)	472	ATM	Likely benign	-1	RCV002844046;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158398	108158398		-
NM_000051.4(ATM):c.4066A>G (p.Asn1356Asp)	472	ATM	Conflicting interpretations of pathogenicity	147600485	RCV000115185\|RCV000122846\|RCV000212008\|RCV000586490\|RCV001358328\|RCV001535806;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:10	11	108158399	108158399	NC_000011.9:g.108158399A>G	ClinGen:CA286825	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4067A>C (p.Asn1356Thr)	472	ATM	Conflicting interpretations of pathogenicity	2135736874	RCV001368223\|RCV002322346;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158400	108158400	108158400	-
NM_000051.4(ATM):c.4069T>A (p.Ser1357Thr)	472	ATM	Uncertain significance	2082563881	RCV001058760;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158402	108158402	11:g.108158402T>A	-
NM_000051.4(ATM):c.4070C>G (p.Ser1357Cys)	472	ATM	Uncertain significance	730881390	RCV000159764\|RCV000695377;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158403	108158403	NC_000011.9:g.108158403C>G	ClinGen:CA298354	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4071T>C (p.Ser1357=)	472	ATM	Likely benign	767516955	RCV000215757\|RCV000679119\|RCV001086192\|RCV003387808;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108158404	108158404	11:g.108158404T>C	ClinGen:CA6265389	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4072A>G (p.Ser1358Gly)	472	ATM	Conflicting interpretations of pathogenicity	1176020475	RCV000804344\|RCV002325558;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158405	108158405	11:g.108158405A>G	-
NM_000051.4(ATM):c.4073G>C (p.Ser1358Thr)	472	ATM	Uncertain significance	2135737014	RCV002047484;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158406	108158406	108158406	-
NM_000051.4(ATM):c.4075G>A (p.Ala1359Thr)	472	ATM	Uncertain significance	1591656042	RCV000806831\|RCV001021813;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158408	108158408	11:g.108158408G>A	-
NM_000051.4(ATM):c.4077C>G (p.Ala1359=)	472	ATM	Likely benign	375606854	RCV000565124\|RCV002060385;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158410	108158410	11:g.108158410C>G	ClinGen:CA6265390	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4078A>T (p.Ser1360Cys)	472	ATM	Uncertain significance	761123780	RCV000219609\|RCV001209781;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158411	108158411	NC_000011.9:g.108158411A>T	ClinGen:CA6265391	CN169374 not specified;
NM_000051.4(ATM):c.4078A>G (p.Ser1360Gly)	472	ATM	Uncertain significance	761123780	RCV001992279;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158411	108158411	108158411	-
NM_000051.4(ATM):c.4079G>A (p.Ser1360Asn)	472	ATM	Uncertain significance	764564211	RCV000164540\|RCV000468331\|RCV002478502\|RCV003328561;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108158412	108158412	11:g.108158412G>A	ClinGen:CA191224	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4080T>G (p.Ser1360Arg)	472	ATM	Uncertain significance	2135737207	RCV001997279;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158413	108158413	108158413	-
NM_000051.4(ATM):c.4081C>T (p.Gln1361Ter)	472	ATM	Pathogenic	121434222	RCV000003182\|RCV000524615;	N	MONDO:MONDO:0018876,MedGen:C4721414, Orphanet:52416\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158414	108158414	11:g.108158414C>T	ClinGen:CA249428,OMIM:607585.0024	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4082A>G (p.Gln1361Arg)	472	ATM	Conflicting interpretations of pathogenicity	141921797	RCV000164614\|RCV000167992\|RCV000479421\|RCV000780899\|RCV003153441;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158415	108158415	11:g.108158415A>G	ClinGen:CA191395	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4083G>T (p.Gln1361His)	472	ATM	Uncertain significance	863224570	RCV000200558;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158416	108158416	NC_000011.9:g.108158416G>T	ClinGen:CA339387	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4083G>A (p.Gln1361=)	472	ATM	Likely benign	863224570	RCV001416216\|RCV002320123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158416	108158416	11:g.108158416G>A	-
NM_000051.4(ATM):c.4084A>G (p.Ser1362Gly)	472	ATM	Uncertain significance	1565452907	RCV000774553\|RCV001048918;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158417	108158417	NC_000011.9:g.108158417A>G	-
NM_000051.4(ATM):c.4085G>A (p.Ser1362Asn)	472	ATM	Uncertain significance	-1	RCV003079131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158418	108158418	NC_000011.9:g.108158418G>A	-
NM_000051.4(ATM):c.4087A>G (p.Thr1363Ala)	472	ATM	Uncertain significance	587779837	RCV000115186\|RCV000628153\|RCV000574275;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158420	108158420	NC_000011.9:g.108158420A>G	ClinGen:CA286828	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4087del (p.Thr1363fs)	472	ATM	Pathogenic	1555096035	RCV000537050;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158420	108158420	NC_000011.9:g.108158420del	ClinGen:CA658656282	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4091A>G (p.Asp1364Gly)	472	ATM	Uncertain significance	751169467	RCV000295039\|RCV000233318\|RCV000575696\|RCV001356547\|RCV001532978;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374	11	108158424	108158424	NC_000011.9:g.108158424A>G	ClinGen:CA6265393	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4091A>C (p.Asp1364Ala)	472	ATM	Uncertain significance	751169467	RCV001062946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158424	108158424	11:g.108158424A>C	-
NM_000051.4(ATM):c.4092C>A (p.Asp1364Glu)	472	ATM	Uncertain significance	876660956	RCV000218537\|RCV002516183;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158425	108158425	11:g.108158425C>A	ClinGen:CA10579133	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4092C>T (p.Asp1364=)	472	ATM	Likely benign	876660956	RCV000570057\|RCV001463155;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158425	108158425	11:g.108158425C>T	ClinGen:CA476673612	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4093del (p.Leu1365fs)	472	ATM	Pathogenic	2135737651	RCV001385544\|RCV002322364;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158425	108158425	108158424	-
NM_000051.4(ATM):c.4095_4096del (p.Leu1365_Cys1366insTer)	472	ATM	Likely pathogenic	1555096057	RCV000666871\|RCV003465456;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158426	108158427	11:g.108158426_108158427del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4093C>T (p.Leu1365Phe)	472	ATM	Uncertain significance	1423720712	RCV001921806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158426	108158426	108158426	-
NM_000051.4(ATM):c.4093C>A (p.Leu1365Ile)	472	ATM	Uncertain significance	-1	RCV003036772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158426	108158426	NC_000011.9:g.108158426C>A	-
NM_000051.4(ATM):c.4095C>T (p.Leu1365=)	472	ATM	Likely benign	2135737731	RCV002165430\|RCV002324528;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158428	108158428	108158428	-
NM_000051.4(ATM):c.4098_4099del (p.Cys1366_Asp1367delinsTer)	472	ATM	Pathogenic/Likely pathogenic	876658248	RCV000221878\|RCV000229319\|RCV001268237;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108158429	108158430	11:g.108158429_108158430del	ClinGen:CA10579134	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4101C>T (p.Asp1367=)	472	ATM	Likely benign	587780623	RCV000122847\|RCV000568099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158434	108158434	NC_000011.9:g.108158434C>T	ClinGen:CA332333	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4101del (p.Ser1369fs)	472	ATM	Pathogenic	1565453029	RCV000698442;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158434	108158434	11:g.108158434_108158434del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4104_4105del (p.Ser1369fs)	472	ATM	Pathogenic/Likely pathogenic	879254189	RCV000236151\|RCV000573604\|RCV000807392;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158435	108158436	NC_000011.9:g.108158437_108158438del	ClinGen:CA10584340	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4105del (p.Ser1369fs)	472	ATM	Pathogenic	-1	RCV003062451;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158435	108158435	NC_000011.9:g.108158438del	-
NM_000051.4(ATM):c.4104T>C (p.Phe1368=)	472	ATM	Likely benign	569614591	RCV000777906\|RCV001451407;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158437	108158437	NC_000011.9:g.108158437T>C	-
NM_000051.4(ATM):c.4104T>A (p.Phe1368Leu)	472	ATM	Uncertain significance	569614591	RCV001953159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158437	108158437	108158437	-
NM_000051.4(ATM):c.4106C>A (p.Ser1369Ter)	472	ATM	Pathogenic/Likely pathogenic	1057520640	RCV000435435\|RCV000472677\|RCV000565000\|RCV002506024\|RCV003470377;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108158439	108158439	11:g.108158439C>A	ClinGen:CA16606070	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4107A>G (p.Ser1369=)	472	ATM	Likely benign	2135738048	RCV001395667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158440	108158440	108158440	-
NM_000051.4(ATM):c.4109+1G>T	472	ATM	Likely pathogenic	879254034	RCV000235964\|RCV001378173\|RCV002321904\|RCV003469183;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108158443	108158443	NC_000011.9:g.108158443G>T	ClinGen:CA10584341	CN517202 not provided;
NM_000051.4(ATM):c.4109+1G>A	472	ATM	Likely pathogenic	879254034	RCV002016734\|RCV002324486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158443	108158443	108158443	-
NM_000051.4(ATM):c.4109+3A>G	472	ATM	Uncertain significance	1388807238	RCV001034812\|RCV002320225;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158445	108158445	11:g.108158445A>G	-
NM_000051.4(ATM):c.4109+4T>C	472	ATM	Conflicting interpretations of pathogenicity	754706599	RCV000434541\|RCV000561615\|RCV001220238\|RCV001355209;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108158446	108158446	11:g.108158446T>C	ClinGen:CA6265394	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4109+4T>G	472	ATM	Uncertain significance	754706599	RCV001237959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158446	108158446	11:g.108158446T>G	-
NM_000051.4(ATM):c.4109+14_4109+15insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGGAGGGAGAGGGAGAGGGAGAGGGAGAGGGAGG	472	ATM	Uncertain significance	2135738255	RCV001894193;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158446	108158447	108158446	-
NM_000051.4(ATM):c.4109+5G>A	472	ATM	Conflicting interpretations of pathogenicity	2082568277	RCV001040379\|RCV002320248\|RCV003223691;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108158447	108158447	11:g.108158447G>A	-
NM_000051.4(ATM):c.4109+6T>C	472	ATM	Conflicting interpretations of pathogenicity	368606937	RCV000196920\|RCV000588070\|RCV000776097\|RCV001530925;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108158448	108158448	NC_000011.9:g.108158448T>C	ClinGen:CA336807	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4109+6T>G	472	ATM	Uncertain significance	368606937	RCV000550661\|RCV000771714;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108158448	108158448	NC_000011.9:g.108158448T>G	ClinGen:CA658656285	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4109+7A>G	472	ATM	Likely benign	2135738309	RCV001481196;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158449	108158449	108158449	-
NM_000051.4(ATM):c.4109+8C>T	472	ATM	Likely benign	1591656404	RCV000988682;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158450	108158450	11:g.108158450C>T	-
NM_000051.4(ATM):c.4109+8C>A	472	ATM	Likely benign	1591656404	RCV001443367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158450	108158450	108158450	-
NM_000051.4(ATM):c.4109+9A>C	472	ATM	Benign/Likely benign	730881289	RCV000159616\|RCV001415429;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158451	108158451	NC_000011.9:g.108158451A>C	ClinGen:CA298000	CN169374 not specified;
NM_000051.4(ATM):c.4109+9A>G	472	ATM	Likely benign	730881289	RCV002167222;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158451	108158451	108158451	-
NM_000051.4(ATM):c.4109+10T>C	472	ATM	Conflicting interpretations of pathogenicity	1236628481	RCV000780882\|RCV000975834;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158452	108158452	NC_000011.9:g.108158452T>C	-
NM_000051.4(ATM):c.4109+11T>C	472	ATM	Likely benign	749158400	RCV000436851\|RCV000580650\|RCV002059589;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158453	108158453	11:g.108158453T>C	ClinGen:CA6265395	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4109+11T>G	472	ATM	Likely benign	749158400	RCV002209531;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158453	108158453	108158453	-
NM_000051.4(ATM):c.4109+16A>G	472	ATM	Uncertain significance	2135738603	RCV002010268;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158458	108158458	108158458	-
NM_000051.4(ATM):c.4109+17C>G	472	ATM	Likely benign	-1	RCV002819498;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158459	108158459	NC_000011.9:g.108158459C>G	-
NM_000051.4(ATM):c.4109+19T>C	472	ATM	Likely benign	-1	RCV002862067;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158461	108158461	NC_000011.9:g.108158461T>C	-
NM_000051.4(ATM):c.4109+54A>T	472	ATM	Likely benign	181020146	RCV000209481\|RCV001451505;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108158496	108158496	11:g.108158496A>T	ClinGen:CA351047	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4110-16C>A	472	ATM	Likely benign	2135749803	RCV002160087;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159688	108159688	108159688	-
NM_000051.4(ATM):c.4110-12T>C	472	ATM	Likely benign	2135749934	RCV002160181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159692	108159692	108159692	-
NM_000051.4(ATM):c.4110-11A>T	472	ATM	Likely benign	760715107	RCV000774128\|RCV002067287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159693	108159693	NC_000011.9:g.108159693A>T	-
NM_000051.4(ATM):c.4110-10A>G	472	ATM	Uncertain significance	2082636753	RCV001299446;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159694	108159694	108159694	-
NC_000011.9:g.(?_108159694)_(108160538_?)del	472	ATM	Uncertain significance	-1	RCV003119163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159694	108160538		-
NM_000051.4(ATM):c.4110-9C>A	472	ATM	Conflicting interpretations of pathogenicity	730881367	RCV000159721\|RCV000472580\|RCV002509261;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108159695	108159695	NC_000011.9:g.108159695C>A	ClinGen:CA298238	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4110-9C>G	472	ATM	Conflicting interpretations of pathogenicity	730881367	RCV000474638\|RCV000479444\|RCV001021891\|RCV003476060;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159695	108159695	NC_000011.9:g.108159695C>G	ClinGen:CA16613348	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4110-9C>T	472	ATM	Likely benign	730881367	RCV001451615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159695	108159695	11:g.108159695C>T	ClinGen:CA658795361	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4110-8T>C	472	ATM	Likely benign	2135750082	RCV001479761;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159696	108159696	108159696	-
NM_000051.4(ATM):c.4110-6T>C	472	ATM	Likely benign	1060504277	RCV000464421;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159698	108159698	NC_000011.9:g.108159698T>C	ClinGen:CA16613043	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4110-4T>C	472	ATM	Conflicting interpretations of pathogenicity	777186156	RCV000526638\|RCV000570155\|RCV001354274\|RCV001798870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517\|MedGen:CN221562	11	108159700	108159700	NC_000011.9:g.108159700T>C	ClinGen:CA6265405	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4110-4T>G	472	ATM	Likely benign	777186156	RCV000627886\|RCV001021890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159700	108159700	11:g.108159700T>G	ClinGen:CA658795362	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4110-3T>C	472	ATM	Uncertain significance	-1	RCV003015625;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159701	108159701	NC_000011.9:g.108159701T>C	-
NM_000051.4(ATM):c.4110-2A>G	472	ATM	Pathogenic	2135750262	RCV001951165;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159702	108159702	108159702	-
NM_000051.4(ATM):c.4111del	472	ATM	Pathogenic/Likely pathogenic	797045114	RCV000190639\|RCV000213987\|RCV003401041\|RCV003468877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159703	108159703		ClinGen:CA276028
NM_000051.4(ATM):c.4110-1G>A	472	ATM	Pathogenic/Likely pathogenic	1060501692	RCV000462992\|RCV000566126\|RCV001310115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159703	108159703	NC_000011.9:g.108159703G>A	ClinGen:CA16613418	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4110-1G>C	472	ATM	Pathogenic/Likely pathogenic	1060501692	RCV001035121\|RCV002320228\|RCV003467700;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159703	108159703	11:g.108159703G>C	-
NM_000051.4(ATM):c.4110G>C (p.Gly1370=)	472	ATM	Uncertain significance	2082638172	RCV001978469\|RCV002258351;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159704	108159704	108159704	-
NM_000051.4(ATM):c.4112A>G (p.Asp1371Gly)	472	ATM	Uncertain significance	-1	RCV003071429;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159706	108159706	NC_000011.9:g.108159706A>G	-
NM_000051.4(ATM):c.4115del (p.Leu1372fs)	472	ATM	Pathogenic	2082638431	RCV001224516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159707	108159707	11:g.108159707_108159707del	-
NM_000051.4(ATM):c.4114T>C (p.Leu1372=)	472	ATM	Likely benign	762242838	RCV000467849\|RCV001021897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159708	108159708	NC_000011.9:g.108159708T>C	ClinGen:CA6265406	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4114T>G (p.Leu1372Val)	472	ATM	Uncertain significance	762242838	RCV001327809\|RCV002322260\|RCV002246304;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108159708	108159708	108159708	-
NM_000051.4(ATM):c.4120C>T (p.Pro1374Ser)	472	ATM	Uncertain significance	749215545	RCV000575905\|RCV001068517;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159714	108159714	11:g.108159714C>T	ClinGen:CA6265407	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4123G>A (p.Ala1375Thr)	472	ATM	Uncertain significance	2135750720	RCV001959221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159717	108159717	108159717	-
NM_000051.4(ATM):c.4125T>A (p.Ala1375=)	472	ATM	Likely benign	1555096804	RCV000560950\|RCV001437371;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159719	108159719	11:g.108159719T>A	ClinGen:CA476673677	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4125T>C (p.Ala1375=)	472	ATM	Likely benign	1555096804	RCV001021917\|RCV002067644;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159719	108159719	11:g.108159719T>C	-
NM_000051.4(ATM):c.4125del (p.Pro1376fs)	472	ATM	Pathogenic	-1	RCV002867357;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159719	108159719	NC_000011.9:g.108159719del	-
NM_000051.4(ATM):c.4126C>G (p.Pro1376Ala)	472	ATM	Uncertain significance	863224571	RCV000199468\|RCV001762418\|RCV003278695;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159720	108159720	NC_000011.9:g.108159720C>G	ClinGen:CA338659	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4127C>G (p.Pro1376Arg)	472	ATM	Uncertain significance	786202406	RCV000165200\|RCV000460583;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159721	108159721	11:g.108159721C>G	ClinGen:CA192742	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4128T>G (p.Pro1376=)	472	ATM	Likely benign	2135750893	RCV001480334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159722	108159722	108159722	-
NM_000051.4(ATM):c.4129A>T (p.Asn1377Tyr)	472	ATM	Uncertain significance	2082639157	RCV001040208;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159723	108159723	11:g.108159723A>T	-
NM_000051.4(ATM):c.4129A>C (p.Asn1377His)	472	ATM	Uncertain significance	2082639157	RCV001338441;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159723	108159723	108159723	-
NM_000051.4(ATM):c.4130A>G (p.Asn1377Ser)	472	ATM	Uncertain significance	1565454896	RCV000709180;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159724	108159724	11:g.108159724A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4130A>C (p.Asn1377Thr)	472	ATM	Uncertain significance	1565454896	RCV001343207;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159724	108159724	108159724	-
NM_000051.4(ATM):c.4131T>C (p.Asn1377=)	472	ATM	Likely benign	2082639582	RCV002189112\|RCV002331839;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159725	108159725	108159725	-
NM_000051.4(ATM):c.4132C>A (p.Pro1378Thr)	472	ATM	Uncertain significance	1555096817	RCV000581771\|RCV002529186;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159726	108159726	11:g.108159726C>A	ClinGen:CA382529853	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4132C>G (p.Pro1378Ala)	472	ATM	Uncertain significance	1555096817	RCV001238831\|RCV002327575\|RCV003151843;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108159726	108159726	11:g.108159726C>G	-
NM_000051.4(ATM):c.4133del (p.Pro1378fs)	472	ATM	Pathogenic	2135751048	RCV001385195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159726	108159726	108159725	-
NM_000051.4(ATM):c.4133C>T (p.Pro1378Leu)	472	ATM	Uncertain significance	750771205	RCV000213085\|RCV000539074\|RCV002254917\|RCV003469001;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159727	108159727	11:g.108159727C>T	ClinGen:CA6265408	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4134A>G (p.Pro1378=)	472	ATM	Likely benign	1591660328	RCV001505444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159728	108159728	11:g.108159728A>G	-
NM_000051.4(ATM):c.4135C>T (p.Pro1379Ser)	472	ATM	Uncertain significance	1555096828	RCV000583239\|RCV001040901;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159729	108159729	11:g.108159729C>T	ClinGen:CA382529877	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4135C>A (p.Pro1379Thr)	472	ATM	Uncertain significance	1555096828	RCV002012983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159729	108159729	108159729	-
NM_000051.4(ATM):c.4138C>T (p.His1380Tyr)	472	ATM	Benign	3092856	RCV000120137\|RCV000128897\|RCV000284881\|RCV000710672\|RCV002225360\|RCV003149821\|RCV003315726;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN221562\|MONDO:MONDO:00164	11	108159732	108159732	11:g.108159732C>T	ClinGen:CA157116,UniProtKB:Q13315#VAR_041562	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4143dup (p.Pro1382fs)	472	ATM	Pathogenic	730881309	RCV000159639\|RCV000235103\|RCV000474345\|RCV003467218;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159733	108159734	NC_000011.9:g.108159737dup	ClinGen:CA298026	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4139A>G (p.His1380Arg)	472	ATM	Uncertain significance	2082640431	RCV001238177;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159733	108159733	11:g.108159733A>G	-
NM_000051.4(ATM):c.4141T>C (p.Phe1381Leu)	472	ATM	Uncertain significance	1555096841	RCV000556081\|RCV001021942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159735	108159735	NC_000011.9:g.108159735T>C	ClinGen:CA382529919	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4143T>G (p.Phe1381Leu)	472	ATM	Uncertain significance	2082640762	RCV001301787;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159737	108159737	108159737	-
NM_000051.4(ATM):c.4144C>T (p.Pro1382Ser)	472	ATM	Uncertain significance	55859590	RCV000200693\|RCV002327049;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159738	108159738	NC_000011.9:g.108159738C>T	ClinGen:CA339483,UniProtKB:Q13315#VAR_041563	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4145C>T (p.Pro1382Leu)	472	ATM	Conflicting interpretations of pathogenicity	752460436	RCV000217705\|RCV000779766\|RCV000805982;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159739	108159739	11:g.108159739C>T	ClinGen:CA6265409	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4146A>G (p.Pro1382=)	472	ATM	Benign/Likely benign	147738621	RCV000164394\|RCV000430255\|RCV000456991\|RCV002225481\|RCV003316021;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,O	11	108159740	108159740	11:g.108159740A>G	ClinGen:CA190848	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4146A>C (p.Pro1382=)	472	ATM	Likely benign	-1	RCV002852974;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159740	108159740		-
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu)	472	ATM	Conflicting interpretations of pathogenicity	141087784	RCV000115187\|RCV000212009\|RCV000459643\|RCV000780883\|RCV001354350\|RCV002251983\|RCV003474711;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:2	11	108159742	108159742	NC_000011.9:g.108159742C>T	ClinGen:CA286831	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4148C>A (p.Ser1383Ter)	472	ATM	Pathogenic/Likely pathogenic	141087784	RCV000668716\|RCV001021947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159742	108159742	11:g.108159742C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4149G>A (p.Ser1383=)	472	ATM	Likely benign	749180334	RCV000162830\|RCV000431307\|RCV000527562\|RCV001721032;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108159743	108159743	11:g.108159743G>A	ClinGen:CA187047	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4149G>T (p.Ser1383=)	472	ATM	Likely benign	749180334	RCV002109398;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159743	108159743	108159743	-
NM_000051.4(ATM):c.4150C>A (p.His1384Asn)	472	ATM	Uncertain significance	876660576	RCV000218137\|RCV001242525;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159744	108159744	11:g.108159744C>A	ClinGen:CA10579135	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4150C>T (p.His1384Tyr)	472	ATM	Uncertain significance	876660576	RCV001046686\|RCV002327294\|RCV003467747;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159744	108159744	11:g.108159744C>T	-
NM_000051.4(ATM):c.4151A>G (p.His1384Arg)	472	ATM	Uncertain significance	757172522	RCV000221533\|RCV000709181;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159745	108159745	11:g.108159745A>G	ClinGen:CA6265410	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4151A>C (p.His1384Pro)	472	ATM	Uncertain significance	757172522	RCV000563521\|RCV000679120\|RCV000704112;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159745	108159745	11:g.108159745A>C	ClinGen:CA16619174	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4152T>C (p.His1384=)	472	ATM	Likely benign	1555096888	RCV000569922\|RCV001402435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159746	108159746	11:g.108159746T>C	ClinGen:CA476673696	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4153G>T (p.Val1385Leu)	472	ATM	Uncertain significance	1064794484	RCV000485967\|RCV000565405\|RCV000628165\|RCV003323563;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108159747	108159747	11:g.108159747G>T	ClinGen:CA16619175	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4155G>A (p.Val1385=)	472	ATM	Likely benign	2082641997	RCV002095417\|RCV002331721;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159749	108159749	108159749	-
NM_000051.4(ATM):c.4158T>G (p.Ile1386Met)	472	ATM	Uncertain significance	879254026	RCV000236693\|RCV000628106\|RCV002327158;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159752	108159752	NC_000011.9:g.108159752T>G	ClinGen:CA10584342	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4158_4175delinsC (p.Lys1387fs)	472	ATM	Pathogenic	2082642299	RCV001239297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159752	108159769	11:g.108159753_108159769del	-
NM_000051.4(ATM):c.4159A>T (p.Lys1387Ter)	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002333293\|RCV003102530\|RCV003464462;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159753	108159753	108159753	-
NM_000051.4(ATM):c.4162G>A (p.Ala1388Thr)	472	ATM	Uncertain significance	1555096903	RCV000552510\|RCV002329247;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159756	108159756	NC_000011.9:g.108159756G>A	ClinGen:CA382530071	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4162G>T (p.Ala1388Ser)	472	ATM	Uncertain significance	1555096903	RCV001050974;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159756	108159756	11:g.108159756G>T	-
NM_000051.4(ATM):c.4162G>C (p.Ala1388Pro)	472	ATM	Uncertain significance	1555096903	RCV001990864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159756	108159756	108159756	-
NM_000051.4(ATM):c.4163C>G (p.Ala1388Gly)	472	ATM	Uncertain significance	1555096908	RCV000628200\|RCV002331098\|RCV003465378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159757	108159757	NC_000011.9:g.108159757C>G	ClinGen:CA382530077	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4165A>G (p.Thr1389Ala)	472	ATM	Uncertain significance	1591660534	RCV000803546;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159759	108159759	11:g.108159759A>G	-
NM_000051.4(ATM):c.4166_4210del (p.Thr1389_Ser1403del)	472	ATM	Uncertain significance	2135752050	RCV001884008;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159759	108159803	108159758	-
NM_000051.4(ATM):c.4166C>T (p.Thr1389Ile)	472	ATM	Uncertain significance	2082642834	RCV001207307;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159760	108159760	11:g.108159760C>T	-
NM_000051.4(ATM):c.4167A>G (p.Thr1389=)	472	ATM	Benign/Likely benign	183214437	RCV000123745\|RCV000212010\|RCV000988683\|RCV003390810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108159761	108159761	11:g.108159761A>G	ClinGen:CA289565	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4171G>A (p.Ala1391Thr)	472	ATM	Uncertain significance	2135752151	RCV001883153\|RCV002331387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159765	108159765	108159765	-
NM_000051.4(ATM):c.4172C>T (p.Ala1391Val)	472	ATM	Uncertain significance	1591660560	RCV000822623\|RCV001766744\|RCV002256550;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159766	108159766	11:g.108159766C>T	-
NM_000051.4(ATM):c.4172C>A (p.Ala1391Asp)	472	ATM	Uncertain significance	1591660560	RCV001871238;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159766	108159766	108159766	-
NM_000051.4(ATM):c.4173del (p.Tyr1392fs)	472	ATM	Pathogenic	-1	RCV002876685;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159766	108159766	NC_000011.9:g.108159767del	-
NM_000051.4(ATM):c.4173C>T (p.Ala1391=)	472	ATM	Likely benign	1060504284	RCV001402761;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159767	108159767	NC_000011.9:g.108159767C>T	ClinGen:CA16613419	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4173C>G (p.Ala1391=)	472	ATM	Likely benign	1060504284	RCV000606107\|RCV000772683\|RCV001408632;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159767	108159767	11:g.108159767C>G	ClinGen:CA476673708	CN169374 not specified;
NM_000051.4(ATM):c.4175A>G (p.Tyr1392Cys)	472	ATM	Uncertain significance	876658239	RCV000216330\|RCV001208789;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159769	108159769	11:g.108159769A>G	ClinGen:CA10579136	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4175A>T (p.Tyr1392Phe)	472	ATM	Uncertain significance	876658239	RCV001897767;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159769	108159769	108159769	-
NM_000051.4(ATM):c.4177A>C (p.Ile1393Leu)	472	ATM	Uncertain significance	1565455097	RCV000692968\|RCV003163162;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159771	108159771	11:g.108159771A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4179C>A (p.Ile1393=)	472	ATM	Benign/Likely benign	775688446	RCV000223265\|RCV000459167\|RCV001818519\|RCV001640341;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108159773	108159773	11:g.108159773C>A	ClinGen:CA6265413	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4179C>T (p.Ile1393=)	472	ATM	Likely benign	775688446	RCV000564696\|RCV002527971;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159773	108159773	NC_000011.9:g.108159773C>T	ClinGen:CA476673712	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4179C>G (p.Ile1393Met)	472	ATM	Uncertain significance	775688446	RCV000773746\|RCV000994706\|RCV001243938;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159773	108159773	NC_000011.9:g.108159773C>G	-
NM_000051.4(ATM):c.4184A>G (p.Asn1395Ser)	472	ATM	Uncertain significance	375396787	RCV000531934\|RCV000777907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159778	108159778	11:g.108159778A>G	ClinGen:CA228374758	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4185T>C (p.Asn1395=)	472	ATM	Likely benign	2135752553	RCV001397405\|RCV002329422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159779	108159779	108159779	-
NM_000051.4(ATM):c.4188T>C (p.Cys1396=)	472	ATM	Likely benign	1565455129	RCV000773817\|RCV002067278;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159782	108159782	NC_000011.9:g.108159782T>C	-
NM_000051.4(ATM):c.4189dup (p.His1397fs)	472	ATM	Pathogenic	2082644891	RCV001233673\|RCV002327562;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159782	108159783	11:g.108159782_108159783insC	-
NM_000051.4(ATM):c.4188_4189del (p.Cys1396_His1397delinsTer)	472	ATM	Pathogenic	2135752682	RCV001388900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159782	108159783	108159781	-
NM_000051.4(ATM):c.4194A>T (p.Lys1398Asn)	472	ATM	Uncertain significance	1565455145	RCV000702219;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159788	108159788	11:g.108159788A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4195A>T (p.Thr1399Ser)	472	ATM	Uncertain significance	1555096955	RCV000552264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159789	108159789	NC_000011.9:g.108159789A>T	ClinGen:CA382530327	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4195A>G (p.Thr1399Ala)	472	ATM	Uncertain significance	1555096955	RCV000570585\|RCV001321537;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159789	108159789	NC_000011.9:g.108159789A>G	ClinGen:CA382530329	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4196C>A (p.Thr1399Asn)	472	ATM	Uncertain significance	786203761	RCV000167207\|RCV000197099\|RCV000483065\|RCV003468800;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159790	108159790	11:g.108159790C>A	ClinGen:CA197737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4196C>G (p.Thr1399Ser)	472	ATM	Uncertain significance	786203761	RCV000215942\|RCV000473821\|RCV000486909\|RCV003462488;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159790	108159790	11:g.108159790C>G	ClinGen:CA10579137	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4196C>T (p.Thr1399Ile)	472	ATM	Uncertain significance	786203761	RCV001304721;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159790	108159790	108159790	-
NM_000051.4(ATM):c.4197C>T (p.Thr1399=)	472	ATM	Likely benign	2135752951	RCV001393451;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159791	108159791	108159791	-
NM_000051.4(ATM):c.4198A>T (p.Lys1400Ter)	472	ATM	Pathogenic	587781950	RCV000130320\|RCV000204266\|RCV000483525\|RCV003460920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159792	108159792	11:g.108159792A>T	ClinGen:CA166177	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4201T>A (p.Leu1401Ile)	472	ATM	Uncertain significance	587779838	RCV000115188\|RCV000468550\|RCV000568754;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159795	108159795	NC_000011.9:g.108159795T>A	ClinGen:CA286834	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4202T>A (p.Leu1401Ter)	472	ATM	Pathogenic	1555096975	RCV000628046;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159796	108159796	11:g.108159796T>A	ClinGen:CA382530357	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4206A>C (p.Lys1402Asn)	472	ATM	Uncertain significance	2135753163	RCV002026881;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159800	108159800	108159800	-
NM_000051.4(ATM):c.4206A>G (p.Lys1402=)	472	ATM	Likely benign	-1	RCV002942184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159800	108159800		-
NM_000051.4(ATM):c.4209C>T (p.Ser1403=)	472	ATM	Likely benign	876658701	RCV000222085\|RCV003114385;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159803	108159803	11:g.108159803C>T	ClinGen:CA10579138	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4209C>A (p.Ser1403Arg)	472	ATM	Uncertain significance	876658701	RCV002039236;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159803	108159803	108159803	-
NM_000051.4(ATM):c.4210A>G (p.Ile1404Val)	472	ATM	Uncertain significance	786201832	RCV000164320\|RCV000702252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159804	108159804	11:g.108159804A>G	ClinGen:CA190626	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4214del (p.Ile1404_Leu1405insTer)	472	ATM	Pathogenic	2082646632	RCV001229284;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159805	108159805	11:g.108159805_108159805del	-
NM_000051.4(ATM):c.4219A>G (p.Ile1407Val)	472	ATM	Uncertain significance	1382006540	RCV000706773\|RCV002332511;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159813	108159813	NC_000011.9:g.108159813A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4222C>T (p.Leu1408Phe)	472	ATM	Uncertain significance	1565455224	RCV000771410\|RCV000797347;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159816	108159816	NC_000011.9:g.108159816C>T	-
NM_000051.4(ATM):c.4222_4236+5del	472	ATM	Pathogenic	2135753552	RCV001386286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159816	108159835	108159815	-
NM_000051.4(ATM):c.4225del (p.Ser1409fs)	472	ATM	Pathogenic	2082647388	RCV001059815\|RCV002327331;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159817	108159817	11:g.108159817_108159817del	-
NM_000051.4(ATM):c.4227del (p.Ser1411fs)	472	ATM	Pathogenic/Likely pathogenic	587782054	RCV000130524\|RCV000802357\|RCV002286704\|RCV002288639;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159820	108159820	NC_000011.9:g.108159821del	ClinGen:CA166590	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4227C>T (p.Ser1409=)	472	ATM	Likely benign	1555097018	RCV001442652;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159821	108159821	NC_000011.9:g.108159821C>T	ClinGen:CA476673737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4227C>G (p.Ser1409=)	472	ATM	Likely benign	1555097018	RCV001394226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159821	108159821	108159821	-
NM_000051.4(ATM):c.4231del (p.Ser1411fs)	472	ATM	Pathogenic	-1	RCV003015150;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159822	108159822	NC_000011.9:g.108159825del	-
NM_000051.4(ATM):c.4229A>G (p.Lys1410Arg)	472	ATM	Uncertain significance	2082647905	RCV001239192\|RCV001806073;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108159823	108159823	11:g.108159823A>G	-
NM_000051.4(ATM):c.4232G>C (p.Ser1411Thr)	472	ATM	Uncertain significance	2135753735	RCV001901233;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159826	108159826	108159826	-
NM_000051.4(ATM):c.4234C>T (p.Pro1412Ser)	472	ATM	Uncertain significance	1591660899	RCV000798131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159828	108159828	11:g.108159828C>T	-
NM_000051.4(ATM):c.4235C>T (p.Pro1412Leu)	472	ATM	Uncertain significance	776581499	RCV000346967\|RCV000574537\|RCV000763702\|RCV002274010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108159829	108159829	NC_000011.9:g.108159829C>T	ClinGen:CA6265416	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4236T>G (p.Pro1412=)	472	ATM	Uncertain significance	1326629661	RCV001343907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159830	108159830	108159830	-
NM_000051.4(ATM):c.4236del (p.Asp1413fs)	472	ATM	Pathogenic	1565455297	RCV001872611\|RCV003452043;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159830	108159830	108159829	-
NM_000051.4(ATM):c.4236+1_4236+2del	472	ATM	Likely pathogenic	2135753954	RCV001966922\|RCV003316858;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108159830	108159831	108159829	-
NM_000051.4(ATM):c.4236+1G>T	472	ATM	Likely pathogenic	876660674	RCV000220335\|RCV000628077\|RCV002469081;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0023122,MedGen:C2931456, Orphanet:1331	11	108159831	108159831	11:g.108159831G>T	ClinGen:CA10579139	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4236+2_4236+3insCT	472	ATM	Uncertain significance	1185729358	RCV000798512\|RCV003321741;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108159831	108159832	11:g.108159831_108159832insTC	-
NM_000051.4(ATM):c.4236+1del	472	ATM	Likely pathogenic	2135753984	RCV001964157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159831	108159831	108159830	-
NM_000051.4(ATM):c.4236+1G>A	472	ATM	Likely pathogenic	-1	RCV002872727;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159831	108159831	NC_000011.9:g.108159831G>A	-
NM_000051.4(ATM):c.4236+1G>C	472	ATM	Likely pathogenic	-1	RCV003029584;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159831	108159831	NC_000011.9:g.108159831G>C	-
NM_000051.4(ATM):c.4236+2T>A	472	ATM	Likely pathogenic	1229926683	RCV001053047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159832	108159832	11:g.108159832T>A	-
NM_000051.4(ATM):c.4236+5G>A	472	ATM	Uncertain significance	1441281768	RCV000700422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159835	108159835	11:g.108159835G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4236+7A>G	472	ATM	Likely benign	1207435429	RCV000581399\|RCV000988684;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159837	108159837	11:g.108159837A>G	ClinGen:CA658683113	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4236+8T>C	472	ATM	Likely benign	765636697	RCV000197830\|RCV001290688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108159838	108159838	NC_000011.9:g.108159838T>C	ClinGen:CA337480	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4236+9dup	472	ATM	Likely benign	2135754201	RCV002160388;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159838	108159839	108159838	-
NM_000051.4(ATM):c.4236+9A>G	472	ATM	Conflicting interpretations of pathogenicity	1591661022	RCV000944656\|RCV001260311;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108159839	108159839	11:g.108159839A>G	-
NM_000051.4(ATM):c.4236+10C>T	472	ATM	Likely benign	2135754219	RCV002170515;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159840	108159840	108159840	-
NM_000051.4(ATM):c.4236+11A>G	472	ATM	Benign/Likely benign	368684533	RCV000431131\|RCV000582072\|RCV002061602;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159841	108159841	11:g.108159841A>G	ClinGen:CA6265418	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4236+12T>C	472	ATM	Likely benign	369996463	RCV000583521\|RCV002060599;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159842	108159842	11:g.108159842T>C	ClinGen:CA228374868	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4236+13G>C	472	ATM	Likely benign	2135754357	RCV002102458;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159843	108159843	108159843	-
NM_000051.4(ATM):c.4236+16G>A	472	ATM	Likely benign	2135754395	RCV002078221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159846	108159846	108159846	-
NM_000051.4(ATM):c.4236+17A>T	472	ATM	Likely benign	-1	RCV003043814;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159847	108159847	NC_000011.9:g.108159847A>T	-
NM_000051.4(ATM):c.4236+18G>A	472	ATM	Likely benign	-1	RCV003032690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108159848	108159848	NC_000011.9:g.108159848G>A	-
NM_000051.4(ATM):c.4237-71A>G	472	ATM	Likely benign	45547832	RCV001403177;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160258	108160258	108160258	-
NC_000011.10:g.(?_108289582)_(108289821_?)del	472	ATM	Pathogenic	-1	RCV000798159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160309	108160548		-
NM_000051.4(ATM):c.4237-20T>C	472	ATM	Likely benign	2135758679	RCV002142630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160309	108160309	108160309	-
NM_000051.4(ATM):c.4237-19A>C	472	ATM	Likely benign	753311330	RCV000432793\|RCV000776273\|RCV001429137;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160310	108160310	11:g.108160310A>C	ClinGen:CA16605787	CN169374 not specified;
NM_000051.4(ATM):c.4237-19A>G	472	ATM	Likely benign	753311330	RCV001176510\|RCV002558819;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160310	108160310	11:g.108160310A>G	-
NM_000051.4(ATM):c.4237-18_4237-17del	472	ATM	Likely benign	-1	RCV002949722;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160310	108160311	NC_000011.9:g.108160311_108160312del	-
NM_000051.4(ATM):c.4237-18A>G	472	ATM	Likely benign	756842639	RCV002104746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160311	108160311	108160311	-
NM_000051.4(ATM):c.4237-18A>C	472	ATM	Likely benign	756842639	RCV002207804;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160311	108160311	108160311	-
NM_000051.4(ATM):c.4237-16T>A	472	ATM	Likely benign	-1	RCV002741784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160313	108160313	NC_000011.9:g.108160313T>A	-
NM_000051.4(ATM):c.4237-16T>C	472	ATM	Likely benign	-1	RCV002967566;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160313	108160313	NC_000011.9:g.108160313T>C	-
NM_000051.4(ATM):c.4237-13_4237-12del	472	ATM	Likely benign	1555097353	RCV000582827\|RCV002529187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160315	108160316	NC_000011.9:g.108160316_108160317del	ClinGen:CA658683115	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4237-13G>A	472	ATM	Likely benign	778685615	RCV000613138\|RCV002528624;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160316	108160316	11:g.108160316G>A	ClinGen:CA6265427	CN169374 not specified;
NM_000051.4(ATM):c.4237-12T>C	472	ATM	Likely benign	-1	RCV003020550;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160317	108160317	NC_000011.9:g.108160317T>C	-
NM_000051.4(ATM):c.4237-9_4237-7del	472	ATM	Conflicting interpretations of pathogenicity	1555097355	RCV000601860\|RCV000798461;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160318	108160320	NC_000011.9:g.108160320_108160322del	ClinGen:CA658795363	CN169374 not specified;
NC_000011.10:g.(?_108289592)_(108289811_?)del	472	ATM	Pathogenic	-1	RCV000821293;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160319	108160538		-
NM_000051.4(ATM):c.4237-10T>C	472	ATM	Likely benign	1312684854	RCV002204188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160319	108160319	108160319	-
NM_000051.4(ATM):c.4237-8T>C	472	ATM	Conflicting interpretations of pathogenicity	750427647	RCV000581253\|RCV000628247\|RCV000842153;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108160321	108160321	NC_000011.9:g.108160321T>C	ClinGen:CA6265428	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4237-8T>G	472	ATM	Uncertain significance	750427647	RCV002041062;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160321	108160321	108160321	-
NM_000051.4(ATM):c.4237-8T>A	472	ATM	Likely benign	-1	RCV003042465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160321	108160321	NC_000011.9:g.108160321T>A	-
NM_000051.4(ATM):c.4237-7T>C	472	ATM	Likely benign	1439775115	RCV000583409\|RCV001423546;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160322	108160322	11:g.108160322T>C	ClinGen:CA658683116	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4237-2A>G	472	ATM	Conflicting interpretations of pathogenicity	1591662492	RCV000815087\|RCV003362973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160327	108160327	11:g.108160327A>G	-
NC_000011.10:g.(?_108289602)_(108289801_?)del	472	ATM	Pathogenic	-1	RCV000476888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160329	108160528		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4237G>A (p.Asp1413Asn)	472	ATM	Uncertain significance	1337392659	RCV000571903\|RCV000824084;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160329	108160329	NC_000011.9:g.108160329G>A	ClinGen:CA382530921	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4237G>T (p.Asp1413Tyr)	472	ATM	Uncertain significance	1337392659	RCV000574514\|RCV000627904\|RCV003128661;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108160329	108160329	11:g.108160329G>T	ClinGen:CA382530923	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4238A>T (p.Asp1413Val)	472	ATM	Uncertain significance	-1	RCV003074126;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160330	108160330	NC_000011.9:g.108160330A>T	-
NM_000051.4(ATM):c.4239T>C (p.Asp1413=)	472	ATM	Likely benign	1565455938	RCV000772471\|RCV001355062\|RCV001414783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160331	108160331	NC_000011.9:g.108160331T>C	-
NM_000051.4(ATM):c.4242C>T (p.Ser1414=)	472	ATM	Likely benign	2135759239	RCV002156894;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160334	108160334	108160334	-
NM_000051.4(ATM):c.4244A>G (p.Tyr1415Cys)	472	ATM	Uncertain significance	876660540	RCV000222642\|RCV000685986\|RCV002247664;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108160336	108160336	11:g.108160336A>G	ClinGen:CA10579141	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4246C>T (p.Gln1416Ter)	472	ATM	Likely pathogenic	1057516311	RCV000411659;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160338	108160338	NC_000011.9:g.108160338C>T	ClinGen:CA16041410	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4247A>G (p.Gln1416Arg)	472	ATM	Uncertain significance	758180727	RCV000221314\|RCV000532818\|RCV001354664;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108160339	108160339	11:g.108160339A>G	ClinGen:CA6265429	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4248G>A (p.Gln1416=)	472	ATM	Likely benign	1233637041	RCV000937911;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160340	108160340	11:g.108160340G>A	-
NM_000051.4(ATM):c.4255CTT[1] (p.Leu1420del)	472	ATM	Uncertain significance	876659842	RCV000214940\|RCV000460565\|RCV003469057;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160345	108160347	11:g.108160345_108160347del	ClinGen:CA10579142	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4256T>C (p.Leu1419Pro)	472	ATM	Uncertain significance	1060501622	RCV000458858\|RCV000562169\|RCV002282152\|RCV003470426;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160348	108160348	NC_000011.9:g.108160348T>C	ClinGen:CA16613139	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4257T>G (p.Leu1419=)	472	ATM	Likely benign	-1	RCV002852738;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160349	108160349		-
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe)	472	ATM	Benign/Likely benign	1800058	RCV000116425\|RCV000119139\|RCV000130979\|RCV001357258\|RCV001795159\|RCV001798368\|RCV002225336;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C06	11	108160350	108160350	11:g.108160350C>T	ClinGen:CA248696,UniProtKB:Q13315#VAR_010822	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4260T>C (p.Leu1420=)	472	ATM	Likely benign	2135759675	RCV002215613;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160352	108160352	108160352	-
NM_000051.4(ATM):c.4261G>A (p.Ala1421Thr)	472	ATM	Uncertain significance	1555097395	RCV000580037\|RCV001302463;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160353	108160353	NC_000011.9:g.108160353G>A	ClinGen:CA382531155	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4263C>T (p.Ala1421=)	472	ATM	Likely benign	1373073134	RCV000628230\|RCV001022172;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160355	108160355	11:g.108160355C>T	ClinGen:CA476673836	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4264A>G (p.Ile1422Val)	472	ATM	Uncertain significance	562445932	RCV000557705\|RCV000777908\|RCV003464119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160356	108160356	11:g.108160356A>G	ClinGen:CA6265430	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4264A>T (p.Ile1422Leu)	472	ATM	Uncertain significance	562445932	RCV002029185\|RCV002331627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160356	108160356	108160356	-
NM_000051.4(ATM):c.4265T>C (p.Ile1422Thr)	472	ATM	Uncertain significance	876659764	RCV000220936\|RCV000797213\|RCV003462497;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160357	108160357	11:g.108160357T>C	ClinGen:CA10579143	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4265T>A (p.Ile1422Lys)	472	ATM	Uncertain significance	-1	RCV002834248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160357	108160357	NC_000011.9:g.108160357T>A	-
NM_000051.4(ATM):c.4266A>G (p.Ile1422Met)	472	ATM	Uncertain significance	768794637	RCV001915289;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160358	108160358	108160358	-
NM_000051.4(ATM):c.4267T>C (p.Cys1423Arg)	472	ATM	Uncertain significance	587782442	RCV000131507\|RCV000477646;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160359	108160359	11:g.108160359T>C	ClinGen:CA168256	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4267T>A (p.Cys1423Ser)	472	ATM	Uncertain significance	587782442	RCV000569210\|RCV000796398\|RCV003465229;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160359	108160359	NC_000011.9:g.108160359T>A	ClinGen:CA382531208	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4274A>G (p.Gln1425Arg)	472	ATM	Uncertain significance	2082671727	RCV001325374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160366	108160366	108160366	-
NM_000051.4(ATM):c.4278A>G (p.Ala1426=)	472	ATM	Likely benign	2135760176	RCV001429509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160370	108160370	108160370	-
NM_000051.4(ATM):c.4279G>A (p.Ala1427Thr)	472	ATM	Conflicting interpretations of pathogenicity	2229021	RCV000130581\|RCV000222514\|RCV000467455\|RCV001257474\|RCV002225432\|RCV002307403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	11	108160371	108160371	11:g.108160371G>A	ClinGen:CA166697,UniProtKB:Q13315#VAR_056685	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4280del (p.Ala1427fs)	472	ATM	Pathogenic	1591662758	RCV000822998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160372	108160372	11:g.108160372_108160372del	-
NM_000051.4(ATM):c.4281T>C (p.Ala1427=)	472	ATM	Likely benign	876659745	RCV000218180\|RCV002057204;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160373	108160373	11:g.108160373T>C	ClinGen:CA10579144	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4282del (p.Glu1428fs)	472	ATM	Pathogenic	2082672268	RCV001038727;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160374	108160374	11:g.108160374_108160374del	-
NM_000051.4(ATM):c.4282G>A (p.Glu1428Lys)	472	ATM	Uncertain significance	1369272813	RCV001965406\|RCV002290808\|RCV002331498;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160374	108160374	108160374	-
NM_000051.4(ATM):c.4287A>G (p.Thr1429=)	472	ATM	Likely benign	1591662793	RCV001190363\|RCV001279126;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160379	108160379	11:g.108160379A>G	-
NM_000051.4(ATM):c.4289_4292del (p.Asn1430fs)	472	ATM	Likely pathogenic	2135760623	RCV001779469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160379	108160382	108160378	-
NM_000051.4(ATM):c.4290T>C (p.Asn1430=)	472	ATM	Likely benign	1431970078	RCV001464171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160382	108160382	108160382	-
NM_000051.4(ATM):c.4291A>C (p.Asn1431His)	472	ATM	Uncertain significance	748144169	RCV000779785\|RCV001344553;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160383	108160383	NC_000011.9:g.108160383A>C	-
NM_000051.4(ATM):c.4292A>G (p.Asn1431Ser)	472	ATM	Uncertain significance	201356803	RCV000463958\|RCV002257709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160384	108160384	NC_000011.9:g.108160384A>G	ClinGen:CA16613045	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4293T>C (p.Asn1431=)	472	ATM	Likely benign	-1	RCV002806864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160385	108160385		-
NM_000051.4(ATM):c.4294G>A (p.Val1432Ile)	472	ATM	Uncertain significance	-1	RCV002296521;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160386	108160386	108160386	-
NM_000051.4(ATM):c.4295T>G (p.Val1432Gly)	472	ATM	Uncertain significance	1131691150	RCV000493420\|RCV000533762;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160387	108160387	11:g.108160387T>G	ClinGen:CA382531517	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4297T>G (p.Tyr1433Asp)	472	ATM	Uncertain significance	876659559	RCV000213430\|RCV000628110;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160389	108160389	11:g.108160389T>G	ClinGen:CA10579146	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4299T>C (p.Tyr1433=)	472	ATM	Conflicting interpretations of pathogenicity	886047612	RCV000407516\|RCV000561705;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160391	108160391	NC_000011.9:g.108160391T>C	ClinGen:CA10637003	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4301A>G (p.Lys1434Arg)	472	ATM	Uncertain significance	-1	RCV003012584\|RCV003465893;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160393	108160393	NC_000011.9:g.108160393A>G	-
NM_000051.4(ATM):c.4302G>A (p.Lys1434=)	472	ATM	Likely benign	876658751	RCV000218223\|RCV002518279;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160394	108160394	NC_000011.9:g.108160394G>A	ClinGen:CA10579147	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4302G>C (p.Lys1434Asn)	472	ATM	Uncertain significance	876658751	RCV001929707;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160394	108160394	108160394	-
NM_000051.4(ATM):c.4303A>C (p.Lys1435Gln)	472	ATM	Uncertain significance	876660964	RCV000216209\|RCV000562594\|RCV000704673;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160395	108160395	NC_000011.9:g.108160395A>C	ClinGen:CA10577427	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4303A>T (p.Lys1435Ter)	472	ATM	Pathogenic	876660964	RCV000519120\|RCV001203850;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160395	108160395	11:g.108160395A>T	ClinGen:CA382531617	CN517202 not provided;
NM_000051.4(ATM):c.4303_4304insTT (p.Lys1435fs)	472	ATM	Pathogenic	2082673829	RCV001051182;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160395	108160396	11:g.108160395_108160396insTT	-
NM_000051.4(ATM):c.4304A>C (p.Lys1435Thr)	472	ATM	Conflicting interpretations of pathogenicity	769980220	RCV000168111\|RCV000220668\|RCV000478130\|RCV000780906\|RCV003468825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160396	108160396	NC_000011.9:g.108160396A>C	ClinGen:CA334280	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4304A>G (p.Lys1435Arg)	472	ATM	Uncertain significance	769980220	RCV000567537\|RCV000627974\|RCV000780898;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108160396	108160396	NC_000011.9:g.108160396A>G	ClinGen:CA6265433	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4305G>A (p.Lys1435=)	472	ATM	Likely benign	763567469	RCV001443117\|RCV002332903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160397	108160397	11:g.108160397G>A	-
NM_000051.4(ATM):c.4306C>T (p.His1436Tyr)	472	ATM	Uncertain significance	544891616	RCV000167350\|RCV000229724\|RCV001539145\|RCV003468810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160398	108160398	11:g.108160398C>T	ClinGen:CA198067	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4307A>G (p.His1436Arg)	472	ATM	Uncertain significance	940104361	RCV000559779\|RCV001192153\|RCV001577913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108160399	108160399	NC_000011.9:g.108160399A>G	ClinGen:CA228375273	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4308C>T (p.His1436=)	472	ATM	Likely benign	1591662977	RCV001409169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160400	108160400	11:g.108160400C>T	-
NM_000051.4(ATM):c.4310G>A (p.Arg1437Lys)	472	ATM	Uncertain significance	1227046364	RCV000666193\|RCV002331304;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160402	108160402	11:g.108160402G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4311A>T (p.Arg1437Ser)	472	ATM	Uncertain significance	1555097507	RCV000627929\|RCV001022268\|RCV001532956;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108160403	108160403	11:g.108160403A>T	ClinGen:CA382531717	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4311A>G (p.Arg1437=)	472	ATM	Likely benign	1555097507	RCV002195620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160403	108160403	108160403	-
NM_000051.4(ATM):c.4313T>C (p.Ile1438Thr)	472	ATM	Uncertain significance	-1	RCV002331987\|RCV003155476\|RCV003094642;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160405	108160405	108160405	-
NM_000051.4(ATM):c.4316T>A (p.Leu1439His)	472	ATM	Uncertain significance	1591663032	RCV000795458;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160408	108160408	11:g.108160408T>A	-
NM_000051.4(ATM):c.4316T>C (p.Leu1439Pro)	472	ATM	Uncertain significance	1591663032	RCV000818762;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160408	108160408	11:g.108160408T>C	-
NM_000051.4(ATM):c.4317T>G (p.Leu1439=)	472	ATM	Likely benign	2135761736	RCV002157148;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160409	108160409	108160409	-
NM_000051.4(ATM):c.4318A>T (p.Lys1440Ter)	472	ATM	Pathogenic/Likely pathogenic	1060501551	RCV000464318\|RCV000657607\|RCV001022283;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160410	108160410	NC_000011.9:g.108160410A>T	ClinGen:CA16613046	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4320A>T (p.Lys1440Asn)	472	ATM	Uncertain significance	2082675235	RCV001040737;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160412	108160412	11:g.108160412A>T	-
NM_000051.4(ATM):c.4321A>C (p.Ile1441Leu)	472	ATM	Uncertain significance	774886013	RCV000548258\|RCV000581990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160413	108160413	11:g.108160413A>C	ClinGen:CA6265435	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4321A>G (p.Ile1441Val)	472	ATM	Uncertain significance	774886013	RCV000582990\|RCV001036202\|RCV003151107\|RCV003465301;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160413	108160413	NC_000011.9:g.108160413A>G	ClinGen:CA382531821	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4322T>C (p.Ile1441Thr)	472	ATM	Uncertain significance	1469317936	RCV001022294\|RCV001299773\|RCV001759709;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108160414	108160414	11:g.108160414T>C	-
NM_000051.4(ATM):c.4323A>G (p.Ile1441Met)	472	ATM	Uncertain significance	587779839	RCV000115189\|RCV000777909\|RCV000685464;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160415	108160415	NC_000011.9:g.108160415A>G	ClinGen:CA286837	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4323A>T (p.Ile1441=)	472	ATM	Likely benign	587779839	RCV000572897\|RCV000628277;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160415	108160415	NC_000011.9:g.108160415A>T	ClinGen:CA476673918	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His)	472	ATM	Conflicting interpretations of pathogenicity	201666889	RCV000115190\|RCV000168302\|RCV000515173\|RCV000586538\|RCV000855627\|RCV001355810\|RCV001257491\|RCV003149793\|RCV003389685;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108160416	108160416	NC_000011.9:g.108160416T>C	ClinGen:CA286840	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4325dup (p.Tyr1442Ter)	472	ATM	Pathogenic	2135762072	RCV001934581;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160416	108160417	108160416	-
NM_000051.4(ATM):c.4325A>G (p.Tyr1442Cys)	472	ATM	Uncertain significance	1565456320	RCV001022300\|RCV001315903;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160417	108160417	11:g.108160417A>G	-
NM_000051.4(ATM):c.4327C>T (p.His1443Tyr)	472	ATM	Uncertain significance	1555097538	RCV000528802\|RCV003464120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160419	108160419	11:g.108160419C>T	ClinGen:CA382531879	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4328A>C (p.His1443Pro)	472	ATM	Uncertain significance	-1	RCV003028052;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160420	108160420	NC_000011.9:g.108160420A>C	-
NM_000051.4(ATM):c.4329C>A (p.His1443Gln)	472	ATM	Uncertain significance	377065665	RCV000164709\|RCV000307354\|RCV000521912\|RCV001824649\|RCV003407614\|RCV003467304;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160421	108160421	11:g.108160421C>A	ClinGen:CA191592	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4330_4333delinsTAAAATAAA (p.Leu1444_Phe1445delinsTer)	472	ATM	Pathogenic	1064792938	RCV000473997;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160422	108160425	NC_000011.9:g.108160422_108160425delinsTAAAATAAA	ClinGen:CA16613051	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4331_4332insTTT (p.Leu1444dup)	472	ATM	Uncertain significance	1060501663	RCV000465155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160422	108160423	NC_000011.9:g.108160423_108160424insTTT	ClinGen:CA16613140	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4330C>T (p.Leu1444=)	472	ATM	Likely benign	2135762205	RCV001392984\|RCV002329412;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160422	108160422	108160422	-
NM_000051.4(ATM):c.4331T>A (p.Leu1444Gln)	472	ATM	Uncertain significance	2082676298	RCV001234624\|RCV003284094;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160423	108160423	11:g.108160423T>A	-
NM_000051.4(ATM):c.4335_4338del (p.Phe1445fs)	472	ATM	Pathogenic	2135762355	RCV001975157\|RCV002331535;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160423	108160426	108160422	-
NM_000051.4(ATM):c.4331T>C (p.Leu1444Pro)	472	ATM	Uncertain significance	-1	RCV002304088;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160423	108160423	108160423	-
NM_000051.4(ATM):c.4332G>A (p.Leu1444=)	472	ATM	Likely benign	753570046	RCV000163922\|RCV000458861\|RCV000605689\|RCV001721059;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108160424	108160424	11:g.108160424G>A	ClinGen:CA189525	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4332G>C (p.Leu1444=)	472	ATM	Likely benign	753570046	RCV000457892\|RCV000574294\|RCV001698127;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108160424	108160424	11:g.108160424G>C	ClinGen:CA6265436	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4332del (p.Phe1445fs)	472	ATM	Pathogenic	2135762420	RCV001389194;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160424	108160424	108160423	-
NM_000051.4(ATM):c.4333T>C (p.Phe1445Leu)	472	ATM	Uncertain significance	1060501683	RCV000463652\|RCV000571114\|RCV001559952;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108160425	108160425	NC_000011.9:g.108160425T>C	ClinGen:CA16613352	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4335T>C (p.Phe1445=)	472	ATM	Likely benign	761225071	RCV001430445\|RCV002329114;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160427	108160427	NC_000011.9:g.108160427T>C	ClinGen:CA16613420	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4335T>G (p.Phe1445Leu)	472	ATM	Uncertain significance	-1	RCV003079931\|RCV003358086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160427	108160427	NC_000011.9:g.108160427T>G	-
NM_000051.4(ATM):c.4336G>T (p.Val1446Phe)	472	ATM	Uncertain significance	1060501658	RCV000458330;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160428	108160428	NC_000011.9:g.108160428G>T	ClinGen:CA16613423	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4339_4342del (p.Ser1447fs)	472	ATM	Pathogenic	1591663236	RCV001022315\|RCV001862210\|RCV003160180;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108160428	108160431	11:g.108160428_108160431del	-
NM_000051.4(ATM):c.4336G>A (p.Val1446Ile)	472	ATM	Uncertain significance	1060501658	RCV001051010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160428	108160428	11:g.108160428G>A	-
NM_000051.4(ATM):c.4337T>A (p.Val1446Asp)	472	ATM	Uncertain significance	1591663249	RCV000794287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160429	108160429	11:g.108160429T>A	-
NM_000051.4(ATM):c.4338T>A (p.Val1446=)	472	ATM	Likely benign	2135762761	RCV002133272;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160430	108160430	108160430	-
NM_000051.4(ATM):c.4339A>C (p.Ser1447Arg)	472	ATM	Uncertain significance	-1	RCV003019273;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160431	108160431	NC_000011.9:g.108160431A>C	-
NM_000051.4(ATM):c.4340G>A (p.Ser1447Asn)	472	ATM	Uncertain significance	-1	RCV002615984;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160432	108160432	NC_000011.9:g.108160432G>A	-
NM_000051.4(ATM):c.4341T>A (p.Ser1447Arg)	472	ATM	Uncertain significance	1565456454	RCV001047055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160433	108160433	11:g.108160433T>A	-
NM_000051.4(ATM):c.4344dup (p.Leu1449fs)	472	ATM	Pathogenic	1555097604	RCV000628098;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160435	108160436	11:g.108160435_108160436insA	ClinGen:CA658795364	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4343_4344delinsGTT (p.Leu1448fs)	472	ATM	Pathogenic	1565456465	RCV000687153\|RCV002331329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160435	108160436	11:g.108160435_108160436insTT	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4343T>G (p.Leu1448Ter)	472	ATM	Pathogenic/Likely pathogenic	1591663285	RCV001022328\|RCV002272388\|RCV002551851;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160435	108160435	11:g.108160435T>G	-
NM_000051.4(ATM):c.4343T>A (p.Leu1448Ter)	472	ATM	Pathogenic	1591663285	RCV001939572\|RCV002331529;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160435	108160435	108160435	-
NM_000051.4(ATM):c.4345T>G (p.Leu1449Val)	472	ATM	Uncertain significance	786201555	RCV001903158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160437	108160437	108160437	-
NM_000051.4(ATM):c.4346T>C (p.Leu1449Ser)	472	ATM	Uncertain significance	2082678060	RCV001231527\|RCV002327553;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160438	108160438	11:g.108160438T>C	-
NM_000051.4(ATM):c.4347A>C (p.Leu1449Phe)	472	ATM	Uncertain significance	764787081	RCV000567342\|RCV001235108;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160439	108160439	NC_000011.9:g.108160439A>C	ClinGen:CA6265438	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4347A>G (p.Leu1449=)	472	ATM	Likely benign	-1	RCV002833151;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160439	108160439		-
NM_000051.4(ATM):c.4349T>C (p.Leu1450Pro)	472	ATM	Uncertain significance	750306932	RCV000549198\|RCV002285355\|RCV002329248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160441	108160441	11:g.108160441T>C	ClinGen:CA6265439	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4350G>A (p.Leu1450=)	472	ATM	Likely benign	1565456541	RCV000772712\|RCV001415335;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160442	108160442	NC_000011.9:g.108160442G>A	-
NM_000051.4(ATM):c.4354G>C (p.Asp1452His)	472	ATM	Uncertain significance	1012695949	RCV000574752\|RCV001035132;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160446	108160446	NC_000011.9:g.108160446G>C	ClinGen:CA228375321	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4354G>T (p.Asp1452Tyr)	472	ATM	Uncertain significance	1012695949	RCV001348837;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160446	108160446	108160446	-
NM_000051.4(ATM):c.4354G>A (p.Asp1452Asn)	472	ATM	Uncertain significance	-1	RCV002295148;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160446	108160446	108160446	-
NM_000051.4(ATM):c.4358_4359del (p.Ile1453fs)	472	ATM	Pathogenic/Likely pathogenic	1555097650	RCV000665982\|RCV002331303\|RCV003465445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160447	108160448	11:g.108160447_108160448del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4355A>T (p.Asp1452Val)	472	ATM	Uncertain significance	1565456579	RCV000688012;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160447	108160447	11:g.108160447A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4356T>C (p.Asp1452=)	472	ATM	Likely benign	1283294799	RCV001496356\|RCV002329611;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160448	108160448	108160448	-
NM_000051.4(ATM):c.4358T>G (p.Ile1453Arg)	472	ATM	Uncertain significance	587782126	RCV000130664\|RCV000542166\|RCV003467152;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160450	108160450	11:g.108160450T>G	ClinGen:CA166850	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4358T>C (p.Ile1453Thr)	472	ATM	Uncertain significance	587782126	RCV000482060\|RCV001054691\|RCV001193631\|RCV002329157\|RCV003470580;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160450	108160450	11:g.108160450T>C	ClinGen:CA16619178	CN169374 not specified;
NM_000051.4(ATM):c.4358del (p.Ile1453fs)	472	ATM	Likely pathogenic	2082679287	RCV001825149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160450	108160450	108160449	-
NM_000051.4(ATM):c.4359A>T (p.Ile1453=)	472	ATM	Likely benign	1213190389	RCV001022348\|RCV002067647;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160451	108160451	11:g.108160451A>T	-
NM_000051.4(ATM):c.4363del (p.Ser1455fs)	472	ATM	Pathogenic	1591663478	RCV001022365\|RCV001228009;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160451	108160451	11:g.108160451_108160451del	-
NM_000051.4(ATM):c.4359A>G (p.Ile1453Met)	472	ATM	Uncertain significance	1213190389	RCV001915468;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160451	108160451	108160451	-
NM_000051.4(ATM):c.4361A>G (p.Lys1454Arg)	472	ATM	Uncertain significance	1451928082	RCV000561036\|RCV000628174\|RCV001269098\|RCV003465217;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160453	108160453	NC_000011.9:g.108160453A>G	ClinGen:CA382532047	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn)	472	ATM	Conflicting interpretations of pathogenicity	148993589	RCV000115191\|RCV000212012\|RCV001080906\|RCV001257478\|RCV001193007;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374	11	108160454	108160454	NC_000011.9:g.108160454A>C	ClinGen:CA286843,UniProtKB:Q13315#VAR_010824	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4362A>G (p.Lys1454=)	472	ATM	Likely benign	148993589	RCV002140133;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160454	108160454	108160454	-
NM_000051.4(ATM):c.4363A>C (p.Ser1455Arg)	472	ATM	Benign	2135763861	RCV002116295;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160455	108160455	108160455	-
NM_000051.4(ATM):c.4364G>C (p.Ser1455Thr)	472	ATM	Uncertain significance	2082679943	RCV001068999;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160456	108160456	11:g.108160456G>C	-
NM_000051.4(ATM):c.4365T>A (p.Ser1455Arg)	472	ATM	Conflicting interpretations of pathogenicity	527471560	RCV000165552\|RCV000232578\|RCV000780910\|RCV001030530\|RCV001589033;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900	11	108160457	108160457	11:g.108160457T>A	ClinGen:CA193670	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4365T>C (p.Ser1455=)	472	ATM	Likely benign	-1	RCV002908217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160457	108160457		-
NM_000051.4(ATM):c.4366G>A (p.Gly1456Ser)	472	ATM	Uncertain significance	1591663544	RCV000801895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160458	108160458	11:g.108160458G>A	-
NM_000051.4(ATM):c.4367G>A (p.Gly1456Asp)	472	ATM	Uncertain significance	894398811	RCV000813376\|RCV002332677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160459	108160459	11:g.108160459G>A	-
NM_000051.4(ATM):c.4368C>T (p.Gly1456=)	472	ATM	Likely benign	-1	RCV003006167;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160460	108160460		-
NM_000051.4(ATM):c.4370T>G (p.Leu1457Ter)	472	ATM	Pathogenic/Likely pathogenic	373226793	RCV000131174\|RCV000411522\|RCV001560591\|RCV003467163;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160462	108160462	11:g.108160462T>G	ClinGen:CA167716	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4371A>C (p.Leu1457Phe)	472	ATM	Uncertain significance	765713557	RCV000807068\|RCV002332651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160463	108160463	11:g.108160463A>C	-
NM_000051.4(ATM):c.4373del (p.Gly1458fs)	472	ATM	Pathogenic	587781653	RCV000129787\|RCV000254632\|RCV000474596\|RCV000709710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160464	108160464	11:g.108160464_108160464del	ClinGen:CA294117	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4372G>A (p.Gly1458Arg)	472	ATM	Uncertain significance	2135764207	RCV002012313;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160464	108160464	108160464	-
NM_000051.4(ATM):c.4375G>A (p.Gly1459Arg)	472	ATM	Uncertain significance	145667735	RCV000115192\|RCV000196015\|RCV000515274\|RCV000586694\|RCV001249852\|RCV001824608\|RCV003389686\|RCV003460803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108160467	108160467	NC_000011.9:g.108160467G>A	ClinGen:CA286846	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4378G>T (p.Ala1460Ser)	472	ATM	Uncertain significance	1060501675	RCV000477246\|RCV001022386\|RCV003470436;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160470	108160470	NC_000011.9:g.108160470G>T	ClinGen:CA16613052	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4379C>T (p.Ala1460Val)	472	ATM	Uncertain significance	376165779	RCV000478770\|RCV000553522\|RCV000777910;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160471	108160471	11:g.108160471C>T	ClinGen:CA16619179	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4379C>G (p.Ala1460Gly)	472	ATM	Uncertain significance	376165779	RCV001191293\|RCV001364608;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160471	108160471	11:g.108160471C>G	-
NM_000051.4(ATM):c.4381T>A (p.Trp1461Arg)	472	ATM	Uncertain significance	982008501	RCV000776832\|RCV001034794;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160473	108160473	NC_000011.9:g.108160473T>A	-
NM_000051.4(ATM):c.4383G>A (p.Trp1461Ter)	472	ATM	Pathogenic	1294578913	RCV000801545\|RCV001580154;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222	11	108160475	108160475	11:g.108160475G>A	-
NM_000051.4(ATM):c.4386C>T (p.Ala1462=)	472	ATM	Likely benign	1433672958	RCV001413627\|RCV002327209;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160478	108160478	11:g.108160478C>T	-
NM_000051.4(ATM):c.4386C>A (p.Ala1462=)	472	ATM	Likely benign	1433672958	RCV002185950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160478	108160478	108160478	-
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys)	472	ATM	Conflicting interpretations of pathogenicity	138327406	RCV000115193\|RCV000122848\|RCV000120139\|RCV000588436\|RCV001356026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	11	108160480	108160480	NC_000011.9:g.108160480T>G	ClinGen:CA151463	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4389T>C (p.Phe1463=)	472	ATM	Likely benign	1555097753	RCV000568531\|RCV000628319;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160481	108160481	NC_000011.9:g.108160481T>C	ClinGen:CA476674011	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4391TTC[1] (p.Leu1465del)	472	ATM	Uncertain significance	2082682405	RCV001238947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160483	108160485	11:g.108160483_108160485del	-
NM_000051.4(ATM):c.4391T>A (p.Val1464Asp)	472	ATM	Uncertain significance	2082682300	RCV001347428;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160483	108160483	108160483	-
NM_000051.4(ATM):c.4391T>C (p.Val1464Ala)	472	ATM	Uncertain significance	2082682300	RCV001902471;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160483	108160483	108160483	-
NM_000051.4(ATM):c.4394T>C (p.Leu1465Pro)	472	ATM	Conflicting interpretations of pathogenicity	730881391	RCV000159765\|RCV000206187\|RCV000220574\|RCV003467242;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160486	108160486	NC_000011.9:g.108160486T>C	ClinGen:CA298357,UniProtKB:Q13315#VAR_010826	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4394T>A (p.Leu1465His)	472	ATM	Uncertain significance	730881391	RCV001368219;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160486	108160486	108160486	-
NM_000051.4(ATM):c.4396C>G (p.Arg1466Gly)	472	ATM	Conflicting interpretations of pathogenicity	730881369	RCV000159723\|RCV000197917\|RCV000212014\|RCV003467230;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160488	108160488	NC_000011.9:g.108160488C>G	ClinGen:CA298242	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4396C>T (p.Arg1466Ter)	472	ATM	Pathogenic	730881369	RCV000227538\|RCV000445657\|RCV000657608\|RCV000762821\|RCV001356094\|RCV003165589\|RCV003463629;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108160488	108160488	11:g.108160488C>T	ClinGen:CA6265441	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4396C>A (p.Arg1466=)	472	ATM	Uncertain significance	730881369	RCV001342818;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160488	108160488	108160488	-
NM_000051.4(ATM):c.4397G>A (p.Arg1466Gln)	472	ATM	Uncertain significance	749770110	RCV000214216\|RCV000705795\|RCV003468977;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160489	108160489	11:g.108160489G>A	ClinGen:CA6265442	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4397_4398delinsCG (p.Arg1466Pro)	472	ATM	Conflicting interpretations of pathogenicity	886038217	RCV000242236\|RCV000494153\|RCV000628135\|RCV001764228;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108160489	108160490	NC_000011.9:g.108160489_108160490delinsCG	ClinGen:CA10587105	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4397G>C (p.Arg1466Pro)	472	ATM	Conflicting interpretations of pathogenicity	749770110	RCV001044920\|RCV002327288\|RCV003467736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160489	108160489	11:g.108160489G>C	-
NM_000051.4(ATM):c.4398A>G (p.Arg1466=)	472	ATM	Likely benign	142728382	RCV000163133\|RCV000423162\|RCV000524963;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160490	108160490	11:g.108160490A>G	ClinGen:CA187533	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4398A>T (p.Arg1466=)	472	ATM	Likely benign	142728382	RCV000582982\|RCV002060600;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160490	108160490	11:g.108160490A>T	ClinGen:CA476674028	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4400_4405dup (p.Val1468_Ile1469insAsnVal)	472	ATM	Uncertain significance	2082683548	RCV001204373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160491	108160492	11:g.108160491_108160492insACGTTA	-
NM_000051.4(ATM):c.4400A>G (p.Asp1467Gly)	472	ATM	Uncertain significance	730881392	RCV000159766\|RCV000627926\|RCV001022431\|RCV003387777\|RCV003467243;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160492	108160492	NC_000011.9:g.108160492A>G	ClinGen:CA298359	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4401C>T (p.Asp1467=)	472	ATM	Likely benign	876660356	RCV000214328\|RCV000458370\|RCV000612396\|RCV001722197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108160493	108160493	11:g.108160493C>T	ClinGen:CA10579148	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile)	472	ATM	Conflicting interpretations of pathogenicity	369903995	RCV000115194\|RCV000120138\|RCV000199082\|RCV000656760\|RCV001249853\|RCV003467026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C03461	11	108160494	108160494	NC_000011.9:g.108160494G>A	ClinGen:CA157119	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4402_4403delinsA (p.Val1468fs)	472	ATM	Pathogenic	1591663850	RCV000798918;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160494	108160495	11:g.108160495_108160495del	-
NM_000051.4(ATM):c.4404T>C (p.Val1468=)	472	ATM	Likely benign	1555097801	RCV000541970\|RCV000589939\|RCV001022434;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160496	108160496	11:g.108160496T>C	ClinGen:CA476674038	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4410T>C (p.Tyr1470=)	472	ATM	Likely benign	1057521912	RCV000434226\|RCV001022446\|RCV001419395;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160502	108160502	11:g.108160502T>C	ClinGen:CA16605789	CN169374 not specified;
NM_000051.4(ATM):c.4410T>A (p.Tyr1470Ter)	472	ATM	Likely pathogenic	-1	RCV003230929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160502	108160502		-
NM_000051.4(ATM):c.4411A>G (p.Thr1471Ala)	472	ATM	Uncertain significance	2082684549	RCV001369964\|RCV002246343\|RCV003237355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160503	108160503	108160503	-
NM_000051.4(ATM):c.4413_4431del (p.Leu1472fs)	472	ATM	Pathogenic	-1	RCV002815224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160503	108160521	NC_000011.9:g.108160505_108160523del	-
NM_000051.4(ATM):c.4413T>G (p.Thr1471=)	472	ATM	Likely benign	2135766153	RCV002072586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160505	108160505	108160505	-
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val)	472	ATM	Conflicting interpretations of pathogenicity	539676759	RCV000115195\|RCV000206408\|RCV000515407\|RCV000588453\|RCV001257473\|RCV002225319\|RCV002509222;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108160506	108160506	NC_000011.9:g.108160506T>G	ClinGen:CA286849	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4415T>A (p.Leu1472Ter)	472	ATM	Pathogenic	772555314	RCV000628130;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160507	108160507	NC_000011.9:g.108160507T>A	ClinGen:CA382532250	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4415T>C (p.Leu1472Ser)	472	ATM	Uncertain significance	772555314	RCV001205693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160507	108160507	11:g.108160507T>C	-
NM_000051.4(ATM):c.4416G>A (p.Leu1472=)	472	ATM	Likely benign	201526888	RCV000162638\|RCV000199337\|RCV000609816;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108160508	108160508	11:g.108160508G>A	ClinGen:CA186607	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4417A>G (p.Ile1473Val)	472	ATM	Uncertain significance	1565456980	RCV000806687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160509	108160509	11:g.108160509A>G	-
NM_000051.4(ATM):c.4419T>G (p.Ile1473Met)	472	ATM	Uncertain significance	2082685196	RCV001181733\|RCV002559790;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160511	108160511	11:g.108160511T>G	-
NM_000051.4(ATM):c.4420C>G (p.His1474Asp)	472	ATM	Uncertain significance	587779840	RCV000115196\|RCV000212016\|RCV000206587\|RCV003460804;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160512	108160512	NC_000011.9:g.108160512C>G	ClinGen:CA286852	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4420C>A (p.His1474Asn)	472	ATM	Uncertain significance	587779840	RCV000204593\|RCV000575393\|RCV003235130;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108160512	108160512	NC_000011.9:g.108160512C>A	ClinGen:CA348817	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4421A>G (p.His1474Arg)	472	ATM	Uncertain significance	2082685461	RCV001307892\|RCV002327680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160513	108160513	108160513	-
NM_000051.4(ATM):c.4422C>T (p.His1474=)	472	ATM	Likely benign	1555097849	RCV000554438\|RCV002329249;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160514	108160514	11:g.108160514C>T	ClinGen:CA476674059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4422C>G (p.His1474Gln)	472	ATM	Uncertain significance	-1	RCV002602341;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160514	108160514	NC_000011.9:g.108160514C>G	-
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys)	472	ATM	Conflicting interpretations of pathogenicity	34640941	RCV000115197\|RCV000122849\|RCV000212017\|RCV000590782\|RCV001281009\|RCV001355381\|RCV001250427\|RCV001798316;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108160516	108160516	NC_000011.9:g.108160516A>G	ClinGen:CA286855,UniProtKB:Q13315#VAR_041565	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4425T>C (p.Tyr1475=)	472	ATM	Likely benign	2135766671	RCV001492489;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160517	108160517	108160517	-
NM_000051.4(ATM):c.4426_4436+14del	472	ATM	Likely pathogenic	-1	RCV002885263;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160517	108160541	NC_000011.9:g.108160518_108160542del	-
NM_000051.4(ATM):c.4428C>G (p.Ile1476Met)	472	ATM	Uncertain significance	876659370	RCV000222174\|RCV001307358;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160520	108160520	11:g.108160520C>G	ClinGen:CA10579149	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4430A>G (p.Asn1477Ser)	472	ATM	Uncertain significance	-1	RCV002333969\|RCV003094698;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160522	108160522	108160522	-
NM_000051.4(ATM):c.4431C>A (p.Asn1477Lys)	472	ATM	Uncertain significance	571989748	RCV000364400\|RCV000569554;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160523	108160523	NC_000011.9:g.108160523C>A	ClinGen:CA10633312	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4431C>T (p.Asn1477=)	472	ATM	Likely benign	571989748	RCV000983334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160523	108160523	11:g.108160523C>T	-
NM_000051.4(ATM):c.4432C>T (p.Gln1478Ter)	472	ATM	Pathogenic	1368412801	RCV000680217\|RCV001022468\|RCV003465548;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108160524	108160524	NC_000011.9:g.108160524C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4433A>G (p.Gln1478Arg)	472	ATM	Uncertain significance	2082686442	RCV001248582\|RCV003315257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160525	108160525	11:g.108160525A>G	-
NM_000051.4(ATM):c.4433A>T (p.Gln1478Leu)	472	ATM	Uncertain significance	2082686442	RCV001977973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160525	108160525	108160525	-
NM_000051.4(ATM):c.4434A>T (p.Gln1478His)	472	ATM	Likely benign	2082686560	RCV001034248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160526	108160526	11:g.108160526A>T	-
NM_000051.4(ATM):c.4434A>G (p.Gln1478=)	472	ATM	Likely benign	2082686560	RCV001321870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160526	108160526	108160526	-
NM_000051.4(ATM):c.4435A>G (p.Arg1479Gly)	472	ATM	Uncertain significance	2082686702	RCV001312439;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160527	108160527	108160527	-
NM_000051.4(ATM):c.4436G>A (p.Arg1479Lys)	472	ATM	Conflicting interpretations of pathogenicity	2135767002	RCV001899207\|RCV002331379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160528	108160528	108160528	-
NM_000051.4(ATM):c.4436+1G>T	472	ATM	Likely pathogenic	1555097894	RCV000669742;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160529	108160529	11:g.108160529G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4436+1G>A	472	ATM	Pathogenic	1555097894	RCV001379458;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160529	108160529	108160529	-
NM_000051.4(ATM):c.4436+2T>C	472	ATM	Pathogenic/Likely pathogenic	1555097898	RCV000573320\|RCV000628004;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160530	108160530	NC_000011.9:g.108160530T>C	ClinGen:CA382532302	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4436+3A>T	472	ATM	Uncertain significance	2082686950	RCV001057065;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160531	108160531	11:g.108160531A>T	-
NM_000051.4(ATM):c.4436+3A>G	472	ATM	Conflicting interpretations of pathogenicity	2082686950	RCV002255972\|RCV003094252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160531	108160531	108160531	-
NM_000051.4(ATM):c.4436+5A>G	472	ATM	Uncertain significance	2082687178	RCV001325144;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160533	108160533	108160533	-
NM_000051.4(ATM):c.4436+6T>C	472	ATM	Uncertain significance	2082687309	RCV001304207;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160534	108160534	108160534	-
NM_000051.4(ATM):c.4436+7A>G	472	ATM	Likely benign	749971237	RCV000613630\|RCV002529726;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160535	108160535	11:g.108160535A>G	ClinGen:CA658795365	CN169374 not specified;
NM_000051.4(ATM):c.4436+9C>T	472	ATM	Likely benign	1565457090	RCV000771491\|RCV000964570;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160537	108160537	NC_000011.9:g.108160537C>T	-
NM_000051.4(ATM):c.4436+10A>G	472	ATM	Conflicting interpretations of pathogenicity	878853509	RCV000230380\|RCV000429871\|RCV000582282;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108160538	108160538	11:g.108160538A>G	ClinGen:CA10582817	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4436+13T>C	472	ATM	Likely benign	1555097905	RCV000583722\|RCV002060601;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160541	108160541	11:g.108160541T>C	ClinGen:CA658683117	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4436+14T>G	472	ATM	Likely benign	762832046	RCV002153924;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160542	108160542	108160542	-
NM_000051.4(ATM):c.4436+15T>C	472	ATM	Likely benign	-1	RCV002889806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160543	108160543	NC_000011.9:g.108160543T>C	-
NM_000051.4(ATM):c.4436+16A>G	472	ATM	Likely benign	-1	RCV003032959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160544	108160544	NC_000011.9:g.108160544A>G	-
NM_000051.4(ATM):c.4436+18A>T	472	ATM	Likely benign	1317954521	RCV002113112;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108160546	108160546	108160546	-
NM_000051.4(ATM):c.4436+19C>T	472	ATM	Benign/Likely benign	539302674	RCV002124134\|RCV002225968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108160547	108160547	108160547	-
NM_000051.4(ATM):c.4437-20T>G	472	ATM	Likely benign	558432723	RCV000423680\|RCV000580490\|RCV002064980\|RCV003316545;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163326	108163326	11:g.108163326T>G	ClinGen:CA16606183	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4437-13dup	472	ATM	Likely benign	1555099701	RCV000584299\|RCV002060602;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163332	108163333	NC_000011.9:g.108163333dup	ClinGen:CA6265470	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4437-14T>C	472	ATM	Likely benign	900984301	RCV000606824\|RCV001180125\|RCV002063233;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163332	108163332	11:g.108163332T>C	ClinGen:CA228378082	CN169374 not specified;
NM_000051.4(ATM):c.4437-13C>T	472	ATM	Likely benign	769462032	RCV002082637;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163333	108163333	108163333	-
NM_000051.4(ATM):c.4437-12T>C	472	ATM	Likely benign	772888878	RCV002105665;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163334	108163334	108163334	-
NM_000051.4(ATM):c.4437-10C>A	472	ATM	Likely benign	1397770130	RCV001502776;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163336	108163336	11:g.108163336C>A	-
NM_000051.4(ATM):c.4437-10C>T	472	ATM	Likely benign	1397770130	RCV000950211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163336	108163336	11:g.108163336C>T	-
NC_000011.10:g.(?_108292609)_(108293487_?)del	472	ATM	Pathogenic	-1	RCV001031674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163336	108164214	-1	-
NC_000011.9:g.(?_108163336)_(108165796_?)del	472	ATM	Pathogenic	-1	RCV001941860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163336	108165796	-1	-
NC_000011.9:g.(?_108163336)_(108170622_?)del	472	ATM	Likely pathogenic	-1	RCV003119179;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163336	108170622		-
NM_000051.4(ATM):c.4437-9C>T	472	ATM	Conflicting interpretations of pathogenicity	766003804	RCV000195466\|RCV000433234\|RCV000582132\|RCV001722111;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108163337	108163337	NC_000011.9:g.108163337C>T	ClinGen:CA335706	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4437-7dup	472	ATM	Conflicting interpretations of pathogenicity	1565460797	RCV000776669\|RCV002535573;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163338	108163339	NC_000011.9:g.108163339dup	-
NM_000051.4(ATM):c.4437-8T>G	472	ATM	Uncertain significance	765929660	RCV001319674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163338	108163338	108163338	-
NM_000051.4(ATM):c.4437-7A>G	472	ATM	Conflicting interpretations of pathogenicity	370354306	RCV000423984\|RCV000472403\|RCV000579570\|RCV001703689;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108163339	108163339	11:g.108163339A>G	ClinGen:CA6265474	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4437-7A>C	472	ATM	Likely benign	370354306	RCV000702505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163339	108163339	11:g.108163339A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108163340)_(108170618_?)del	472	ATM	Likely pathogenic	-1	RCV001377246;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163340	108170618	-1	-
NM_000051.4(ATM):c.4437-5A>G	472	ATM	Likely benign	876658290	RCV000221017\|RCV001454607;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163341	108163341	11:g.108163341A>G	ClinGen:CA10579150	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4437-1G>C	472	ATM	Pathogenic/Likely pathogenic	759520465	RCV000216400\|RCV000486776\|RCV000530451\|RCV003469042;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163345	108163345	11:g.108163345G>C	ClinGen:CA6265475	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108292619)_(108299885_?)del	472	ATM	Likely pathogenic	-1	RCV000458922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163346	108170612		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4438C>T (p.Pro1480Ser)	472	ATM	Uncertain significance	2082856332	RCV001060873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163347	108163347	11:g.108163347C>T	-
NM_000051.4(ATM):c.4439CTT[1] (p.Ser1481del)	472	ATM	Uncertain significance	786202338	RCV000165098\|RCV000700679\|RCV003468734;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163348	108163350	11:g.108163348_108163350del	ClinGen:CA192513	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4439C>T (p.Pro1480Leu)	472	ATM	Uncertain significance	200456625	RCV001051653\|RCV001176512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163348	108163348	11:g.108163348C>T	-
NM_000051.4(ATM):c.4440_4441delinsGC (p.Ser1481Pro)	472	ATM	Uncertain significance	1064793037	RCV000479596\|RCV002298612\|RCV002489141;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163349	108163350	NC_000011.9:g.108163349_108163350delinsGC	ClinGen:CA16619180	CN169374 not specified;
NM_000051.4(ATM):c.4441T>C (p.Ser1481Pro)	472	ATM	Uncertain significance	2135797205	RCV001934798\|RCV002482520;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163350	108163350	108163350	-
NM_000051.4(ATM):c.4442C>T (p.Ser1481Phe)	472	ATM	Uncertain significance	863224572	RCV000198004\|RCV000213922\|RCV000236512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108163351	108163351	NC_000011.9:g.108163351C>T	ClinGen:CA337580	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4443T>C (p.Ser1481=)	472	ATM	Likely benign	2135797265	RCV001438567;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163352	108163352	108163352	-
NM_000051.4(ATM):c.4443T>G (p.Ser1481=)	472	ATM	Likely benign	-1	RCV003015741;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163352	108163352		-
NM_000051.4(ATM):c.4444T>C (p.Cys1482Arg)	472	ATM	Conflicting interpretations of pathogenicity	752559455	RCV000691288\|RCV001022491\|RCV001193601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108163353	108163353	11:g.108163353T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4445G>A (p.Cys1482Tyr)	472	ATM	Uncertain significance	201277352	RCV000164631\|RCV000461400\|RCV000484293;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108163354	108163354	11:g.108163354G>A	ClinGen:CA191440	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4447A>G (p.Ile1483Val)	472	ATM	Uncertain significance	1281685502	RCV000697062\|RCV000774993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163356	108163356	NC_000011.9:g.108163356A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4447A>T (p.Ile1483Phe)	472	ATM	Uncertain significance	1281685502	RCV001054514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163356	108163356	11:g.108163356A>T	-
NM_000051.4(ATM):c.4452_4462del (p.Met1484fs)	472	ATM	Pathogenic	-1	RCV002885363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163357	108163367	NC_000011.9:g.108163361_108163371del	-
NM_000051.4(ATM):c.4449C>T (p.Ile1483=)	472	ATM	Likely benign	786203726	RCV000167155\|RCV001475705\|RCV001704225;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108163358	108163358	11:g.108163358C>T	ClinGen:CA197626	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4450_4451del (p.Met1484fs)	472	ATM	Pathogenic	1565460896	RCV000697618\|RCV002332466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163359	108163360	NC_000011.9:g.108163359_108163360del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4450A>T (p.Met1484Leu)	472	ATM	Uncertain significance	2135797458	RCV001372051\|RCV002329395;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163359	108163359	108163359	-
NM_000051.4(ATM):c.4451T>C (p.Met1484Thr)	472	ATM	Conflicting interpretations of pathogenicity	786203785	RCV000167238\|RCV001212030\|RCV003153456;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	11	108163360	108163360	11:g.108163360T>C	ClinGen:CA197812	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4451del (p.Met1484fs)	472	ATM	Pathogenic/Likely pathogenic	1555099760	RCV000565901\|RCV000671705\|RCV003155952;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163360	108163360	NC_000011.9:g.108163360del	ClinGen:CA658656171	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4454A>G (p.Asp1485Gly)	472	ATM	Uncertain significance	1555099762	RCV000542920\|RCV000572708;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163363	108163363	11:g.108163363A>G	ClinGen:CA382532995	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4454A>C (p.Asp1485Ala)	472	ATM	Uncertain significance	1555099762	RCV000820225;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163363	108163363	11:g.108163363A>C	-
NM_000051.4(ATM):c.4458_4459del (p.Ser1487fs)	472	ATM	Pathogenic	2135797740	RCV002040092;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163364	108163365	108163363	-
NM_000051.4(ATM):c.4455T>C (p.Asp1485=)	472	ATM	Likely benign	-1	RCV002885851;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163364	108163364		-
NM_000051.4(ATM):c.4456G>C (p.Val1486Leu)	472	ATM	Conflicting interpretations of pathogenicity	786203352	RCV000166626\|RCV000205290\|RCV003324726;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108163365	108163365	11:g.108163365G>C	ClinGen:CA196339	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4456G>A (p.Val1486Met)	472	ATM	Uncertain significance	786203352	RCV002016879;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163365	108163365	108163365	-
NM_000051.4(ATM):c.4458G>A (p.Val1486=)	472	ATM	Likely benign	1591673788	RCV002066130\|RCV002332908;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163367	108163367	11:g.108163367G>A	-
NM_000051.4(ATM):c.4458G>T (p.Val1486=)	472	ATM	Likely benign	1591673788	RCV002171698;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163367	108163367	108163367	-
NM_000051.4(ATM):c.4461A>G (p.Ser1487=)	472	ATM	Likely benign	2082859007	RCV001179234\|RCV001468172;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163370	108163370	11:g.108163370A>G	-
NM_000051.4(ATM):c.4461_4464del (p.Leu1488fs)	472	ATM	Pathogenic	-1	RCV003031655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163370	108163373	NC_000011.9:g.108163370_108163373del	-
NM_000051.4(ATM):c.4462T>C (p.Leu1488=)	472	ATM	Likely benign	1591673809	RCV001444065;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163371	108163371	11:g.108163371T>C	-
NM_000051.4(ATM):c.4465C>T (p.Arg1489Cys)	472	ATM	Uncertain significance	754181173	RCV000459393\|RCV000483688\|RCV000569181\|RCV000766502\|RCV003470419;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163374	108163374	NC_000011.9:g.108163374C>T	ClinGen:CA6265479	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4466_4467insAG (p.Ser1490fs)	472	ATM	Pathogenic	2135798107	RCV001981830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163374	108163375	108163374	-
NM_000051.4(ATM):c.4466G>A (p.Arg1489His)	472	ATM	Uncertain significance	201594549	RCV000159726\|RCV000217727\|RCV000467957\|RCV003467232;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163375	108163375	NC_000011.9:g.108163375G>A	ClinGen:CA298251	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4466G>T (p.Arg1489Leu)	472	ATM	Uncertain significance	201594549	RCV001051654\|RCV001182962;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163375	108163375	11:g.108163375G>T	-
NM_000051.4(ATM):c.4466G>C (p.Arg1489Pro)	472	ATM	Uncertain significance	-1	RCV002328448\|RCV003094713;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163375	108163375	108163375	-
NM_000051.4(ATM):c.4467T>C (p.Arg1489=)	472	ATM	Conflicting interpretations of pathogenicity	746296827	RCV000565886\|RCV001071585;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163376	108163376	NC_000011.9:g.108163376T>C	ClinGen:CA6265481	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4467del (p.Ser1490fs)	472	ATM	Pathogenic	2135798153	RCV001388905\|RCV001810731;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108163376	108163376	108163375	-
NM_000051.4(ATM):c.4468A>G (p.Ser1490Gly)	472	ATM	Uncertain significance	876658711	RCV000218371\|RCV000487259\|RCV000555359\|RCV002500725\|RCV002247648\|RCV003390965;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108163377	108163377	11:g.108163377A>G	ClinGen:CA10579151	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4469G>A (p.Ser1490Asn)	472	ATM	Uncertain significance	2135798205	RCV001970866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163378	108163378	108163378	-
NM_000051.4(ATM):c.4470C>T (p.Ser1490=)	472	ATM	Likely benign	2135798259	RCV001436033\|RCV002329487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163379	108163379	108163379	-
NM_000051.4(ATM):c.4471T>C (p.Phe1491Leu)	472	ATM	Uncertain significance	587781944	RCV000130312\|RCV000531385\|RCV002492501\|RCV003467139;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MO	11	108163380	108163380	11:g.108163380T>C	ClinGen:CA166160	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4473C>T (p.Phe1491=)	472	ATM	Conflicting interpretations of pathogenicity	4988008	RCV000122850\|RCV000123748\|RCV000212018\|RCV000587530\|RCV001354679\|RCV001798393\|RCV002225390;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C06	11	108163382	108163382	NC_000011.9:g.108163382C>T	ClinGen:CA289569	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4476C>T (p.Ser1492=)	472	ATM	Likely benign	780236656	RCV001489902\|RCV002329592;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163385	108163385	108163385	-
NM_000051.4(ATM):c.4477C>T (p.Leu1493Phe)	472	ATM	Uncertain significance	377595814	RCV000132531\|RCV000232961\|RCV000479110\|RCV001192364\|RCV002478404\|RCV003467199;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108163386	108163386	11:g.108163386C>T	ClinGen:CA170018	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4477C>G (p.Leu1493Val)	472	ATM	Uncertain significance	377595814	RCV000798272\|RCV001177215;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163386	108163386	11:g.108163386C>G	-
NM_000051.4(ATM):c.4493_4494insTTTTTTTTTTTTTTTTTTNNNNNNNNNNCTAGTGAGATGAACCCGGTACCTCAGATGGAAATGCAGAAA	472	ATM	Pathogenic	-1	RCV001384130;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163388	108163389	108163388	-
NM_000051.4(ATM):c.4480T>C (p.Cys1494Arg)	472	ATM	Uncertain significance	1060501576	RCV000458675\|RCV000570310\|RCV001764394\|RCV003392279;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|	11	108163389	108163389	NC_000011.9:g.108163389T>C	ClinGen:CA16613054	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4480T>A (p.Cys1494Ser)	472	ATM	Uncertain significance	1060501576	RCV001022553\|RCV001037741;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163389	108163389	11:g.108163389T>A	-
NM_000051.4(ATM):c.4482T>C (p.Cys1494=)	472	ATM	Likely benign	769071554	RCV000564304\|RCV000832613\|RCV001081246\|RCV001193041;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108163391	108163391	11:g.108163391T>C	ClinGen:CA6265483	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4483del (p.Cys1495fs)	472	ATM	Pathogenic	2135798648	RCV001939402;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163391	108163391	108163390	-
NM_000051.4(ATM):c.4484G>T (p.Cys1495Phe)	472	ATM	Uncertain significance	878853510	RCV000227931\|RCV001177147;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163393	108163393	NC_000011.9:g.108163393G>T	ClinGen:CA10582818	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4485T>C (p.Cys1495=)	472	ATM	Likely benign	2135798721	RCV002080505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163394	108163394	108163394	-
NM_000051.4(ATM):c.4488C>T (p.Asp1496=)	472	ATM	Likely benign	772833802	RCV000567893\|RCV001455565;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163397	108163397	11:g.108163397C>T	ClinGen:CA476674153	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4489TTA[1] (p.Leu1498del)	472	ATM	Uncertain significance	1555099818	RCV000670979;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163398	108163400	11:g.108163398_108163400del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4490T>G (p.Leu1497Ter)	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002947427\|RCV003455606;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163399	108163399	NC_000011.9:g.108163399T>G	-
NM_000051.4(ATM):c.4491A>G (p.Leu1497=)	472	ATM	Likely benign	878853511	RCV001432232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163400	108163400	NC_000011.9:g.108163400A>G	ClinGen:CA10582819	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4492T>C (p.Leu1498=)	472	ATM	Conflicting interpretations of pathogenicity	748949478	RCV000163758\|RCV000761806\|RCV001085061\|RCV002265641;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108163401	108163401	11:g.108163401T>C	ClinGen:CA189119	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4493T>G (p.Leu1498Ter)	472	ATM	Pathogenic	1329359780	RCV000557405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163402	108163402	NC_000011.9:g.108163402T>G	ClinGen:CA382533389	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4493T>C (p.Leu1498Ser)	472	ATM	Uncertain significance	1329359780	RCV000561867\|RCV001867874;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163402	108163402	11:g.108163402T>C	ClinGen:CA382533385	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4493_4494insSVAelement	472	ATM	Pathogenic	2082862502	RCV001089794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163402	108163403	-1	-
NM_000051.4(ATM):c.4494A>C (p.Leu1498Phe)	472	ATM	Uncertain significance	1064793476	RCV000480704\|RCV001833604\|RCV002489147;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163403	108163403	11:g.108163403A>C	ClinGen:CA16619181	CN169374 not specified;
NC_000011.9:g.108163403_108163404insLINE	472	ATM	Pathogenic	-1	RCV001385854;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163403	108163404	-1	-
NM_000051.4(ATM):c.4495A>C (p.Ser1499Arg)	472	ATM	Uncertain significance	2135799018	RCV001963361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163404	108163404	108163404	-
NM_000051.4(ATM):c.4497_4519dup (p.Thr1507delinsIleArgPheAlaArgGlnProTer)	472	ATM	Pathogenic	2135799107	RCV001958792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163405	108163406	108163405	-
NM_000051.4(ATM):c.4499A>G (p.Gln1500Arg)	472	ATM	Uncertain significance	786203789	RCV000167244\|RCV000706772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163408	108163408	11:g.108163408A>G	ClinGen:CA197830	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4499A>C (p.Gln1500Pro)	472	ATM	Uncertain significance	786203789	RCV001071772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163408	108163408	11:g.108163408A>C	-
NM_000051.4(ATM):c.4500G>A (p.Gln1500=)	472	ATM	Likely benign	1345605814	RCV000570393\|RCV001493693;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163409	108163409	11:g.108163409G>A	ClinGen:CA476674161	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4501G>T (p.Val1501Phe)	472	ATM	Uncertain significance	370574283	RCV000218663\|RCV000817163;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163410	108163410	11:g.108163410G>T	ClinGen:CA6265485	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4501G>A (p.Val1501Ile)	472	ATM	Uncertain significance	370574283	RCV000688748\|RCV003163126;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163410	108163410	11:g.108163410G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4503T>C (p.Val1501=)	472	ATM	Uncertain significance	2082863480	RCV001107439;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163412	108163412	11:g.108163412T>C	-
NM_000051.4(ATM):c.4505G>T (p.Cys1502Phe)	472	ATM	Uncertain significance	759340881	RCV000199907\|RCV000234909\|RCV000589257\|RCV003430757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|	11	108163414	108163414	NC_000011.9:g.108163414G>T	ClinGen:CA338957	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4505G>A (p.Cys1502Tyr)	472	ATM	Uncertain significance	759340881	RCV001035862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163414	108163414	11:g.108163414G>A	-
NM_000051.4(ATM):c.4507C>T (p.Gln1503Ter)	472	ATM	Pathogenic/Likely pathogenic	1131691164	RCV000493310\|RCV000545871\|RCV000657609\|RCV000762822\|RCV003470610;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108163416	108163416	11:g.108163416C>T	ClinGen:CA382533561	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4508A>G (p.Gln1503Arg)	472	ATM	Uncertain significance	1555099858	RCV000628112\|RCV001022603;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163417	108163417	NC_000011.9:g.108163417A>G	ClinGen:CA382533579	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4510A>G (p.Thr1504Ala)	472	ATM	Uncertain significance	767466937	RCV001022614\|RCV001041858\|RCV001759710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108163419	108163419	11:g.108163419A>G	-
NM_000051.4(ATM):c.4511C>T (p.Thr1504Ile)	472	ATM	Uncertain significance	1060501638	RCV000474342\|RCV002339149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163420	108163420	NC_000011.9:g.108163420C>T	ClinGen:CA16613353	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4515C>T (p.Ala1505=)	472	ATM	Likely benign	540798997	RCV000163810\|RCV000863250\|RCV003326364;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108163424	108163424	11:g.108163424C>T	ClinGen:CA189246	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4515C>G (p.Ala1505=)	472	ATM	Likely benign	540798997	RCV001439379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163424	108163424	NC_000011.9:g.108163424C>G	ClinGen:CA10582820	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4516G>A (p.Val1506Met)	472	ATM	Uncertain significance	760542469	RCV000196341\|RCV000236242\|RCV001022617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163425	108163425	NC_000011.9:g.108163425G>A	ClinGen:CA336348	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4516G>T (p.Val1506Leu)	472	ATM	Uncertain significance	760542469	RCV000692617\|RCV000771873\|RCV002233547;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108163425	108163425	11:g.108163425G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4516G>C (p.Val1506Leu)	472	ATM	Uncertain significance	760542469	RCV001243693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163425	108163425	11:g.108163425G>C	-
NM_000051.4(ATM):c.4517_4518insCTTACTTACTTAAGGATGCT (p.Val1506_Thr1507insLeuLeuThrTer)	472	ATM	Pathogenic	2135799845	RCV001932453;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163425	108163426	108163425	-
NM_000051.4(ATM):c.4517T>A (p.Val1506Glu)	472	ATM	Uncertain significance	1555099878	RCV000628124;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163426	108163426	11:g.108163426T>A	ClinGen:CA382533638	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4518G>A (p.Val1506=)	472	ATM	Likely benign	1057524110	RCV000435759\|RCV000558268\|RCV001022619;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163427	108163427	11:g.108163427G>A	ClinGen:CA16606188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4518G>T (p.Val1506=)	472	ATM	Likely benign	1057524110	RCV002150181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163427	108163427	108163427	-
NM_000051.4(ATM):c.4518G>C (p.Val1506=)	472	ATM	Likely benign	1057524110	RCV002195843\|RCV002337396;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163427	108163427	108163427	-
NM_000051.4(ATM):c.4522dup (p.Tyr1508fs)	472	ATM	Pathogenic	1555099888	RCV000460190;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163429	108163430	NC_000011.9:g.108163431dup	ClinGen:CA16613145	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4520C>T (p.Thr1507Ile)	472	ATM	Uncertain significance	1064793811	RCV000481185\|RCV000689161\|RCV001184204;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163429	108163429	11:g.108163429C>T	ClinGen:CA16619183	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4521T>G (p.Thr1507=)	472	ATM	Likely benign	1555099885	RCV000582771\|RCV001860065;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163430	108163430	NC_000011.9:g.108163430T>G	ClinGen:CA476674183	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4523dup (p.Tyr1508Ter)	472	ATM	Pathogenic/Likely pathogenic	2135800044	RCV001382797\|RCV002256754;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163431	108163432	108163431	-
NM_000051.4(ATM):c.4524C>T (p.Tyr1508=)	472	ATM	Likely benign	1555099892	RCV000569901\|RCV002060453;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163433	108163433	NC_000011.9:g.108163433C>T	ClinGen:CA476674184	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4524C>A (p.Tyr1508Ter)	472	ATM	Pathogenic	1555099892	RCV001022637\|RCV001862224;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163433	108163433	11:g.108163433C>A	-
NM_000051.4(ATM):c.4525T>C (p.Cys1509Arg)	472	ATM	Uncertain significance	1064795574	RCV000487032\|RCV001233379\|RCV002329156;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163434	108163434	11:g.108163434T>C	ClinGen:CA16619184	CN169374 not specified;
NM_000051.4(ATM):c.4526G>A (p.Cys1509Tyr)	472	ATM	Uncertain significance	2082866294	RCV001182898\|RCV002559814;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163435	108163435	11:g.108163435G>A	-
NM_000051.4(ATM):c.4529A>G (p.Lys1510Arg)	472	ATM	Uncertain significance	1208799683	RCV000567867\|RCV001062988;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163438	108163438	NC_000011.9:g.108163438A>G	ClinGen:CA382533696	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4531G>A (p.Asp1511Asn)	472	ATM	Uncertain significance	2135800277	RCV001991762;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163440	108163440	108163440	-
NM_000051.4(ATM):c.4531G>C (p.Asp1511His)	472	ATM	Uncertain significance	2135800277	RCV001896389;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163440	108163440	108163440	-
NM_000051.4(ATM):c.4532A>T (p.Asp1511Val)	472	ATM	Uncertain significance	1591674356	RCV000815327\|RCV001022654;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163441	108163441	11:g.108163441A>T	-
NM_000051.4(ATM):c.4534G>A (p.Ala1512Thr)	472	ATM	Uncertain significance	1060501653	RCV000477196\|RCV000565707\|RCV000991560\|RCV002248679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108163443	108163443	11:g.108163443G>A	ClinGen:CA16613146	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4535C>T (p.Ala1512Val)	472	ATM	Uncertain significance	1591674385	RCV001190312\|RCV001352327;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163444	108163444	11:g.108163444C>T	-
NM_000051.4(ATM):c.4536T>C (p.Ala1512=)	472	ATM	Likely benign	1555099909	RCV000581714\|RCV001463926;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163445	108163445	NC_000011.9:g.108163445T>C	ClinGen:CA476674194	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4537C>G (p.Leu1513Val)	472	ATM	Uncertain significance	2082867393	RCV001046604\|RCV003160352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163446	108163446	11:g.108163446C>G	-
NM_000051.4(ATM):c.4537C>T (p.Leu1513=)	472	ATM	Likely benign	2082867393	RCV001182161\|RCV002559797;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163446	108163446	11:g.108163446C>T	-
NM_000051.4(ATM):c.4544dup (p.Asn1515fs)	472	ATM	Pathogenic	2082867555	RCV001059518;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163449	108163450	11:g.108163449_108163450insA	-
NM_000051.4(ATM):c.4544A>C (p.Asn1515Thr)	472	ATM	Uncertain significance	1565461414	RCV000779791\|RCV001856179;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163453	108163453	NC_000011.9:g.108163453A>C	-
NM_000051.4(ATM):c.4544A>G (p.Asn1515Ser)	472	ATM	Conflicting interpretations of pathogenicity	1565461414	RCV002029209\|RCV002337150;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163453	108163453	108163453	-
NM_000051.4(ATM):c.4545C>T (p.Asn1515=)	472	ATM	Likely benign	764039368	RCV000218428\|RCV000476553\|RCV000616272\|RCV001537810\|RCV003316195;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163454	108163454	11:g.108163454C>T	ClinGen:CA6265489	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4546C>T (p.His1516Tyr)	472	ATM	Uncertain significance	1389372050	RCV000627909\|RCV001022680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163455	108163455	11:g.108163455C>T	ClinGen:CA382533796	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4546C>A (p.His1516Asn)	472	ATM	Uncertain significance	1389372050	RCV001317504;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163455	108163455	108163455	-
NM_000051.4(ATM):c.4547A>G (p.His1516Arg)	472	ATM	Uncertain significance	1565461434	RCV000777403\|RCV000803090;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163456	108163456	NC_000011.9:g.108163456A>G	-
NM_000051.4(ATM):c.4547A>T (p.His1516Leu)	472	ATM	Uncertain significance	-1	RCV002814433;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163456	108163456	NC_000011.9:g.108163456A>T	-
NM_000051.4(ATM):c.4549C>T (p.Leu1517Phe)	472	ATM	Uncertain significance	754058482	RCV000197465\|RCV000220701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163458	108163458	NC_000011.9:g.108163458C>T	ClinGen:CA337222	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4551T>A (p.Leu1517=)	472	ATM	Likely benign	1459998980	RCV000568047\|RCV000939881;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163460	108163460	NC_000011.9:g.108163460T>A	ClinGen:CA476674208	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4551T>C (p.Leu1517=)	472	ATM	Likely benign	1459998980	RCV000583217\|RCV001405125;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163460	108163460	11:g.108163460T>C	ClinGen:CA476674210	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4552_4556del (p.His1518fs)	472	ATM	Pathogenic	2082868647	RCV001244302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163460	108163464	11:g.108163460_108163464del	-
NM_000051.4(ATM):c.4552C>A (p.His1518Asn)	472	ATM	Uncertain significance	2135800970	RCV002026794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163461	108163461	108163461	-
NM_000051.4(ATM):c.4553A>C (p.His1518Pro)	472	ATM	Uncertain significance	762132832	RCV000228355\|RCV000566198\|RCV001577455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108163462	108163462	NC_000011.9:g.108163462A>C	ClinGen:CA6265490	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4553A>G (p.His1518Arg)	472	ATM	Uncertain significance	762132832	RCV001022687\|RCV002481830\|RCV002550878;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163462	108163462	11:g.108163462A>G	-
NM_000051.4(ATM):c.4555G>C (p.Val1519Leu)	472	ATM	Uncertain significance	969120822	RCV000534282\|RCV003470670;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163464	108163464	11:g.108163464G>C	ClinGen:CA228378392	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4555del (p.Val1519fs)	472	ATM	Pathogenic	2135801094	RCV001385206;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163464	108163464	108163463	-
NM_000051.4(ATM):c.4555G>A (p.Val1519Ile)	472	ATM	Uncertain significance	969120822	RCV002032990\|RCV002331342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163464	108163464	108163464	-
NM_000051.4(ATM):c.4557T>A (p.Val1519=)	472	ATM	Likely benign	2135801173	RCV001440245;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163466	108163466	108163466	-
NM_000051.4(ATM):c.4558A>C (p.Ile1520Leu)	472	ATM	Uncertain significance	765195241	RCV001022692\|RCV001276272;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163467	108163467	11:g.108163467A>C	-
NM_000051.4(ATM):c.4558A>T (p.Ile1520Phe)	472	ATM	Uncertain significance	-1	RCV002953671\|RCV003108136\|RCV003308362;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163467	108163467	NC_000011.9:g.108163467A>T	-
NM_000051.4(ATM):c.4559T>C (p.Ile1520Thr)	472	ATM	Uncertain significance	375654664	RCV000222820\|RCV000822818;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163468	108163468	11:g.108163468T>C	ClinGen:CA10579153	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4561G>C (p.Val1521Leu)	472	ATM	Uncertain significance	141329176	RCV000219002\|RCV000235643\|RCV000467522\|RCV000657107\|RCV003468986;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163470	108163470	NC_000011.9:g.108163470G>C	ClinGen:CA6265493	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4561G>A (p.Val1521Ile)	472	ATM	Uncertain significance	141329176	RCV001840862\|RCV002543265;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163470	108163470	108163470	-
NM_000051.4(ATM):c.4562T>C (p.Val1521Ala)	472	ATM	Uncertain significance	786202673	RCV000165600\|RCV002516486;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163471	108163471	11:g.108163471T>C	ClinGen:CA193789	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4564G>A (p.Gly1522Ser)	472	ATM	Uncertain significance	1064795495	RCV000486238\|RCV000571788\|RCV000823999;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163473	108163473	11:g.108163473G>A	ClinGen:CA16619185	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4564G>C (p.Gly1522Arg)	472	ATM	Uncertain significance	1064795495	RCV001238326;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163473	108163473	11:g.108163473G>C	-
NM_000051.4(ATM):c.4565G>A (p.Gly1522Asp)	472	ATM	Uncertain significance	1555099954	RCV000673807\|RCV003278983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163474	108163474	11:g.108163474G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4565G>T (p.Gly1522Val)	472	ATM	Uncertain significance	1555099954	RCV001218874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163474	108163474	11:g.108163474G>T	-
NM_000051.4(ATM):c.4568C>T (p.Thr1523Ile)	472	ATM	Uncertain significance	1555099959	RCV000551313\|RCV002279321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108163477	108163477	NC_000011.9:g.108163477C>T	ClinGen:CA382533884	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4569A>G (p.Thr1523=)	472	ATM	Likely benign	1555099963	RCV000609380\|RCV001181861\|RCV003105996;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163478	108163478	11:g.108163478A>G	ClinGen:CA476674232	CN169374 not specified;
NM_000051.4(ATM):c.4569A>C (p.Thr1523=)	472	ATM	Likely benign	1555099963	RCV001422776\|RCV002341916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163478	108163478	108163478	-
NM_000051.4(ATM):c.4570C>G (p.Leu1524Val)	472	ATM	Uncertain significance	780603110	RCV000218183\|RCV001236997;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163479	108163479	11:g.108163479C>G	ClinGen:CA10579154	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4570C>T (p.Leu1524Phe)	472	ATM	Uncertain significance	780603110	RCV000575034\|RCV000807604;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163479	108163479	11:g.108163479C>T	ClinGen:CA6265495	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4570C>A (p.Leu1524Ile)	472	ATM	Uncertain significance	780603110	RCV001022720\|RCV002551859;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163479	108163479	11:g.108163479C>A	-
NM_000051.4(ATM):c.4571T>A (p.Leu1524His)	472	ATM	Uncertain significance	1555099971	RCV000628042;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163480	108163480	11:g.108163480T>A	ClinGen:CA382533894	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4574T>C (p.Ile1525Thr)	472	ATM	Uncertain significance	755274980	RCV000213938\|RCV000798269;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163483	108163483	11:g.108163483T>C	ClinGen:CA6265496	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4575dup (p.Pro1526fs)	472	ATM	Likely pathogenic	2135801723	RCV001527655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163483	108163484	108163483	-
NM_000051.4(ATM):c.4575A>T (p.Ile1525=)	472	ATM	Likely benign	781539071	RCV000166485\|RCV000427026\|RCV000476448\|RCV001721082;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108163484	108163484	11:g.108163484A>T	ClinGen:CA196002	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4575A>G (p.Ile1525Met)	472	ATM	Uncertain significance	781539071	RCV001341971\|RCV003169632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163484	108163484	108163484	-
NM_000051.4(ATM):c.4576C>T (p.Pro1526Ser)	472	ATM	Conflicting interpretations of pathogenicity	748898098	RCV000213546\|RCV000824580;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163485	108163485	11:g.108163485C>T	ClinGen:CA10579155	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4576C>A (p.Pro1526Thr)	472	ATM	Uncertain significance	748898098	RCV000458153\|RCV000763703\|RCV001022727;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163485	108163485	NC_000011.9:g.108163485C>A	ClinGen:CA6265497	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4579del (p.Val1528fs)	472	ATM	Pathogenic	1565461674	RCV000695878;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163485	108163485	11:g.108163485_108163485del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4576_4577insT (p.Pro1526fs)	472	ATM	Pathogenic	1591674707	RCV001022726\|RCV002550003;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163485	108163486	11:g.108163485_108163486insT	-
NM_000051.4(ATM):c.4576C>G (p.Pro1526Ala)	472	ATM	Uncertain significance	748898098	RCV001995368;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163485	108163485	108163485	-
NM_000051.4(ATM):c.4577C>A (p.Pro1526His)	472	ATM	Uncertain significance	770590652	RCV000472276\|RCV000570264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163486	108163486	NC_000011.9:g.108163486C>A	ClinGen:CA16613359	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4577C>T (p.Pro1526Leu)	472	ATM	Uncertain significance	770590652	RCV000579721\|RCV001240479;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163486	108163486	NC_000011.9:g.108163486C>T	ClinGen:CA6265498	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4577_4578delinsTT (p.Pro1526Leu)	472	ATM	Uncertain significance	1591674732	RCV000823590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163486	108163487	NC_000011.9:g.108163486_108163487delinsTT	-
NM_000051.4(ATM):c.4578C>T (p.Pro1526=)	472	ATM	Benign/Likely benign	1800889	RCV000116426\|RCV000119133\|RCV000162381\|RCV001356512\|RCV001705826\|RCV002225337\|RCV003315663;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108163487	108163487	11:g.108163487C>T	ClinGen:CA151926	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4579C>G (p.Leu1527Val)	472	ATM	Uncertain significance	1555099997	RCV000564173\|RCV002528099\|RCV003465227;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163488	108163488	NC_000011.9:g.108163488C>G	ClinGen:CA382533926	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4579C>T (p.Leu1527Phe)	472	ATM	Uncertain significance	1555099997	RCV001279127\|RCV002339704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163488	108163488	11:g.108163488C>T	-
NM_000051.4(ATM):c.4584_4585del (p.Val1528_Tyr1529insTer)	472	ATM	Pathogenic	2135802014	RCV001960372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163490	108163491	108163489	-
NM_000051.4(ATM):c.4584G>T (p.Val1528=)	472	ATM	Likely benign	1555100000	RCV000615521\|RCV002065260;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163493	108163493	11:g.108163493G>T	ClinGen:CA476674245	CN169374 not specified;
NM_000051.4(ATM):c.4584G>A (p.Val1528=)	472	ATM	Likely benign	1555100000	RCV000777132\|RCV001418050;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163493	108163493	NC_000011.9:g.108163493G>A	-
NM_000051.4(ATM):c.4586A>G (p.Tyr1529Cys)	472	ATM	Uncertain significance	1365089723	RCV000689324\|RCV003465568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163495	108163495	NC_000011.9:g.108163495A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4587T>G (p.Tyr1529Ter)	472	ATM	Pathogenic	1555100005	RCV000575921\|RCV000627912\|RCV002289774;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163496	108163496	11:g.108163496T>G	ClinGen:CA382533971	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4587T>A (p.Tyr1529Ter)	472	ATM	Pathogenic	1555100005	RCV001950995;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163496	108163496	108163496	-
NM_000051.4(ATM):c.4588G>T (p.Glu1530Ter)	472	ATM	Pathogenic/Likely pathogenic	864622479	RCV000204978\|RCV001022740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163497	108163497	NC_000011.9:g.108163497G>T	ClinGen:CA349160	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4589A>C (p.Glu1530Ala)	472	ATM	Uncertain significance	2082872800	RCV001052734;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163498	108163498	11:g.108163498A>C	-
NM_000051.4(ATM):c.4591C>T (p.Gln1531Ter)	472	ATM	Pathogenic/Likely pathogenic	2082872908	RCV001040433\|RCV001805986\|RCV003461453\|RCV003226422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C0006142	11	108163500	108163500	11:g.108163500C>T	-
NM_000051.4(ATM):c.4593G>A (p.Gln1531=)	472	ATM	Likely benign	1591674814	RCV000886138\|RCV001022753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163502	108163502	11:g.108163502G>A	-
NM_000051.4(ATM):c.4594G>A (p.Val1532Met)	472	ATM	Uncertain significance	2135802444	RCV002012238;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163503	108163503	108163503	-
NM_000051.4(ATM):c.4600_4605del (p.Val1534_Gln1535del)	472	ATM	Uncertain significance	768183241	RCV001022767\|RCV001194301\|RCV001832353\|RCV002489525;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108163507	108163512	11:g.108163507_108163512del	-
NM_000051.4(ATM):c.4599G>A (p.Glu1533=)	472	ATM	Likely benign	1274454004	RCV001179859\|RCV001504169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163508	108163508	11:g.108163508G>A	-
NM_000051.4(ATM):c.4600G>T (p.Val1534Phe)	472	ATM	Uncertain significance	745351684	RCV000551099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163509	108163509	11:g.108163509G>T	ClinGen:CA6265500	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4603C>T (p.Gln1535Ter)	472	ATM	Pathogenic	771549673	RCV001932179;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163512	108163512	108163512	-
NM_000051.4(ATM):c.4605G>C (p.Gln1535His)	472	ATM	Uncertain significance	-1	RCV002301817;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163514	108163514	108163514	-
NM_000051.4(ATM):c.4605G>A (p.Gln1535=)	472	ATM	Likely benign	-1	RCV002820621;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163514	108163514		-
NM_000051.4(ATM):c.4606A>G (p.Lys1536Glu)	472	ATM	Conflicting interpretations of pathogenicity	587779841	RCV000115198\|RCV000465699\|RCV000679122\|RCV003114258;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108163515	108163515	NC_000011.9:g.108163515A>G	ClinGen:CA286858	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4609C>T (p.Gln1537Ter)	472	ATM	Pathogenic	1555100037	RCV000534060\|RCV002341234;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163518	108163518	11:g.108163518C>T	ClinGen:CA382534097	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4610A>T (p.Gln1537Leu)	472	ATM	Uncertain significance	1064794041	RCV000479699\|RCV001856836;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163519	108163519	11:g.108163519A>T	ClinGen:CA16619186	CN169374 not specified;
NM_000051.4(ATM):c.4610A>G (p.Gln1537Arg)	472	ATM	Uncertain significance	1064794041	RCV001237451;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163519	108163519	11:g.108163519A>G	-
NM_000051.4(ATM):c.4611+1del	472	ATM	Likely pathogenic	1565461824	RCV000777457\|RCV002536722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163520	108163520	NC_000011.9:g.108163521del	-
NM_000051.4(ATM):c.4611_4611+9del	472	ATM	Likely pathogenic	780969040	RCV001987037;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163520	108163529	108163519	-
NM_000051.4(ATM):c.4611+1G>A	472	ATM	Likely pathogenic	1565461840	RCV000696736\|RCV000994708;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108163521	108163521	11:g.108163521G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4611+3A>G	472	ATM	Uncertain significance	2082874444	RCV001058352\|RCV003283926\|RCV003467791;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108163523	108163523	11:g.108163523A>G	-
NM_000051.4(ATM):c.4611+3A>C	472	ATM	Uncertain significance	2082874444	RCV001320170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163523	108163523	108163523	-
NM_000051.4(ATM):c.4611+4A>G	472	ATM	Uncertain significance	1591674933	RCV000819864\|RCV002336701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163524	108163524	11:g.108163524A>G	-
NM_000051.4(ATM):c.4611+6T>C	472	ATM	Uncertain significance	1555100047	RCV000527077\|RCV001178339;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108163526	108163526	NC_000011.9:g.108163526T>C	ClinGen:CA658656188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4611+8T>C	472	ATM	Likely benign	1057522426	RCV000422619\|RCV001406271;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163528	108163528	11:g.108163528T>C	ClinGen:CA16606812	CN169374 not specified;
NM_000051.4(ATM):c.4611+8T>G	472	ATM	Likely benign	1057522426	RCV000773792\|RCV001414016;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163528	108163528	NC_000011.9:g.108163528T>G	-
NM_000051.4(ATM):c.4611+9C>G	472	ATM	Conflicting interpretations of pathogenicity	760704159	RCV000443681\|RCV000590322\|RCV000773191\|RCV001089223;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163529	108163529	11:g.108163529C>G	ClinGen:CA6265503	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4611+10T>A	472	ATM	Likely benign	-1	RCV002825307;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163530	108163530	NC_000011.9:g.108163530T>A	-
NM_000051.4(ATM):c.4611+11G>T	472	ATM	Likely benign	2135803264	RCV002150150;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163531	108163531	108163531	-
NM_000051.4(ATM):c.4611+12A>G	472	ATM	Likely benign	1057520230	RCV000426714\|RCV002524752;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163532	108163532	11:g.108163532A>G	ClinGen:CA16606814	CN169374 not specified;
NM_000051.4(ATM):c.4611+12A>T	472	ATM	Likely benign	-1	RCV002820197;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163532	108163532	NC_000011.9:g.108163532A>T	-
NM_000051.4(ATM):c.4611+14T>G	472	ATM	Likely benign	1270804277	RCV001181243\|RCV002068288;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163534	108163534	11:g.108163534T>G	-
NM_000051.4(ATM):c.4611+14T>C	472	ATM	Likely benign	-1	RCV002858456;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163534	108163534	NC_000011.9:g.108163534T>C	-
NM_000051.4(ATM):c.4611+15C>G	472	ATM	Likely benign	-1	RCV003008545;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163535	108163535	NC_000011.9:g.108163535C>G	-
NM_000051.4(ATM):c.4611+16A>G	472	ATM	Likely benign	2082875990	RCV002164138;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163536	108163536	108163536	-
NM_000051.4(ATM):c.4611+17T>C	472	ATM	Likely benign	768500911	RCV002084054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163537	108163537	108163537	-
NM_000051.4(ATM):c.4611+17T>A	472	ATM	Likely benign	-1	RCV003030807;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163537	108163537	NC_000011.9:g.108163537T>A	-
NM_000051.4(ATM):c.4611+18C>G	472	ATM	Likely benign	-1	RCV002794946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163538	108163538	NC_000011.9:g.108163538C>G	-
NM_000051.4(ATM):c.4611+19T>C	472	ATM	Likely benign	776602821	RCV000444939\|RCV000580073\|RCV002061657;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108163539	108163539	11:g.108163539T>C	ClinGen:CA6265505	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4612-32_4612-30del	472	ATM	Likely benign	113149503	RCV000670203;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164008	108164010	11:g.108164008_108164010del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108164020)_(108236235_?)del	472	ATM	Pathogenic	-1	RCV001963197;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164020	108236235	-1	-
NM_000051.4(ATM):c.4612-19C>T	472	ATM	Benign	1336477936	RCV000988685;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164021	108164021	11:g.108164021C>T	-
NM_000051.4(ATM):c.4612-19C>A	472	ATM	Likely benign	1336477936	RCV002131018;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164021	108164021	108164021	-
NM_000051.4(ATM):c.4612-17T>C	472	ATM	Likely benign	550966528	RCV000581575\|RCV002060603;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164023	108164023	11:g.108164023T>C	ClinGen:CA6265515	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4612-13A>T	472	ATM	Benign	1267116629	RCV000988686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164027	108164027	11:g.108164027A>T	-
NM_000051.4(ATM):c.4612-12A>T	472	ATM	Benign/Likely benign	1326401118	RCV000988687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164028	108164028	11:g.108164028A>T	-
NM_000051.4(ATM):c.4612-11A>T	472	ATM	Benign	1217349031	RCV000988688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164029	108164029	11:g.108164029A>T	-
NM_000051.4(ATM):c.4612-10T>C	472	ATM	Likely benign	2135809073	RCV002146584;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164030	108164030	108164030	-
NM_000051.4(ATM):c.4612-8A>G	472	ATM	Conflicting interpretations of pathogenicity	1555100341	RCV000628302\|RCV002256419;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164032	108164032	NC_000011.9:g.108164032A>G	ClinGen:CA658797723	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4612-6A>G	472	ATM	Likely benign	2135809248	RCV002203089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164034	108164034	108164034	-
NM_000051.4(ATM):c.4612-4T>G	472	ATM	Conflicting interpretations of pathogenicity	569983068	RCV000222370\|RCV000539535\|RCV001596995;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164036	108164036	11:g.108164036T>G	ClinGen:CA6265519	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4612-4T>A	472	ATM	Likely benign	569983068	RCV001428946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164036	108164036	108164036	-
NM_000051.4(ATM):c.4612-2A>C	472	ATM	Likely pathogenic	1555100347	RCV000667617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164038	108164038	11:g.108164038A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4612-1G>A	472	ATM	Likely pathogenic	1555100351	RCV000666061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164039	108164039	11:g.108164039G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4612G>T (p.Val1538Leu)	472	ATM	Conflicting interpretations of pathogenicity	1034235291	RCV000628017\|RCV001562374\|RCV002334041;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164040	108164040	NC_000011.9:g.108164040G>T	ClinGen:CA228379070	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4612G>C (p.Val1538Leu)	472	ATM	Uncertain significance	1034235291	RCV000771752\|RCV001306080;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164040	108164040	NC_000011.9:g.108164040G>C	-
NM_000051.4(ATM):c.4615T>C (p.Leu1539=)	472	ATM	Likely benign	976206782	RCV000445246\|RCV000547466\|RCV001022783;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164043	108164043	11:g.108164043T>C	ClinGen:CA16606191	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4618G>T (p.Asp1540Tyr)	472	ATM	Uncertain significance	778622948	RCV000627940\|RCV002334040;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164046	108164046	11:g.108164046G>T	ClinGen:CA6265520	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4618G>A (p.Asp1540Asn)	472	ATM	Uncertain significance	778622948	RCV001022791\|RCV001276192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164046	108164046	11:g.108164046G>A	-
NM_000051.4(ATM):c.4618G>C (p.Asp1540His)	472	ATM	Uncertain significance	778622948	RCV001049601\|RCV002339251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164046	108164046	11:g.108164046G>C	-
NM_000051.4(ATM):c.4620C>T (p.Asp1540=)	472	ATM	Likely benign	1329153013	RCV000566846\|RCV001201261\|RCV001434144;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164048	108164048	11:g.108164048C>T	ClinGen:CA476674370	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4622del (p.Leu1541fs)	472	ATM	Pathogenic	2135809766	RCV002037716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164049	108164049	108164048	-
NM_000051.4(ATM):c.4625dup (p.Leu1542fs)	472	ATM	Pathogenic/Likely pathogenic	730881304	RCV000159633\|RCV001058399\|RCV002326916\|RCV003462067;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164051	108164052	NC_000011.9:g.108164053dup	ClinGen:CA298018	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4623G>T (p.Leu1541Phe)	472	ATM	Uncertain significance	3092849	RCV000217664\|RCV001320271;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164051	108164051	11:g.108164051G>T	ClinGen:CA10579156,UniProtKB:Q13315#VAR_056686	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4624T>C (p.Leu1542=)	472	ATM	Likely benign	876658826	RCV000217441\|RCV002057191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164052	108164052	11:g.108164052T>C	ClinGen:CA10579157	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4626G>A (p.Leu1542=)	472	ATM	Benign/Likely benign	786202784	RCV000165771\|RCV000205249\|RCV000615011\|RCV000679123;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108164054	108164054	11:g.108164054G>A	ClinGen:CA194179	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4626_4632del (p.Leu1542fs)	472	ATM	Pathogenic	2135810015	RCV002002360;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164054	108164060	108164053	-
NM_000051.4(ATM):c.4629A>G (p.Lys1543=)	472	ATM	Likely benign	745565564	RCV000563295\|RCV000628001;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164057	108164057	11:g.108164057A>G	ClinGen:CA6265521	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4632_4635del (p.Lys1543_Tyr1544insTer)	472	ATM	Pathogenic	1064794236	RCV000481245\|RCV000493466\|RCV000697122\|RCV001310116;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164058	108164061	11:g.108164058_108164061del	ClinGen:CA16619187	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4630T>C (p.Tyr1544His)	472	ATM	Uncertain significance	771554153	RCV000570249\|RCV000689464;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164058	108164058	NC_000011.9:g.108164058T>C	ClinGen:CA6265522	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4631A>G (p.Tyr1544Cys)	472	ATM	Uncertain significance	779718362	RCV000236361\|RCV000471874\|RCV000566756\|RCV000780886\|RCV003469180;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164059	108164059	11:g.108164059A>G	ClinGen:CA6265523	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4632C>T (p.Tyr1544=)	472	ATM	Likely benign	2135810212	RCV002086087;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164060	108164060	108164060	-
NM_000051.4(ATM):c.4637_4642del (p.Val1546_Ile1547del)	472	ATM	Uncertain significance	2135810241	RCV001968809;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164062	108164067	108164061	-
NM_000051.4(ATM):c.4635A>G (p.Leu1545=)	472	ATM	Likely benign	2135810263	RCV001452696;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164063	108164063	108164063	-
NM_000051.4(ATM):c.4636G>A (p.Val1546Met)	472	ATM	Uncertain significance	1305696123	RCV000628125\|RCV001185808;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164064	108164064	11:g.108164064G>A	ClinGen:CA382534615	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4642_4645del (p.Asp1548fs)	472	ATM	Pathogenic	876659535	RCV000214019\|RCV000627874\|RCV001357910\|RCV002279717;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164066	108164069	11:g.108164066_108164069del	ClinGen:CA10579158	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4639A>G (p.Ile1547Val)	472	ATM	Uncertain significance	537377433	RCV000528025\|RCV000564870\|RCV003464121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164067	108164067	11:g.108164067A>G	ClinGen:CA6265524	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4639A>T (p.Ile1547Leu)	472	ATM	Uncertain significance	537377433	RCV000773332\|RCV001336600\|RCV001550569\|RCV003461030;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164067	108164067	NC_000011.9:g.108164067A>T	-
NM_000051.4(ATM):c.4640T>C (p.Ile1547Thr)	472	ATM	Uncertain significance	1555100432	RCV000565964\|RCV001054415\|RCV001528548;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164068	108164068	11:g.108164068T>C	ClinGen:CA382534624	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4643A>T (p.Asp1548Val)	472	ATM	Uncertain significance	1448017467	RCV000540451\|RCV002341235\|RCV003330745;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164071	108164071	11:g.108164071A>T	ClinGen:CA382534632	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4643A>G (p.Asp1548Gly)	472	ATM	Uncertain significance	-1	RCV003025678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164071	108164071	NC_000011.9:g.108164071A>G	-
NM_000051.4(ATM):c.4645A>G (p.Asn1549Asp)	472	ATM	Uncertain significance	-1	RCV002335049\|RCV003096402;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164073	108164073	108164073	-
NM_000051.4(ATM):c.4647C>G (p.Asn1549Lys)	472	ATM	Uncertain significance	1300874775	RCV001022833\|RCV001228771;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164075	108164075	11:g.108164075C>G	-
NM_000051.4(ATM):c.4647C>T (p.Asn1549=)	472	ATM	Likely benign	1300874775	RCV002116352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164075	108164075	108164075	-
NM_000051.4(ATM):c.4650G>T (p.Lys1550Asn)	472	ATM	Uncertain significance	876660003	RCV000213547\|RCV001853602;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164078	108164078	11:g.108164078G>T	ClinGen:CA10579159	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4653_4672dup (p.Thr1558fs)	472	ATM	Pathogenic	2082915385	RCV001063976;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164079	108164080	11:g.108164079_108164080insATAATGAAAACCTCTATATC	-
NM_000051.4(ATM):c.4652A>G (p.Asp1551Gly)	472	ATM	Uncertain significance	1555100455	RCV000575665\|RCV001373482\|RCV001821682;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108164080	108164080	11:g.108164080A>G	ClinGen:CA382534654	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4655A>G (p.Asn1552Ser)	472	ATM	Uncertain significance	2135810797	RCV001372330;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164083	108164083	108164083	-
NM_000051.4(ATM):c.4656T>C (p.Asn1552=)	472	ATM	Likely benign	876658379	RCV000223582\|RCV000439105\|RCV000923583;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164084	108164084	11:g.108164084T>C	ClinGen:CA10579160	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4658A>C (p.Glu1553Ala)	472	ATM	Uncertain significance	587778075	RCV000120140\|RCV000166074\|RCV000200014\|RCV000656761\|RCV003467069;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164086	108164086	11:g.108164086A>C	ClinGen:CA157122	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4661del (p.Asn1554fs)	472	ATM	Pathogenic/Likely pathogenic	1064793390	RCV000487368\|RCV000693178\|RCV001525072\|RCV003470531;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164086	108164086	NC_000011.9:g.108164089del	ClinGen:CA16619188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4662C>A (p.Asn1554Lys)	472	ATM	Uncertain significance	776761757	RCV000554068;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164090	108164090	11:g.108164090C>A	ClinGen:CA6265525	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4663C>T (p.Leu1555Phe)	472	ATM	Uncertain significance	1555100478	RCV000583054\|RCV001051708;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164091	108164091	11:g.108164091C>T	ClinGen:CA382534682	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4664del (p.Leu1555fs)	472	ATM	Pathogenic/Likely pathogenic	876659039	RCV000214193\|RCV000667950;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164092	108164092	11:g.108164092_108164092del	ClinGen:CA10579161	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4664T>A (p.Leu1555His)	472	ATM	Uncertain significance	1060501524	RCV000462975\|RCV000563862\|RCV001821248\|RCV003221988;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108164092	108164092	NC_000011.9:g.108164092T>A	ClinGen:CA16613147	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4664T>C (p.Leu1555Pro)	472	ATM	Uncertain significance	1060501524	RCV001214439\|RCV003469362;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164092	108164092	11:g.108164092T>C	-
NM_000051.4(ATM):c.4665C>T (p.Leu1555=)	472	ATM	Conflicting interpretations of pathogenicity	374431061	RCV000163519\|RCV000330293\|RCV000725936\|RCV001081281;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164093	108164093	11:g.108164093C>T	ClinGen:CA188508	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4665C>G (p.Leu1555=)	472	ATM	Likely benign	374431061	RCV002166539\|RCV002337381;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164093	108164093	108164093	-
NM_000051.4(ATM):c.4666T>C (p.Tyr1556His)	472	ATM	Uncertain significance	587781320	RCV000129059\|RCV000530097\|RCV000587733;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164094	108164094	11:g.108164094T>C	ClinGen:CA163737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4667A>G (p.Tyr1556Cys)	472	ATM	Uncertain significance	587782037	RCV000130496\|RCV000668986\|RCV001546817\|RCV003327370;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164095	108164095	11:g.108164095A>G	ClinGen:CA166536	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4667A>C (p.Tyr1556Ser)	472	ATM	Uncertain significance	587782037	RCV001248610\|RCV002339693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164095	108164095	11:g.108164095A>C	-
NM_000051.4(ATM):c.4667A>T (p.Tyr1556Phe)	472	ATM	Uncertain significance	-1	RCV002988672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164095	108164095	NC_000011.9:g.108164095A>T	-
NM_000051.4(ATM):c.4668T>C (p.Tyr1556=)	472	ATM	Likely benign	766438805	RCV000218541\|RCV000432095\|RCV001403759;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164096	108164096	11:g.108164096T>C	ClinGen:CA10579162	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4668T>G (p.Tyr1556Ter)	472	ATM	Pathogenic	766438805	RCV001050385\|RCV003155965;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164096	108164096	11:g.108164096T>G	-
NM_000051.4(ATM):c.4668T>A (p.Tyr1556Ter)	472	ATM	Pathogenic	766438805	RCV001381790\|RCV002341824;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164096	108164096	108164096	-
NM_000051.4(ATM):c.4669del (p.Ile1557fs)	472	ATM	Pathogenic	1591677254	RCV000821317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164097	108164097	11:g.108164097_108164097del	-
NM_000051.4(ATM):c.4669A>G (p.Ile1557Val)	472	ATM	Uncertain significance	2135811264	RCV001904529;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164097	108164097	108164097	-
NM_000051.4(ATM):c.4670T>A (p.Ile1557Asn)	472	ATM	Uncertain significance	2082917922	RCV001045739\|RCV001178774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164098	108164098	11:g.108164098T>A	-
NM_000051.4(ATM):c.4671C>G (p.Ile1557Met)	472	ATM	Uncertain significance	966733287	RCV001239825\|RCV002339665\|RCV003156325;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108164099	108164099	11:g.108164099C>G	-
NM_000051.4(ATM):c.4671C>A (p.Ile1557=)	472	ATM	Likely benign	966733287	RCV002154253;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164099	108164099	108164099	-
NM_000051.4(ATM):c.4673C>T (p.Thr1558Met)	472	ATM	Uncertain significance	587781712	RCV000129888\|RCV000212020\|RCV000542530\|RCV000763704\|RCV002222401\|RCV003315232\|RCV003467125;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108164101	108164101	11:g.108164101C>T	ClinGen:CA294134	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4673C>A (p.Thr1558Lys)	472	ATM	Uncertain significance	587781712	RCV001298027\|RCV002341585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164101	108164101	108164101	-
NM_000051.4(ATM):c.4674G>A (p.Thr1558=)	472	ATM	Benign/Likely benign	876658474	RCV000213489\|RCV000231194\|RCV000589417\|RCV001712000;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108164102	108164102	11:g.108164102G>A	ClinGen:CA10579163	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4677T>A (p.Ile1559=)	472	ATM	Likely benign	759660081	RCV000205058\|RCV000220670\|RCV002057050;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108164105	108164105	NC_000011.9:g.108164105T>A	ClinGen:CA349225	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4677T>C (p.Ile1559=)	472	ATM	Likely benign	759660081	RCV000219485\|RCV001434695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164105	108164105	11:g.108164105T>C	ClinGen:CA6265528	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4678A>G (p.Lys1560Glu)	472	ATM	Uncertain significance	767981230	RCV000555039\|RCV002341236;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164106	108164106	NC_000011.9:g.108164106A>G	ClinGen:CA382534733	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4678A>C (p.Lys1560Gln)	472	ATM	Uncertain significance	767981230	RCV000820874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164106	108164106	11:g.108164106A>C	-
NM_000051.4(ATM):c.4680G>C (p.Lys1560Asn)	472	ATM	Uncertain significance	2135811674	RCV002020336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164108	108164108	108164108	-
NM_000051.4(ATM):c.4680G>A (p.Lys1560=)	472	ATM	Likely benign	2135811674	RCV002091505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164108	108164108	108164108	-
NM_000051.4(ATM):c.4681C>T (p.Leu1561Phe)	472	ATM	Uncertain significance	1591677342	RCV001022888\|RCV001050888\|RCV001772196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164109	108164109	11:g.108164109C>T	-
NM_000051.4(ATM):c.4681C>G (p.Leu1561Val)	472	ATM	Uncertain significance	1591677342	RCV001048151;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164109	108164109	11:g.108164109C>G	-
NM_000051.4(ATM):c.4683_4689del (p.Asp1563fs)	472	ATM	Pathogenic	886039515	RCV000255791\|RCV001055138\|RCV003352817;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164110	108164116	11:g.108164110_108164116del	ClinGen:CA10588502	CN517202 not provided;
NM_000051.4(ATM):c.4682T>C (p.Leu1561Pro)	472	ATM	Uncertain significance	2135811719	RCV001866941\|RCV003228007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164110	108164110	108164110	-
NM_000051.4(ATM):c.4685del (p.Leu1561_Leu1562insTer)	472	ATM	Pathogenic	-1	RCV002938403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164110	108164110	NC_000011.9:g.108164113del	-
NM_000051.4(ATM):c.4683T>C (p.Leu1561=)	472	ATM	Likely benign	2135811760	RCV002113947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164111	108164111	108164111	-
NM_000051.4(ATM):c.4687G>A (p.Asp1563Asn)	472	ATM	Uncertain significance	1464587365	RCV000565198\|RCV001246849;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164115	108164115	11:g.108164115G>A	ClinGen:CA382534779	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4687G>C (p.Asp1563His)	472	ATM	Uncertain significance	1464587365	RCV000774861\|RCV002536690;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164115	108164115	NC_000011.9:g.108164115G>C	-
NM_000051.4(ATM):c.4690C>A (p.Pro1564Thr)	472	ATM	Uncertain significance	1490905322	RCV001950165;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164118	108164118	108164118	-
NM_000051.4(ATM):c.4691C>T (p.Pro1564Leu)	472	ATM	Uncertain significance	1064793971	RCV000822197;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164119	108164119	11:g.108164119C>T	-
NM_000051.4(ATM):c.4695del (p.Pro1566fs)	472	ATM	Likely pathogenic	1057517452	RCV000411883;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164120	108164120	NC_000011.9:g.108164123del	ClinGen:CA16041411	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4698T>C (p.Pro1566=)	472	ATM	Likely benign	-1	RCV002810259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164126	108164126		-
NM_000051.4(ATM):c.4699G>A (p.Asp1567Asn)	472	ATM	Uncertain significance	876659069	RCV000213195\|RCV001215314\|RCV003462458;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164127	108164127	11:g.108164127G>A	ClinGen:CA10579164	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4702C>T (p.His1568Tyr)	472	ATM	Uncertain significance	753269143	RCV000165250\|RCV000531059\|RCV002273966\|RCV003468736;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164130	108164130	11:g.108164130C>T	ClinGen:CA192867	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4703A>G (p.His1568Arg)	472	ATM	Conflicting interpretations of pathogenicity	368830730	RCV000131606\|RCV000167871\|RCV000480209\|RCV001355688\|RCV001798455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562	11	108164131	108164131	11:g.108164131A>G	ClinGen:CA168443	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4704T>C (p.His1568=)	472	ATM	Likely benign	1057522200	RCV000978259\|RCV001408743\|RCV002339041;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164132	108164132	11:g.108164132T>C	ClinGen:CA16606818	CN169374 not specified;
NM_000051.4(ATM):c.4705G>T (p.Val1569Phe)	472	ATM	Uncertain significance	-1	RCV002861668;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164133	108164133	NC_000011.9:g.108164133G>T	-
NM_000051.4(ATM):c.4706T>C (p.Val1569Ala)	472	ATM	Uncertain significance	1555100549	RCV001061792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164134	108164134	11:g.108164134T>C	-
NM_000051.4(ATM):c.4707T>G (p.Val1569=)	472	ATM	Likely benign	1591677478	RCV001395397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164135	108164135	11:g.108164135T>G	-
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala)	472	ATM	Conflicting interpretations of pathogenicity	140856217	RCV000115199\|RCV000122851\|RCV000212021\|RCV000586056\|RCV001197709\|RCV001354496\|RCV001798317;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C000	11	108164137	108164137	NC_000011.9:g.108164137T>C	ClinGen:CA286861,UniProtKB:Q13315#VAR_010828	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4716G>C (p.Lys1572Asn)	472	ATM	Uncertain significance	786203953	RCV000167478\|RCV002515184;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164144	108164144	11:g.108164144G>C	ClinGen:CA198417	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4719T>G (p.Asp1573Glu)	472	ATM	Uncertain significance	-1	RCV003012008;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164147	108164147	NC_000011.9:g.108164147T>G	-
NM_000051.4(ATM):c.4723C>A (p.Arg1575Ser)	472	ATM	Uncertain significance	1408892416	RCV000816892;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164151	108164151	11:g.108164151C>A	-
NM_000051.4(ATM):c.4723C>T (p.Arg1575Cys)	472	ATM	Uncertain significance	1408892416	RCV001022954\|RCV001235782;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164151	108164151	11:g.108164151C>T	-
NM_000051.4(ATM):c.4723C>G (p.Arg1575Gly)	472	ATM	Uncertain significance	1408892416	RCV001308053\|RCV002341615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164151	108164151	108164151	-
NM_000051.4(ATM):c.4724G>A (p.Arg1575His)	472	ATM	Conflicting interpretations of pathogenicity	550552791	RCV000159727\|RCV000204984\|RCV000587149\|RCV001268973\|RCV001250435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164152	108164152	NC_000011.9:g.108164152G>A	ClinGen:CA298254	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4729A>G (p.Thr1577Ala)	472	ATM	Uncertain significance	-1	RCV002913002;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164157	108164157	NC_000011.9:g.108164157A>G	-
NM_000051.4(ATM):c.4730C>T (p.Thr1577Ile)	472	ATM	Uncertain significance	2135812963	RCV001930417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164158	108164158	108164158	-
NM_000051.4(ATM):c.4731T>C (p.Thr1577=)	472	ATM	Likely benign	145236132	RCV000164525\|RCV000195432\|RCV000437434\|RCV001086267;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164159	108164159	11:g.108164159T>C	ClinGen:CA191175	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4731T>A (p.Thr1577=)	472	ATM	Likely benign	145236132	RCV000433267\|RCV000776554\|RCV001453162\|RCV001696760;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164159	108164159	11:g.108164159T>A	ClinGen:CA16606084	CN169374 not specified;
NM_000051.4(ATM):c.4732C>T (p.Gln1578Ter)	472	ATM	Pathogenic/Likely pathogenic	746499337	RCV000409906\|RCV003168592\|RCV003470336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164160	108164160	NC_000011.9:g.108164160C>T	ClinGen:CA6265531	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4733A>G (p.Gln1578Arg)	472	ATM	Uncertain significance	2082922811	RCV001240124\|RCV001526208;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164161	108164161	11:g.108164161A>G	-
NM_000051.4(ATM):c.4735C>T (p.Gln1579Ter)	472	ATM	Pathogenic/Likely pathogenic	869312755	RCV000210197\|RCV000234068\|RCV000255389;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164163	108164163	NC_000011.9:g.108164163C>T	ClinGen:CA353545	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4741dup (p.Ile1581fs)	472	ATM	Conflicting interpretations of pathogenicity	864622164	RCV000543529\|RCV000561093\|RCV000657386;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108164163	108164164	11:g.108164163_108164164insA	ClinGen:CA349467	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4741del (p.Ile1581fs)	472	ATM	Likely pathogenic	864622164	RCV001580632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164164	108164164	108164163	-
NM_000051.4(ATM):c.4738A>G (p.Lys1580Glu)	472	ATM	Uncertain significance	1591677635	RCV000795190;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164166	108164166	11:g.108164166A>G	-
NM_000051.4(ATM):c.4740A>C (p.Lys1580Asn)	472	ATM	Uncertain significance	2082923397	RCV001201831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164168	108164168	11:g.108164168A>C	-
NM_000051.4(ATM):c.4740A>G (p.Lys1580=)	472	ATM	Likely benign	2082923397	RCV002199634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164168	108164168	108164168	-
NM_000051.4(ATM):c.4741A>G (p.Ile1581Val)	472	ATM	Uncertain significance	1565463271	RCV000703805\|RCV002334374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164169	108164169	NC_000011.9:g.108164169A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4741_4742delinsG (p.Ile1581fs)	472	ATM	Pathogenic	-1	RCV003162138\|RCV003114920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164169	108164170	NC_000011.9:g.108164169_108164170delinsG	-
NM_000051.4(ATM):c.4743C>G (p.Ile1581Met)	472	ATM	Uncertain significance	1591677662	RCV001022979\|RCV002551866;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164171	108164171	11:g.108164171C>G	-
NM_000051.4(ATM):c.4746A>G (p.Lys1582=)	472	ATM	Likely benign	1555100593	RCV000575341\|RCV000611561\|RCV001294586;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164174	108164174	11:g.108164174A>G	ClinGen:CA476674465	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4749C>T (p.Tyr1583=)	472	ATM	Likely benign	1555100597	RCV000560475\|RCV000565518;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164177	108164177	11:g.108164177C>T	ClinGen:CA476674466	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4751G>A (p.Ser1584Asn)	472	ATM	Uncertain significance	1591677692	RCV000805222;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164179	108164179	11:g.108164179G>A	-
NM_000051.4(ATM):c.4751G>T (p.Ser1584Ile)	472	ATM	Uncertain significance	1591677692	RCV001974353\|RCV002284506;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164179	108164179	108164179	-
NM_000051.4(ATM):c.4752T>C (p.Ser1584=)	472	ATM	Likely benign	1555100601	RCV000574349\|RCV000979740;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164180	108164180	11:g.108164180T>C	ClinGen:CA476674468	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4753A>G (p.Arg1585Gly)	472	ATM	Conflicting interpretations of pathogenicity	781275128	RCV000476841\|RCV000574681\|RCV001355038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	11	108164181	108164181	NC_000011.9:g.108164181A>G	ClinGen:CA6265533	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4756G>A (p.Gly1586Arg)	472	ATM	Uncertain significance	1565463314	RCV000703908\|RCV001022997;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164184	108164184	NC_000011.9:g.108164184G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4761dup (p.Phe1588fs)	472	ATM	Pathogenic	1591677757	RCV001224006;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164186	108164187	11:g.108164186_108164187insC	-
NM_000051.4(ATM):c.4758A>T (p.Gly1586=)	472	ATM	Likely benign	2135813614	RCV001469903\|RCV002329559;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164186	108164186	108164186	-
NM_000051.4(ATM):c.4759C>G (p.Pro1587Ala)	472	ATM	Uncertain significance	786202473	RCV000165298\|RCV000532004\|RCV003162697;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108164187	108164187	11:g.108164187C>G	ClinGen:CA193009	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4759C>A (p.Pro1587Thr)	472	ATM	Uncertain significance	-1	RCV002330642\|RCV003102624;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164187	108164187	108164187	-
NM_000051.4(ATM):c.4760C>A (p.Pro1587His)	472	ATM	Uncertain significance	748044422	RCV001977589\|RCV002334995;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164188	108164188	108164188	-
NM_000051.4(ATM):c.4761C>T (p.Pro1587=)	472	ATM	Benign/Likely benign	769562370	RCV000543326\|RCV000583032\|RCV001712484;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108164189	108164189	11:g.108164189C>T	ClinGen:CA6265535	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4762T>C (p.Phe1588Leu)	472	ATM	Uncertain significance	2082925146	RCV001041453;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164190	108164190	11:g.108164190T>C	-
NM_000051.4(ATM):c.4766C>T (p.Ser1589Leu)	472	ATM	Uncertain significance	2082925270	RCV001071906;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164194	108164194	11:g.108164194C>T	-
NM_000051.4(ATM):c.4767A>G (p.Ser1589=)	472	ATM	Likely benign	1591677805	RCV001396270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164195	108164195	11:g.108164195A>G	-
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe)	472	ATM	Conflicting interpretations of pathogenicity	35962982	RCV000159728\|RCV000196470\|RCV000515177\|RCV000589456\|RCV001257475\|RCV003321521;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Me	11	108164196	108164196	NC_000011.9:g.108164196C>T	ClinGen:CA298257	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4769T>G (p.Leu1590Arg)	472	ATM	Uncertain significance	-1	RCV003012022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164197	108164197	NC_000011.9:g.108164197T>G	-
NM_000051.4(ATM):c.4770C>T (p.Leu1590=)	472	ATM	Likely benign	749475519	RCV000564394\|RCV000560285;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164198	108164198	11:g.108164198C>T	ClinGen:CA6265536	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4770C>A (p.Leu1590=)	472	ATM	Likely benign	749475519	RCV000600606\|RCV001431689\|RCV002331075;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164198	108164198	11:g.108164198C>A	ClinGen:CA476674480	CN169374 not specified;
NM_000051.4(ATM):c.4772T>G (p.Leu1591Trp)	472	ATM	Uncertain significance	1565463381	RCV001177521\|RCV001216284;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164200	108164200	11:g.108164200T>G	-
NM_000051.4(ATM):c.4773G>C (p.Leu1591Phe)	472	ATM	Uncertain significance	1345760669	RCV000572924\|RCV001060286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164201	108164201	11:g.108164201G>C	ClinGen:CA382535203	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4774del (p.Glu1592fs)	472	ATM	Pathogenic	2135814096	RCV001993267;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164201	108164201	108164200	-
NM_000051.4(ATM):c.4775A>C (p.Glu1592Ala)	472	ATM	Uncertain significance	1565463405	RCV001220214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164203	108164203	11:g.108164203A>C	-
NM_000051.4(ATM):c.4775A>G (p.Glu1592Gly)	472	ATM	Uncertain significance	1565463405	RCV000709182;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164203	108164203	NC_000011.9:g.108164203A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4775A>T (p.Glu1592Val)	472	ATM	Pathogenic	-1	RCV002815227;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164203	108164203	NC_000011.9:g.108164203A>T	-
NM_000051.4(ATM):c.4776G>C (p.Glu1592Asp)	472	ATM	Uncertain significance	786202973	RCV000166063\|RCV000548784;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164204	108164204	11:g.108164204G>C	ClinGen:CA194897	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4776G>A (p.Glu1592=)	472	ATM	Uncertain significance	786202973	RCV001046569\|RCV002327293;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164204	108164204	11:g.108164204G>A	-
NM_000051.4(ATM):c.4776+1G>T	472	ATM	Pathogenic/Likely pathogenic	771117943	RCV000573615\|RCV000669160\|RCV001560132\|RCV003470803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164205	108164205	11:g.108164205G>T	ClinGen:CA6265538	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4776+2T>C	472	ATM	Pathogenic	587781927	RCV000003170\|RCV000130284\|RCV000235350\|RCV003467137;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164206	108164206	11:g.108164206T>C	ClinGen:CA249436,OMIM:607585.0014	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4776+2T>A	472	ATM	Pathogenic/Likely pathogenic	587781927	RCV000412136\|RCV000775841\|RCV001030531\|RCV003168593;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013	11	108164206	108164206	11:g.108164206T>A	ClinGen:CA16041412	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4776+2_4776+13del	472	ATM	Pathogenic/Likely pathogenic	762838462	RCV000482221\|RCV000536317\|RCV000582357\|RCV003464008;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108164206	108164217	NC_000011.9:g.108164206_108164217del	ClinGen:CA6265537	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4776+4A>G	472	ATM	Uncertain significance	1591677924	RCV000796938\|RCV002334489;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164208	108164208	11:g.108164208A>G	-
NM_000051.4(ATM):c.4776+10del	472	ATM	Likely benign	878853512	RCV000228742\|RCV001524487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164210	108164210	NC_000011.9:g.108164214del	ClinGen:CA10582821	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4776+6A>C	472	ATM	Uncertain significance	1348555180	RCV002025824;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164210	108164210	108164210	-
NM_000051.4(ATM):c.4776+7A>C	472	ATM	Likely benign	2082927524	RCV001186760\|RCV001476656;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164211	108164211	11:g.108164211A>C	-
NM_000051.4(ATM):c.4776+9A>G	472	ATM	Likely benign	2135814376	RCV002099098;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164213	108164213	108164213	-
NM_000051.4(ATM):c.4776+10A>T	472	ATM	Likely benign	2135814400	RCV001407143;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164214	108164214	108164214	-
NM_000051.4(ATM):c.4776+15A>C	472	ATM	Likely benign	759607134	RCV001182963\|RCV002068343;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164219	108164219	11:g.108164219A>C	-
NM_000051.4(ATM):c.4776+15A>G	472	ATM	Likely benign	-1	RCV002868011;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164219	108164219	NC_000011.9:g.108164219A>G	-
NM_000051.4(ATM):c.4776+23_4776+25del	472	ATM	Likely benign	770860526	RCV000674119\|RCV001182964;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108164224	108164226	11:g.108164224_108164226del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4776+20C>T	472	ATM	Likely benign	-1	RCV003012520;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108164224	108164224	NC_000011.9:g.108164224C>T	-
NM_000051.4(ATM):c.4776+41C>T	472	ATM	Benign	114726455	RCV001714504\|RCV001827587\|RCV002225930\|RCV002465901;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108164245	108164245	108164245	-
NM_000051.4(ATM):c.4777-20A>G	472	ATM	Benign	3218678	RCV000130992\|RCV000251780\|RCV000672214\|RCV001610439\|RCV002225440\|RCV003315900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C03461	11	108165634	108165634	11:g.108165634A>G	ClinGen:CA167512	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4777-16A>G	472	ATM	Likely benign	942981609	RCV001176926\|RCV002559706;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165638	108165638	11:g.108165638A>G	-
NM_000051.4(ATM):c.4777-15C>T	472	ATM	Likely benign	1057521023	RCV000428141\|RCV001188607\|RCV002521583;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165639	108165639	11:g.108165639C>T	ClinGen:CA16605794	CN169374 not specified;
NM_000051.4(ATM):c.4777-10dup	472	ATM	Conflicting interpretations of pathogenicity	1398289633	RCV000480799\|RCV001184313\|RCV001704618\|RCV002056771;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165640	108165641	NC_000011.9:g.108165644dup	ClinGen:CA16619190	CN169374 not specified;
NM_000051.4(ATM):c.4777-10del	472	ATM	Conflicting interpretations of pathogenicity	1398289633	RCV000581200\|RCV002529188;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165641	108165641	11:g.108165641_108165641del	ClinGen:CA658683118	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4777-13T>A	472	ATM	Conflicting interpretations of pathogenicity	371535082	RCV000672245\|RCV001187884\|RCV003153797;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108165641	108165641	11:g.108165641T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4777-7_4777-6del	472	ATM	Uncertain significance	1064794458	RCV000582212\|RCV002530778;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165644	108165645	NC_000011.9:g.108165645CT[1]	ClinGen:CA601721461	C0027672 Hereditary cancer-predisposing syndrome;
NC_000011.10:g.(?_108294917)_(108295069_?)dup	472	ATM	Likely pathogenic	-1	RCV001032705;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165644	108165796	-1	-
NM_000051.4(ATM):c.4777-9C>T	472	ATM	Likely benign	1214975942	RCV001442754\|RCV001806182;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165645	108165645	108165645	-
NM_000051.4(ATM):c.4777-7C>G	472	ATM	Conflicting interpretations of pathogenicity	1565465976	RCV000771421\|RCV002536617;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165647	108165647	NC_000011.9:g.108165647C>G	-
NM_000051.4(ATM):c.4777-7C>T	472	ATM	Conflicting interpretations of pathogenicity	1565465976	RCV001186782\|RCV001489331;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165647	108165647	11:g.108165647C>T	-
NM_000051.4(ATM):c.4777-3dup	472	ATM	Benign	2083032760	RCV001513831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165647	108165648	108165647	-
NM_000051.4(ATM):c.4777-6T>C	472	ATM	Uncertain significance	1565465980	RCV000709183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165648	108165648	NC_000011.9:g.108165648T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4777-4_4777-3del	472	ATM	Uncertain significance	2083032760	RCV001037337\|RCV002258091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165648	108165649	11:g.108165648_108165649del	-
NM_000051.4(ATM):c.4777-4T>C	472	ATM	Conflicting interpretations of pathogenicity	756025941	RCV000562207\|RCV001462822;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165650	108165650	11:g.108165650T>C	ClinGen:CA6265556	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4777-3T>C	472	ATM	Uncertain significance	1468242174	RCV000568823\|RCV000628271;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165651	108165651	NC_000011.9:g.108165651T>C	ClinGen:CA601721465	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4777-1G>A	472	ATM	Likely pathogenic	1591684268	RCV000800294;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165653	108165653	11:g.108165653G>A	-
NM_000051.4(ATM):c.4779A>G (p.Glu1593=)	472	ATM	Likely benign	587778076	RCV000120141\|RCV000164622\|RCV000841327\|RCV001085126;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165656	108165656	11:g.108165656A>G	ClinGen:CA157125	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4780A>G (p.Ile1594Val)	472	ATM	Uncertain significance	1555101615	RCV000575807\|RCV000699368;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165657	108165657	NC_000011.9:g.108165657A>G	ClinGen:CA382536124	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4781T>C (p.Ile1594Thr)	472	ATM	Uncertain significance	1555101621	RCV000563529\|RCV002526818;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165658	108165658	NC_000011.9:g.108165658T>C	ClinGen:CA382536142	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4782T>G (p.Ile1594Met)	472	ATM	Uncertain significance	2135833642	RCV001881860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165659	108165659	108165659	-
NM_000051.4(ATM):c.4784A>G (p.Asn1595Ser)	472	ATM	Uncertain significance	777812804	RCV000231590\|RCV000575403\|RCV000586254\|RCV003469126;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108165661	108165661	NC_000011.9:g.108165661A>G	ClinGen:CA6265557	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4784A>C (p.Asn1595Thr)	472	ATM	Uncertain significance	777812804	RCV001023043\|RCV001048690;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165661	108165661	11:g.108165661A>C	-
NM_000051.4(ATM):c.4785C>A (p.Asn1595Lys)	472	ATM	Uncertain significance	2135833730	RCV001361249;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165662	108165662	108165662	-
NM_000051.4(ATM):c.4790T>G (p.Phe1597Cys)	472	ATM	Uncertain significance	2083034224	RCV001221824;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165667	108165667	11:g.108165667T>G	-
NM_000051.4(ATM):c.4792C>A (p.Leu1598Ile)	472	ATM	Uncertain significance	375190373	RCV000159729\|RCV000198328\|RCV000212024\|RCV000515276\|RCV003317106\|RCV003467233;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108165669	108165669	NC_000011.9:g.108165669C>A	ClinGen:CA298260	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4794C>T (p.Leu1598=)	472	ATM	Likely benign	-1	RCV002330716\|RCV003102632;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165671	108165671		-
NM_000051.4(ATM):c.4800_4803del (p.Ser1601fs)	472	ATM	Pathogenic	1060501659	RCV000474359\|RCV002339150;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165674	108165677	NC_000011.9:g.108165677_108165680del	ClinGen:CA16613061	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4799dup (p.Ser1601fs)	472	ATM	Pathogenic	2135834235	RCV001950875;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165675	108165676	108165675	-
NM_000051.4(ATM):c.4798G>T (p.Val1600Leu)	472	ATM	Uncertain significance	2135834139	RCV001909124;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165675	108165675	108165675	-
NM_000051.4(ATM):c.4798del (p.Ser1599_Val1600insTer)	472	ATM	Pathogenic	2135834179	RCV001904706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165675	108165675	108165674	-
NM_000051.4(ATM):c.4798G>A (p.Val1600Ile)	472	ATM	Uncertain significance	2135834139	RCV001896408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165675	108165675	108165675	-
NM_000051.4(ATM):c.4799T>A (p.Val1600Glu)	472	ATM	Uncertain significance	1591684386	RCV000800966;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165676	108165676	11:g.108165676T>A	-
NM_000051.4(ATM):c.4799T>C (p.Val1600Ala)	472	ATM	Uncertain significance	1591684386	RCV002044239;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165676	108165676	108165676	-
NM_000051.4(ATM):c.4801del (p.Ser1601fs)	472	ATM	Pathogenic	-1	RCV002844005;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165677	108165677	NC_000011.9:g.108165678del	-
NM_000051.4(ATM):c.4801A>G (p.Ser1601Gly)	472	ATM	Uncertain significance	876660520	RCV000221933\|RCV000628015;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165678	108165678	11:g.108165678A>G	ClinGen:CA10579166	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn)	472	ATM	Conflicting interpretations of pathogenicity	587782506	RCV000131649\|RCV000205840\|RCV000236820\|RCV000779764\|RCV003422027;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|	11	108165679	108165679	11:g.108165679G>A	ClinGen:CA168532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4804_4805del (p.Val1602fs)	472	ATM	Pathogenic/Likely pathogenic	864622290	RCV000217555\|RCV000205765\|RCV001559574\|RCV002500645\|RCV003233496\|RCV003468939;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108165679	108165680	11:g.108165679_108165680del	ClinGen:CA349880	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4802G>C (p.Ser1601Thr)	472	ATM	Uncertain significance	587782506	RCV001294963;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165679	108165679	108165679	-
NM_000051.4(ATM):c.4803T>C (p.Ser1601=)	472	ATM	Likely benign	964364958	RCV000575072\|RCV000610284\|RCV000939333;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165680	108165680	NC_000011.9:g.108165680T>C	ClinGen:CA476674507	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4807T>C (p.Tyr1603His)	472	ATM	Uncertain significance	994121421	RCV000561611\|RCV000628068\|RCV001561531\|RCV003465185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108165684	108165684	11:g.108165684T>C	ClinGen:CA228380664	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4807T>G (p.Tyr1603Asp)	472	ATM	Uncertain significance	994121421	RCV002020303;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165684	108165684	108165684	-
NM_000051.4(ATM):c.4813G>A (p.Ala1605Thr)	472	ATM	Uncertain significance	1555101706	RCV000627895\|RCV002334039;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165690	108165690	NC_000011.9:g.108165690G>A	ClinGen:CA382536622	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4814C>T (p.Ala1605Val)	472	ATM	Uncertain significance	786203520	RCV000166861\|RCV000808496;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165691	108165691	11:g.108165691C>T	ClinGen:CA196897	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4815A>C (p.Ala1605=)	472	ATM	Likely benign	1591684513	RCV000941006\|RCV002336976;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165692	108165692	11:g.108165692A>C	-
NM_000051.4(ATM):c.4816C>G (p.Leu1606Val)	472	ATM	Uncertain significance	746103632	RCV000556637\|RCV002256329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165693	108165693	11:g.108165693C>G	ClinGen:CA6265559	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4816C>T (p.Leu1606Phe)	472	ATM	Uncertain significance	746103632	RCV000792406;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165693	108165693	11:g.108165693C>T	-
NM_000051.4(ATM):c.4818T>C (p.Leu1606=)	472	ATM	Likely benign	772074468	RCV000440719\|RCV000537242\|RCV001023106;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165695	108165695	11:g.108165695T>C	ClinGen:CA6265560	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4819C>A (p.Pro1607Thr)	472	ATM	Uncertain significance	1178015475	RCV000575283\|RCV000700994;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165696	108165696	11:g.108165696C>A	ClinGen:CA382536662	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4820C>G (p.Pro1607Arg)	472	ATM	Uncertain significance	864622462	RCV000205747;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165697	108165697	NC_000011.9:g.108165697C>G	ClinGen:CA349859	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4820C>T (p.Pro1607Leu)	472	ATM	Uncertain significance	864622462	RCV000811118;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165697	108165697	11:g.108165697C>T	-
NM_000051.4(ATM):c.4821A>G (p.Pro1607=)	472	ATM	Likely benign	786203559	RCV000166923\|RCV000476733\|RCV001711448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108165698	108165698	11:g.108165698A>G	ClinGen:CA197038	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4822T>C (p.Leu1608=)	472	ATM	Likely benign	775464644	RCV000583668\|RCV001503306;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165699	108165699	11:g.108165699T>C	ClinGen:CA6265561	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4824G>A (p.Leu1608=)	472	ATM	Likely benign	1239479673	RCV001479367\|RCV001523904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165701	108165701	108165701	-
NM_000051.4(ATM):c.4825A>G (p.Thr1609Ala)	472	ATM	Uncertain significance	761197886	RCV000226566\|RCV000573693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165702	108165702	NC_000011.9:g.108165702A>G	ClinGen:CA6265562	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4829G>C (p.Arg1610Thr)	472	ATM	Uncertain significance	2083038225	RCV001191536\|RCV001319774\|RCV003236875;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108165706	108165706	11:g.108165706G>C	-
NM_000051.4(ATM):c.4831C>T (p.Leu1611Phe)	472	ATM	Uncertain significance	1026156596	RCV001222075;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165708	108165708	11:g.108165708C>T	-
NM_000051.4(ATM):c.4832T>C (p.Leu1611Pro)	472	ATM	Uncertain significance	-1	RCV002303336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165709	108165709	108165709	-
NM_000051.4(ATM):c.4833T>A (p.Leu1611=)	472	ATM	Likely benign	769025179	RCV000421686\|RCV002062486\|RCV002339011;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165710	108165710	11:g.108165710T>A	ClinGen:CA16606086	CN169374 not specified;
NM_000051.4(ATM):c.4833T>C (p.Leu1611=)	472	ATM	Likely benign	769025179	RCV002160718;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165710	108165710	108165710	-
NM_000051.4(ATM):c.4836A>G (p.Glu1612=)	472	ATM	Likely benign	2135835525	RCV001436020\|RCV003355477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165713	108165713	108165713	-
NM_000051.4(ATM):c.4838G>C (p.Gly1613Ala)	472	ATM	Uncertain significance	2083038889	RCV001202030;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165715	108165715	11:g.108165715G>C	-
NM_000051.4(ATM):c.4838G>T (p.Gly1613Val)	472	ATM	Uncertain significance	2083038889	RCV001870805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165715	108165715	108165715	-
NM_000051.4(ATM):c.4840C>T (p.Leu1614=)	472	ATM	Likely benign	777239020	RCV000549728\|RCV000572715\|RCV000599873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108165717	108165717	11:g.108165717C>T	ClinGen:CA6265564	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4840del (p.Gly1613_Leu1614insTer)	472	ATM	Pathogenic	2083039160	RCV001058360;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165717	108165717	11:g.108165717_108165717del	-
NM_000051.4(ATM):c.4842_4843insCT (p.Lys1615fs)	472	ATM	Pathogenic	753011366	RCV000218872\|RCV001067564\|RCV003469074;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108165719	108165720	11:g.108165719_108165720insCT	ClinGen:CA6265565	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4842A>G (p.Leu1614=)	472	ATM	Likely benign	1057520429	RCV000441564\|RCV001490381\|RCV002338998;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165719	108165719	11:g.108165719A>G	ClinGen:CA16605796	CN169374 not specified;
NM_000051.4(ATM):c.4844del (p.Lys1615fs)	472	ATM	Pathogenic	1555101791	RCV000572158\|RCV000823667;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165719	108165719	NC_000011.9:g.108165721del	ClinGen:CA658656201	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4844A>C (p.Lys1615Thr)	472	ATM	Uncertain significance	867309383	RCV001366635;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165721	108165721	108165721	-
NM_000051.4(ATM):c.4845G>T (p.Lys1615Asn)	472	ATM	Uncertain significance	888498126	RCV000571042\|RCV000819638;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165722	108165722	11:g.108165722G>T	ClinGen:CA228380733	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4847A>T (p.Asp1616Val)	472	ATM	Uncertain significance	1591684782	RCV000809387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165724	108165724	11:g.108165724A>T	-
NM_000051.4(ATM):c.4848T>A (p.Asp1616Glu)	472	ATM	Uncertain significance	2083040302	RCV001338763;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165725	108165725	108165725	-
NM_000051.4(ATM):c.4848T>C (p.Asp1616=)	472	ATM	Likely benign	2083040302	RCV001418983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165725	108165725	108165725	-
NM_000051.4(ATM):c.4849C>G (p.Leu1617Val)	472	ATM	Uncertain significance	1006483748	RCV000581505\|RCV001041681;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165726	108165726	11:g.108165726C>G	ClinGen:CA228380737	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4850T>C (p.Leu1617Pro)	472	ATM	Uncertain significance	2083040595	RCV001318312;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165727	108165727	108165727	-
NM_000051.4(ATM):c.4852C>T (p.Arg1618Ter)	472	ATM	Pathogenic	762083530	RCV000166912\|RCV000483137\|RCV000525721\|RCV001814077\|RCV001808440\|RCV003162714;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0011442,MedGen:C4023354\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108165729	108165729	11:g.108165729C>T	ClinGen:CA197013	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4852C>G (p.Arg1618Gly)	472	ATM	Uncertain significance	762083530	RCV000700113;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165729	108165729	11:g.108165729C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4853G>A (p.Arg1618Gln)	472	ATM	Conflicting interpretations of pathogenicity	765759912	RCV000164315\|RCV000228294\|RCV000994709\|RCV003474856;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108165730	108165730	11:g.108165730G>A	ClinGen:CA190612	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4855A>G (p.Arg1619Gly)	472	ATM	Uncertain significance	1555101835	RCV000569739\|RCV001834819;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165732	108165732	11:g.108165732A>G	ClinGen:CA382536971	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4856G>A (p.Arg1619Lys)	472	ATM	Uncertain significance	730881393	RCV000159767\|RCV000213785\|RCV000539303\|RCV001194329;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108165733	108165733	NC_000011.9:g.108165733G>A	ClinGen:CA298362	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4857A>G (p.Arg1619=)	472	ATM	Likely benign	1555101850	RCV000563456\|RCV002528101;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165734	108165734	NC_000011.9:g.108165734A>G	ClinGen:CA476674542	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4858C>T (p.Gln1620Ter)	472	ATM	Pathogenic	-1	RCV003062452;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165735	108165735	NC_000011.9:g.108165735C>T	-
NM_000051.4(ATM):c.4860A>G (p.Gln1620=)	472	ATM	Likely benign	1057520446	RCV000437190\|RCV001023166\|RCV001393724;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165737	108165737	11:g.108165737A>G	ClinGen:CA16606087	CN169374 not specified;
NM_000051.4(ATM):c.4860A>T (p.Gln1620His)	472	ATM	Uncertain significance	-1	RCV002601335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165737	108165737	NC_000011.9:g.108165737A>T	-
NM_000051.4(ATM):c.4861C>G (p.Leu1621Val)	472	ATM	Uncertain significance	-1	RCV002811416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165738	108165738	NC_000011.9:g.108165738C>G	-
NM_000051.4(ATM):c.4862T>A (p.Leu1621Gln)	472	ATM	Uncertain significance	1555101864	RCV000628075;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165739	108165739	11:g.108165739T>A	ClinGen:CA382537040	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4864del (p.Glu1622fs)	472	ATM	Pathogenic	2083042256	RCV001036765;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165740	108165740	11:g.108165740_108165740del	-
NM_000051.4(ATM):c.4863G>C (p.Leu1621=)	472	ATM	Likely benign	2135836530	RCV002088919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165740	108165740	108165740	-
NM_000051.4(ATM):c.4864G>C (p.Glu1622Gln)	472	ATM	Uncertain significance	2083042425	RCV001910109\|RCV002334864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165741	108165741	108165741	-
NM_000051.4(ATM):c.4864G>T (p.Glu1622Ter)	472	ATM	Pathogenic	-1	RCV003238159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165741	108165741		-
NM_000051.4(ATM):c.4865A>G (p.Glu1622Gly)	472	ATM	Uncertain significance	1555101872	RCV000551768\|RCV000562663;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165742	108165742	11:g.108165742A>G	ClinGen:CA382537085	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4866A>G (p.Glu1622=)	472	ATM	Likely benign	2135836682	RCV002199724;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165743	108165743	108165743	-
NM_000051.4(ATM):c.4868T>C (p.Leu1623Pro)	472	ATM	Uncertain significance	786203017	RCV000166136\|RCV000200850\|RCV000485111\|RCV001290687;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108165745	108165745	11:g.108165745T>C	ClinGen:CA195088	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4869A>C (p.Leu1623=)	472	ATM	Likely benign	767084038	RCV000628232\|RCV000772227;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165746	108165746	11:g.108165746A>C	ClinGen:CA476674550	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4869A>G (p.Leu1623=)	472	ATM	Likely benign	767084038	RCV002114702;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165746	108165746	108165746	-
NM_000051.4(ATM):c.4870C>A (p.His1624Asn)	472	ATM	Uncertain significance	1591684971	RCV000814768;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165747	108165747	11:g.108165747C>A	-
NM_000051.4(ATM):c.4871A>G (p.His1624Arg)	472	ATM	Conflicting interpretations of pathogenicity	56354559	RCV000122854\|RCV000129349\|RCV000587947\|RCV002223131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108165748	108165748	NC_000011.9:g.108165748A>G	ClinGen:CA294028	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4873A>G (p.Lys1625Glu)	472	ATM	Uncertain significance	1060501693	RCV000469611\|RCV000485075\|RCV001023183\|RCV003470442;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108165750	108165750	NC_000011.9:g.108165750A>G	ClinGen:CA16613148	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4874A>G (p.Lys1625Arg)	472	ATM	Uncertain significance	1591685009	RCV000816021;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165751	108165751	11:g.108165751A>G	-
NM_000051.4(ATM):c.4876G>T (p.Asp1626Tyr)	472	ATM	Uncertain significance	-1	RCV003000157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165753	108165753	NC_000011.9:g.108165753G>T	-
NM_000051.4(ATM):c.4878T>C (p.Asp1626=)	472	ATM	Likely benign	755687834	RCV000167056\|RCV000755832\|RCV001080831;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165755	108165755	11:g.108165755T>C	ClinGen:CA197385	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4879C>A (p.Gln1627Lys)	472	ATM	Uncertain significance	886039592	RCV000540108\|RCV003159701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165756	108165756	11:g.108165756C>A	ClinGen:CA382537156	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4879del (p.Gln1627fs)	472	ATM	Pathogenic/Likely pathogenic	2135837254	RCV002502067\|RCV002258622;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165756	108165756	108165755	-
NM_000051.4(ATM):c.4880A>T (p.Gln1627Leu)	472	ATM	Uncertain significance	786203857	RCV000167347\|RCV000779772\|RCV001056090\|RCV001570951;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108165757	108165757	11:g.108165757A>T	ClinGen:CA198062	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4880A>G (p.Gln1627Arg)	472	ATM	Uncertain significance	786203857	RCV002026056;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165757	108165757	108165757	-
NM_000051.4(ATM):c.4881G>T (p.Gln1627His)	472	ATM	Uncertain significance	1374689246	RCV000699002\|RCV002255163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165758	108165758	11:g.108165758G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4882A>T (p.Met1628Leu)	472	ATM	Uncertain significance	1591685091	RCV000822324;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165759	108165759	11:g.108165759A>T	-
NM_000051.4(ATM):c.4882A>G (p.Met1628Val)	472	ATM	Uncertain significance	1591685091	RCV001931554;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165759	108165759	108165759	-
NM_000051.4(ATM):c.4884G>T (p.Met1628Ile)	472	ATM	Uncertain significance	2083044750	RCV001066829;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165761	108165761	11:g.108165761G>T	-
NM_000051.4(ATM):c.4885G>C (p.Val1629Leu)	472	ATM	Uncertain significance	876660748	RCV000218649\|RCV001833227;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165762	108165762	11:g.108165762G>C	ClinGen:CA10579167	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4885G>A (p.Val1629Met)	472	ATM	Conflicting interpretations of pathogenicity	876660748	RCV000570867\|RCV001326586;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165762	108165762	11:g.108165762G>A	ClinGen:CA382537189	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4889A>G (p.Asp1630Gly)	472	ATM	Conflicting interpretations of pathogenicity	1565466579	RCV000696175\|RCV003362905;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165766	108165766	11:g.108165766A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4890C>T (p.Asp1630=)	472	ATM	Likely benign	1591685165	RCV000934122\|RCV001189849;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165767	108165767	11:g.108165767C>T	-
NM_000051.4(ATM):c.4891A>T (p.Ile1631Phe)	472	ATM	Uncertain significance	2135837721	RCV001990343;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165768	108165768	108165768	-
NM_000051.4(ATM):c.4892T>G (p.Ile1631Ser)	472	ATM	Uncertain significance	1060501674	RCV000461145\|RCV000563178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165769	108165769	NC_000011.9:g.108165769T>G	ClinGen:CA16613064	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4893T>A (p.Ile1631=)	472	ATM	Likely benign	1591685188	RCV001441364;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165770	108165770	11:g.108165770T>A	-
NM_000051.4(ATM):c.4894A>G (p.Met1632Val)	472	ATM	Uncertain significance	1060501709	RCV000464432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165771	108165771	NC_000011.9:g.108165771A>G	ClinGen:CA16613360	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4896G>A (p.Met1632Ile)	472	ATM	Uncertain significance	933030670	RCV000552602\|RCV000565460\|RCV002244996;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108165773	108165773	NC_000011.9:g.108165773G>A	ClinGen:CA228380838	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4897A>G (p.Arg1633Gly)	472	ATM	Uncertain significance	1591685231	RCV001023213\|RCV001276273;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165774	108165774	11:g.108165774A>G	-
NM_000051.4(ATM):c.4900G>A (p.Ala1634Thr)	472	ATM	Uncertain significance	1565466632	RCV000773062\|RCV001231014;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165777	108165777	NC_000011.9:g.108165777G>A	-
NM_000051.4(ATM):c.4903_4905del (p.Ser1635del)	472	ATM	Uncertain significance	2135838090	RCV002008852;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165778	108165780	108165777	-
NM_000051.4(ATM):c.4902T>C (p.Ala1634=)	472	ATM	Likely benign	2135838120	RCV002082704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165779	108165779	108165779	-
NM_000051.4(ATM):c.4904C>A (p.Ser1635Tyr)	472	ATM	Uncertain significance	2083047150	RCV001224221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165781	108165781	11:g.108165781C>A	-
NM_000051.4(ATM):c.4906C>T (p.Gln1636Ter)	472	ATM	Pathogenic/Likely pathogenic	1060501627	RCV000456566\|RCV001187841\|RCV003148742;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108165783	108165783	NC_000011.9:g.108165783C>T	ClinGen:CA16613152	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4909G>T (p.Asp1637Tyr)	472	ATM	Uncertain significance	753870656	RCV000563264\|RCV000686429;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165786	108165786	NC_000011.9:g.108165786G>T	ClinGen:CA382537327	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4909G>C (p.Asp1637His)	472	ATM	Uncertain significance	-1	RCV003112226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165786	108165786	NC_000011.9:g.108165786G>C	-
NM_000051.4(ATM):c.4909+1G>A	472	ATM	Pathogenic	756987454	RCV000566360\|RCV000628067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165787	108165787	NC_000011.9:g.108165787G>A	ClinGen:CA6265571	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4909+1G>T	472	ATM	Pathogenic/Likely pathogenic	756987454	RCV000704443\|RCV003362917;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165787	108165787	11:g.108165787G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4909+3G>A	472	ATM	Conflicting interpretations of pathogenicity	778685122	RCV000562529\|RCV000628184\|RCV001194330\|RCV001584367;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108165789	108165789	11:g.108165789G>A	ClinGen:CA6265572	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4909+4C>T	472	ATM	Conflicting interpretations of pathogenicity	587782125	RCV000130663\|RCV000460771\|RCV003467151;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108165790	108165790	11:g.108165790C>T	ClinGen:CA166849	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4909+5T>C	472	ATM	Uncertain significance	2083048367	RCV001059283\|RCV003462580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108165791	108165791	11:g.108165791T>C	-
NM_000051.4(ATM):c.4909+6A>G	472	ATM	Uncertain significance	2083048548	RCV001219760;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165792	108165792	11:g.108165792A>G	-
NM_000051.4(ATM):c.4909+7A>G	472	ATM	Likely benign	2135838624	RCV002209931;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165793	108165793	108165793	-
NM_000051.4(ATM):c.4909+9T>G	472	ATM	Likely benign	1555101970	RCV000541042;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165795	108165795	NC_000011.9:g.108165795T>G	ClinGen:CA658656215	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4909+10T>G	472	ATM	Likely benign	2135838699	RCV001501547;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165796	108165796	108165796	-
NM_000051.4(ATM):c.4909+14A>G	472	ATM	Likely benign	-1	RCV002616803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165800	108165800	NC_000011.9:g.108165800A>G	-
NM_000051.4(ATM):c.4909+14A>T	472	ATM	Likely benign	-1	RCV002833973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165800	108165800	NC_000011.9:g.108165800A>T	-
NM_000051.4(ATM):c.4909+17A>G	472	ATM	Conflicting interpretations of pathogenicity	550300834	RCV002081305\|RCV003303756;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108165803	108165803	108165803	-
NM_000051.4(ATM):c.4909+18C>T	472	ATM	Likely benign	-1	RCV002876416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165804	108165804	NC_000011.9:g.108165804C>T	-
NM_000051.4(ATM):c.4909+19A>T	472	ATM	Likely benign	747032236	RCV002095829;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165805	108165805	108165805	-
NM_000051.4(ATM):c.4909+19A>G	472	ATM	Likely benign	-1	RCV002770099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165805	108165805	NC_000011.9:g.108165805A>G	-
NM_000051.4(ATM):c.4909+20T>C	472	ATM	Likely benign	1401279002	RCV000583944\|RCV002529189;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108165806	108165806	NC_000011.9:g.108165806T>C	ClinGen:CA601721493	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4910-362_4960delinsCCACAGTGTTGGATAAC	472	ATM	Pathogenic	2135857103	RCV001383862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108167652	108168064	108167652	-
NM_000051.4(ATM):c.4910-248T>C	472	ATM	Likely benign	550591525	RCV000988689;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108167766	108167766	11:g.108167766T>C	-
NM_000051.4(ATM):c.4910-20T>G	472	ATM	Likely benign	773731240	RCV000583919\|RCV002060604;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108167994	108167994	11:g.108167994T>G	ClinGen:CA6265582	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4910-1_4910insGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCGGATCACGAGG	472	ATM	Uncertain significance	-1	RCV001997739;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108167997	108167998	108167997	-
NM_000051.4(ATM):c.4910-11dup	472	ATM	Benign	2135860579	RCV002115874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108167997	108167998	108167997	-
NM_000051.4(ATM):c.4910-17T>G	472	ATM	Likely benign	1238547320	RCV002090857;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108167997	108167997	108167997	-
NM_000051.4(ATM):c.4910-16A>T	472	ATM	Likely benign	866500582	RCV000428745\|RCV000580519\|RCV001692095\|RCV002065032;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108167998	108167998	11:g.108167998A>T	ClinGen:CA16605798	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4910-14A>C	472	ATM	Likely benign	-1	RCV003020832;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168000	108168000	NC_000011.9:g.108168000A>C	-
NM_000051.4(ATM):c.4910-11A>T	472	ATM	Uncertain significance	-1	RCV003089858;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168003	108168003	NC_000011.9:g.108168003A>T	-
NC_000011.10:g.(?_108297277)_(108297392_?)dup	472	ATM	Uncertain significance	-1	RCV001031284;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168004	108168119	-1	-
NM_000051.4(ATM):c.4910-10T>C	472	ATM	Uncertain significance	2083173059	RCV001035675;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168004	108168004	11:g.108168004T>C	-
NM_000051.4(ATM):c.4910-10T>G	472	ATM	Uncertain significance	2083173059	RCV001911077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168004	108168004	108168004	-
NM_000051.4(ATM):c.4910-8A>G	472	ATM	Likely benign	1555103144	RCV000532931;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168006	108168006	NC_000011.9:g.108168006A>G	ClinGen:CA658656216	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4910-7T>A	472	ATM	Likely benign	3092872	RCV000443608\|RCV001431471;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168007	108168007	11:g.108168007T>A	ClinGen:CA16605803	CN169374 not specified;
NM_000051.4(ATM):c.4910-7T>C	472	ATM	Likely benign	3092872	RCV000777912\|RCV001429336;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168007	108168007	NC_000011.9:g.108168007T>C	-
NM_000051.4(ATM):c.4910-6T>G	472	ATM	Uncertain significance	878853513	RCV000231989;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168008	108168008	NC_000011.9:g.108168008T>G	ClinGen:CA10582822	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108168008)_(108206694_?)del	472	ATM	Pathogenic	-1	RCV001389394;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168008	108206694	-1	-
NM_000051.4(ATM):c.4910-5T>C	472	ATM	Conflicting interpretations of pathogenicity	1309478967	RCV000552366\|RCV000567462\|RCV003464122;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168009	108168009	NC_000011.9:g.108168009T>C	ClinGen:CA658656218	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4910-4C>T	472	ATM	Conflicting interpretations of pathogenicity	786202493	RCV000165333\|RCV000444016\|RCV000628273;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168010	108168010	11:g.108168010C>T	ClinGen:CA193116	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4910-2A>T	472	ATM	Conflicting interpretations of pathogenicity	1555103156	RCV000581766\|RCV001377222;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168012	108168012	11:g.108168012A>T	ClinGen:CA382537928	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4910-2A>G	472	ATM	Likely pathogenic	1555103156	RCV000818652;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168012	108168012	11:g.108168012A>G	-
NM_000051.4(ATM):c.4910-2A>C	472	ATM	Likely pathogenic	1555103156	RCV001377035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168012	108168012	108168012	-
NM_000051.4(ATM):c.4910-1G>T	472	ATM	Likely pathogenic	1060501706	RCV000477465\|RCV003155942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168013	108168013	NC_000011.9:g.108168013G>T	ClinGen:CA16613425	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4910-1G>C	472	ATM	Likely pathogenic	1060501706	RCV000988690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168013	108168013	11:g.108168013G>C	-
NM_000051.4(ATM):c.4910A>G (p.Asp1637Gly)	472	ATM	Conflicting interpretations of pathogenicity	763457172	RCV000456711\|RCV000571141\|RCV003230499\|RCV002473013;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108168014	108168014	NC_000011.9:g.108168014A>G	ClinGen:CA6265583	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108297287)_(108335961_?)del	472	ATM	Pathogenic	-1	RCV000460502;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168014	108206688		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4915C>A (p.Pro1639Thr)	472	ATM	Uncertain significance	1565469722	RCV001051651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168019	108168019	11:g.108168019C>A	-
NM_000051.4(ATM):c.4915C>T (p.Pro1639Ser)	472	ATM	Uncertain significance	1565469722	RCV001312284;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168019	108168019	108168019	-
NM_000051.4(ATM):c.4916C>T (p.Pro1639Leu)	472	ATM	Uncertain significance	752459491	RCV000572284\|RCV000627961\|RCV001357619;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108168020	108168020	NC_000011.9:g.108168020C>T	ClinGen:CA6265585	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4916C>G (p.Pro1639Arg)	472	ATM	Uncertain significance	752459491	RCV000628182\|RCV002343183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168020	108168020	11:g.108168020C>G	ClinGen:CA382538012	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4917G>A (p.Pro1639=)	472	ATM	Likely benign	140425622	RCV000221370\|RCV000461226\|RCV001722186\|RCV001824694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108168021	108168021	11:g.108168021G>A	ClinGen:CA6265586	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4917G>T (p.Pro1639=)	472	ATM	Likely benign	140425622	RCV000583267\|RCV000976365;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168021	108168021	NC_000011.9:g.108168021G>T	ClinGen:CA6265587	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4918C>T (p.Gln1640Ter)	472	ATM	Pathogenic	-1	RCV002842687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168022	108168022	NC_000011.9:g.108168022C>T	-
NM_000051.4(ATM):c.4919A>C (p.Gln1640Pro)	472	ATM	Uncertain significance	1555103190	RCV000565301\|RCV001240006;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168023	108168023	NC_000011.9:g.108168023A>C	ClinGen:CA382538037	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4919A>G (p.Gln1640Arg)	472	ATM	Uncertain significance	1555103190	RCV001238359;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168023	108168023	11:g.108168023A>G	-
NM_000051.4(ATM):c.4921G>C (p.Asp1641His)	472	ATM	Uncertain significance	587782896	RCV000132535\|RCV000225809\|RCV000478375\|RCV003474793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168025	108168025	11:g.108168025G>C	ClinGen:CA170032	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4924G>A (p.Gly1642Arg)	472	ATM	Uncertain significance	2135861446	RCV001980661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168028	108168028	108168028	-
NM_000051.4(ATM):c.4925G>C (p.Gly1642Ala)	472	ATM	Uncertain significance	-1	RCV002304822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168029	108168029	108168029	-
NM_000051.4(ATM):c.4927A>T (p.Ile1643Phe)	472	ATM	Uncertain significance	-1	RCV003112091\|RCV003358133;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168031	108168031	NC_000011.9:g.108168031A>T	-
NM_000051.4(ATM):c.4929del (p.Met1644fs)	472	ATM	Pathogenic	2083175858	RCV001211704\|RCV003398942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108168032	108168032	11:g.108168032_108168032del	-
NM_000051.4(ATM):c.4929T>A (p.Ile1643=)	472	ATM	Likely benign	2135861750	RCV001396416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168033	108168033	108168033	-
NM_000051.4(ATM):c.4930A>G (p.Met1644Val)	472	ATM	Uncertain significance	1591692514	RCV000795783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168034	108168034	11:g.108168034A>G	-
NM_000051.4(ATM):c.4931T>C (p.Met1644Thr)	472	ATM	Uncertain significance	55843558	RCV000563094\|RCV001030595\|RCV001174554\|RCV001834821;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168035	108168035	11:g.108168035T>C	ClinGen:CA228384001	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4932G>C (p.Met1644Ile)	472	ATM	Uncertain significance	730881371	RCV000159730\|RCV000457653\|RCV000773112\|RCV001798545;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562	11	108168036	108168036	NC_000011.9:g.108168036G>C	ClinGen:CA298263	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4932G>A (p.Met1644Ile)	472	ATM	Uncertain significance	730881371	RCV001023288\|RCV002550884;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168036	108168036	11:g.108168036G>A	-
NM_000051.4(ATM):c.4933del (p.Met1644_Val1645insTer)	472	ATM	Pathogenic	2135861869	RCV002000180;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168036	108168036	108168035	-
NM_000051.4(ATM):c.4933G>T (p.Val1645Leu)	472	ATM	Uncertain significance	757381170	RCV000470120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168037	108168037	NC_000011.9:g.108168037G>T	ClinGen:CA16613362	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4933G>C (p.Val1645Leu)	472	ATM	Uncertain significance	757381170	RCV002049553\|RCV003164049;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168037	108168037	108168037	-
NM_000051.4(ATM):c.4935G>A (p.Val1645=)	472	ATM	Likely benign	-1	RCV003013922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168039	108168039		-
NM_000051.4(ATM):c.4938del (p.Lys1646fs)	472	ATM	Pathogenic/Likely pathogenic	587781754	RCV000129960\|RCV000627968\|RCV003467126;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168040	108168040	11:g.108168040_108168040del	ClinGen:CA165425	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4936A>C (p.Lys1646Gln)	472	ATM	Uncertain significance	2135861949	RCV001881246;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168040	108168040	108168040	-
NM_000051.4(ATM):c.4939C>T (p.Leu1647=)	472	ATM	Likely benign	1157451668	RCV002218845\|RCV002337240;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168043	108168043	108168043	-
NM_000051.4(ATM):c.4941A>G (p.Leu1647=)	472	ATM	Likely benign	786201667	RCV000164067\|RCV002053961;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168045	108168045	11:g.108168045A>G	ClinGen:CA189951	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4944_4946del (p.Val1649del)	472	ATM	Uncertain significance	2135862163	RCV001374020;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168046	108168048	108168045	-
NM_000051.4(ATM):c.4943T>C (p.Val1648Ala)	472	ATM	Uncertain significance	997081415	RCV000696369\|RCV001779061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108168047	108168047	NC_000011.9:g.108168047T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4946T>A (p.Val1649Asp)	472	ATM	Uncertain significance	2135862254	RCV002001244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168050	108168050	108168050	-
NM_000051.4(ATM):c.4947C>T (p.Val1649=)	472	ATM	Likely benign	1436324961	RCV000562868\|RCV001433564;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168051	108168051	11:g.108168051C>T	ClinGen:CA476674603	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4948A>C (p.Asn1650His)	472	ATM	Uncertain significance	-1	RCV002303873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168052	108168052	108168052	-
NM_000051.4(ATM):c.4949A>G (p.Asn1650Ser)	472	ATM	Benign/Likely benign	55870064	RCV000115200\|RCV000120142\|RCV000589659\|RCV001082738\|RCV003315636;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168053	108168053	NC_000011.9:g.108168053A>G	ClinGen:CA157128,UniProtKB:Q13315#VAR_041566	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4949A>C (p.Asn1650Thr)	472	ATM	Uncertain significance	55870064	RCV000213695\|RCV000707453;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168053	108168053	11:g.108168053A>C	ClinGen:CA10579168	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4952T>C (p.Leu1651Ser)	472	ATM	Uncertain significance	1555103237	RCV000570708\|RCV000816381;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168056	108168056	11:g.108168056T>C	ClinGen:CA382538252	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4952T>G (p.Leu1651Trp)	472	ATM	Uncertain significance	1555103237	RCV000819946\|RCV002336703;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168056	108168056	11:g.108168056T>G	-
NM_000051.4(ATM):c.4953G>A (p.Leu1651=)	472	ATM	Likely benign	786201297	RCV000163301\|RCV001465744;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168057	108168057	11:g.108168057G>A	ClinGen:CA187947	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4953G>T (p.Leu1651Phe)	472	ATM	Uncertain significance	786201297	RCV000586417\|RCV001023315\|RCV001853969;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168057	108168057	11:g.108168057G>T	ClinGen:CA382538263	CN517202 not provided;
NM_000051.4(ATM):c.4956G>A (p.Leu1652=)	472	ATM	Likely benign	2135862508	RCV002115301\|RCV002337283;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168060	108168060	108168060	-
NM_000051.4(ATM):c.4957C>T (p.Gln1653Ter)	472	ATM	Pathogenic	1565469955	RCV000690383;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168061	108168061	11:g.108168061C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4957C>G (p.Gln1653Glu)	472	ATM	Uncertain significance	1565469955	RCV001210798;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168061	108168061	11:g.108168061C>G	-
NM_000051.4(ATM):c.4957_4958del (p.Gln1653fs)	472	ATM	Pathogenic	2135862582	RCV001994729;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168061	108168062	108168060	-
NM_000051.4(ATM):c.4958_4959insTAAC (p.Gln1653fs)	472	ATM	Pathogenic	2083178407	RCV001068324;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168062	108168063	11:g.108168062_108168063insTAAC	-
NM_000051.4(ATM):c.4961T>C (p.Leu1654Ser)	472	ATM	Uncertain significance	587781679	RCV000129839\|RCV001236553;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168065	108168065	11:g.108168065T>C	ClinGen:CA165184	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4962A>G (p.Leu1654=)	472	ATM	Likely benign	2135862796	RCV001457516\|RCV002350924;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168066	108168066	108168066	-
NM_000051.4(ATM):c.4963T>C (p.Ser1655Pro)	472	ATM	Uncertain significance	1376280581	RCV000702181\|RCV000772701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168067	108168067	11:g.108168067T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4963T>G (p.Ser1655Ala)	472	ATM	Uncertain significance	1376280581	RCV001897297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168067	108168067	108168067	-
NM_000051.4(ATM):c.4964C>A (p.Ser1655Tyr)	472	ATM	Conflicting interpretations of pathogenicity	786201215	RCV000163104\|RCV000486511\|RCV000804749\|RCV002228686\|RCV002485008;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108168068	108168068	11:g.108168068C>A	ClinGen:CA187451	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4964C>T (p.Ser1655Phe)	472	ATM	Uncertain significance	786201215	RCV002036172;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168068	108168068	108168068	-
NM_000051.4(ATM):c.4965C>T (p.Ser1655=)	472	ATM	Likely benign	1555103252	RCV000534790\|RCV002341237;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168069	108168069	11:g.108168069C>T	ClinGen:CA476674613	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4966A>G (p.Lys1656Glu)	472	ATM	Uncertain significance	1565470010	RCV000703272;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168070	108168070	11:g.108168070A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4967A>G (p.Lys1656Arg)	472	ATM	Uncertain significance	2083179153	RCV001183152\|RCV001876089;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168071	108168071	11:g.108168071A>G	-
NM_000051.4(ATM):c.4969A>G (p.Met1657Val)	472	ATM	Uncertain significance	1060501656	RCV000471007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168073	108168073	NC_000011.9:g.108168073A>G	ClinGen:CA16613430	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4969A>T (p.Met1657Leu)	472	ATM	Uncertain significance	1060501656	RCV001325622;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168073	108168073	108168073	-
NM_000051.4(ATM):c.4969A>C (p.Met1657Leu)	472	ATM	Uncertain significance	1060501656	RCV002016639\|RCV002256888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168073	108168073	108168073	-
NM_000051.4(ATM):c.4972G>T (p.Ala1658Ser)	472	ATM	Uncertain significance	372679141	RCV001041793\|RCV003413833;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108168076	108168076	11:g.108168076G>T	-
NM_000051.4(ATM):c.4972G>A (p.Ala1658Thr)	472	ATM	Uncertain significance	372679141	RCV001922889;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168076	108168076	108168076	-
NM_000051.4(ATM):c.4975A>G (p.Ile1659Val)	472	ATM	Conflicting interpretations of pathogenicity	778632065	RCV000568872\|RCV000812463\|RCV001538998\|RCV001764634;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168079	108168079	NC_000011.9:g.108168079A>G	ClinGen:CA6265589	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4976T>C (p.Ile1659Thr)	472	ATM	Uncertain significance	1555103271	RCV000580243\|RCV001853854;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168080	108168080	NC_000011.9:g.108168080T>C	ClinGen:CA382538439	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4977A>T (p.Ile1659=)	472	ATM	Conflicting interpretations of pathogenicity	199888434	RCV000370171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168081	108168081	NC_000011.9:g.108168081A>T	ClinGen:CA10633318	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4979A>T (p.Asn1660Ile)	472	ATM	Uncertain significance	2083180093	RCV001053036;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168083	108168083	11:g.108168083A>T	-
NM_000051.4(ATM):c.4980C>T (p.Asn1660=)	472	ATM	Benign/Likely benign	144338238	RCV000123749\|RCV000212026\|RCV000588006\|RCV001084181\|RCV001358457\|RCV001798394\|RCV002225391;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C06	11	108168084	108168084	NC_000011.9:g.108168084C>T	ClinGen:CA289572	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4980C>A (p.Asn1660Lys)	472	ATM	Uncertain significance	144338238	RCV000560801\|RCV002341238\|RCV003470671;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168084	108168084	11:g.108168084C>A	ClinGen:CA6265590	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4981C>A (p.His1661Asn)	472	ATM	Uncertain significance	1591692950	RCV000810436\|RCV001023363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168085	108168085	11:g.108168085C>A	-
NM_000051.4(ATM):c.4983C>T (p.His1661=)	472	ATM	Likely benign	2083180642	RCV001179986\|RCV002558931;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168087	108168087	11:g.108168087C>T	-
NM_000051.4(ATM):c.4985C>T (p.Thr1662Ile)	472	ATM	Uncertain significance	1591692969	RCV000823593\|RCV002336722\|RCV003461285;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168089	108168089	11:g.108168089C>T	-
NM_000051.4(ATM):c.4985C>A (p.Thr1662Asn)	472	ATM	Uncertain significance	1591692969	RCV001066345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168089	108168089	11:g.108168089C>A	-
NM_000051.4(ATM):c.4986T>A (p.Thr1662=)	472	ATM	Conflicting interpretations of pathogenicity	2083180883	RCV001054453\|RCV002339274;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168090	108168090	11:g.108168090T>A	-
NM_000051.4(ATM):c.4988del (p.Gly1663fs)	472	ATM	Pathogenic	1565470139	RCV000695155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168091	108168091	11:g.108168091_108168091del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.4987G>A (p.Gly1663Ser)	472	ATM	Uncertain significance	1346404008	RCV001888847\|RCV002343967\|RCV003470995;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168091	108168091	108168091	-
NM_000051.4(ATM):c.4987G>T (p.Gly1663Cys)	472	ATM	Uncertain significance	-1	RCV002301627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168091	108168091	108168091	-
NM_000051.4(ATM):c.4989T>G (p.Gly1663=)	472	ATM	Likely benign	1591693006	RCV001023370\|RCV002552369;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168093	108168093	11:g.108168093T>G	-
NM_000051.4(ATM):c.4990G>A (p.Glu1664Lys)	472	ATM	Uncertain significance	1555103301	RCV000574748\|RCV001205560;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168094	108168094	NC_000011.9:g.108168094G>A	ClinGen:CA382538519	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.4990G>T (p.Glu1664Ter)	472	ATM	Pathogenic/Likely pathogenic	1555103301	RCV001023376\|RCV001208228\|RCV002269328\|RCV002265926;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0023122,MedGen:C2931456, Orphanet:1331	11	108168094	108168094	11:g.108168094G>T	-
NM_000051.4(ATM):c.4990G>C (p.Glu1664Gln)	472	ATM	Uncertain significance	1555103301	RCV001232082;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168094	108168094	11:g.108168094G>C	-
NM_000051.4(ATM):c.4991A>G (p.Glu1664Gly)	472	ATM	Uncertain significance	2083181675	RCV001060939;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168095	108168095	11:g.108168095A>G	-
NM_000051.4(ATM):c.4997A>C (p.Glu1666Ala)	472	ATM	Uncertain significance	1457261046	RCV001347611\|RCV002341724\|RCV003238352\|RCV003469579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168101	108168101	108168101	-
NM_000051.4(ATM):c.4999G>A (p.Val1667Ile)	472	ATM	Uncertain significance	780137734	RCV001257212\|RCV002339697;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168103	108168103	11:g.108168103G>A	-
NM_000051.4(ATM):c.4999G>C (p.Val1667Leu)	472	ATM	Uncertain significance	780137734	RCV002037170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168103	108168103	108168103	-
NM_000051.4(ATM):c.5000T>C (p.Val1667Ala)	472	ATM	Uncertain significance	-1	RCV003046644;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168104	108168104	NC_000011.9:g.108168104T>C	-
NM_000051.4(ATM):c.5002C>T (p.Leu1668=)	472	ATM	Conflicting interpretations of pathogenicity	747317946	RCV000206796\|RCV000565986\|RCV001355666;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108168106	108168106	NC_000011.9:g.108168106C>T	ClinGen:CA350792	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5002C>A (p.Leu1668Ile)	472	ATM	Uncertain significance	747317946	RCV000703386;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168106	108168106	11:g.108168106C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5004A>G (p.Leu1668=)	472	ATM	Conflicting interpretations of pathogenicity	768565424	RCV000701664\|RCV001023404;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168108	108168108	11:g.108168108A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5005G>C (p.Glu1669Gln)	472	ATM	Uncertain significance	-1	RCV002833390;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168109	108168109	NC_000011.9:g.108168109G>C	-
NM_000051.4(ATM):c.5005+1G>T	472	ATM	Conflicting interpretations of pathogenicity	1057517427	RCV000412271\|RCV001023407\|RCV003463809;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168110	108168110	NC_000011.9:g.108168110G>T	ClinGen:CA16041413	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5005+1G>A	472	ATM	Likely pathogenic	1057517427	RCV001065044\|RCV003467827;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108168110	108168110	11:g.108168110G>A	-
NM_000051.4(ATM):c.5005+7_5005+8del	472	ATM	Conflicting interpretations of pathogenicity	587780626	RCV000122857\|RCV000159619\|RCV000501211\|RCV001354127\|RCV001531758\|RCV001798395;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562	11	108168116	108168117	NC_000011.9:g.108168116_108168117del	ClinGen:CA298005	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5005+7T>C	472	ATM	Conflicting interpretations of pathogenicity	527286038	RCV000933594\|RCV001179337\|RCV003330999;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108168116	108168116	11:g.108168116T>C	-
NM_000051.4(ATM):c.5005+8A>G	472	ATM	Conflicting interpretations of pathogenicity	1204604787	RCV000549358\|RCV000582015\|RCV000614079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108168117	108168117	NC_000011.9:g.108168117A>G	ClinGen:CA645569719	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5005+9C>T	472	ATM	Benign/Likely benign	730881291	RCV000159620\|RCV000232635\|RCV000579691;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108168118	108168118	NC_000011.9:g.108168118C>T	ClinGen:CA298006	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5005+10A>G	472	ATM	Likely benign	2083183551	RCV001404798;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168119	108168119	108168119	-
NM_000051.4(ATM):c.5005+12T>A	472	ATM	Likely benign	2135864456	RCV002216975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168121	108168121	108168121	-
NM_000051.4(ATM):c.5005+13C>T	472	ATM	Likely benign	1192513529	RCV000581256\|RCV002060608;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168122	108168122	11:g.108168122C>T	ClinGen:CA601721877	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5005+14dup	472	ATM	Likely benign	-1	RCV002820819;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168122	108168123	NC_000011.9:g.108168123dup	-
NM_000051.4(ATM):c.5005+14A>T	472	ATM	Likely benign	374337879	RCV000438059\|RCV000579643\|RCV000668026;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168123	108168123	11:g.108168123A>T	ClinGen:CA6265594	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5005+15T>A	472	ATM	Conflicting interpretations of pathogenicity	377355762	RCV000420866\|RCV000580446\|RCV001103814;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168124	108168124	11:g.108168124T>A	ClinGen:CA6265595	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5005+15T>C	472	ATM	Likely benign	377355762	RCV000441997\|RCV000582711\|RCV002060075;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168124	108168124	11:g.108168124T>C	ClinGen:CA6265597	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5005+17C>G	472	ATM	Likely benign	200688912	RCV000428084\|RCV000583729\|RCV002061335;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168126	108168126	11:g.108168126C>G	ClinGen:CA6265599	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5005+17C>T	472	ATM	Benign/Likely benign	200688912	RCV000581158\|RCV001712592\|RCV002060609;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168126	108168126	11:g.108168126C>T	ClinGen:CA6265598	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5005+17C>A	472	ATM	Likely benign	200688912	RCV001189680\|RCV002069080;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168126	108168126	11:g.108168126C>A	-
NM_000051.4(ATM):c.5005+18G>A	472	ATM	Benign	76290788	RCV000582690\|RCV000679126\|RCV001512538\|RCV001707747\|RCV002225677\|RCV003316757;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C03461	11	108168127	108168127	11:g.108168127G>A	ClinGen:CA6265600	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5005+19C>G	472	ATM	Conflicting interpretations of pathogenicity	1064794787	RCV000481696\|RCV000584136\|RCV002056787;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168128	108168128	11:g.108168128C>G	ClinGen:CA16619191	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5005+19C>T	472	ATM	Likely benign	-1	RCV002583929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168128	108168128	NC_000011.9:g.108168128C>T	-
NM_000051.4(ATM):c.5005+20T>G	472	ATM	Likely benign	-1	RCV002700236;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108168129	108168129	NC_000011.9:g.108168129T>G	-
NM_000051.4(ATM):c.5006-18T>A	472	ATM	Likely benign	768321973	RCV000419513\|RCV000580281\|RCV001414805;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170423	108170423	11:g.108170423T>A	ClinGen:CA6265621	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5006-14A>C	472	ATM	Likely benign	2083314877	RCV001189958\|RCV001354118\|RCV002069097;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170427	108170427	11:g.108170427A>C	-
NM_000051.4(ATM):c.5006-12T>G	472	ATM	Conflicting interpretations of pathogenicity	2083315314	RCV002082765\|RCV002258361\|RCV003317574\|RCV003471291;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170429	108170429	108170429	-
NC_000011.10:g.(?_108299704)_(108304862_?)del	472	ATM	Likely pathogenic	-1	RCV001032298;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170431	108175589	-1	-
NM_000051.4(ATM):c.5006-10C>T	472	ATM	Likely benign	2083315555	RCV001175808\|RCV001482493;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170431	108170431	11:g.108170431C>T	-
NC_000011.9:g.(?_108170431)_(108206698_?)del	472	ATM	Pathogenic	-1	RCV001389395;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170431	108206698	-1	-
NC_000011.9:g.(?_108170431)_(108170622_?)del	472	ATM	Pathogenic	-1	RCV001993346;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170431	108170622	-1	-
NM_000051.4(ATM):c.5006-8A>G	472	ATM	Conflicting interpretations of pathogenicity	1057520447	RCV000426289\|RCV000460491;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170433	108170433	11:g.108170433A>G	ClinGen:CA16605807	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5006-6A>G	472	ATM	Likely benign	1392301961	RCV002076210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170435	108170435	108170435	-
NM_000051.4(ATM):c.5006-5T>A	472	ATM	Uncertain significance	1555104475	RCV000572678\|RCV001052589;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170436	108170436	NC_000011.9:g.108170436T>A	ClinGen:CA658656229	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5006-5T>G	472	ATM	Uncertain significance	-1	RCV002856170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170436	108170436	NC_000011.9:g.108170436T>G	-
NM_000051.4(ATM):c.5006-4G>A	472	ATM	Conflicting interpretations of pathogenicity	1591701752	RCV000799869\|RCV003166185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170437	108170437	11:g.108170437G>A	-
NM_000051.4(ATM):c.5006-4G>T	472	ATM	Likely benign	-1	RCV003107233;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170437	108170437	NC_000011.9:g.108170437G>T	-
NM_000051.4(ATM):c.5006-3T>C	472	ATM	Conflicting interpretations of pathogenicity	761297488	RCV001317023\|RCV002341645;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170438	108170438	108170438	-
NM_000051.4(ATM):c.5006-2A>G	472	ATM	Conflicting interpretations of pathogenicity	2135887733	RCV001379093\|RCV002341821;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170439	108170439	108170439	-
NM_000051.4(ATM):c.5006-1G>A	472	ATM	Likely pathogenic	1591701799	RCV000799506;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170440	108170440	11:g.108170440G>A	-
NM_000051.4(ATM):c.5007G>C (p.Glu1669Asp)	472	ATM	Uncertain significance	2135887789	RCV001372173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170442	108170442	108170442	-
NM_000051.4(ATM):c.5009C>T (p.Ala1670Val)	472	ATM	Conflicting interpretations of pathogenicity	375131360	RCV000115202\|RCV000206394\|RCV000561604\|RCV001171473\|RCV002490773\|RCV003315637;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108170444	108170444	NC_000011.9:g.108170444C>T	ClinGen:CA286867	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5010T>G (p.Ala1670=)	472	ATM	Likely benign	1555104482	RCV000537845\|RCV001023417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170445	108170445	11:g.108170445T>G	ClinGen:CA476674649	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5010T>C (p.Ala1670=)	472	ATM	Likely benign	1555104482	RCV002141460;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170445	108170445	108170445	-
NM_000051.4(ATM):c.5011G>T (p.Val1671Phe)	472	ATM	Conflicting interpretations of pathogenicity	1057523385	RCV000434309\|RCV000817772\|RCV002339077;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170446	108170446	11:g.108170446G>T	ClinGen:CA16605809	CN169374 not specified;
NM_000051.4(ATM):c.5011G>A (p.Val1671Ile)	472	ATM	Uncertain significance	1057523385	RCV001911491;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170446	108170446	108170446	-
NM_000051.4(ATM):c.5012T>C (p.Val1671Ala)	472	ATM	Uncertain significance	1361913028	RCV001345321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170447	108170447	108170447	-
NM_000051.4(ATM):c.5015del (p.Gly1672fs)	472	ATM	Pathogenic/Likely pathogenic	864622662	RCV000205871\|RCV000573731\|RCV003468964;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170449	108170449	NC_000011.9:g.108170450del	ClinGen:CA349969	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5014G>A (p.Gly1672Arg)	472	ATM	Uncertain significance	1330898827	RCV001317448\|RCV001806113;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170449	108170449	108170449	-
NM_000051.4(ATM):c.5018G>A (p.Ser1673Asn)	472	ATM	Uncertain significance	878853515	RCV000226192\|RCV003319336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108170453	108170453	NC_000011.9:g.108170453G>A	ClinGen:CA10582823	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5019C>T (p.Ser1673=)	472	ATM	Likely benign	1565473483	RCV002337235\|RCV002215001;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170454	108170454	108170454	-
NM_000051.4(ATM):c.5020T>C (p.Cys1674Arg)	472	ATM	Uncertain significance	1555104511	RCV000582588\|RCV001035112;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170455	108170455	11:g.108170455T>C	ClinGen:CA382540139	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5021G>A (p.Cys1674Tyr)	472	ATM	Uncertain significance	1555104518	RCV000526333;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170456	108170456	11:g.108170456G>A	ClinGen:CA382540167	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5022C>G (p.Cys1674Trp)	472	ATM	Uncertain significance	2083319473	RCV001325498\|RCV003462899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170457	108170457	108170457	-
NM_000051.4(ATM):c.5023T>C (p.Leu1675=)	472	ATM	Likely benign	876660275	RCV000220390\|RCV000628222;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170458	108170458	11:g.108170458T>C	ClinGen:CA10579170	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5028_5036del (p.Glu1677_Gly1679del)	472	ATM	Uncertain significance	1555104529	RCV000627891;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170459	108170467	11:g.108170459_108170467del	ClinGen:CA658797734	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5027G>A (p.Gly1676Glu)	472	ATM	Uncertain significance	1565473530	RCV000693240\|RCV003151806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108170462	108170462	11:g.108170462G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5028_5045del (p.Glu1677_Asp1682del)	472	ATM	Uncertain significance	2135888605	RCV002005977;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170463	108170480	108170462	-
NM_000051.4(ATM):c.5031A>C (p.Glu1677Asp)	472	ATM	Uncertain significance	2083320477	RCV001304230;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170466	108170466	108170466	-
NM_000051.4(ATM):c.5032G>A (p.Val1678Met)	472	ATM	Uncertain significance	1299754311	RCV002006511\|RCV002344173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170467	108170467	108170467	-
NM_000051.4(ATM):c.5033T>A (p.Val1678Glu)	472	ATM	Uncertain significance	878853516	RCV000230163\|RCV003233507;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108170468	108170468	NC_000011.9:g.108170468T>A	ClinGen:CA10582824	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5033T>G (p.Val1678Gly)	472	ATM	Uncertain significance	878853516	RCV001319570;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170468	108170468	108170468	-
NM_000051.4(ATM):c.5034G>C (p.Val1678=)	472	ATM	Likely benign	1555104548	RCV000542045\|RCV000581879\|RCV001357787;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108170469	108170469	11:g.108170469G>C	ClinGen:CA476674665	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5034_5035delinsTC (p.Gly1679Arg)	472	ATM	Uncertain significance	2083321272	RCV001212393;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170469	108170470	NC_000011.9:g.108170469_108170470delinsTC	-
NM_000051.4(ATM):c.5036G>T (p.Gly1679Val)	472	ATM	Uncertain significance	1064794124	RCV000483015\|RCV000554656\|RCV002341134;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170471	108170471	11:g.108170471G>T	ClinGen:CA16619192	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5036G>A (p.Gly1679Asp)	472	ATM	Uncertain significance	1064794124	RCV000575935\|RCV000792543\|RCV001356167;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015278,MedGen:C2931038, Orphanet:1333	11	108170471	108170471	11:g.108170471G>A	ClinGen:CA382540317	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5038C>G (p.Pro1680Ala)	472	ATM	Uncertain significance	1565473572	RCV000694833\|RCV002334310;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170473	108170473	NC_000011.9:g.108170473C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5039C>T (p.Pro1680Leu)	472	ATM	Conflicting interpretations of pathogenicity	587782153	RCV000130731\|RCV000205355\|RCV000481018\|RCV003461998;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170474	108170474	11:g.108170474C>T	ClinGen:CA166999	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5039C>G (p.Pro1680Arg)	472	ATM	Uncertain significance	587782153	RCV000627878;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170474	108170474	11:g.108170474C>G	ClinGen:CA382540338	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5041A>G (p.Ile1681Val)	472	ATM	Uncertain significance	1298268285	RCV000628164\|RCV000773166;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170476	108170476	NC_000011.9:g.108170476A>G	ClinGen:CA382540342	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5042T>C (p.Ile1681Thr)	472	ATM	Uncertain significance	1307715383	RCV000525974\|RCV000572412\|RCV001584234;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108170477	108170477	11:g.108170477T>C	ClinGen:CA382540369	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5042T>G (p.Ile1681Arg)	472	ATM	Uncertain significance	1307715383	RCV001984606;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170477	108170477	108170477	-
NM_000051.4(ATM):c.5043A>G (p.Ile1681Met)	472	ATM	Uncertain significance	2083322309	RCV001068390;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170478	108170478	11:g.108170478A>G	-
NM_000051.4(ATM):c.5044G>A (p.Asp1682Asn)	472	ATM	Uncertain significance	121434217	RCV001935362;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170479	108170479	108170479	-
NM_000051.4(ATM):c.5044G>T (p.Asp1682Tyr)	472	ATM	Uncertain significance	-1	RCV002335684\|RCV003096587;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170479	108170479	108170479	-
NM_000051.4(ATM):c.5045A>G (p.Asp1682Gly)	472	ATM	Uncertain significance	980731959	RCV000580017\|RCV000817816\|RCV003441964;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108170480	108170480	NC_000011.9:g.108170480A>G	ClinGen:CA228386099	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5046T>C (p.Asp1682=)	472	ATM	Likely benign	2135889217	RCV002171224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170481	108170481	108170481	-
NM_000051.4(ATM):c.5048_5052del (p.Phe1683fs)	472	ATM	Pathogenic	2135889257	RCV001987993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170482	108170486	108170481	-
NM_000051.4(ATM):c.5048T>A (p.Phe1683Tyr)	472	ATM	Uncertain significance	2083322735	RCV001984208;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170483	108170483	108170483	-
NM_000051.4(ATM):c.5049C>A (p.Phe1683Leu)	472	ATM	Uncertain significance	1183084231	RCV000699969\|RCV002281125\|RCV002334345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170484	108170484	11:g.108170484C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5050T>A (p.Ser1684Thr)	472	ATM	Uncertain significance	1591702098	RCV001023478\|RCV001319138;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170485	108170485	11:g.108170485T>A	-
NM_000051.4(ATM):c.5051C>G (p.Ser1684Cys)	472	ATM	Uncertain significance	1565473651	RCV000707269;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170486	108170486	11:g.108170486C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5051C>T (p.Ser1684Phe)	472	ATM	Uncertain significance	1565473651	RCV001931263;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170486	108170486	108170486	-
NM_000051.4(ATM):c.5053A>G (p.Thr1685Ala)	472	ATM	Uncertain significance	879254205	RCV000236018\|RCV000571535\|RCV000801609\|RCV001249855\|RCV003463700;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,O	11	108170488	108170488	NC_000011.9:g.108170488A>G	ClinGen:CA10584344	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5053A>T (p.Thr1685Ser)	472	ATM	Uncertain significance	-1	RCV002662339;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170488	108170488	NC_000011.9:g.108170488A>T	-
NM_000051.4(ATM):c.5054C>T (p.Thr1685Ile)	472	ATM	Uncertain significance	879254191	RCV000236557\|RCV001854869;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170489	108170489	11:g.108170489C>T	ClinGen:CA10584345	CN169374 not specified;
NM_000051.4(ATM):c.5055C>T (p.Thr1685=)	472	ATM	Likely benign	587780551	RCV000119207\|RCV000223035\|RCV003323406;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108170490	108170490	11:g.108170490C>T	ClinGen:CA332085	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5056A>G (p.Ile1686Val)	472	ATM	Uncertain significance	145453814	RCV000132035\|RCV000206455\|RCV000486650\|RCV001354982\|RCV001798457\|RCV003467188;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108170491	108170491	11:g.108170491A>G	ClinGen:CA169104	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5057T>C (p.Ile1686Thr)	472	ATM	Uncertain significance	878853517	RCV000233021\|RCV003362732;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170492	108170492	NC_000011.9:g.108170492T>C	ClinGen:CA10582825	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5059G>A (p.Ala1687Thr)	472	ATM	Uncertain significance	1555104597	RCV001071408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170494	108170494	11:g.108170494G>A	-
NM_000051.4(ATM):c.5060C>G (p.Ala1687Gly)	472	ATM	Uncertain significance	1591702201	RCV000805027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170495	108170495	11:g.108170495C>G	-
NM_000051.4(ATM):c.5060C>T (p.Ala1687Val)	472	ATM	Uncertain significance	-1	RCV002335795\|RCV003096596;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170495	108170495	108170495	-
NM_000051.4(ATM):c.5062A>G (p.Ile1688Val)	472	ATM	Uncertain significance	766053182	RCV000470295\|RCV000481399\|RCV000568598\|RCV000779765\|RCV003470440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170497	108170497	NC_000011.9:g.108170497A>G	ClinGen:CA6265624	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5063T>C (p.Ile1688Thr)	472	ATM	Conflicting interpretations of pathogenicity	199836342	RCV000130648\|RCV000538544\|RCV000484463\|RCV001194272\|RCV001535791\|RCV003149900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0007254,MedGen:C000614	11	108170498	108170498	11:g.108170498T>C	ClinGen:CA166824	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5063T>G (p.Ile1688Arg)	472	ATM	Uncertain significance	199836342	RCV001056327\|RCV002348416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170498	108170498	11:g.108170498T>G	-
NM_000051.4(ATM):c.5064A>C (p.Ile1688=)	472	ATM	Likely benign	1565473763	RCV002164074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170499	108170499	108170499	-
NM_000051.4(ATM):c.5065C>T (p.Gln1689Ter)	472	ATM	Pathogenic	1555104609	RCV000562426\|RCV000627893\|RCV003470811;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170500	108170500	11:g.108170500C>T	ClinGen:CA382540526	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5066A>G (p.Gln1689Arg)	472	ATM	Uncertain significance	1555104616	RCV000555410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170501	108170501	11:g.108170501A>G	ClinGen:CA382540535	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5067A>G (p.Gln1689=)	472	ATM	Likely benign	1555104621	RCV000628262;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170502	108170502	11:g.108170502A>G	ClinGen:CA476674688	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5068C>G (p.His1690Asp)	472	ATM	Uncertain significance	1591702291	RCV000793100;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170503	108170503	11:g.108170503C>G	-
NM_000051.4(ATM):c.5069A>G (p.His1690Arg)	472	ATM	Uncertain significance	863224574	RCV000198468\|RCV000562140\|RCV000589674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108170504	108170504	NC_000011.9:g.108170504A>G	ClinGen:CA337943	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5070del (p.His1690fs)	472	ATM	Pathogenic	2083325659	RCV001224482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170505	108170505	11:g.108170505_108170505del	-
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg)	472	ATM	Conflicting interpretations of pathogenicity	1800059	RCV000115204\|RCV000119119\|RCV000120143\|RCV000679127\|RCV001354566\|RCV001798318;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562	11	108170506	108170506	NC_000011.9:g.108170506A>C	ClinGen:CA157131,UniProtKB:Q13315#VAR_010830	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5071A>G (p.Ser1691Gly)	472	ATM	Uncertain significance	1800059	RCV001340517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170506	108170506	108170506	-
NM_000051.4(ATM):c.5073_5074dup (p.Lys1692fs)	472	ATM	Pathogenic	2083326327	RCV001244218;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170507	108170508	11:g.108170507_108170508insTA	-
NM_000051.4(ATM):c.5076del (p.Asp1693fs)	472	ATM	Pathogenic	1591702340	RCV000802279;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170509	108170509	11:g.108170509_108170509del	-
NM_000051.4(ATM):c.5074A>G (p.Lys1692Glu)	472	ATM	Uncertain significance	2083326508	RCV001305400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170509	108170509	108170509	-
NM_000051.4(ATM):c.5076A>C (p.Lys1692Asn)	472	ATM	Uncertain significance	767841041	RCV000235459\|RCV000470161\|RCV000575591;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170511	108170511	NC_000011.9:g.108170511A>C	ClinGen:CA6265625	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5077G>C (p.Asp1693His)	472	ATM	Uncertain significance	1591702362	RCV000806395\|RCV003166258;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170512	108170512	11:g.108170512G>C	-
NM_000051.4(ATM):c.5078A>T (p.Asp1693Val)	472	ATM	Uncertain significance	1591702387	RCV000820320\|RCV001805899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170513	108170513	11:g.108170513A>T	-
NM_000051.4(ATM):c.5079T>C (p.Asp1693=)	472	ATM	Likely benign	753036834	RCV001524505\|RCV002070307;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170514	108170514	108170514	-
NM_000051.4(ATM):c.5080G>A (p.Ala1694Thr)	472	ATM	Conflicting interpretations of pathogenicity	756197350	RCV000462765\|RCV000481315\|RCV000583320;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170515	108170515	NC_000011.9:g.108170515G>A	ClinGen:CA6265627	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5081C>G (p.Ala1694Gly)	472	ATM	Uncertain significance	587782551	RCV000131765\|RCV001048603;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170516	108170516	11:g.108170516C>G	ClinGen:CA168721	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5081C>T (p.Ala1694Val)	472	ATM	Uncertain significance	587782551	RCV000531594\|RCV002289715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170516	108170516	NC_000011.9:g.108170516C>T	ClinGen:CA382540630	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5082A>G (p.Ala1694=)	472	ATM	Likely benign	778014234	RCV000628298\|RCV001453364;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170517	108170517	11:g.108170517A>G	ClinGen:CA6265628	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5085T>G (p.Ser1695=)	472	ATM	Likely benign	2135890366	RCV001488707;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170520	108170520	108170520	-
NM_000051.4(ATM):c.5087A>G (p.Tyr1696Cys)	472	ATM	Uncertain significance	1555104673	RCV000568116\|RCV000811259;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170522	108170522	11:g.108170522A>G	ClinGen:CA382540660	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5087A>T (p.Tyr1696Phe)	472	ATM	Uncertain significance	1555104673	RCV000580702\|RCV001103815;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170522	108170522	11:g.108170522A>T	ClinGen:CA382540662	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5088T>C (p.Tyr1696=)	472	ATM	Likely benign	786203476	RCV000166795\|RCV001406613\|RCV003316057;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170523	108170523	11:g.108170523T>C	ClinGen:CA196753	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5088T>G (p.Tyr1696Ter)	472	ATM	Pathogenic	786203476	RCV001389195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170523	108170523	108170523	-
NM_000051.4(ATM):c.5089A>G (p.Thr1697Ala)	472	ATM	Conflicting interpretations of pathogenicity	142455912	RCV000115205\|RCV000200336\|RCV000212027\|RCV000515379\|RCV000779803\|RCV001354115\|RCV001798319\|RCV002225320;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108170524	108170524	NC_000011.9:g.108170524A>G	ClinGen:CA286873	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5091C>T (p.Thr1697=)	472	ATM	Likely benign	1555104680	RCV000604875\|RCV002066507;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170526	108170526	11:g.108170526C>T	ClinGen:CA476674699	CN169374 not specified;
NM_000051.4(ATM):c.5093A>T (p.Lys1698Met)	472	ATM	Uncertain significance	1591702557	RCV000791601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170528	108170528	11:g.108170528A>T	-
NM_000051.4(ATM):c.5096C>T (p.Ala1699Val)	472	ATM	Uncertain significance	992234584	RCV000779794\|RCV001023528\|RCV001308098;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170531	108170531	NC_000011.9:g.108170531C>T	-
NM_000051.4(ATM):c.5097C>A (p.Ala1699=)	472	ATM	Likely benign	2135890740	RCV001461544;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170532	108170532	108170532	-
NM_000051.4(ATM):c.5100dup (p.Lys1701Ter)	472	ATM	Pathogenic	2135890847	RCV002002476;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170533	108170534	108170533	-
NM_000051.4(ATM):c.5098C>T (p.Leu1700Phe)	472	ATM	Uncertain significance	2135890776	RCV001969467\|RCV002334994;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170533	108170533	108170533	-
NM_000051.4(ATM):c.5102_5106del (p.Lys1701fs)	472	ATM	Pathogenic/Likely pathogenic	1555104693	RCV000550188\|RCV001009291\|RCV002341239;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170534	108170538	NC_000011.9:g.108170537_108170541del	ClinGen:CA658656233	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5099T>G (p.Leu1700Arg)	472	ATM	Uncertain significance	2135890816	RCV001982570;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170534	108170534	108170534	-
NM_000051.4(ATM):c.5100T>C (p.Leu1700=)	472	ATM	Likely benign	-1	RCV002351488\|RCV003096616;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170535	108170535		-
NM_000051.4(ATM):c.5101A>G (p.Lys1701Glu)	472	ATM	Uncertain significance	746220021	RCV000165416\|RCV001327802;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170536	108170536	11:g.108170536A>G	ClinGen:CA193341	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5102A>C (p.Lys1701Thr)	472	ATM	Uncertain significance	2083330722	RCV001321121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170537	108170537	108170537	-
NM_000051.4(ATM):c.5106A>G (p.Leu1702=)	472	ATM	Likely benign	2083331055	RCV002218681\|RCV002337238;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170541	108170541	108170541	-
NM_000051.4(ATM):c.5107T>C (p.Phe1703Leu)	472	ATM	Uncertain significance	1591702635	RCV001023554\|RCV001873374;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170542	108170542	11:g.108170542T>C	-
NM_000051.4(ATM):c.5107T>G (p.Phe1703Val)	472	ATM	Uncertain significance	-1	RCV002927943;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170542	108170542	NC_000011.9:g.108170542T>G	-
NM_000051.4(ATM):c.5108T>C (p.Phe1703Ser)	472	ATM	Uncertain significance	772376652	RCV000543924\|RCV000777913\|RCV003470672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170543	108170543	11:g.108170543T>C	ClinGen:CA6265631	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5111A>G (p.Glu1704Gly)	472	ATM	Uncertain significance	2083331490	RCV001314441\|RCV002350571;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170546	108170546	108170546	-
NM_000051.4(ATM):c.5113G>A (p.Asp1705Asn)	472	ATM	Uncertain significance	1565474013	RCV000772384\|RCV001850962;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170548	108170548	NC_000011.9:g.108170548G>A	-
NM_000051.4(ATM):c.5114A>G (p.Asp1705Gly)	472	ATM	Conflicting interpretations of pathogenicity	2083331705	RCV001057705\|RCV002339288;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170549	108170549	11:g.108170549A>G	-
NM_000051.4(ATM):c.5114A>T (p.Asp1705Val)	472	ATM	Uncertain significance	-1	RCV002795838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170549	108170549	NC_000011.9:g.108170549A>T	-
NM_000051.4(ATM):c.5115T>C (p.Asp1705=)	472	ATM	Likely benign	876658685	RCV000216632\|RCV001397265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170550	108170550	11:g.108170550T>C	ClinGen:CA10579171	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5118_5121del (p.Lys1706fs)	472	ATM	Pathogenic/Likely pathogenic	1591702700	RCV001023570\|RCV001862266\|RCV002505548;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170551	108170554	11:g.108170551_108170554del	-
NM_000051.4(ATM):c.5118A>G (p.Lys1706=)	472	ATM	Likely benign	3218672	RCV000917894\|RCV001023571;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170553	108170553	11:g.108170553A>G	-
NM_000051.4(ATM):c.5119G>A (p.Glu1707Lys)	472	ATM	Uncertain significance	1565474056	RCV000702770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170554	108170554	11:g.108170554G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5121A>G (p.Glu1707=)	472	ATM	Likely benign	2135891426	RCV001451494\|RCV002342000;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170556	108170556	108170556	-
NM_000051.4(ATM):c.5122C>T (p.Leu1708Phe)	472	ATM	Uncertain significance	1555104730	RCV000565737\|RCV001053023;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170557	108170557	11:g.108170557C>T	ClinGen:CA382540865	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5124T>G (p.Leu1708=)	472	ATM	Likely benign	864622668	RCV001439805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170559	108170559	NC_000011.9:g.108170559T>G	ClinGen:CA348638	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5125C>A (p.Gln1709Lys)	472	ATM	Uncertain significance	1341457041	RCV000551955\|RCV000568922\|RCV003470673;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170560	108170560	11:g.108170560C>A	ClinGen:CA382540873	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5126A>G (p.Gln1709Arg)	472	ATM	Uncertain significance	587780627	RCV000122858\|RCV001023582;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170561	108170561	NC_000011.9:g.108170561A>G	ClinGen:CA332339	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5127G>C (p.Gln1709His)	472	ATM	Uncertain significance	1057521839	RCV000693914;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170562	108170562	NC_000011.9:g.108170562G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5129_5763-1060del	472	ATM	Likely pathogenic	-1	RCV000823614;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170564	108179827	108170563	-
NM_000051.4(ATM):c.5130_5131delinsAC (p.Trp1710_Thr1711delinsTer)	472	ATM	Likely pathogenic	1057516358	RCV000410022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170565	108170566	NC_000011.9:g.108170565_108170566delinsAC	ClinGen:CA16041414	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5132C>G (p.Thr1711Ser)	472	ATM	Uncertain significance	1291016764	RCV000702264\|RCV001177160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170567	108170567	11:g.108170567C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5132C>A (p.Thr1711Asn)	472	ATM	Uncertain significance	1291016764	RCV000988691;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170567	108170567	11:g.108170567C>A	-
NM_000051.4(ATM):c.5132C>T (p.Thr1711Ile)	472	ATM	Uncertain significance	1291016764	RCV001048266\|RCV001190880;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170567	108170567	11:g.108170567C>T	-
NM_000051.4(ATM):c.5133C>T (p.Thr1711=)	472	ATM	Likely benign	1357021067	RCV000773379\|RCV001503844;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170568	108170568	NC_000011.9:g.108170568C>T	-
NM_000051.4(ATM):c.5133C>G (p.Thr1711=)	472	ATM	Likely benign	1357021067	RCV001506294;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170568	108170568	11:g.108170568C>G	-
NM_000051.4(ATM):c.5134_5136del (p.Phe1712del)	472	ATM	Uncertain significance	2135891905	RCV002046585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170568	108170570	108170567	-
NM_000051.4(ATM):c.5134T>C (p.Phe1712Leu)	472	ATM	Uncertain significance	2135891932	RCV001943443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170569	108170569	108170569	-
NM_000051.4(ATM):c.5136C>T (p.Phe1712=)	472	ATM	Likely benign	786203371	RCV000166648\|RCV001459588;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170571	108170571	11:g.108170571C>T	ClinGen:CA196384	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5137A>G (p.Ile1713Val)	472	ATM	Uncertain significance	-1	RCV002608615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170572	108170572	NC_000011.9:g.108170572A>G	-
NM_000051.4(ATM):c.5138T>C (p.Ile1713Thr)	472	ATM	Uncertain significance	1199544303	RCV000627868\|RCV002343181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170573	108170573	11:g.108170573T>C	ClinGen:CA382540960	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5139A>C (p.Ile1713=)	472	ATM	Likely benign	1233346885	RCV000978773;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170574	108170574	11:g.108170574A>C	-
NM_000051.4(ATM):c.5141T>G (p.Met1714Arg)	472	ATM	Uncertain significance	1591702873	RCV000815407\|RCV001023608;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170576	108170576	11:g.108170576T>G	-
NM_000051.4(ATM):c.5144T>C (p.Leu1715Pro)	472	ATM	Conflicting interpretations of pathogenicity	747800057	RCV000233443\|RCV000481313\|RCV000579553\|RCV003469127;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170579	108170579	NC_000011.9:g.108170579T>C	ClinGen:CA6265633	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5145G>A (p.Leu1715=)	472	ATM	Likely benign	786202765	RCV000165740\|RCV000205331\|RCV001706083\|RCV003316048\|RCV003330525;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374	11	108170580	108170580	11:g.108170580G>A	ClinGen:CA194117	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5145G>T (p.Leu1715=)	472	ATM	Likely benign	-1	RCV002856911;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170580	108170580		-
NM_000051.4(ATM):c.5150dup (p.Tyr1717Ter)	472	ATM	Pathogenic	1591702911	RCV001023621\|RCV001056532;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170584	108170585	11:g.108170584_108170585insA	-
NM_000051.4(ATM):c.5152C>G (p.Leu1718Val)	472	ATM	Uncertain significance	-1	RCV002297400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170587	108170587	108170587	-
NM_000051.4(ATM):c.5153T>A (p.Leu1718Gln)	472	ATM	Uncertain significance	1555104784	RCV000580044\|RCV001853855;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170588	108170588	NC_000011.9:g.108170588T>A	ClinGen:CA382541057	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5154G>A (p.Leu1718=)	472	ATM	Likely benign	1555104785	RCV000628320;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170589	108170589	NC_000011.9:g.108170589G>A	ClinGen:CA476674729	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5156del (p.Asn1719fs)	472	ATM	Pathogenic	1591702951	RCV001023636\|RCV001192421;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170590	108170590	11:g.108170590_108170590del	-
NM_000051.4(ATM):c.5155A>G (p.Asn1719Asp)	472	ATM	Uncertain significance	2083336312	RCV001327158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170590	108170590	108170590	-
NM_000051.4(ATM):c.5156A>G (p.Asn1719Ser)	472	ATM	Uncertain significance	183531638	RCV000485988\|RCV000546123\|RCV000565111\|RCV002481518\|RCV003470569;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108170591	108170591	11:g.108170591A>G	ClinGen:CA6265636	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5157T>C (p.Asn1719=)	472	ATM	Likely benign	786203254	RCV000166482\|RCV000227287\|RCV001721081;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108170592	108170592	11:g.108170592T>C	ClinGen:CA195995	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5158A>G (p.Asn1720Asp)	472	ATM	Uncertain significance	2135892784	RCV002027330;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170593	108170593	108170593	-
NM_000051.4(ATM):c.5160C>A (p.Asn1720Lys)	472	ATM	Uncertain significance	1565474287	RCV000709184\|RCV002334400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170595	108170595	NC_000011.9:g.108170595C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5161A>G (p.Thr1721Ala)	472	ATM	Uncertain significance	-1	RCV003065408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170596	108170596	NC_000011.9:g.108170596A>G	-
NM_000051.4(ATM):c.5162C>T (p.Thr1721Ile)	472	ATM	Uncertain significance	786203910	RCV000167421\|RCV002515182;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170597	108170597	11:g.108170597C>T	ClinGen:CA198258	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5163A>G (p.Thr1721=)	472	ATM	Likely benign	1565474295	RCV002193029;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170598	108170598	108170598	-
NM_000051.4(ATM):c.5164C>T (p.Leu1722=)	472	ATM	Likely benign	1255639252	RCV001023645\|RCV001479243;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170599	108170599	11:g.108170599C>T	-
NM_000051.4(ATM):c.5166_5168dup (p.Val1723_Glu1724insVal)	472	ATM	Uncertain significance	-1	RCV002863652;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170599	108170600	NC_000011.9:g.108170601_108170603dup	-
NM_000051.4(ATM):c.5167del (p.Leu1722_Val1723insTer)	472	ATM	Pathogenic	2135893101	RCV001914252;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170601	108170601	108170600	-
NM_000051.4(ATM):c.5167G>A (p.Val1723Ile)	472	ATM	Uncertain significance	1565474312	RCV000773527\|RCV002534075;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170602	108170602	NC_000011.9:g.108170602G>A	-
NM_000051.4(ATM):c.5168T>C (p.Val1723Ala)	472	ATM	Uncertain significance	915337829	RCV000571431\|RCV000797261;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170603	108170603	NC_000011.9:g.108170603T>C	ClinGen:CA228386278	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5169A>G (p.Val1723=)	472	ATM	Likely benign	2135893173	RCV001399837;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170604	108170604	108170604	-
NM_000051.4(ATM):c.5172dup (p.Asp1725fs)	472	ATM	Pathogenic/Likely pathogenic	2135893222	RCV001780656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170605	108170606	108170605	-
NM_000051.4(ATM):c.5171A>G (p.Glu1724Gly)	472	ATM	Uncertain significance	2135893191	RCV001893297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170606	108170606	108170606	-
NM_000051.4(ATM):c.5173G>T (p.Asp1725Tyr)	472	ATM	Uncertain significance	1555104799	RCV000558375\|RCV001662532;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108170608	108170608	11:g.108170608G>T	ClinGen:CA382541215	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5173G>A (p.Asp1725Asn)	472	ATM	Uncertain significance	-1	RCV002626017;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170608	108170608	NC_000011.9:g.108170608G>A	-
NM_000051.4(ATM):c.5175T>C (p.Asp1725=)	472	ATM	Likely benign	1555104803	RCV000534562\|RCV001023661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170610	108170610	11:g.108170610T>C	ClinGen:CA476674744	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5176T>G (p.Cys1726Gly)	472	ATM	Uncertain significance	770882126	RCV001180026\|RCV001040691\|RCV002260677;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108170611	108170611	11:g.108170611T>G	-
NM_000051.4(ATM):c.5177+1del	472	ATM	Likely pathogenic	2083338520	RCV001049304;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170612	108170612	11:g.108170612_108170612del	-
NM_000051.4(ATM):c.5177G>T (p.Cys1726Phe)	472	ATM	Uncertain significance	2083338412	RCV001223308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170612	108170612	11:g.108170612G>T	-
NM_000051.4(ATM):c.5177+1G>A	472	ATM	Pathogenic	1131691159	RCV000493729\|RCV000587062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170613	108170613	NC_000011.9:g.108170613G>A	ClinGen:CA382541263	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5177+1G>C	472	ATM	Pathogenic/Likely pathogenic	1131691159	RCV001063621\|RCV001563590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108170613	108170613	11:g.108170613G>C	-
NM_000051.4(ATM):c.5177+3_5177+6del	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002646185\|RCV003465806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170613	108170616	NC_000011.9:g.108170615_108170618del	-
NM_000051.4(ATM):c.5177+3G>A	472	ATM	Conflicting interpretations of pathogenicity	774216164	RCV000547011\|RCV001181367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108170615	108170615	11:g.108170615G>A	ClinGen:CA6265638	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5177+4A>C	472	ATM	Uncertain significance	2083338902	RCV001185202\|RCV001222614;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170616	108170616	11:g.108170616A>C	-
NM_000051.4(ATM):c.5177+5G>A	472	ATM	Conflicting interpretations of pathogenicity	759373136	RCV000673901\|RCV000777914\|RCV003459643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108170617	108170617	11:g.108170617G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5177+5G>T	472	ATM	Uncertain significance	759373136	RCV001315906;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170617	108170617	108170617	-
NM_000051.4(ATM):c.5177+6T>A	472	ATM	Uncertain significance	1555104814	RCV000628149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170618	108170618	11:g.108170618T>A	ClinGen:CA658797739	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5177+10_5177+13del	472	ATM	Likely benign	-1	RCV003023541;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170618	108170621	NC_000011.9:g.108170618TATT[1]	-
NM_000051.4(ATM):c.5177+7A>G	472	ATM	Likely benign	2135893538	RCV002080245;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170619	108170619	108170619	-
NM_000051.4(ATM):c.5177+9T>C	472	ATM	Likely benign	767425639	RCV001431674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170621	108170621	108170621	-
NM_000051.4(ATM):c.5177+14G>C	472	ATM	Likely benign	2135893694	RCV002092487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170626	108170626	108170626	-
NM_000051.4(ATM):c.5177+16T>A	472	ATM	Likely benign	2135893735	RCV002077650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170628	108170628	108170628	-
NC_000011.9:g.(?_108170929)_(108196046_?)del	472	ATM	Uncertain significance	-1	RCV003119175;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108170929	108196046		-
NM_000051.4(ATM):c.5178-18T>C	472	ATM	Likely benign	1057522381	RCV000431026\|RCV002062790;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172357	108172357	11:g.108172357T>C	ClinGen:CA16606192	CN169374 not specified;
NM_000051.4(ATM):c.5178-15A>C	472	ATM	Likely benign	-1	RCV003050959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172360	108172360	NC_000011.9:g.108172360A>C	-
NM_000051.4(ATM):c.5178-14A>G	472	ATM	Uncertain significance	-1	RCV003061424;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172361	108172361	NC_000011.9:g.108172361A>G	-
NM_000051.4(ATM):c.5178-11G>A	472	ATM	Conflicting interpretations of pathogenicity	200876654	RCV000428412\|RCV000672242\|RCV001179338\|RCV001357439;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108172364	108172364	11:g.108172364G>A	ClinGen:CA16606193	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5178-4dup	472	ATM	Conflicting interpretations of pathogenicity	747750958	RCV000561923\|RCV001555178\|RCV002060423;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172364	108172365	NC_000011.9:g.108172371dup	ClinGen:CA6265657	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5178-11G>T	472	ATM	Conflicting interpretations of pathogenicity	200876654	RCV001805561\|RCV002074202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172364	108172364	108172364	-
NM_000051.4(ATM):c.5178-10T>A	472	ATM	Uncertain significance	1565476613	RCV000700717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172365	108172365	11:g.108172365T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108172365)_(108236245_?)dup	472	ATM	Uncertain significance	-1	RCV000819904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172365	108236245		-
NM_000051.4(ATM):c.5178-10T>G	472	ATM	Uncertain significance	1565476613	RCV000822295;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172365	108172365	11:g.108172365T>G	-
NC_000011.9:g.(?_108172365)_(108236235_?)dup	472	ATM	Uncertain significance	-1	RCV001343102;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172365	108236235	-1	-
NM_000051.4(ATM):c.5178-9_5202del	472	ATM	Likely pathogenic	2135911351	RCV001976850;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172365	108172398	108172364	-
NC_000011.9:g.(?_108172365)_(108175589_?)del	472	ATM	Pathogenic	-1	RCV001983035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172365	108175589	-1	-
NM_000051.4(ATM):c.5178-4del	472	ATM	Benign/Likely benign	747750958	RCV002073769\|RCV002337248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172365	108172365	108172364	-
NM_000051.4(ATM):c.5178-9T>G	472	ATM	Likely benign	1555105562	RCV000559286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172366	108172366	11:g.108172366T>G	ClinGen:CA658656240	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5178-8T>G	472	ATM	Likely benign	2135911389	RCV001443743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172367	108172367	108172367	-
NM_000051.4(ATM):c.5178-7T>C	472	ATM	Conflicting interpretations of pathogenicity	1555105564	RCV000628294\|RCV001766333\|RCV003150312;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202\|MedGen:CN221562	11	108172368	108172368	NC_000011.9:g.108172368T>C	ClinGen:CA658797740	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5178-3del	472	ATM	Uncertain significance	1555105575	RCV000628215\|RCV003465379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172372	108172372	NC_000011.9:g.108172372del	ClinGen:CA658797742	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5178-2A>G	472	ATM	Pathogenic/Likely pathogenic	2135911500	RCV001823645\|RCV003464154;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172373	108172373	108172373	-
NM_000051.4(ATM):c.5178-1G>A	472	ATM	Pathogenic/Likely pathogenic	1555105579	RCV000674911\|RCV001023662;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172374	108172374	11:g.108172374G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5178T>G (p.Cys1726Trp)	472	ATM	Uncertain significance	1446243372	RCV001068557\|RCV001760046\|RCV002339342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172375	108172375	11:g.108172375T>G	-
NM_000051.4(ATM):c.5179G>A (p.Val1727Ile)	472	ATM	Uncertain significance	1064793458	RCV000485506\|RCV001061923\|RCV001525070\|RCV003470535;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172376	108172376	11:g.108172376G>A	ClinGen:CA16619194	CN169374 not specified;
NM_000051.4(ATM):c.5184dup (p.Val1729fs)	472	ATM	Pathogenic/Likely pathogenic	1555105588	RCV000627989\|RCV002256418\|RCV003459479;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172378	108172379	11:g.108172378_108172379insA	ClinGen:CA658797744	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5183A>G (p.Lys1728Arg)	472	ATM	Uncertain significance	1060501613	RCV000469661\|RCV000571264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172380	108172380	NC_000011.9:g.108172380A>G	ClinGen:CA16613366	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5183A>C (p.Lys1728Thr)	472	ATM	Uncertain significance	1060501613	RCV001023678\|RCV001832355;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172380	108172380	11:g.108172380A>C	-
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu)	472	ATM	Conflicting interpretations of pathogenicity	3092907	RCV000115206\|RCV000204511\|RCV000589866\|RCV001262810\|RCV002307394;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374	11	108172382	108172382	NC_000011.9:g.108172382G>C	ClinGen:CA286876,UniProtKB:Q13315#VAR_056687	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5186T>C (p.Val1729Ala)	472	ATM	Uncertain significance	1179068103	RCV000561288\|RCV001241743\|RCV003114688;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108172383	108172383	NC_000011.9:g.108172383T>C	ClinGen:CA382542124	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5186T>A (p.Val1729Asp)	472	ATM	Uncertain significance	-1	RCV002294893;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172383	108172383	108172383	-
NM_000051.4(ATM):c.5188C>T (p.Arg1730Ter)	472	ATM	Pathogenic/Likely pathogenic	764389018	RCV000169451\|RCV000570483\|RCV000657610\|RCV003162723\|RCV003468844;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:00	11	108172385	108172385	NC_000011.9:g.108172385C>T	ClinGen:CA334791	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5188C>A (p.Arg1730=)	472	ATM	Conflicting interpretations of pathogenicity	764389018	RCV000983786\|RCV002337037;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172385	108172385	11:g.108172385C>A	-
NM_000051.4(ATM):c.5189G>A (p.Arg1730Gln)	472	ATM	Uncertain significance	373789346	RCV000115207\|RCV000212028\|RCV000197381\|RCV000780913\|RCV002243761\|RCV002505031;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C000	11	108172386	108172386	NC_000011.9:g.108172386G>A	ClinGen:CA286879	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5189G>T (p.Arg1730Leu)	472	ATM	Conflicting interpretations of pathogenicity	373789346	RCV000463817\|RCV000580727;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172386	108172386	NC_000011.9:g.108172386G>T	ClinGen:CA16613065	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5189G>C (p.Arg1730Pro)	472	ATM	Uncertain significance	-1	RCV002663211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172386	108172386	NC_000011.9:g.108172386G>C	-
NM_000051.4(ATM):c.5190A>G (p.Arg1730=)	472	ATM	Likely benign	786201609	RCV000163965\|RCV000460695\|RCV000437433\|RCV001697060;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108172387	108172387	11:g.108172387A>G	ClinGen:CA189659	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5191T>C (p.Ser1731Pro)	472	ATM	Uncertain significance	1064793038	RCV000486676\|RCV000628146\|RCV002341122;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172388	108172388	11:g.108172388T>C	ClinGen:CA16619195	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5192C>G (p.Ser1731Ter)	472	ATM	Pathogenic/Likely pathogenic	886039627	RCV000255692\|RCV002521856;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172389	108172389	11:g.108172389C>G	ClinGen:CA10588504	CN517202 not provided;
NM_000051.4(ATM):c.5193AGC[1] (p.Ala1733del)	472	ATM	Uncertain significance	2135912045	RCV001926183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172389	108172391	108172388	-
NM_000051.4(ATM):c.5194G>A (p.Ala1732Thr)	472	ATM	Uncertain significance	730881372	RCV000159731\|RCV000469774\|RCV001023696;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172391	108172391	NC_000011.9:g.108172391G>A	ClinGen:CA298266	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5197G>A (p.Ala1733Thr)	472	ATM	Uncertain significance	1591708460	RCV001023699\|RCV001037821\|RCV003467677;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172394	108172394	11:g.108172394G>A	-
NM_000051.4(ATM):c.5198C>T (p.Ala1733Val)	472	ATM	Uncertain significance	-1	RCV002294911\|RCV002337439;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172395	108172395	108172395	-
NM_000051.4(ATM):c.5200del (p.Val1734fs)	472	ATM	Pathogenic	2135912272	RCV001917219;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172397	108172397	108172396	-
NM_000051.4(ATM):c.5201T>C (p.Val1734Ala)	472	ATM	Uncertain significance	-1	RCV003026010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172398	108172398	NC_000011.9:g.108172398T>C	-
NM_000051.4(ATM):c.5203dup (p.Thr1735fs)	472	ATM	Pathogenic/Likely pathogenic	878853518	RCV000231244\|RCV001023721\|RCV001795357\|RCV003463630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172399	108172400	11:g.108172399_108172400insA	ClinGen:CA10582826	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5204C>T (p.Thr1735Ile)	472	ATM	Uncertain significance	1555105650	RCV001820656\|RCV002545159;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172401	108172401	108172401	-
NM_000051.4(ATM):c.5205C>G (p.Thr1735=)	472	ATM	Likely benign	1060504283	RCV000466230\|RCV001023724;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172402	108172402	NC_000011.9:g.108172402C>G	ClinGen:CA16613368	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5205C>A (p.Thr1735=)	472	ATM	Likely benign	1060504283	RCV001406223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172402	108172402	108172402	-
NM_000051.4(ATM):c.5207G>A (p.Cys1736Tyr)	472	ATM	Uncertain significance	1172318140	RCV001060101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172404	108172404	11:g.108172404G>A	-
NM_000051.4(ATM):c.5209_5210del (p.Leu1737fs)	472	ATM	Pathogenic/Likely pathogenic	1555105660	RCV000627938\|RCV000657363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108172405	108172406	11:g.108172405_108172406del	ClinGen:CA658797745	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5210T>G (p.Leu1737Trp)	472	ATM	Uncertain significance	1591708558	RCV001023738\|RCV001363145;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172407	108172407	11:g.108172407T>G	-
NM_000051.4(ATM):c.5212A>G (p.Lys1738Glu)	472	ATM	Uncertain significance	1064793957	RCV000480919\|RCV001271264;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172409	108172409	11:g.108172409A>G	ClinGen:CA16619196	CN169374 not specified;
NM_000051.4(ATM):c.5217_5231del (p.Asn1739_Thr1743del)	472	ATM	Uncertain significance	2135912726	RCV001371781;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172411	108172425	108172410	-
NM_000051.4(ATM):c.5216A>G (p.Asn1739Ser)	472	ATM	Uncertain significance	-1	RCV002605199;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172413	108172413	NC_000011.9:g.108172413A>G	-
NM_000051.4(ATM):c.5216A>T (p.Asn1739Ile)	472	ATM	Uncertain significance	-1	RCV003041824;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172413	108172413	NC_000011.9:g.108172413A>T	-
NM_000051.4(ATM):c.5217C>T (p.Asn1739=)	472	ATM	Likely benign	876658271	RCV000223051\|RCV000940993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172414	108172414	11:g.108172414C>T	ClinGen:CA10579173	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5218A>G (p.Ile1740Val)	472	ATM	Uncertain significance	1358200819	RCV000691464\|RCV002334291;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172415	108172415	NC_000011.9:g.108172415A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5218A>C (p.Ile1740Leu)	472	ATM	Uncertain significance	1358200819	RCV000793267;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172415	108172415	11:g.108172415A>C	-
NM_000051.4(ATM):c.5220T>A (p.Ile1740=)	472	ATM	Likely benign	1452225772	RCV001448535;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172417	108172417	108172417	-
NM_000051.4(ATM):c.5222T>C (p.Leu1741Ser)	472	ATM	Uncertain significance	750896881	RCV000628201\|RCV001023759;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172419	108172419	11:g.108172419T>C	ClinGen:CA228387532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5223A>T (p.Leu1741Phe)	472	ATM	Uncertain significance	1591708658	RCV001023760\|RCV001342837\|RCV003467678;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172420	108172420	11:g.108172420A>T	-
NM_000051.4(ATM):c.5225C>T (p.Ala1742Val)	472	ATM	Uncertain significance	-1	RCV002646821\|RCV003167584;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172422	108172422	NC_000011.9:g.108172422C>T	-
NM_000051.4(ATM):c.5227A>G (p.Thr1743Ala)	472	ATM	Uncertain significance	758924620	RCV000535472\|RCV000579805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172424	108172424	11:g.108172424A>G	ClinGen:CA6265664	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5227A>T (p.Thr1743Ser)	472	ATM	Uncertain significance	758924620	RCV001887098\|RCV003166957;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172424	108172424	108172424	-
NM_000051.4(ATM):c.5228C>T (p.Thr1743Ile)	472	ATM	Conflicting interpretations of pathogenicity	587779844	RCV000115208\|RCV000168297\|RCV000220146\|RCV003460805;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172425	108172425	NC_000011.9:g.108172425C>T	ClinGen:CA286882,UniProtKB:Q13315#VAR_010831	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5229A>G (p.Thr1743=)	472	ATM	Likely benign	878853519	RCV000233826\|RCV001355205\|RCV003321557\|RCV003165590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172426	108172426	NC_000011.9:g.108172426A>G	ClinGen:CA10582827	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5232G>C (p.Lys1744Asn)	472	ATM	Uncertain significance	2083440178	RCV001234933\|RCV001249856;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108172429	108172429	11:g.108172429G>C	-
NM_000051.4(ATM):c.5232G>A (p.Lys1744=)	472	ATM	Likely benign	2083440178	RCV002198676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172429	108172429	108172429	-
NM_000051.4(ATM):c.5233A>C (p.Thr1745Pro)	472	ATM	Uncertain significance	587782532	RCV000131734\|RCV000628108\|RCV001762315;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108172430	108172430	11:g.108172430A>C	ClinGen:CA168671	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5235T>G (p.Thr1745=)	472	ATM	Likely benign	1591708727	RCV001445384\|RCV002336938;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172432	108172432	11:g.108172432T>G	-
NM_000051.4(ATM):c.5235T>C (p.Thr1745=)	472	ATM	Likely benign	1591708727	RCV001023777\|RCV002550890;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172432	108172432	11:g.108172432T>C	-
NM_000051.4(ATM):c.5235T>A (p.Thr1745=)	472	ATM	Likely benign	1591708727	RCV001411606\|RCV002341888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172432	108172432	108172432	-
NM_000051.4(ATM):c.5236G>A (p.Gly1746Arg)	472	ATM	Conflicting interpretations of pathogenicity	1060501571	RCV000465365\|RCV000566161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172433	108172433	NC_000011.9:g.108172433G>A	ClinGen:CA16613442	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5237G>T (p.Gly1746Val)	472	ATM	Uncertain significance	879254135	RCV000235883\|RCV000470344\|RCV000569852;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172434	108172434	NC_000011.9:g.108172434G>T	ClinGen:CA10584346	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5237G>A (p.Gly1746Glu)	472	ATM	Uncertain significance	-1	RCV003059200;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172434	108172434	NC_000011.9:g.108172434G>A	-
NM_000051.4(ATM):c.5240A>G (p.His1747Arg)	472	ATM	Uncertain significance	1555105695	RCV000527340\|RCV000564169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172437	108172437	11:g.108172437A>G	ClinGen:CA382542406	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5242A>C (p.Ser1748Arg)	472	ATM	Uncertain significance	876658175	RCV000221527\|RCV000235951\|RCV001220261;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172439	108172439	11:g.108172439A>C	ClinGen:CA10579174	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5244T>C (p.Ser1748=)	472	ATM	Likely benign	2083440966	RCV001479429;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172441	108172441	108172441	-
NM_000051.4(ATM):c.5244T>G (p.Ser1748Arg)	472	ATM	Uncertain significance	2083440966	RCV002002656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172441	108172441	108172441	-
NM_000051.4(ATM):c.5246T>C (p.Phe1749Ser)	472	ATM	Uncertain significance	1591708790	RCV000809287\|RCV001023796;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172443	108172443	11:g.108172443T>C	-
NM_000051.4(ATM):c.5247C>T (p.Phe1749=)	472	ATM	Likely benign	2083441197	RCV002162447;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172444	108172444	108172444	-
NM_000051.4(ATM):c.5249G>A (p.Trp1750Ter)	472	ATM	Pathogenic	1060501669	RCV000470546;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172446	108172446	NC_000011.9:g.108172446G>A	ClinGen:CA16613066	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5249G>T (p.Trp1750Leu)	472	ATM	Uncertain significance	1060501669	RCV001223794\|RCV002339594;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172446	108172446	11:g.108172446G>T	-
NM_000051.4(ATM):c.5250G>T (p.Trp1750Cys)	472	ATM	Uncertain significance	587779845	RCV000115209\|RCV000218694\|RCV000627853;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172447	108172447	NC_000011.9:g.108172447G>T	ClinGen:CA286884	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5250G>C (p.Trp1750Cys)	472	ATM	Uncertain significance	587779845	RCV000583574\|RCV000697278;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172447	108172447	11:g.108172447G>C	ClinGen:CA382542469	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5251G>C (p.Glu1751Gln)	472	ATM	Uncertain significance	755397489	RCV000535120\|RCV001023802;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172448	108172448	11:g.108172448G>C	ClinGen:CA6265665	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5253G>T (p.Glu1751Asp)	472	ATM	Uncertain significance	1370155496	RCV001372273;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172450	108172450	108172450	-
NM_000051.4(ATM):c.5255_5256insCT (p.Tyr1753fs)	472	ATM	Pathogenic	2083441908	RCV001068900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172451	108172452	11:g.108172451_108172452insTC	-
NM_000051.4(ATM):c.5255T>C (p.Ile1752Thr)	472	ATM	Uncertain significance	2083441818	RCV001066563\|RCV002339333;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172452	108172452	11:g.108172452T>C	-
NM_000051.4(ATM):c.5256T>C (p.Ile1752=)	472	ATM	Likely benign	1555105718	RCV000573821\|RCV001494680;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172453	108172453	NC_000011.9:g.108172453T>C	ClinGen:CA476674795	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5256T>A (p.Ile1752=)	472	ATM	Likely benign	1555105718	RCV000581442\|RCV002060610;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172453	108172453	NC_000011.9:g.108172453T>A	ClinGen:CA476674794	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5258A>G (p.Tyr1753Cys)	472	ATM	Uncertain significance	777481236	RCV000228787\|RCV001023807;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172455	108172455	11:g.108172455A>G	ClinGen:CA6265666	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5262G>T (p.Lys1754Asn)	472	ATM	Uncertain significance	748900588	RCV000230500\|RCV000482295\|RCV000572138\|RCV000763705\|RCV001355652\|RCV003469128;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108172459	108172459	NC_000011.9:g.108172459G>T	ClinGen:CA6265667	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5262G>A (p.Lys1754=)	472	ATM	Likely benign	748900588	RCV001523943\|RCV002070294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172459	108172459	108172459	-
NM_000051.4(ATM):c.5263A>G (p.Met1755Val)	472	ATM	Uncertain significance	876659150	RCV000223163\|RCV000679128\|RCV000702663;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172460	108172460	11:g.108172460A>G	ClinGen:CA10579175	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5264T>C (p.Met1755Thr)	472	ATM	Conflicting interpretations of pathogenicity	1555105739	RCV000547726\|RCV001023820;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172461	108172461	NC_000011.9:g.108172461T>C	ClinGen:CA382542556	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5264T>A (p.Met1755Lys)	472	ATM	Uncertain significance	1555105739	RCV001224959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172461	108172461	11:g.108172461T>A	-
NM_000051.4(ATM):c.5265G>T (p.Met1755Ile)	472	ATM	Uncertain significance	1060501556	RCV000461775;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172462	108172462	NC_000011.9:g.108172462G>T	ClinGen:CA16613370	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5265_5270delinsTTATAAGATTTATAAGAT (p.Met1755_Thr1757delinsIleTyrLysIleTyrLysIle)	472	ATM	Uncertain significance	2083442751	RCV001246650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172462	108172467	11:g.108172462_108172463insTATAAGATTTATAAGAT	-
NM_000051.4(ATM):c.5267C>G (p.Thr1756Arg)	472	ATM	Uncertain significance	786203369	RCV000166646\|RCV000471581\|RCV001257488\|RCV001358299\|RCV003221830;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	11	108172464	108172464	11:g.108172464C>G	ClinGen:CA196380	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5268A>T (p.Thr1756=)	472	ATM	Likely benign	1591708913	RCV000872800\|RCV001179008;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172465	108172465	11:g.108172465A>T	-
NM_000051.4(ATM):c.5268A>G (p.Thr1756=)	472	ATM	Likely benign	1591708913	RCV001406655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172465	108172465	108172465	-
NM_000051.4(ATM):c.5269A>C (p.Thr1757Pro)	472	ATM	Uncertain significance	1591708923	RCV001237514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172466	108172466	11:g.108172466A>C	-
NM_000051.4(ATM):c.5270C>T (p.Thr1757Ile)	472	ATM	Uncertain significance	587781575	RCV000129611\|RCV001857441;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172467	108172467	11:g.108172467C>T	ClinGen:CA164769	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5271A>G (p.Thr1757=)	472	ATM	Likely benign	1555105759	RCV000528119\|RCV000574240;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172468	108172468	NC_000011.9:g.108172468A>G	ClinGen:CA476674803	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5274T>A (p.Asp1758Glu)	472	ATM	Uncertain significance	913665369	RCV000580473\|RCV000700887;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172471	108172471	11:g.108172471T>A	ClinGen:CA228387603	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5276C>T (p.Pro1759Leu)	472	ATM	Uncertain significance	1565477222	RCV000693509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172473	108172473	11:g.108172473C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5277A>T (p.Pro1759=)	472	ATM	Likely benign	2135914528	RCV001488300;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172474	108172474	108172474	-
NM_000051.4(ATM):c.5278A>G (p.Met1760Val)	472	ATM	Uncertain significance	151327241	RCV000214190\|RCV000234490\|RCV000586617\|RCV000763706\|RCV001328040\|RCV001355137;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108172475	108172475	11:g.108172475A>G	ClinGen:CA6265668	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5278A>T (p.Met1760Leu)	472	ATM	Uncertain significance	151327241	RCV000774245\|RCV001350578;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172475	108172475	NC_000011.9:g.108172475A>T	-
NM_000051.4(ATM):c.5279dup (p.Met1760fs)	472	ATM	Pathogenic	2135914599	RCV001890859;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172475	108172476	108172475	-
NM_000051.4(ATM):c.5279T>A (p.Met1760Lys)	472	ATM	Uncertain significance	-1	RCV003054315;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172476	108172476	NC_000011.9:g.108172476T>A	-
NM_000051.4(ATM):c.5281C>G (p.Leu1761Val)	472	ATM	Uncertain significance	2083443935	RCV001339655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172478	108172478	108172478	-
NM_000051.4(ATM):c.5288_5298del (p.Tyr1763fs)	472	ATM	Pathogenic	2135914733	RCV001993078;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172481	108172491	108172480	-
NM_000051.4(ATM):c.5286_5293del (p.Tyr1763fs)	472	ATM	Pathogenic	1591709001	RCV000799649;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172482	108172489	11:g.108172482_108172489del	-
NM_000051.4(ATM):c.5285C>G (p.Ala1762Gly)	472	ATM	Uncertain significance	1272524343	RCV001216044;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172482	108172482	11:g.108172482C>G	-
NM_000051.4(ATM):c.5288_5289insGA (p.Tyr1763Ter)	472	ATM	Pathogenic/Likely pathogenic	1555105786	RCV000667940\|RCV002343417\|RCV003465480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172484	108172485	11:g.108172484_108172485insAG	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5288A>G (p.Tyr1763Cys)	472	ATM	Uncertain significance	1555105780	RCV000574121\|RCV001237989;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172485	108172485	NC_000011.9:g.108172485A>G	ClinGen:CA382542677	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5290del (p.Leu1764fs)	472	ATM	Pathogenic/Likely pathogenic	587779846	RCV000115210\|RCV000169483\|RCV000235105\|RCV003149794\|RCV003467027\|RCV003398711;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|	11	108172487	108172487	NC_000011.9:g.108172487del	ClinGen:CA286887	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5290C>G (p.Leu1764Val)	472	ATM	Uncertain significance	2083444552	RCV001348851\|RCV001524589;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172487	108172487	108172487	-
NM_000051.4(ATM):c.5291T>G (p.Leu1764Arg)	472	ATM	Uncertain significance	2135915061	RCV001369909;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172488	108172488	108172488	-
NM_000051.4(ATM):c.5292A>G (p.Leu1764=)	472	ATM	Likely benign	786201703	RCV000164115\|RCV000607880\|RCV000943350;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172489	108172489	11:g.108172489A>G	ClinGen:CA190073	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5293C>T (p.Gln1765Ter)	472	ATM	Pathogenic	2083444895	RCV001386150\|RCV001525189;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172490	108172490	108172490	-
NM_000051.4(ATM):c.5294A>G (p.Gln1765Arg)	472	ATM	Uncertain significance	35556390	RCV000461783\|RCV001023878;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172491	108172491	NC_000011.9:g.108172491A>G	ClinGen:CA16613443	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5300T>G (p.Phe1767Cys)	472	ATM	Uncertain significance	864622125	RCV000206146\|RCV000777915\|RCV001549797\|RCV003462363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172497	108172497	11:g.108172497T>G	ClinGen:CA350210	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5300T>C (p.Phe1767Ser)	472	ATM	Uncertain significance	864622125	RCV001178762\|RCV002559752;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172497	108172497	11:g.108172497T>C	-
NM_000051.4(ATM):c.5301T>C (p.Phe1767=)	472	ATM	Conflicting interpretations of pathogenicity	1468101040	RCV000575526\|RCV001298938;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172498	108172498	NC_000011.9:g.108172498T>C	ClinGen:CA476674827	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5304A>G (p.Arg1768=)	472	ATM	Likely benign	1591709095	RCV000875903\|RCV002346027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172501	108172501	11:g.108172501A>G	-
NM_000051.4(ATM):c.5306C>A (p.Thr1769Lys)	472	ATM	Likely benign	1192250974	RCV000988692;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172503	108172503	11:g.108172503C>A	-
NM_000051.4(ATM):c.5309C>G (p.Ser1770Ter)	472	ATM	Pathogenic	121434223	RCV000003183\|RCV000814605\|RCV003155908\|RCV003362659;	N	MONDO:MONDO:0019468,MedGen:C2363142, Orphanet:86871\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172506	108172506	11:g.108172506C>G	ClinGen:CA115949,OMIM:607585.0025	C2363142 T-cell prolymphocytic leukemia;
NM_000051.4(ATM):c.5309C>A (p.Ser1770Ter)	472	ATM	Likely benign	121434223	RCV000988693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172506	108172506	11:g.108172506C>A	-
NM_000051.4(ATM):c.5310A>G (p.Ser1770=)	472	ATM	Likely benign	1060504282	RCV000476371\|RCV000561273\|RCV001193038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108172507	108172507	NC_000011.9:g.108172507A>G	ClinGen:CA16613446	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5312G>A (p.Arg1771Lys)	472	ATM	Uncertain significance	1416930012	RCV000988694;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172509	108172509	11:g.108172509G>A	-
NM_000051.4(ATM):c.5318dup (p.Phe1774fs)	472	ATM	Pathogenic	876660289	RCV001067663\|RCV003363097;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172509	108172510	11:g.108172509_108172510insA	-
NM_000051.4(ATM):c.5318del (p.Lys1773fs)	472	ATM	Pathogenic/Likely pathogenic	876660289	RCV000217025\|RCV000817912\|RCV003469068;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172510	108172510	NC_000011.9:g.108172515del	ClinGen:CA10579176	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5314A>T (p.Lys1772Ter)	472	ATM	Pathogenic	-1	RCV002852405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172511	108172511	NC_000011.9:g.108172511A>T	-
NM_000051.4(ATM):c.5315A>C (p.Lys1772Thr)	472	ATM	Uncertain significance	-1	RCV003054919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172512	108172512	NC_000011.9:g.108172512A>C	-
NM_000051.4(ATM):c.5318A>G (p.Lys1773Arg)	472	ATM	Uncertain significance	2135915965	RCV001892276;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172515	108172515	108172515	-
NM_000051.4(ATM):c.5319G>C (p.Lys1773Asn)	472	ATM	Uncertain significance	2083446824	RCV001754790\|RCV001868433;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172516	108172516	108172516	-
NM_000051.4(ATM):c.5319+1del	472	ATM	Likely pathogenic	2135916021	RCV002006918;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172516	108172516	108172515	-
NM_000051.4(ATM):c.5319+1G>A	472	ATM	Likely pathogenic	876660175	RCV000214126\|RCV002519724;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172517	108172517	11:g.108172517G>A	ClinGen:CA10579177	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5319+1G>T	472	ATM	Likely pathogenic	876660175	RCV000411373\|RCV003372697;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172517	108172517	NC_000011.9:g.108172517G>T	ClinGen:CA16041415	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5319+2T>C	472	ATM	Pathogenic/Likely pathogenic	1555105842	RCV000565533\|RCV000801687\|RCV002060383\|RCV003155950;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108172518	108172518	NC_000011.9:g.108172518T>C	ClinGen:CA382542858	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5319+2T>G	472	ATM	Likely pathogenic	1555105842	RCV002041426;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172518	108172518	108172518	-
NM_000051.4(ATM):c.5319+3C>A	472	ATM	Conflicting interpretations of pathogenicity	371640963	RCV000222959\|RCV000628003\|RCV000838632\|RCV003401141;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|	11	108172519	108172519	11:g.108172519C>A	ClinGen:CA6265670	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5319+3C>T	472	ATM	Uncertain significance	371640963	RCV000564646\|RCV000824089\|RCV001547819;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108172519	108172519	NC_000011.9:g.108172519C>T	ClinGen:CA658656249	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5319+3_5319+5del	472	ATM	Uncertain significance	-1	RCV003084248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172519	108172521	NC_000011.9:g.108172519_108172521del	-
NM_000051.4(ATM):c.5319+4T>C	472	ATM	Uncertain significance	1170957197	RCV000568219\|RCV001858159;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172520	108172520	NC_000011.9:g.108172520T>C	ClinGen:CA658656250	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5319+4T>A	472	ATM	Conflicting interpretations of pathogenicity	1170957197	RCV001023912\|RCV001038793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172520	108172520	11:g.108172520T>A	-
NM_000051.4(ATM):c.5319+5C>T	472	ATM	Uncertain significance	1565477462	RCV001182891\|RCV001322835;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172521	108172521	11:g.108172521C>T	-
NM_000051.4(ATM):c.5319+6_5319+7dup	472	ATM	Likely benign	2083447804	RCV001421825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172521	108172522	108172521	-
NM_000051.4(ATM):c.5319+6_5319+7del	472	ATM	Conflicting interpretations of pathogenicity	777478613	RCV000228041\|RCV000485197\|RCV000771466\|RCV003321558;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108172522	108172523	NC_000011.9:g.108172522_108172523del	ClinGen:CA6265671	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5319+7T>A	472	ATM	Conflicting interpretations of pathogenicity	925428128	RCV000579917\|RCV000628276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172523	108172523	NC_000011.9:g.108172523T>A	ClinGen:CA228387683	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5319+7T>C	472	ATM	Likely benign	925428128	RCV001426661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172523	108172523	108172523	-
NM_000051.4(ATM):c.5319+8A>G	472	ATM	Likely benign	375051697	RCV000467409\|RCV000771459;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108172524	108172524	NC_000011.9:g.108172524A>G	ClinGen:CA6265673	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5319+9_5319+11delinsTTC	472	ATM	Likely benign	2135916413	RCV001461965;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172525	108172527	108172525	-
NM_000051.4(ATM):c.5319+12_5319+55dup	472	ATM	Likely benign	-1	RCV002889405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172525	108172526	NC_000011.9:g.108172528_108172571dup	-
NM_000051.4(ATM):c.5319+14T>C	472	ATM	Likely benign	-1	RCV003023372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172530	108172530	NC_000011.9:g.108172530T>C	-
NM_000051.4(ATM):c.5319+15A>G	472	ATM	Likely benign	2135916591	RCV002083390;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172531	108172531	108172531	-
NM_000051.4(ATM):c.5319+15A>C	472	ATM	Likely benign	2135916591	RCV002105281;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172531	108172531	108172531	-
NM_000051.4(ATM):c.5319+17A>G	472	ATM	Likely benign	1331649240	RCV001177655\|RCV002068202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172533	108172533	11:g.108172533A>G	-
NM_000051.4(ATM):c.5319+20T>C	472	ATM	Likely benign	775616416	RCV000583477\|RCV002060611;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172536	108172536	11:g.108172536T>C	ClinGen:CA6265676	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5319+22del	472	ATM	Likely benign	2135916722	RCV002134498;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108172536	108172536	108172535	-
NM_000051.4(ATM):c.5320-20T>C	472	ATM	Likely benign	2135926264	RCV002137789;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173560	108173560	108173560	-
NM_000051.4(ATM):c.5320-20T>G	472	ATM	Likely benign	-1	RCV003003168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173560	108173560	NC_000011.9:g.108173560T>G	-
NM_000051.4(ATM):c.5320-19del	472	ATM	Likely benign	-1	RCV002899143;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173561	108173561	NC_000011.9:g.108173561del	-
NM_000051.4(ATM):c.5320-13C>T	472	ATM	Likely benign	1565478723	RCV000777472\|RCV003117568;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173567	108173567	NC_000011.9:g.108173567C>T	-
NM_000051.4(ATM):c.5320-6_5320-3del	472	ATM	Likely benign	864622386	RCV000205563\|RCV000771291;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173568	108173571	11:g.108173568_108173571del	ClinGen:CA349708	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5320-10T>C	472	ATM	Conflicting interpretations of pathogenicity	864622731	RCV000206328\|RCV000439365\|RCV000777916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173570	108173570	NC_000011.9:g.108173570T>C	ClinGen:CA350374	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108173570)_(108175589_?)del	472	ATM	Pathogenic	-1	RCV001881530;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173570	108175589	-1	-
NM_000051.4(ATM):c.5320-10T>G	472	ATM	Likely benign	-1	RCV002819180;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173570	108173570	NC_000011.9:g.108173570T>G	-
NM_000051.4(ATM):c.5320-7T>G	472	ATM	Likely benign	863224292	RCV001412123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173573	108173573	11:g.108173573T>G	ClinGen:CA337377	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5320-4_5323del	472	ATM	Likely pathogenic	1057516540	RCV000409046;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173573	108173580	NC_000011.9:g.108173576_108173583del	ClinGen:CA16041416	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5320-5_5320-2del	472	ATM	Pathogenic/Likely pathogenic	730881310	RCV000159640\|RCV000232019\|RCV003467219;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173575	108173578	NC_000011.9:g.108173575_108173578del	ClinGen:CA298027	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5320-5T>C	472	ATM	Conflicting interpretations of pathogenicity	1555106308	RCV000564882\|RCV000939079;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173575	108173575	11:g.108173575T>C	ClinGen:CA658656252	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5320-4C>G	472	ATM	Likely benign	1316146972	RCV000581308\|RCV001400166;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173576	108173576	NC_000011.9:g.108173576C>G	ClinGen:CA602132836	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5320-3T>C	472	ATM	Uncertain significance	1346691984	RCV001066680\|RCV002348464;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173577	108173577	11:g.108173577T>C	-
NM_000051.4(ATM):c.5320-2A>C	472	ATM	Likely pathogenic	1400417135	RCV002042834;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173578	108173578	108173578	-
NM_000051.4(ATM):c.5320-1G>C	472	ATM	Likely pathogenic	2135926774	RCV001376827;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173579	108173579	108173579	-
NM_000051.4(ATM):c.5324del (p.Phe1774_Leu1775insTer)	472	ATM	Pathogenic	2083496327	RCV001038097;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173580	108173580	11:g.108173580_108173580del	-
NM_000051.4(ATM):c.5321T>A (p.Phe1774Tyr)	472	ATM	Uncertain significance	-1	RCV002299310;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173581	108173581	108173581	-
NM_000051.4(ATM):c.5323T>G (p.Leu1775Val)	472	ATM	Uncertain significance	768820804	RCV000548528\|RCV000573724\|RCV002060287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108173583	108173583	NC_000011.9:g.108173583T>G	ClinGen:CA228388283	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5324T>C (p.Leu1775Ser)	472	ATM	Uncertain significance	1256064321	RCV000580309\|RCV001243455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173584	108173584	NC_000011.9:g.108173584T>C	ClinGen:CA382543019	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5326G>A (p.Glu1776Lys)	472	ATM	Uncertain significance	1555106321	RCV000561302\|RCV000799502;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173586	108173586	NC_000011.9:g.108173586G>A	ClinGen:CA382543034	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5326G>T (p.Glu1776Ter)	472	ATM	Pathogenic/Likely pathogenic	1555106321	RCV000564720\|RCV000657611\|RCV001218574\|RCV002497210;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108173586	108173586	NC_000011.9:g.108173586G>T	ClinGen:CA382543040	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5327A>T (p.Glu1776Val)	472	ATM	Uncertain significance	2083497029	RCV001061482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173587	108173587	11:g.108173587A>T	-
NM_000051.4(ATM):c.5329G>A (p.Val1777Ile)	472	ATM	Uncertain significance	1064794192	RCV000485627\|RCV000582760\|RCV000628045\|RCV003230516;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108173589	108173589	11:g.108173589G>A	ClinGen:CA16619197	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5331A>G (p.Val1777=)	472	ATM	Likely benign	-1	RCV002346842\|RCV003096697;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173591	108173591		-
NM_000051.4(ATM):c.5332C>T (p.Pro1778Ser)	472	ATM	Uncertain significance	1279041730	RCV000685648\|RCV002255504;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173592	108173592	NC_000011.9:g.108173592C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5335A>G (p.Arg1779Gly)	472	ATM	Uncertain significance	1176642734	RCV000794405\|RCV003279068;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173595	108173595	11:g.108173595A>G	-
NM_000051.4(ATM):c.5336G>A (p.Arg1779Lys)	472	ATM	Uncertain significance	-1	RCV003045072;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173596	108173596	NC_000011.9:g.108173596G>A	-
NM_000051.4(ATM):c.5337A>T (p.Arg1779Ser)	472	ATM	Uncertain significance	369351803	RCV000628028\|RCV001805228;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173597	108173597	NC_000011.9:g.108173597A>T	ClinGen:CA6265692	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5339T>G (p.Phe1780Cys)	472	ATM	Uncertain significance	2083497990	RCV001235416\|RCV003230649;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331	11	108173599	108173599	11:g.108173599T>G	-
NM_000051.4(ATM):c.5339T>A (p.Phe1780Tyr)	472	ATM	Uncertain significance	2083497990	RCV002004678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173599	108173599	108173599	-
NM_000051.4(ATM):c.5346dup (p.Glu1783fs)	472	ATM	Pathogenic	2135927478	RCV001904494\|RCV002343905;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173603	108173604	108173603	-
NM_000051.4(ATM):c.5344A>G (p.Lys1782Glu)	472	ATM	Uncertain significance	1591712154	RCV001023955\|RCV001862277;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173604	108173604	11:g.108173604A>G	-
NM_000051.4(ATM):c.5347_5350del (p.Glu1783fs)	472	ATM	Pathogenic	2135927504	RCV001389052\|RCV003321836\|RCV003469751;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173604	108173607	108173603	-
NM_000051.4(ATM):c.5345A>G (p.Lys1782Arg)	472	ATM	Uncertain significance	878853520	RCV000233747\|RCV001023957;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173605	108173605	NC_000011.9:g.108173605A>G	ClinGen:CA10582828	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5347_5348dup (p.Asn1784fs)	472	ATM	Pathogenic	-1	RCV002867163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173605	108173606	NC_000011.9:g.108173607_108173608dup	-
NM_000051.4(ATM):c.5346A>C (p.Lys1782Asn)	472	ATM	Uncertain significance	1555106345	RCV000627921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173606	108173606	11:g.108173606A>C	ClinGen:CA382543196	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5347G>A (p.Glu1783Lys)	472	ATM	Uncertain significance	2083498434	RCV001351764;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173607	108173607	108173607	-
NM_000051.4(ATM):c.5351del (p.Asn1784fs)	472	ATM	Pathogenic/Likely pathogenic	1057517101	RCV000412434;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173608	108173608	NC_000011.9:g.108173611del	ClinGen:CA16041417	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5349A>G (p.Glu1783=)	472	ATM	Likely benign	1555106353	RCV000567962\|RCV001481158;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173609	108173609	NC_000011.9:g.108173609A>G	ClinGen:CA476674896	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5352C>T (p.Asn1784=)	472	ATM	Conflicting interpretations of pathogenicity	140641762	RCV000162510\|RCV000732576\|RCV000988695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173612	108173612	11:g.108173612C>T	ClinGen:CA186379	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5352_5355del (p.Pro1785fs)	472	ATM	Pathogenic/Likely pathogenic	1214541502	RCV000810579\|RCV003166295\|RCV003467441;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173612	108173615	11:g.108173612_108173615del	-
NM_000051.4(ATM):c.5353C>G (p.Pro1785Ala)	472	ATM	Uncertain significance	587779848	RCV000115212\|RCV001066748\|RCV001181368;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173613	108173613	NC_000011.9:g.108173613C>G	ClinGen:CA286891	CN517202 not provided;
NM_000051.4(ATM):c.5354C>A (p.Pro1785His)	472	ATM	Conflicting interpretations of pathogenicity	1555106368	RCV000628117;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173614	108173614	11:g.108173614C>A	ClinGen:CA382543281	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5355T>G (p.Pro1785=)	472	ATM	Likely benign	1025083720	RCV000628315\|RCV000776744;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173615	108173615	NC_000011.9:g.108173615T>G	ClinGen:CA228388321	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5357T>C (p.Phe1786Ser)	472	ATM	Uncertain significance	1555106375	RCV000506669\|RCV000560983\|RCV001308385;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173617	108173617	NC_000011.9:g.108173617T>C	ClinGen:CA382543300	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5362G>A (p.Gly1788Ser)	472	ATM	Uncertain significance	730881373	RCV000159732\|RCV000223069\|RCV000542658\|RCV001193637;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108173622	108173622	NC_000011.9:g.108173622G>A	ClinGen:CA298269	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5363G>T (p.Gly1788Val)	472	ATM	Uncertain significance	2135927977	RCV001892334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173623	108173623	108173623	-
NM_000051.4(ATM):c.5364C>T (p.Gly1788=)	472	ATM	Likely benign	780134093	RCV000219528\|RCV001327587;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173624	108173624	11:g.108173624C>T	ClinGen:CA6265693	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5365C>T (p.Leu1789=)	472	ATM	Likely benign	2135928017	RCV002202079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173625	108173625	108173625	-
NM_000051.4(ATM):c.5368G>C (p.Asp1790His)	472	ATM	Uncertain significance	876658890	RCV001296000\|RCV002350519;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173628	108173628	108173628	-
NM_000051.4(ATM):c.5369A>T (p.Asp1790Val)	472	ATM	Uncertain significance	746945284	RCV000574069\|RCV000627950\|RCV003321675;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108173629	108173629	NC_000011.9:g.108173629A>T	ClinGen:CA382543413	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5369A>G (p.Asp1790Gly)	472	ATM	Uncertain significance	746945284	RCV000777917\|RCV000816697\|RCV001759468\|RCV003465705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173629	108173629	NC_000011.9:g.108173629A>G	-
NM_000051.4(ATM):c.5374A>G (p.Ile1792Val)	472	ATM	Uncertain significance	1555106405	RCV000570701\|RCV002527967;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173634	108173634	NC_000011.9:g.108173634A>G	ClinGen:CA382543468	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5375T>C (p.Ile1792Thr)	472	ATM	Conflicting interpretations of pathogenicity	776309355	RCV000206668\|RCV000566874\|RCV001354647\|RCV002288821;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173635	108173635	11:g.108173635T>C	ClinGen:CA350670	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5375T>G (p.Ile1792Arg)	472	ATM	Uncertain significance	776309355	RCV000807198;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173635	108173635	11:g.108173635T>G	-
NM_000051.4(ATM):c.5376A>T (p.Ile1792=)	472	ATM	Likely benign	1287734608	RCV000562720\|RCV002526820;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173636	108173636	NC_000011.9:g.108173636A>T	ClinGen:CA476674919	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5376A>G (p.Ile1792Met)	472	ATM	Uncertain significance	1287734608	RCV001368757\|RCV003284281;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173636	108173636	108173636	-
NM_000051.4(ATM):c.5377A>C (p.Asn1793His)	472	ATM	Uncertain significance	730881374	RCV000159733\|RCV001850250;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173637	108173637	NC_000011.9:g.108173637A>C	ClinGen:CA298272	CN517202 not provided;
NM_000051.4(ATM):c.5380C>G (p.Leu1794Val)	472	ATM	Uncertain significance	1591712398	RCV001024009\|RCV001324515;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173640	108173640	11:g.108173640C>G	-
NM_000051.4(ATM):c.5380C>A (p.Leu1794Met)	472	ATM	Uncertain significance	-1	RCV002347136\|RCV003096715;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173640	108173640	108173640	-
NM_000051.4(ATM):c.5383_5384del (p.Trp1795fs)	472	ATM	Pathogenic	1474055596	RCV001382801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173641	108173642	108173640	-
NM_000051.4(ATM):c.5382G>A (p.Leu1794=)	472	ATM	Likely benign	188362115	RCV000628238\|RCV001024011;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173642	108173642	11:g.108173642G>A	ClinGen:CA476674926	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5386A>G (p.Ile1796Val)	472	ATM	Uncertain significance	-1	RCV002795583;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173646	108173646	NC_000011.9:g.108173646A>G	-
NM_000051.4(ATM):c.5390C>T (p.Pro1797Leu)	472	ATM	Uncertain significance	2135928610	RCV001949047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173650	108173650	108173650	-
NM_000051.4(ATM):c.5392C>G (p.Leu1798Val)	472	ATM	Uncertain significance	879254274	RCV000236123\|RCV000561614\|RCV001857817;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173652	108173652	NC_000011.9:g.108173652C>G	ClinGen:CA10584347	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5395dup (p.Ser1799fs)	472	ATM	Pathogenic	1591712447	RCV000806004;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173653	108173654	11:g.108173653_108173654insA	-
NM_000051.4(ATM):c.5394A>G (p.Leu1798=)	472	ATM	Likely benign	2135928681	RCV001481579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173654	108173654	108173654	-
NM_000051.4(ATM):c.5395A>G (p.Ser1799Gly)	472	ATM	Uncertain significance	2083501896	RCV001338891\|RCV003469565;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173655	108173655	108173655	-
NM_000051.4(ATM):c.5396del (p.Ser1799fs)	472	ATM	Pathogenic	587782812	RCV000132379\|RCV000486824\|RCV001054078\|RCV003467193;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173656	108173656	11:g.108173656_108173656del	ClinGen:CA169727	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5402del (p.Asn1801fs)	472	ATM	Pathogenic	1555106438	RCV001388669;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173659	108173659	108173658	-
NM_000051.4(ATM):c.5400A>C (p.Glu1800Asp)	472	ATM	Uncertain significance	2135928904	RCV001952596\|RCV003167336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173660	108173660	108173660	-
NM_000051.4(ATM):c.5401A>T (p.Asn1801Tyr)	472	ATM	Uncertain significance	2083502328	RCV001301141\|RCV002350544;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173661	108173661	108173661	-
NM_000051.4(ATM):c.5402A>G (p.Asn1801Ser)	472	ATM	Uncertain significance	1555106445	RCV000627973\|RCV001024041\|RCV001355769\|RCV003235316;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108173662	108173662	11:g.108173662A>G	ClinGen:CA382543745	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5405dup (p.His1802fs)	472	ATM	Pathogenic	1555106452	RCV000539153\|RCV000776817;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173664	108173665	11:g.108173664_108173665insA	ClinGen:CA658656255	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5404C>T (p.His1802Tyr)	472	ATM	Uncertain significance	2083502587	RCV001183193\|RCV001341538;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173664	108173664	11:g.108173664C>T	-
NM_000051.4(ATM):c.5405A>G (p.His1802Arg)	472	ATM	Uncertain significance	878853521	RCV000228710\|RCV001189492\|RCV003318565;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108173665	108173665	11:g.108173665A>G	ClinGen:CA10582829	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5405A>T (p.His1802Leu)	472	ATM	Uncertain significance	878853521	RCV001024047\|RCV001051841\|RCV001785768\|RCV003467680;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173665	108173665	11:g.108173665A>T	-
NM_000051.4(ATM):c.5407G>C (p.Asp1803His)	472	ATM	Uncertain significance	2083502901	RCV001323288;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173667	108173667	108173667	-
NM_000051.4(ATM):c.5408A>T (p.Asp1803Val)	472	ATM	Uncertain significance	2135929138	RCV001986393;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173668	108173668	108173668	-
NM_000051.4(ATM):c.5409C>T (p.Asp1803=)	472	ATM	Likely benign	1555106462	RCV000556012\|RCV001024057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173669	108173669	11:g.108173669C>T	ClinGen:CA476674955	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe)	472	ATM	Uncertain significance	769872474	RCV000205064\|RCV000570407\|RCV001785516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108173670	108173670	11:g.108173670A>T	ClinGen:CA349227	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5414G>A (p.Trp1805Ter)	472	ATM	Pathogenic/Likely pathogenic	879254171	RCV000235544\|RCV000674524\|RCV001182325;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173674	108173674	NC_000011.9:g.108173674G>A	ClinGen:CA10584348	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5416A>G (p.Ile1806Val)	472	ATM	Uncertain significance	-1	RCV002349444\|RCV003102728;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173676	108173676	108173676	-
NM_000051.4(ATM):c.5417T>C (p.Ile1806Thr)	472	ATM	Conflicting interpretations of pathogenicity	773546064	RCV000166025\|RCV000232405\|RCV001571325\|RCV003462197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173677	108173677	11:g.108173677T>C	ClinGen:CA194797	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5418A>G (p.Ile1806Met)	472	ATM	Uncertain significance	763020528	RCV000532167\|RCV000566476\|RCV001572655\|RCV001844187\|RCV003419917;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|	11	108173678	108173678	NC_000011.9:g.108173678A>G	ClinGen:CA6265697	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5419A>G (p.Lys1807Glu)	472	ATM	Uncertain significance	1591712583	RCV001362558\|RCV002499733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173679	108173679	108173679	-
NM_000051.4(ATM):c.5424_5429del (p.Leu1809_Thr1810del)	472	ATM	Uncertain significance	2083503966	RCV001326153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173681	108173686	108173680	-
NM_000051.4(ATM):c.5426T>A (p.Leu1809Gln)	472	ATM	Uncertain significance	2083504168	RCV001300788;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173686	108173686	108173686	-
NM_000051.4(ATM):c.5426T>C (p.Leu1809Pro)	472	ATM	Uncertain significance	2083504168	RCV001804598\|RCV002300592;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173686	108173686	108173686	-
NM_000051.4(ATM):c.5428A>G (p.Thr1810Ala)	472	ATM	Uncertain significance	876659748	RCV000218730\|RCV001348232;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173688	108173688	11:g.108173688A>G	ClinGen:CA10579180	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5428A>T (p.Thr1810Ser)	472	ATM	Uncertain significance	876659748	RCV000628062;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173688	108173688	11:g.108173688A>T	ClinGen:CA382543988	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5429C>T (p.Thr1810Ile)	472	ATM	Uncertain significance	1565479223	RCV000690712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173689	108173689	11:g.108173689C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5430T>G (p.Thr1810=)	472	ATM	Likely benign	1057522229	RCV000433828\|RCV002521746;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173690	108173690	11:g.108173690T>G	ClinGen:CA16606094	CN169374 not specified;
NM_000051.4(ATM):c.5430_5431del (p.Ala1812fs)	472	ATM	Pathogenic	2135929688	RCV001953244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173690	108173691	108173689	-
NM_000051.4(ATM):c.5432G>C (p.Cys1811Ser)	472	ATM	Uncertain significance	149569091	RCV000488329\|RCV000698483\|RCV002350081;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173692	108173692	11:g.108173692G>C	ClinGen:CA16621628	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5433T>A (p.Cys1811Ter)	472	ATM	Likely pathogenic	1555106493	RCV000674312;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173693	108173693	11:g.108173693T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5435C>T (p.Ala1812Val)	472	ATM	Uncertain significance	199885813	RCV000222750\|RCV000674622\|RCV001030596;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108173695	108173695	11:g.108173695C>T	ClinGen:CA10579181	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5441dup (p.Leu1814fs)	472	ATM	Pathogenic	1555106508	RCV000564879\|RCV001858237;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173695	108173696	11:g.108173695_108173696insT	ClinGen:CA658656256	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5436T>G (p.Ala1812=)	472	ATM	Likely benign	1555106502	RCV000628214\|RCV001024100;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173696	108173696	NC_000011.9:g.108173696T>G	ClinGen:CA476674988	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5436T>C (p.Ala1812=)	472	ATM	Likely benign	1555106502	RCV001399036;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173696	108173696	108173696	-
NM_000051.4(ATM):c.5441T>G (p.Leu1814Trp)	472	ATM	Uncertain significance	2083505270	RCV001067588;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173701	108173701	11:g.108173701T>G	-
NM_000051.4(ATM):c.5443del (p.Asp1815fs)	472	ATM	Pathogenic	878853522	RCV000226250\|RCV001357161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0002032,MedGen:C0699790	11	108173702	108173702	NC_000011.9:g.108173703del	ClinGen:CA6265698	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5442G>A (p.Leu1814=)	472	ATM	Conflicting interpretations of pathogenicity	2083505400	RCV001295538\|RCV002350514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173702	108173702	108173702	-
NM_000051.4(ATM):c.5443G>A (p.Asp1815Asn)	472	ATM	Uncertain significance	933604666	RCV000544492\|RCV002350158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173703	108173703	NC_000011.9:g.108173703G>A	ClinGen:CA228388428	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5445C>G (p.Asp1815Glu)	472	ATM	Uncertain significance	1555106518	RCV000557051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173705	108173705	11:g.108173705C>G	ClinGen:CA382544186	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5445C>A (p.Asp1815Glu)	472	ATM	Uncertain significance	-1	RCV003040057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173705	108173705	NC_000011.9:g.108173705C>A	-
NM_000051.4(ATM):c.5447G>C (p.Ser1816Thr)	472	ATM	Uncertain significance	2135930154	RCV002015366\|RCV002346263;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173707	108173707	108173707	-
NM_000051.4(ATM):c.5448T>C (p.Ser1816=)	472	ATM	Likely benign	766455425	RCV000569799\|RCV000628309;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173708	108173708	NC_000011.9:g.108173708T>C	ClinGen:CA6265699	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5450G>A (p.Gly1817Glu)	472	ATM	Conflicting interpretations of pathogenicity	2083506323	RCV001243102\|RCV001760273;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202	11	108173710	108173710	11:g.108173710G>A	-
NM_000051.4(ATM):c.5452G>A (p.Gly1818Ser)	472	ATM	Uncertain significance	774784546	RCV001918755;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173712	108173712	108173712	-
NM_000051.4(ATM):c.5453_5454delinsAA (p.Gly1818Glu)	472	ATM	Uncertain significance	1555106531	RCV000531799;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173713	108173714	NC_000011.9:g.108173713_108173714delinsAA	ClinGen:CA658656257	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5456C>T (p.Thr1819Ile)	472	ATM	Conflicting interpretations of pathogenicity	760060843	RCV000219062\|RCV000485146\|RCV000544430\|RCV001818530;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108173716	108173716	11:g.108173716C>T	ClinGen:CA6265701	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5460dup (p.Cys1821fs)	472	ATM	Pathogenic/Likely pathogenic	1057516760	RCV000411104;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173716	108173717	NC_000011.9:g.108173720dup	ClinGen:CA16041418	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5457A>G (p.Thr1819=)	472	ATM	Likely benign	1555106535	RCV000567286\|RCV001493666;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173717	108173717	NC_000011.9:g.108173717A>G	ClinGen:CA476675008	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5459A>C (p.Lys1820Thr)	472	ATM	Uncertain significance	983664978	RCV000571509\|RCV000706129\|RCV000780887;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108173719	108173719	NC_000011.9:g.108173719A>C	ClinGen:CA382544290	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5461T>C (p.Cys1821Arg)	472	ATM	Uncertain significance	562930561	RCV001223643\|RCV002348750\|RCV002466638;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108173721	108173721	11:g.108173721T>C	-
NM_000051.4(ATM):c.5461T>G (p.Cys1821Gly)	472	ATM	Uncertain significance	-1	RCV003028354;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173721	108173721	NC_000011.9:g.108173721T>G	-
NM_000051.4(ATM):c.5462G>T (p.Cys1821Phe)	472	ATM	Uncertain significance	1565479431	RCV000709185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173722	108173722	NC_000011.9:g.108173722G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5462G>A (p.Cys1821Tyr)	472	ATM	Uncertain significance	1565479431	RCV001323015\|RCV003166887;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173722	108173722	108173722	-
NM_000051.4(ATM):c.5464G>A (p.Glu1822Lys)	472	ATM	Uncertain significance	1591712872	RCV000808061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173724	108173724	11:g.108173724G>A	-
NM_000051.4(ATM):c.5465A>C (p.Glu1822Ala)	472	ATM	Uncertain significance	2135930592	RCV002040127;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173725	108173725	108173725	-
NM_000051.4(ATM):c.5469_5470delinsAT (p.Leu1824Phe)	472	ATM	Uncertain significance	2083508049	RCV001205855;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173729	108173730	NC_000011.9:g.108173729_108173730delinsAT	-
NM_000051.4(ATM):c.5470C>T (p.Leu1824Phe)	472	ATM	Uncertain significance	764784077	RCV000469808\|RCV000679129\|RCV000771874\|RCV003114582\|RCV003470438;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173730	108173730	NC_000011.9:g.108173730C>T	ClinGen:CA6265706	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5471T>C (p.Leu1824Pro)	472	ATM	Uncertain significance	1565479465	RCV000707052;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173731	108173731	11:g.108173731T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5471T>G (p.Leu1824Arg)	472	ATM	Uncertain significance	1565479465	RCV001989818\|RCV002344112\|RCV003237361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173731	108173731	108173731	-
NM_000051.4(ATM):c.5472T>A (p.Leu1824=)	472	ATM	Likely benign	2135930756	RCV001439779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173732	108173732	108173732	-
NM_000051.4(ATM):c.5473C>A (p.Gln1825Lys)	472	ATM	Uncertain significance	1555106553	RCV000572156\|RCV001858170\|RCV002476222\|RCV003465194;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108173733	108173733	NC_000011.9:g.108173733C>A	ClinGen:CA382544397	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5473C>T (p.Gln1825Ter)	472	ATM	Pathogenic	1555106553	RCV001232766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173733	108173733	11:g.108173733C>T	-
NM_000051.4(ATM):c.5474A>C (p.Gln1825Pro)	472	ATM	Uncertain significance	587782655	RCV000132070\|RCV000556681;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173734	108173734	11:g.108173734A>C	ClinGen:CA169193	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5475A>G (p.Gln1825=)	472	ATM	Likely benign	1555106560	RCV000537402\|RCV000584202;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173735	108173735	NC_000011.9:g.108173735A>G	ClinGen:CA476675018	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5475A>T (p.Gln1825His)	472	ATM	Uncertain significance	-1	RCV002839570;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173735	108173735	NC_000011.9:g.108173735A>T	-
NM_000051.4(ATM):c.5476T>C (p.Leu1826=)	472	ATM	Likely benign	1555106563	RCV000549751\|RCV001358757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108173736	108173736	11:g.108173736T>C	ClinGen:CA476675019	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5476T>G (p.Leu1826Val)	472	ATM	Uncertain significance	1555106563	RCV000699554\|RCV002343515;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173736	108173736	NC_000011.9:g.108173736T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5479T>C (p.Leu1827=)	472	ATM	Likely benign	2135930931	RCV001454407;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173739	108173739	108173739	-
NM_000051.4(ATM):c.5481A>G (p.Leu1827=)	472	ATM	Likely benign	2135930953	RCV002212093;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173741	108173741	108173741	-
NM_000051.4(ATM):c.5482A>C (p.Lys1828Gln)	472	ATM	Uncertain significance	2083509111	RCV001352615\|RCV001569777\|RCV002350667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173742	108173742	108173742	-
NM_000051.4(ATM):c.5488A>G (p.Met1830Val)	472	ATM	Conflicting interpretations of pathogenicity	587781622	RCV000129712\|RCV000199250\|RCV000590655\|RCV001030597\|RCV001357265\|RCV002307401\|RCV003430705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015278,MedGen:C2931038, Orphanet:1333	11	108173748	108173748	11:g.108173748A>G	ClinGen:CA164960	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5488A>T (p.Met1830Leu)	472	ATM	Uncertain significance	587781622	RCV001188817\|RCV002298892;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173748	108173748	11:g.108173748A>T	-
NM_000051.4(ATM):c.5489T>C (p.Met1830Thr)	472	ATM	Uncertain significance	145812395	RCV000115213\|RCV000167908\|RCV000212029\|RCV001281031\|RCV001804843\|RCV003390797\|RCV003460806;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108173749	108173749	NC_000011.9:g.108173749T>C	ClinGen:CA286894	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5490G>A (p.Met1830Ile)	472	ATM	Uncertain significance	779720793	RCV000777918\|RCV000801489\|RCV001772037;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108173750	108173750	NC_000011.9:g.108173750G>A	-
NM_000051.4(ATM):c.5492G>A (p.Cys1831Tyr)	472	ATM	Uncertain significance	1555106575	RCV000573711\|RCV001295160;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173752	108173752	NC_000011.9:g.108173752G>A	ClinGen:CA382544511	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5494G>A (p.Glu1832Lys)	472	ATM	Uncertain significance	1591713057	RCV001024172\|RCV001058137;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173754	108173754	11:g.108173754G>A	-
NM_000051.4(ATM):c.5496+2_5496+5del	472	ATM	Likely pathogenic	1565479572	RCV000685410\|RCV001191641\|RCV002485586\|RCV003465555;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MO	11	108173755	108173758	NC_000011.9:g.108173758_108173761del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5496A>G (p.Glu1832=)	472	ATM	Conflicting interpretations of pathogenicity	1591713080	RCV001024173\|RCV001366351;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173756	108173756	11:g.108173756A>G	-
NM_000051.4(ATM):c.5496+1G>A	472	ATM	Likely pathogenic	879254180	RCV000235522\|RCV001071525\|RCV002347927;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173757	108173757	11:g.108173757G>A	ClinGen:CA10584350	CN517202 not provided;
NM_000051.4(ATM):c.5496+2T>G	472	ATM	Likely pathogenic	1591713093	RCV000799380\|RCV002345779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108173758	108173758	11:g.108173758T>G	-
NM_000051.4(ATM):c.5496+2T>A	472	ATM	Likely pathogenic	-1	RCV003029472;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173758	108173758	NC_000011.9:g.108173758T>A	-
NM_000051.4(ATM):c.5496+7_5496+9del	472	ATM	Likely benign	878853523	RCV000230225;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173759	108173761	11:g.108173759_108173761del	ClinGen:CA10582830	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5496+13_5496+16del	472	ATM	Likely benign	1382076363	RCV000776792\|RCV002067343;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173765	108173768	NC_000011.9:g.108173765ATTA[1]	-
NM_000051.4(ATM):c.5496+11T>C	472	ATM	Likely benign	751491395	RCV000417427\|RCV000579944\|RCV001001451;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173767	108173767	11:g.108173767T>C	ClinGen:CA6265709	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5496+14T>G	472	ATM	Likely benign	1172938746	RCV001185832\|RCV002068422;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173770	108173770	11:g.108173770T>G	-
NM_000051.4(ATM):c.5496+18T>G	472	ATM	Likely benign	2135931607	RCV002213048;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173774	108173774	108173774	-
NM_000051.4(ATM):c.5496+19C>T	472	ATM	Likely benign	-1	RCV002625041;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108173775	108173775	NC_000011.9:g.108173775C>T	-
NM_000051.4(ATM):c.5496+645T>G	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002351564\|RCV003096767;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108174401	108174401	108174401	-
NM_000051.4(ATM):c.5497-19A>G	472	ATM	Likely benign	1555107231	RCV000581624\|RCV001853898;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175383	108175383	11:g.108175383A>G	ClinGen:CA658683124	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5497-18T>G	472	ATM	Likely benign	2135942080	RCV002145170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175384	108175384	108175384	-
NM_000051.4(ATM):c.5497-13_5497-10del	472	ATM	Likely benign	-1	RCV002884994;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175384	108175387	NC_000011.9:g.108175385TTGT[1]	-
NM_000051.4(ATM):c.5497-15G>C	472	ATM	Conflicting interpretations of pathogenicity	3092828	RCV000123750\|RCV000447093\|RCV001103816\|RCV001358583\|RCV001689673\|RCV002225399\|RCV003149850\|RCV003315838;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108175387	108175387	11:g.108175387G>C	ClinGen:CA289575	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5497-15G>A	472	ATM	Likely benign	3092828	RCV002138595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175387	108175387	108175387	-
NM_000051.4(ATM):c.5497-11G>T	472	ATM	Likely benign	2135942166	RCV002156678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175391	108175391	108175391	-
NM_000051.4(ATM):c.5497-10T>C	472	ATM	Conflicting interpretations of pathogenicity	1457831101	RCV001190539\|RCV001876228;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175392	108175392	11:g.108175392T>C	-
NM_000051.4(ATM):c.5497-9A>G	472	ATM	Likely benign	878853524	RCV000231683\|RCV000418050;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108175393	108175393	NC_000011.9:g.108175393A>G	ClinGen:CA10582831	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5497-8T>C	472	ATM	Benign/Likely benign	3092829	RCV000119146\|RCV000128919\|RCV000246719\|RCV001358036\|RCV001357689\|RCV001705877\|RCV002225348\|RCV003315704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0005494,MedGen:C4722518\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeS	11	108175394	108175394	11:g.108175394T>C	ClinGen:CA163537	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5497-7A>G	472	ATM	Likely benign	2135942246	RCV001441419;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175395	108175395	108175395	-
NM_000051.4(ATM):c.5497-4dup	472	ATM	Uncertain significance	2083589744	RCV001326050;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175397	108175398	108175397	-
NM_000051.4(ATM):c.5497-4C>G	472	ATM	Likely benign	1002998981	RCV000813203;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175398	108175398	11:g.108175398C>G	-
NM_000051.4(ATM):c.5497-3T>C	472	ATM	Uncertain significance	1064795486	RCV000817617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175399	108175399	11:g.108175399T>C	-
NM_000051.4(ATM):c.5497-3T>A	472	ATM	Uncertain significance	1064795486	RCV001042482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175399	108175399	11:g.108175399T>A	-
NM_000051.4(ATM):c.5497-2A>G	472	ATM	Pathogenic/Likely pathogenic	786203796	RCV000167256\|RCV000627890\|RCV003468802;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175400	108175400	11:g.108175400A>G	ClinGen:CA197864	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5497-2A>C	472	ATM	Pathogenic/Likely pathogenic	786203796	RCV000521216\|RCV000557758\|RCV000563654\|RCV001171404;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175400	108175400	11:g.108175400A>C	ClinGen:CA382545605	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5497-1G>A	472	ATM	Pathogenic/Likely pathogenic	876660245	RCV000220437\|RCV000254723\|RCV001853622\|RCV003469067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175401	108175401	11:g.108175401G>A	ClinGen:CA10579182	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5497G>A (p.Val1833Met)	472	ATM	Uncertain significance	2135942364	RCV001961488;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175402	108175402	108175402	-
NM_000051.4(ATM):c.5498T>G (p.Val1833Gly)	472	ATM	Uncertain significance	-1	RCV003093454;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175403	108175403	NC_000011.9:g.108175403T>G	-
NM_000051.4(ATM):c.5499_5509del (p.Lys1834fs)	472	ATM	Pathogenic	-1	RCV003057217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175403	108175413	NC_000011.9:g.108175404_108175414del	-
NM_000051.4(ATM):c.5503A>G (p.Thr1835Ala)	472	ATM	Uncertain significance	1034908940	RCV001294863\|RCV001773599\|RCV002350510;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175408	108175408	108175408	-
NM_000051.4(ATM):c.5504C>G (p.Thr1835Ser)	472	ATM	Uncertain significance	2135942516	RCV001981681;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175409	108175409	108175409	-
NM_000051.4(ATM):c.5506G>A (p.Asp1836Asn)	472	ATM	Uncertain significance	2135942560	RCV001359021;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175411	108175411	108175411	-
NM_000051.4(ATM):c.5506G>C (p.Asp1836His)	472	ATM	Uncertain significance	2135942560	RCV001359638\|RCV002350673;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175411	108175411	108175411	-
NM_000051.4(ATM):c.5507A>T (p.Asp1836Val)	472	ATM	Uncertain significance	1555107256	RCV000628102;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175412	108175412	11:g.108175412A>T	ClinGen:CA382545701	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5508C>T (p.Asp1836=)	472	ATM	Likely benign	2135942603	RCV001473065\|RCV002350968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175413	108175413	108175413	-
NM_000051.4(ATM):c.5509T>G (p.Phe1837Val)	472	ATM	Uncertain significance	876660472	RCV000215343\|RCV000486930\|RCV000533648;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175414	108175414	11:g.108175414T>G	ClinGen:CA10579183	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5511_5512del (p.Phe1837fs)	472	ATM	Pathogenic/Likely pathogenic	1555107263	RCV000550809\|RCV000777221\|RCV001030598\|RCV003159702\|RCV003470674;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013	11	108175414	108175415	NC_000011.9:g.108175416_108175417del	ClinGen:CA658656259	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5512T>C (p.Cys1838Arg)	472	ATM	Uncertain significance	587781390	RCV000129226\|RCV001046782;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175417	108175417	11:g.108175417T>C	ClinGen:CA164000	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5512T>G (p.Cys1838Gly)	472	ATM	Uncertain significance	587781390	RCV000480391\|RCV000566460\|RCV001201482;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175417	108175417	11:g.108175417T>G	ClinGen:CA16619200	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5513G>C (p.Cys1838Ser)	472	ATM	Uncertain significance	-1	RCV002304889;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175418	108175418	108175418	-
NM_000051.4(ATM):c.5515C>T (p.Gln1839Ter)	472	ATM	Pathogenic/Likely pathogenic	786204751	RCV000169605\|RCV000777919\|RCV001310117\|RCV001579826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108175420	108175420	NC_000011.9:g.108175420C>T	ClinGen:CA274462	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5516A>T (p.Gln1839Leu)	472	ATM	Uncertain significance	-1	RCV002304056\|RCV002346585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175421	108175421	108175421	-
NM_000051.4(ATM):c.5521_5522del (p.Val1841fs)	472	ATM	Pathogenic/Likely pathogenic	1555107293	RCV000657370\|RCV002283503;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175425	108175426	11:g.108175425_108175426del	-	CN517202 not provided;
NM_000051.4(ATM):c.5520T>C (p.Thr1840=)	472	ATM	Likely benign	1591717575	RCV001394069;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175425	108175425	11:g.108175425T>C	-
NM_000051.4(ATM):c.5520T>G (p.Thr1840=)	472	ATM	Likely benign	-1	RCV002890893;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175425	108175425		-
NM_000051.4(ATM):c.5521G>A (p.Val1841Ile)	472	ATM	Uncertain significance	1565481593	RCV000691077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175426	108175426	11:g.108175426G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5523A>C (p.Val1841=)	472	ATM	Likely benign	1060504268	RCV000580536\|RCV001414822;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175428	108175428	NC_000011.9:g.108175428A>C	ClinGen:CA16613154	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5523A>G (p.Val1841=)	472	ATM	Likely benign	1060504268	RCV002153148;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175428	108175428	108175428	-
NM_000051.4(ATM):c.5524C>T (p.Leu1842Phe)	472	ATM	Conflicting interpretations of pathogenicity	956546711	RCV000527814\|RCV000563014;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175429	108175429	NC_000011.9:g.108175429C>T	ClinGen:CA228389689	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5524C>A (p.Leu1842Ile)	472	ATM	Uncertain significance	956546711	RCV000811708\|RCV002345845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175429	108175429	11:g.108175429C>A	-
NM_000051.4(ATM):c.5525T>G (p.Leu1842Arg)	472	ATM	Uncertain significance	1060501619	RCV000476188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175430	108175430	NC_000011.9:g.108175430T>G	ClinGen:CA16613160	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5526T>A (p.Leu1842=)	472	ATM	Likely benign	2135942991	RCV002157225;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175431	108175431	108175431	-
NM_000051.4(ATM):c.5527C>G (p.Pro1843Ala)	472	ATM	Uncertain significance	1060501607	RCV000467984\|RCV001024226\|RCV002289609;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175432	108175432	NC_000011.9:g.108175432C>G	ClinGen:CA16613376	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5528C>G (p.Pro1843Arg)	472	ATM	Uncertain significance	764522350	RCV000628005\|RCV002343182;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175433	108175433	NC_000011.9:g.108175433C>G	ClinGen:CA382545845	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5529A>G (p.Pro1843=)	472	ATM	Likely benign	750037588	RCV000214553\|RCV000464889;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175434	108175434	11:g.108175434A>G	ClinGen:CA10579184	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5531A>C (p.Tyr1844Ser)	472	ATM	Uncertain significance	876658907	RCV002011051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175436	108175436	108175436	-
NM_000051.4(ATM):c.5532C>G (p.Tyr1844Ter)	472	ATM	Pathogenic	2135943149	RCV001985141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175437	108175437	108175437	-
NM_000051.4(ATM):c.5536A>G (p.Ile1846Val)	472	ATM	Uncertain significance	587779849	RCV000115214\|RCV001218246\|RCV002345414;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175441	108175441	NC_000011.9:g.108175441A>G	ClinGen:CA286897	CN517202 not provided;
NM_000051.4(ATM):c.5536A>T (p.Ile1846Phe)	472	ATM	Uncertain significance	587779849	RCV001316286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175441	108175441	108175441	-
NM_000051.4(ATM):c.5539C>G (p.His1847Asp)	472	ATM	Uncertain significance	1591717732	RCV001024244\|RCV002298844;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175444	108175444	11:g.108175444C>G	-
NM_000051.4(ATM):c.5540A>G (p.His1847Arg)	472	ATM	Uncertain significance	2083593874	RCV001324513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175445	108175445	108175445	-
NM_000051.4(ATM):c.5541T>C (p.His1847=)	472	ATM	Likely benign	1555107326	RCV000567975\|RCV002060447;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175446	108175446	NC_000011.9:g.108175446T>C	ClinGen:CA476675127	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5542G>C (p.Asp1848His)	472	ATM	Uncertain significance	2135943397	RCV001922235;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175447	108175447	108175447	-
NM_000051.4(ATM):c.5543A>G (p.Asp1848Gly)	472	ATM	Uncertain significance	1555107329	RCV000561120\|RCV001526805\|RCV001764680\|RCV003465256;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175448	108175448	NC_000011.9:g.108175448A>G	ClinGen:CA382545940	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5544T>C (p.Asp1848=)	472	ATM	Likely benign	146568734	RCV000164288\|RCV001494817\|RCV002221502;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175449	108175449	11:g.108175449T>C	ClinGen:CA190548	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5549dup (p.Leu1850fs)	472	ATM	Pathogenic	876658287	RCV001877680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175450	108175451	108175450	-
NM_000051.4(ATM):c.5549del (p.Leu1850fs)	472	ATM	Pathogenic/Likely pathogenic	876658287	RCV000219889\|RCV000236989\|RCV000411540\|RCV003462418;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175451	108175451	11:g.108175451_108175451del	ClinGen:CA6265726	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5549T>A (p.Leu1850Ter)	472	ATM	Pathogenic	878853525	RCV000226649;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175454	108175454	NC_000011.9:g.108175454T>A	ClinGen:CA10582832	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5550A>G (p.Leu1850=)	472	ATM	Benign/Likely benign	35850088	RCV000163712\|RCV000469167\|RCV000615109;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108175455	108175455	11:g.108175455A>G	ClinGen:CA189014	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5551C>G (p.Leu1851Val)	472	ATM	Uncertain significance	200842502	RCV000540410\|RCV000777920;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175456	108175456	11:g.108175456C>G	ClinGen:CA6265728	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5551C>T (p.Leu1851Phe)	472	ATM	Conflicting interpretations of pathogenicity	200842502	RCV000565602\|RCV001231064\|RCV001591332;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108175456	108175456	NC_000011.9:g.108175456C>T	ClinGen:CA6265727	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5554dup (p.Gln1852fs)	472	ATM	Pathogenic	1555107356	RCV000582959\|RCV000628026\|RCV001311787;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108175457	108175458	NC_000011.9:g.108175459dup	ClinGen:CA658683125	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5552T>C (p.Leu1851Pro)	472	ATM	Uncertain significance	2135943595	RCV001916071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175457	108175457	108175457	-
NM_000051.4(ATM):c.5552T>A (p.Leu1851His)	472	ATM	Uncertain significance	2135943595	RCV001963510;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175457	108175457	108175457	-
NM_000051.4(ATM):c.5553C>G (p.Leu1851=)	472	ATM	Likely benign	786201126	RCV000162724\|RCV001409206;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175458	108175458	11:g.108175458C>G	ClinGen:CA186811	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5554C>A (p.Gln1852Lys)	472	ATM	Uncertain significance	754562056	RCV000218844\|RCV000809151\|RCV002288883;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175459	108175459	11:g.108175459C>A	ClinGen:CA10579186	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5554C>T (p.Gln1852Ter)	472	ATM	Pathogenic/Likely pathogenic	754562056	RCV000409717\|RCV002272217\|RCV002348124;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175459	108175459	11:g.108175459C>T	ClinGen:CA6265729	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5556_5557delinsGA (p.Asp1853Asn)	472	ATM	Uncertain significance	2083595502	RCV001194298\|RCV001423192\|RCV002221615\|RCV002348640\|RCV003229020;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108175461	108175462	NC_000011.9:g.108175461_108175462delinsGA	-
NM_000051.4(ATM):c.5557G>A (p.Asp1853Asn)	472	ATM	Benign	1801516	RCV000116427\|RCV000131720\|RCV000316554\|RCV000710673\|RCV002225338\|RCV003315664;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C03461	11	108175462	108175462	11:g.108175462G>A	ClinGen:CA151929,UniProtKB:Q13315#VAR_010833	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5557_5558delinsAG (p.Asp1853Ser)	472	ATM	Uncertain significance	-1	RCV003018816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175462	108175463	NC_000011.9:g.108175462_108175463delinsAG	-
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val)	472	ATM	Conflicting interpretations of pathogenicity	1801673	RCV000120145\|RCV000122859\|RCV000128902\|RCV000513231\|RCV001262813\|RCV001358294\|RCV001798378\|RCV002225361\|RCV003224156;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C000	11	108175463	108175463	11:g.108175463A>T	ClinGen:CA157135,UniProtKB:Q13315#VAR_010834	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5559T>C (p.Asp1853=)	472	ATM	Likely benign	1555107393	RCV000607320\|RCV001486011;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175464	108175464	11:g.108175464T>C	ClinGen:CA476675135	CN169374 not specified;
NM_000051.4(ATM):c.5561C>G (p.Thr1854Arg)	472	ATM	Uncertain significance	138710254	RCV000159734\|RCV000567870\|RCV000796486\|RCV003462074;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175466	108175466	NC_000011.9:g.108175466C>G	ClinGen:CA298275	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5561C>T (p.Thr1854Ile)	472	ATM	Uncertain significance	138710254	RCV000775010\|RCV002534169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175466	108175466	NC_000011.9:g.108175466C>T	-
NM_000051.4(ATM):c.5561del (p.Thr1854fs)	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002466087\|RCV002573581;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175466	108175466	NC_000011.9:g.108175466del	-
NM_000051.4(ATM):c.5564A>G (p.Asn1855Ser)	472	ATM	Uncertain significance	1565481878	RCV000696276\|RCV001024279\|RCV003465597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175469	108175469	NC_000011.9:g.108175469A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5565T>G (p.Asn1855Lys)	472	ATM	Uncertain significance	1565481888	RCV000694184\|RCV002343483;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175470	108175470	NC_000011.9:g.108175470T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5565T>C (p.Asn1855=)	472	ATM	Likely benign	1565481888	RCV001433057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175470	108175470	108175470	-
NM_000051.4(ATM):c.5566G>A (p.Glu1856Lys)	472	ATM	Uncertain significance	1465041573	RCV000561240\|RCV001370825;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175471	108175471	NC_000011.9:g.108175471G>A	ClinGen:CA382546055	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5566G>C (p.Glu1856Gln)	472	ATM	Uncertain significance	1465041573	RCV000807989\|RCV001183899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175471	108175471	11:g.108175471G>C	-
NM_000051.4(ATM):c.5571A>G (p.Ser1857=)	472	ATM	Likely benign	777570286	RCV001024292\|RCV000615179\|RCV001440105;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175476	108175476	11:g.108175476A>G	ClinGen:CA476675143	CN169374 not specified;
NM_000051.4(ATM):c.5571A>T (p.Ser1857=)	472	ATM	Likely benign	777570286	RCV002165509\|RCV002346355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175476	108175476	108175476	-
NM_000051.4(ATM):c.5572T>C (p.Trp1858Arg)	472	ATM	Uncertain significance	2083597320	RCV001179955\|RCV002558927;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175477	108175477	11:g.108175477T>C	-
NM_000051.4(ATM):c.5573G>A (p.Trp1858Ter)	472	ATM	Pathogenic/Likely pathogenic	879254076	RCV000236378\|RCV000628037\|RCV002347925;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175478	108175478	NC_000011.9:g.108175478G>A	ClinGen:CA10584352	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5574G>A (p.Trp1858Ter)	472	ATM	Pathogenic	2135944112	RCV001892183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175479	108175479	108175479	-
NM_000051.4(ATM):c.5576G>T (p.Arg1859Ile)	472	ATM	Uncertain significance	1060501568	RCV000467672\|RCV000567955;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175481	108175481	NC_000011.9:g.108175481G>T	ClinGen:CA16613384	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5576G>A (p.Arg1859Lys)	472	ATM	Uncertain significance	1060501568	RCV000570161\|RCV000709186;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175481	108175481	NC_000011.9:g.108175481G>A	ClinGen:CA382546106	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5580T>A (p.Asn1860Lys)	472	ATM	Uncertain significance	2083598099	RCV001041475;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175485	108175485	11:g.108175485T>A	-
NM_000051.4(ATM):c.5581C>A (p.Leu1861Met)	472	ATM	Uncertain significance	1314298685	RCV001372537;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175486	108175486	108175486	-
NM_000051.4(ATM):c.5583G>A (p.Leu1861=)	472	ATM	Benign/Likely benign	781383087	RCV000214192\|RCV000471280\|RCV001594879\|RCV003150128;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN221562	11	108175488	108175488	11:g.108175488G>A	ClinGen:CA6265731	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5583G>C (p.Leu1861=)	472	ATM	Likely benign	781383087	RCV001497605\|RCV002346129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175488	108175488	11:g.108175488G>C	-
NM_000051.4(ATM):c.5583G>T (p.Leu1861=)	472	ATM	Likely benign	781383087	RCV001185459\|RCV002067965;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175488	108175488	11:g.108175488G>T	-
NM_000051.4(ATM):c.5584C>T (p.Leu1862Phe)	472	ATM	Uncertain significance	149362482	RCV000709187\|RCV002256489;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175489	108175489	11:g.108175489C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5584C>G (p.Leu1862Val)	472	ATM	Uncertain significance	149362482	RCV001043614\|RCV002348363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175489	108175489	11:g.108175489C>G	-
NM_000051.4(ATM):c.5585T>A (p.Leu1862His)	472	ATM	Uncertain significance	1555107424	RCV000566545\|RCV001297261;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175490	108175490	NC_000011.9:g.108175490T>A	ClinGen:CA382546156	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5585T>C (p.Leu1862Pro)	472	ATM	Uncertain significance	1555107424	RCV001069223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175490	108175490	11:g.108175490T>C	-
NM_000051.4(ATM):c.5586T>G (p.Leu1862=)	472	ATM	Likely benign	1555107431	RCV000584411\|RCV002529190;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175491	108175491	NC_000011.9:g.108175491T>G	ClinGen:CA476675152	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5589T>C (p.Ser1863=)	472	ATM	Likely benign	786203902	RCV000167408\|RCV000199917\|RCV001697168;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108175494	108175494	11:g.108175494T>C	ClinGen:CA198218	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5590A>G (p.Thr1864Ala)	472	ATM	Uncertain significance	1240167425	RCV000528895\|RCV000564750\|RCV001551002\|RCV003392355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|	11	108175495	108175495	11:g.108175495A>G	ClinGen:CA382546178	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5591C>G (p.Thr1864Arg)	472	ATM	Uncertain significance	779156037	RCV000541198\|RCV000777200;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175496	108175496	11:g.108175496C>G	ClinGen:CA382546184	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5591C>T (p.Thr1864Ile)	472	ATM	Uncertain significance	779156037	RCV001224532\|RCV002293512\|RCV002348753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175496	108175496	11:g.108175496C>T	-
NM_000051.4(ATM):c.5592A>T (p.Thr1864=)	472	ATM	Likely benign	1426095621	RCV002116401;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175497	108175497	108175497	-
NM_000051.4(ATM):c.5592A>G (p.Thr1864=)	472	ATM	Likely benign	1426095621	RCV002181922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175497	108175497	108175497	-
NM_000051.4(ATM):c.5593C>A (p.His1865Asn)	472	ATM	Uncertain significance	567908537	RCV001917162\|RCV002255695;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175498	108175498	108175498	-
NM_000051.4(ATM):c.5594A>G (p.His1865Arg)	472	ATM	Uncertain significance	876659963	RCV000219995\|RCV001237135;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175499	108175499	11:g.108175499A>G	ClinGen:CA10579187	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5594_5595del (p.His1865fs)	472	ATM	Pathogenic	1555107450	RCV000561028\|RCV002526817;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175499	108175500	NC_000011.9:g.108175499_108175500del	ClinGen:CA658656260	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5595T>C (p.His1865=)	472	ATM	Likely benign	772261410	RCV000218108\|RCV000476630\|RCV000780888;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108175500	108175500	11:g.108175500T>C	ClinGen:CA6265735	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5595T>A (p.His1865Gln)	472	ATM	Uncertain significance	772261410	RCV000574538\|RCV001853756;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175500	108175500	NC_000011.9:g.108175500T>A	ClinGen:CA382546202	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5595T>G (p.His1865Gln)	472	ATM	Uncertain significance	772261410	RCV001215948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175500	108175500	11:g.108175500T>G	-
NM_000051.4(ATM):c.5596G>A (p.Val1866Ile)	472	ATM	Conflicting interpretations of pathogenicity	1468995507	RCV000772919\|RCV001067277\|RCV001797140;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108175501	108175501	NC_000011.9:g.108175501G>A	-
NM_000051.4(ATM):c.5597T>G (p.Val1866Gly)	472	ATM	Uncertain significance	2083600177	RCV001307406;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175502	108175502	108175502	-
NM_000051.4(ATM):c.5599C>A (p.Gln1867Lys)	472	ATM	Uncertain significance	2135944782	RCV001893015\|RCV002343974;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175504	108175504	108175504	-
NM_000051.4(ATM):c.5599C>G (p.Gln1867Glu)	472	ATM	Uncertain significance	2135944782	RCV002043722;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175504	108175504	108175504	-
NM_000051.4(ATM):c.5600A>G (p.Gln1867Arg)	472	ATM	Uncertain significance	1555107457	RCV000553610\|RCV000562723\|RCV001355630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	11	108175505	108175505	11:g.108175505A>G	ClinGen:CA382546228	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5602G>A (p.Gly1868Arg)	472	ATM	Uncertain significance	1565482078	RCV000772451\|RCV001856017;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175507	108175507	NC_000011.9:g.108175507G>A	-
NM_000051.4(ATM):c.5603G>A (p.Gly1868Glu)	472	ATM	Uncertain significance	1565482084	RCV000693687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175508	108175508	11:g.108175508G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5609dup (p.Thr1871fs)	472	ATM	Pathogenic	2083601046	RCV001387507\|RCV001176658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175509	108175510	11:g.108175509_108175510insT	-
NM_000051.4(ATM):c.5604A>C (p.Gly1868=)	472	ATM	Likely benign	-1	RCV002847860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175509	108175509		-
NM_000051.4(ATM):c.5604A>G (p.Gly1868=)	472	ATM	Likely benign	-1	RCV003052338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175509	108175509		-
NM_000051.4(ATM):c.5605T>C (p.Phe1869Leu)	472	ATM	Uncertain significance	975721205	RCV000465317\|RCV000563952\|RCV002248678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108175510	108175510	NC_000011.9:g.108175510T>C	ClinGen:CA16613067	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5605T>G (p.Phe1869Val)	472	ATM	Uncertain significance	975721205	RCV000694183\|RCV002343482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175510	108175510	11:g.108175510T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5607T>G (p.Phe1869Leu)	472	ATM	Uncertain significance	-1	RCV002344933\|RCV003103197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175512	108175512	108175512	-
NM_000051.4(ATM):c.5610C>T (p.Phe1870=)	472	ATM	Likely benign	2083601271	RCV002089011;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175515	108175515	108175515	-
NM_000051.4(ATM):c.5612C>T (p.Thr1871Ile)	472	ATM	Conflicting interpretations of pathogenicity	538452060	RCV000168364\|RCV000221360\|RCV000236794\|RCV003468831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175517	108175517	NC_000011.9:g.108175517C>T	ClinGen:CA334655	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5613C>T (p.Thr1871=)	472	ATM	Likely benign	2083601650	RCV001804400\|RCV002541400;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175518	108175518	108175518	-
NM_000051.4(ATM):c.5613C>G (p.Thr1871=)	472	ATM	Likely benign	2083601650	RCV002200200\|RCV002346378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175518	108175518	108175518	-
NM_000051.4(ATM):c.5614A>G (p.Ser1872Gly)	472	ATM	Uncertain significance	2135945114	RCV001963684;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175519	108175519	108175519	-
NM_000051.4(ATM):c.5615G>A (p.Ser1872Asn)	472	ATM	Conflicting interpretations of pathogenicity	761257154	RCV001302657\|RCV002350548;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175520	108175520	108175520	-
NM_000051.4(ATM):c.5615G>C (p.Ser1872Thr)	472	ATM	Uncertain significance	761257154	RCV001930215;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175520	108175520	108175520	-
NM_000051.4(ATM):c.5616C>T (p.Ser1872=)	472	ATM	Likely benign	-1	RCV002344985\|RCV003103200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175521	108175521		-
NM_000051.4(ATM):c.5617T>A (p.Cys1873Ser)	472	ATM	Uncertain significance	2083601964	RCV001181873\|RCV001876043;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175522	108175522	11:g.108175522T>A	-
NM_000051.4(ATM):c.5618G>T (p.Cys1873Phe)	472	ATM	Uncertain significance	587782239	RCV000130940\|RCV000233487\|RCV000486615;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108175523	108175523	11:g.108175523G>T	ClinGen:CA167424	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5618G>A (p.Cys1873Tyr)	472	ATM	Conflicting interpretations of pathogenicity	587782239	RCV000222325\|RCV000587287\|RCV000627966\|RCV003469066;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175523	108175523	11:g.108175523G>A	ClinGen:CA10579188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5622T>C (p.Leu1874=)	472	ATM	Likely benign	2135945293	RCV001423578;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175527	108175527	108175527	-
NM_000051.4(ATM):c.5623C>T (p.Arg1875Ter)	472	ATM	Pathogenic	376603775	RCV000236653\|RCV000493350\|RCV000540911\|RCV001257477\|RCV001258120;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108175528	108175528	NC_000011.9:g.108175528C>T	ClinGen:CA6265737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5623C>A (p.Arg1875=)	472	ATM	Likely benign	376603775	RCV000529754\|RCV000777187;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175528	108175528	11:g.108175528C>A	ClinGen:CA476675174	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5626_5641del (p.His1876fs)	472	ATM	Pathogenic	-1	RCV002881801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175528	108175543	NC_000011.9:g.108175531_108175546del	-
NM_000051.4(ATM):c.5624G>A (p.Arg1875Gln)	472	ATM	Uncertain significance	762304746	RCV000200481\|RCV000223417\|RCV003462318;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175529	108175529	NC_000011.9:g.108175529G>A	ClinGen:CA339334	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5624G>C (p.Arg1875Pro)	472	ATM	Uncertain significance	762304746	RCV000553535\|RCV000565218\|RCV001356952\|RCV003392356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|	11	108175529	108175529	11:g.108175529G>C	ClinGen:CA6265738	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5626C>T (p.His1876Tyr)	472	ATM	Uncertain significance	1060501567	RCV000469266\|RCV000583798;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175531	108175531	NC_000011.9:g.108175531C>T	ClinGen:CA16613070	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5627A>G (p.His1876Arg)	472	ATM	Uncertain significance	967371351	RCV001875553\|RCV002343969;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175532	108175532	108175532	-
NM_000051.4(ATM):c.5628C>A (p.His1876Gln)	472	ATM	Uncertain significance	1237700879	RCV000584389\|RCV000627881;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175533	108175533	11:g.108175533C>A	ClinGen:CA382546372	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5628C>T (p.His1876=)	472	ATM	Likely benign	1237700879	RCV001187019\|RCV002559962;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175533	108175533	11:g.108175533C>T	-
NM_000051.4(ATM):c.5630T>C (p.Phe1877Ser)	472	ATM	Conflicting interpretations of pathogenicity	202028401	RCV000159735\|RCV000472045\|RCV000567744\|RCV001357645\|RCV003338433;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175535	108175535	NC_000011.9:g.108175535T>C	ClinGen:CA298278	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5631_5635delinsA (p.Phe1877fs)	472	ATM	Pathogenic/Likely pathogenic	758852420	RCV000218244\|RCV000256000\|RCV000690602\|RCV003338469\|RCV003475033;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108175536	108175540	11:g.108175537_108175540del	ClinGen:CA10579189	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5631C>G (p.Phe1877Leu)	472	ATM	Uncertain significance	751327903	RCV000227038\|RCV002282066\|RCV002347852;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175536	108175536	NC_000011.9:g.108175536C>G	ClinGen:CA10582833	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5632_5635del (p.Ser1878fs)	472	ATM	Uncertain significance	758852420	RCV000357387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175536	108175539	NC_000011.9:g.108175537_108175540del	ClinGen:CA6265739	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5632T>C (p.Ser1878Pro)	472	ATM	Uncertain significance	-1	RCV003042914;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175537	108175537	NC_000011.9:g.108175537T>C	-
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu)	472	ATM	Conflicting interpretations of pathogenicity	758908522	RCV000489997\|RCV000546553\|RCV000569421\|RCV000780900\|RCV003316640;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175538	108175538	11:g.108175538C>T	ClinGen:CA6265741	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5634G>A (p.Ser1878=)	472	ATM	Likely benign	767070325	RCV000430862\|RCV000564521\|RCV000628243\|RCV001798799;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108175539	108175539	11:g.108175539G>A	ClinGen:CA6265742	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5635C>A (p.Gln1879Lys)	472	ATM	Uncertain significance	756109905	RCV001105764;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175540	108175540	11:g.108175540C>A	-
NM_000051.4(ATM):c.5636A>G (p.Gln1879Arg)	472	ATM	Uncertain significance	786203086	RCV000166234\|RCV000236341\|RCV001063273;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175541	108175541	11:g.108175541A>G	ClinGen:CA195330	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5637A>C (p.Gln1879His)	472	ATM	Uncertain significance	587781993	RCV000130399\|RCV001271265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175542	108175542	11:g.108175542A>C	ClinGen:CA166358	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5637A>G (p.Gln1879=)	472	ATM	Conflicting interpretations of pathogenicity	587781993	RCV000471384\|RCV000570357;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175542	108175542	NC_000011.9:g.108175542A>G	ClinGen:CA16613072	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5639C>T (p.Thr1880Met)	472	ATM	Uncertain significance	587780628	RCV000122860\|RCV000131551\|RCV000212030;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108175544	108175544	NC_000011.9:g.108175544C>T	ClinGen:CA294391	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5639C>A (p.Thr1880Lys)	472	ATM	Uncertain significance	587780628	RCV000988696;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175544	108175544	11:g.108175544C>A	-
NM_000051.4(ATM):c.5640G>A (p.Thr1880=)	472	ATM	Likely benign	757103582	RCV000456927\|RCV000777921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175545	108175545	NC_000011.9:g.108175545G>A	ClinGen:CA6265747	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5640G>T (p.Thr1880=)	472	ATM	Likely benign	757103582	RCV000606507\|RCV002062163;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175545	108175545	11:g.108175545G>T	ClinGen:CA476675181	CN169374 not specified;
NM_000051.4(ATM):c.5642G>C (p.Ser1881Thr)	472	ATM	Uncertain significance	2135945850	RCV001914620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175547	108175547	108175547	-
NM_000051.4(ATM):c.5644C>T (p.Arg1882Ter)	472	ATM	Pathogenic/Likely pathogenic	786204433	RCV000169043\|RCV000213135\|RCV000235346\|RCV003162721\|RCV003129794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:00	11	108175549	108175549	NC_000011.9:g.108175549C>T	ClinGen:CA334788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5644C>A (p.Arg1882=)	472	ATM	Likely benign	786204433	RCV002148968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175549	108175549	108175549	-
NM_000051.4(ATM):c.5645G>A (p.Arg1882Gln)	472	ATM	Uncertain significance	587782236	RCV000130937\|RCV000530461\|RCV001260302\|RCV003314563\|RCV003467161;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175550	108175550	11:g.108175550G>A	ClinGen:CA167411	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5645G>C (p.Arg1882Pro)	472	ATM	Uncertain significance	587782236	RCV000564233\|RCV001372478;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175550	108175550	NC_000011.9:g.108175550G>C	ClinGen:CA382546469	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5645G>T (p.Arg1882Leu)	472	ATM	Uncertain significance	-1	RCV003020380;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175550	108175550	NC_000011.9:g.108175550G>T	-
NM_000051.4(ATM):c.5650_5657del (p.Thr1884fs)	472	ATM	Pathogenic	1591718522	RCV001024370\|RCV001240622\|RCV002481834\|RCV003467681;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MO	11	108175553	108175560	11:g.108175553_108175560del	-
NM_000051.4(ATM):c.5649del (p.Thr1884fs)	472	ATM	Pathogenic	2083605298	RCV001229090;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175553	108175553	11:g.108175553_108175553del	-
NM_000051.4(ATM):c.5648C>T (p.Ser1883Phe)	472	ATM	Uncertain significance	2083605154	RCV001240403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175553	108175553	11:g.108175553C>T	-
NM_000051.4(ATM):c.5649C>T (p.Ser1883=)	472	ATM	Likely benign	1057522721	RCV000563061\|RCV000542762\|RCV001698268;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108175554	108175554	11:g.108175554C>T	ClinGen:CA16606197	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5650A>G (p.Thr1884Ala)	472	ATM	Conflicting interpretations of pathogenicity	1555107562	RCV000559863\|RCV001181314;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175555	108175555	11:g.108175555A>G	ClinGen:CA382546491	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5653dup (p.Thr1885fs)	472	ATM	Pathogenic	587778077	RCV000120144\|RCV000167879\|RCV000484485\|RCV001249857;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN517202\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108175556	108175557	NC_000011.9:g.108175558dup	ClinGen:CA157134	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5651C>T (p.Thr1884Ile)	472	ATM	Uncertain significance	1565482352	RCV000775014\|RCV002534171;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175556	108175556	NC_000011.9:g.108175556C>T	-
NM_000051.4(ATM):c.5652A>G (p.Thr1884=)	472	ATM	Likely benign	1591718571	RCV000932393\|RCV001024372\|RCV001356429;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108175557	108175557	11:g.108175557A>G	-
NM_000051.4(ATM):c.5653A>T (p.Thr1885Ser)	472	ATM	Uncertain significance	587779850	RCV000115215\|RCV000213673\|RCV000687995\|RCV003467028;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175558	108175558	NC_000011.9:g.108175558A>T	ClinGen:CA286900	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5654C>T (p.Thr1885Ile)	472	ATM	Uncertain significance	2083606342	RCV001043613\|RCV002348362;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175559	108175559	11:g.108175559C>T	-
NM_000051.4(ATM):c.5657del (p.Pro1886fs)	472	ATM	Pathogenic	2135946188	RCV001385438;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175559	108175559	108175558	-
NM_000051.4(ATM):c.5655C>G (p.Thr1885=)	472	ATM	Likely benign	1555107577	RCV001423959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175560	108175560	108175560	-
NM_000051.4(ATM):c.5658T>C (p.Pro1886=)	472	ATM	Likely benign	940182945	RCV000568664\|RCV000988697\|RCV000613337\|RCV001357771;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108175563	108175563	11:g.108175563T>C	ClinGen:CA16613077	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5659G>A (p.Ala1887Thr)	472	ATM	Uncertain significance	2083606754	RCV001221968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175564	108175564	11:g.108175564G>A	-
NM_000051.4(ATM):c.5660C>T (p.Ala1887Val)	472	ATM	Uncertain significance	1297909613	RCV000568336\|RCV000627919;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175565	108175565	NC_000011.9:g.108175565C>T	ClinGen:CA382546542	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5660C>G (p.Ala1887Gly)	472	ATM	Uncertain significance	1297909613	RCV001202350;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175565	108175565	11:g.108175565C>G	-
NM_000051.4(ATM):c.5661A>G (p.Ala1887=)	472	ATM	Likely benign	876658939	RCV000214516\|RCV000872195\|RCV001844091;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108175566	108175566	11:g.108175566A>G	ClinGen:CA10579190	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5661A>T (p.Ala1887=)	472	ATM	Likely benign	876658939	RCV001024382\|RCV001473735;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175566	108175566	11:g.108175566A>T	-
NM_000051.4(ATM):c.5665T>A (p.Leu1889Met)	472	ATM	Uncertain significance	746106249	RCV000216226\|RCV000813851;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175570	108175570	11:g.108175570T>A	ClinGen:CA10579191	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5672C>T (p.Ser1891Leu)	472	ATM	Uncertain significance	2135946592	RCV002025403\|RCV003303565;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108175577	108175577	108175577	-
NM_000051.4(ATM):c.5673A>G (p.Ser1891=)	472	ATM	Uncertain significance	1555107607	RCV000549542;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175578	108175578	11:g.108175578A>G	ClinGen:CA476675207	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5674G>A (p.Glu1892Lys)	472	ATM	Uncertain significance	730881375	RCV000159736\|RCV000694433\|RCV000771875\|RCV003467234;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108175579	108175579	NC_000011.9:g.108175579G>A	ClinGen:CA298281	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5674+1G>T	472	ATM	Pathogenic/Likely pathogenic	1565482453	RCV000774309\|RCV001171405\|RCV002259369\|RCV002534132;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175580	108175580	NC_000011.9:g.108175580G>T	-
NM_000051.4(ATM):c.5674+6C>G	472	ATM	Conflicting interpretations of pathogenicity	780204400	RCV000557247\|RCV000583627\|RCV001293568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108175585	108175585	NC_000011.9:g.108175585C>G	ClinGen:CA6265749	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5674+7T>A	472	ATM	Likely benign	1591718715	RCV001421667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175586	108175586	11:g.108175586T>A	-
NM_000051.4(ATM):c.5674+7T>C	472	ATM	Likely benign	-1	RCV002811975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175586	108175586	NC_000011.9:g.108175586T>C	-
NM_000051.4(ATM):c.5674+8A>C	472	ATM	Likely benign	1033110152	RCV001395656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175587	108175587	108175587	-
NM_000051.4(ATM):c.5674+8A>G	472	ATM	Likely benign	1033110152	RCV001432650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175587	108175587	108175587	-
NM_000051.4(ATM):c.5674+9T>C	472	ATM	Likely benign	-1	RCV002815250;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175588	108175588	NC_000011.9:g.108175588T>C	-
NM_000051.4(ATM):c.5674+13A>G	472	ATM	Likely benign	1555107618	RCV000582087\|RCV002530779;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175592	108175592	11:g.108175592A>G	ClinGen:CA658683127	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5674+14T>C	472	ATM	Likely benign	2083608444	RCV001175661\|RCV002068138;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175593	108175593	11:g.108175593T>C	-
NM_000051.4(ATM):c.5674+14T>A	472	ATM	Likely benign	2083608444	RCV002106117;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175593	108175593	108175593	-
NM_000051.4(ATM):c.5674+18del	472	ATM	Benign	-1	RCV002857211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175593	108175593	NC_000011.9:g.108175597del	-
NM_000051.4(ATM):c.5674+19A>C	472	ATM	Likely benign	2135946949	RCV002141599;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108175598	108175598	108175598	-
NM_000051.4(ATM):c.5675-19A>G	472	ATM	Likely benign	-1	RCV003041576;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178605	108178605	NC_000011.9:g.108178605A>G	-
NM_000051.4(ATM):c.5675-15A>G	472	ATM	Likely benign	1565485867	RCV000777561\|RCV002067362;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178609	108178609	NC_000011.9:g.108178609A>G	-
NM_000051.4(ATM):c.5675-13T>A	472	ATM	Conflicting interpretations of pathogenicity	373219694	RCV000581032\|RCV001811082\|RCV002060551;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178611	108178611	11:g.108178611T>A	ClinGen:CA6265754	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5675-7_5675-4del	472	ATM	Uncertain significance	1189695629	RCV000537967\|RCV001178546\|RCV001584235\|RCV003323589;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108178612	108178615	11:g.108178612_108178615del	ClinGen:CA601723510	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5675-11T>C	472	ATM	Likely benign	-1	RCV003002795;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178613	108178613	NC_000011.9:g.108178613T>C	-
NM_000051.4(ATM):c.5675-10T>G	472	ATM	Uncertain significance	377599533	RCV000235510\|RCV000627867;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178614	108178614	NC_000011.9:g.108178614T>G	ClinGen:CA6265755	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108307887)_(108365508_?)del	472	ATM	Pathogenic	-1	RCV001031233;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178614	108236235	-1	-
NC_000011.9:g.(?_108178614)_(108183235_?)dup	472	ATM	Likely pathogenic	-1	RCV001378296;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178614	108183235	-1	-
NC_000011.9:g.(?_108178614)_(108178721_?)del	472	ATM	Pathogenic	-1	RCV001381456;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178614	108178721	-1	-
NC_000011.9:g.(?_108178614)_(108188258_?)del	472	ATM	Pathogenic	-1	RCV001389396;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178614	108188258	-1	-
NM_000051.4(ATM):c.5675-10T>A	472	ATM	Uncertain significance	377599533	RCV001894736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178614	108178614	108178614	-
NM_000051.4(ATM):c.5675-10T>C	472	ATM	Likely benign	-1	RCV002862784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178614	108178614	NC_000011.9:g.108178614T>C	-
NC_000011.9:g.(?_108178618)_(108236241_?)del	472	ATM	Pathogenic	-1	RCV000550899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178618	108236241		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5675-5G>C	472	ATM	Likely benign	1591731701	RCV001485988;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178619	108178619	108178619	-
NM_000051.4(ATM):c.5675-4T>A	472	ATM	Conflicting interpretations of pathogenicity	56075338	RCV000214255\|RCV000590713\|RCV001085879\|RCV001355672;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108178620	108178620	11:g.108178620T>A	ClinGen:CA336609	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5675-3C>G	472	ATM	Conflicting interpretations of pathogenicity	876658545	RCV000222311\|RCV000803771;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178621	108178621	11:g.108178621C>G	ClinGen:CA10579192	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5675-2dup	472	ATM	Uncertain significance	2135975648	RCV001367450;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178621	108178622	108178621	-
NM_000051.4(ATM):c.5675-1G>C	472	ATM	Likely pathogenic	2135975662	RCV001379095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178623	108178623	108178623	-
NM_000051.4(ATM):c.5677_5680del (p.Glu1894fs)	472	ATM	Pathogenic	2135975673	RCV001387269;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178624	108178627	108178623	-
NM_000051.4(ATM):c.5676G>T (p.Glu1892Asp)	472	ATM	Uncertain significance	2135975691	RCV001999025;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178625	108178625	108178625	-
NM_000051.4(ATM):c.5678C>T (p.Ser1893Leu)	472	ATM	Uncertain significance	-1	RCV002298324\|RCV002346589;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178627	108178627	108178627	-
NM_000051.4(ATM):c.5681_5682del (p.Glu1894fs)	472	ATM	Pathogenic	1060501580	RCV000474355\|RCV000573949;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178628	108178629	NC_000011.9:g.108178628AG[1]	ClinGen:CA16613385	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5682G>A (p.Glu1894=)	472	ATM	Likely benign	2135975851	RCV002158245;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178631	108178631	108178631	-
NM_000051.4(ATM):c.5683C>G (p.His1895Asp)	472	ATM	Uncertain significance	766901049	RCV000471741;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178632	108178632	NC_000011.9:g.108178632C>G	ClinGen:CA16613451	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5683C>A (p.His1895Asn)	472	ATM	Uncertain significance	766901049	RCV000572229\|RCV001208305\|RCV003227795\|RCV003459340;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178632	108178632	NC_000011.9:g.108178632C>A	ClinGen:CA382547751	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5683C>T (p.His1895Tyr)	472	ATM	Uncertain significance	766901049	RCV000564290\|RCV000628140\|RCV001560417\|RCV003321676;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108178632	108178632	NC_000011.9:g.108178632C>T	ClinGen:CA6265756	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5684A>C (p.His1895Pro)	472	ATM	Uncertain significance	2135975923	RCV001988660;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178633	108178633	108178633	-
NM_000051.4(ATM):c.5685C>A (p.His1895Gln)	472	ATM	Uncertain significance	889445709	RCV000562812\|RCV001066774;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178634	108178634	NC_000011.9:g.108178634C>A	ClinGen:CA228394526	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5685C>T (p.His1895=)	472	ATM	Likely benign	889445709	RCV001451693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178634	108178634	11:g.108178634C>T	-
NM_000051.4(ATM):c.5686T>G (p.Phe1896Val)	472	ATM	Uncertain significance	1565485959	RCV000688084;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178635	108178635	NC_000011.9:g.108178635T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5690del (p.Phe1897fs)	472	ATM	Pathogenic	1591731851	RCV001024413\|RCV001384304;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178635	108178635	11:g.108178635_108178635del	-
NM_000051.4(ATM):c.5688T>C (p.Phe1896=)	472	ATM	Likely benign	2083815927	RCV002172037;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178637	108178637	108178637	-
NM_000051.4(ATM):c.5690T>G (p.Phe1897Cys)	472	ATM	Uncertain significance	587782516	RCV000131670\|RCV000627971;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178639	108178639	11:g.108178639T>G	ClinGen:CA168576	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5691C>T (p.Phe1897=)	472	ATM	Likely benign	1555109057	RCV000628224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178640	108178640	11:g.108178640C>T	ClinGen:CA476675220	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5692C>T (p.Arg1898Ter)	472	ATM	Pathogenic	775036118	RCV000571941\|RCV000671308\|RCV002255463\|RCV003159965\|RCV003332201\|RCV003465216;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:00	11	108178641	108178641	NC_000011.9:g.108178641C>T	ClinGen:CA6265757	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5693G>A (p.Arg1898Gln)	472	ATM	Benign/Likely benign	370680798	RCV000120146\|RCV000159738\|RCV000550304\|RCV001355719\|RCV001719879\|RCV003149822;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562	11	108178642	108178642	11:g.108178642G>A	ClinGen:CA157138	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5695T>A (p.Cys1899Ser)	472	ATM	Uncertain significance	373213507	RCV000562066\|RCV001228049;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178644	108178644	11:g.108178644T>A	ClinGen:CA382547796	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5695T>C (p.Cys1899Arg)	472	ATM	Uncertain significance	373213507	RCV000628014\|RCV000777922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178644	108178644	NC_000011.9:g.108178644T>C	ClinGen:CA6265758	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5697C>A (p.Cys1899Ter)	472	ATM	Pathogenic	753839301	RCV000478233\|RCV001045999\|RCV002350067;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178646	108178646	11:g.108178646C>A	ClinGen:CA6265759	CN517202 not provided;
NM_000051.4(ATM):c.5697C>T (p.Cys1899=)	472	ATM	Likely benign	753839301	RCV001024416\|RCV002067674;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178646	108178646	11:g.108178646C>T	-
NM_000051.4(ATM):c.5698T>G (p.Cys1900Gly)	472	ATM	Uncertain significance	2083817433	RCV001319578;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178647	108178647	108178647	-
NM_000051.4(ATM):c.5699G>C (p.Cys1900Ser)	472	ATM	Uncertain significance	1591731972	RCV000797958\|RCV003166165;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178648	108178648	11:g.108178648G>C	-
NM_000051.4(ATM):c.5701T>C (p.Leu1901=)	472	ATM	Likely benign	2135976467	RCV002177008\|RCV002256900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178650	108178650	108178650	-
NM_000051.4(ATM):c.5703G>C (p.Leu1901Phe)	472	ATM	Uncertain significance	756979112	RCV000800331\|RCV002345784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178652	108178652	11:g.108178652G>C	-
NM_000051.4(ATM):c.5703G>T (p.Leu1901Phe)	472	ATM	Uncertain significance	756979112	RCV001344155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178652	108178652	108178652	-
NM_000051.4(ATM):c.5704G>T (p.Asp1902Tyr)	472	ATM	Uncertain significance	1565486050	RCV000688665;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178653	108178653	NC_000011.9:g.108178653G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5704G>A (p.Asp1902Asn)	472	ATM	Uncertain significance	1565486050	RCV001960491;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178653	108178653	108178653	-
NM_000051.4(ATM):c.5705A>G (p.Asp1902Gly)	472	ATM	Uncertain significance	1565486057	RCV000699604\|RCV001024436;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178654	108178654	11:g.108178654A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5705A>T (p.Asp1902Val)	472	ATM	Uncertain significance	-1	RCV002650838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178654	108178654	NC_000011.9:g.108178654A>T	-
NM_000051.4(ATM):c.5712dup (p.Ser1905fs)	472	ATM	Pathogenic/Likely pathogenic	587781730	RCV000129923\|RCV000169006\|RCV000212031\|RCV001355219\|RCV002492499\|RCV003162577\|RCV003474755;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO	11	108178655	108178656	11:g.108178655_108178656insA	ClinGen:CA273879	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5707A>G (p.Lys1903Glu)	472	ATM	Uncertain significance	765027485	RCV000221888\|RCV000468754\|RCV002259323\|RCV003230456\|RCV002485414;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108178656	108178656	11:g.108178656A>G	ClinGen:CA6265761	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5712del (p.Lys1904fs)	472	ATM	Pathogenic/Likely pathogenic	587781730	RCV000576852\|RCV002350405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178656	108178656	NC_000011.9:g.108178661del	ClinGen:CA658656267	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5708A>G (p.Lys1903Arg)	472	ATM	Uncertain significance	2083818567	RCV001226597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178657	108178657	11:g.108178657A>G	-
NM_000051.4(ATM):c.5709A>G (p.Lys1903=)	472	ATM	Likely benign	2135976714	RCV001424051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178658	108178658	108178658	-
NM_000051.4(ATM):c.5710A>T (p.Lys1904Ter)	472	ATM	Pathogenic	-1	RCV002833200;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178659	108178659	NC_000011.9:g.108178659A>T	-
NM_000051.4(ATM):c.5712A>G (p.Lys1904=)	472	ATM	Likely benign	864622127	RCV000611930\|RCV001418764\|RCV003390949;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108178661	108178661	11:g.108178661A>G	ClinGen:CA348682	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5715A>G (p.Ser1905=)	472	ATM	Likely benign	1057524579	RCV000444653\|RCV000575042\|RCV000988698;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178664	108178664	11:g.108178664A>G	ClinGen:CA16606100	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5716C>T (p.Gln1906Ter)	472	ATM	Pathogenic/Likely pathogenic	2135976898	RCV002039979\|RCV002343891\|RCV003332351\|RCV003475117;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178665	108178665	108178665	-
NM_000051.4(ATM):c.5718_5719del (p.Arg1907fs)	472	ATM	Pathogenic	1555109102	RCV000526456\|RCV001024443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178666	108178667	11:g.108178666_108178667del	ClinGen:CA658656268	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5717A>G (p.Gln1906Arg)	472	ATM	Uncertain significance	1591732095	RCV001024442\|RCV001832356;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178666	108178666	11:g.108178666A>G	-
NM_000051.4(ATM):c.5718A>G (p.Gln1906=)	472	ATM	Likely benign	863224293	RCV000197514\|RCV000599673\|RCV001024445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178667	108178667	11:g.108178667A>G	ClinGen:CA337270	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5719A>G (p.Arg1907Gly)	472	ATM	Uncertain significance	2083819737	RCV001339903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178668	108178668	108178668	-
NM_000051.4(ATM):c.5723C>G (p.Thr1908Arg)	472	ATM	Uncertain significance	2135977089	RCV001365352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178672	108178672	108178672	-
NM_000051.4(ATM):c.5723del (p.Thr1908fs)	472	ATM	Pathogenic	2135977126	RCV001947261;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178672	108178672	108178671	-
NM_000051.4(ATM):c.5723C>T (p.Thr1908Ile)	472	ATM	Uncertain significance	2135977089	RCV001917904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178672	108178672	108178672	-
NM_000051.4(ATM):c.5724A>G (p.Thr1908=)	472	ATM	Likely benign	2135977142	RCV002190058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178673	108178673	108178673	-
NM_000051.4(ATM):c.5725A>G (p.Met1909Val)	472	ATM	Uncertain significance	750561317	RCV000216841\|RCV000478945\|RCV000802222;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178674	108178674	11:g.108178674A>G	ClinGen:CA6265762	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5726T>G (p.Met1909Arg)	472	ATM	Uncertain significance	542378165	RCV000567521\|RCV001063992;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178675	108178675	NC_000011.9:g.108178675T>G	ClinGen:CA382547951	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5726T>A (p.Met1909Lys)	472	ATM	Uncertain significance	542378165	RCV000824344;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178675	108178675	11:g.108178675T>A	-
NM_000051.4(ATM):c.5726T>C (p.Met1909Thr)	472	ATM	Uncertain significance	542378165	RCV001343901\|RCV003355411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178675	108178675	108178675	-
NM_000051.4(ATM):c.5727G>A (p.Met1909Ile)	472	ATM	Uncertain significance	1555109119	RCV000563451\|RCV000806909;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178676	108178676	NC_000011.9:g.108178676G>A	ClinGen:CA382547952	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5728C>A (p.Leu1910Ile)	472	ATM	Uncertain significance	143577586	RCV000165074\|RCV000196827\|RCV000254907\|RCV003468733;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178677	108178677	11:g.108178677C>A	ClinGen:CA192449	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5728C>T (p.Leu1910Phe)	472	ATM	Uncertain significance	143577586	RCV001058338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178677	108178677	11:g.108178677C>T	-
NM_000051.4(ATM):c.5728C>G (p.Leu1910Val)	472	ATM	Uncertain significance	143577586	RCV001945340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178677	108178677	108178677	-
NM_000051.4(ATM):c.5729T>C (p.Leu1910Pro)	472	ATM	Uncertain significance	2135977294	RCV001957527;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178678	108178678	108178678	-
NM_000051.4(ATM):c.5731G>C (p.Ala1911Pro)	472	ATM	Uncertain significance	2135977350	RCV002009055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178680	108178680	108178680	-
NM_000051.4(ATM):c.5734G>C (p.Val1912Leu)	472	ATM	Uncertain significance	1064794105	RCV000483178\|RCV001217633;	N	MedGen:CN517202\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178683	108178683	11:g.108178683G>C	ClinGen:CA16619201	CN169374 not specified;
NM_000051.4(ATM):c.5734G>A (p.Val1912Ile)	472	ATM	Uncertain significance	1064794105	RCV000582530\|RCV001834830;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178683	108178683	NC_000011.9:g.108178683G>A	ClinGen:CA382547966	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5736dup (p.Val1913fs)	472	ATM	Pathogenic	2135977494	RCV001950007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178683	108178684	108178683	-
NM_000051.4(ATM):c.5736T>C (p.Val1912=)	472	ATM	Likely benign	1060504302	RCV001439409\|RCV002350016;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178685	108178685	NC_000011.9:g.108178685T>C	ClinGen:CA16613388	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5737_5743del (p.Val1913fs)	472	ATM	Pathogenic	2135977542	RCV001381591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178685	108178691	108178684	-
NM_000051.4(ATM):c.5738T>G (p.Val1913Gly)	472	ATM	Uncertain significance	1060501688	RCV000472896\|RCV003329283\|RCV003372718;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178687	108178687	NC_000011.9:g.108178687T>G	ClinGen:CA16613078	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5741del (p.Asp1914fs)	472	ATM	Pathogenic	2083821626	RCV001039890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178690	108178690	11:g.108178690_108178690del	-
NM_000051.4(ATM):c.5743T>C (p.Tyr1915His)	472	ATM	Uncertain significance	2135977706	RCV001892514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178692	108178692	108178692	-
NM_000051.4(ATM):c.5745del (p.Asp1914_Tyr1915insTer)	472	ATM	Pathogenic/Likely pathogenic	1555109147	RCV000657837\|RCV001861686\|RCV002343404;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178694	108178694	NC_000011.9:g.108178694del	-	CN517202 not provided;
NM_000051.4(ATM):c.5746A>G (p.Met1916Val)	472	ATM	Uncertain significance	910274159	RCV000561900\|RCV001056111;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178695	108178695	NC_000011.9:g.108178695A>G	ClinGen:CA228394578	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5746A>T (p.Met1916Leu)	472	ATM	Uncertain significance	910274159	RCV001352115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178695	108178695	108178695	-
NM_000051.4(ATM):c.5747T>C (p.Met1916Thr)	472	ATM	Uncertain significance	1060501557	RCV000471247\|RCV000482185\|RCV000574580\|RCV001355236\|RCV002289607;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178696	108178696	NC_000011.9:g.108178696T>C	ClinGen:CA16613079	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5748_5750del (p.Met1916_Arg1917delinsIle)	472	ATM	Uncertain significance	876659524	RCV000213872\|RCV001853576;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178697	108178699	11:g.108178697_108178699del	ClinGen:CA10579194	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5748G>A (p.Met1916Ile)	472	ATM	Uncertain significance	2083822362	RCV001216789;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178697	108178697	11:g.108178697G>A	-
NM_000051.4(ATM):c.5749A>G (p.Arg1917Gly)	472	ATM	Uncertain significance	2083822627	RCV001175071\|RCV001226187\|RCV002348594;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178698	108178698	11:g.108178698A>G	-
NM_000051.4(ATM):c.5750G>C (p.Arg1917Thr)	472	ATM	Uncertain significance	377289524	RCV000129190\|RCV000471458\|RCV000486854\|RCV002271412\|RCV003467104;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178699	108178699	11:g.108178699G>C	ClinGen:CA163939	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5750G>A (p.Arg1917Lys)	472	ATM	Uncertain significance	377289524	RCV000580990\|RCV000810238;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178699	108178699	NC_000011.9:g.108178699G>A	ClinGen:CA382547999	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5752A>C (p.Arg1918=)	472	ATM	Likely benign	-1	RCV002806855;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178701	108178701		-
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr)	472	ATM	Conflicting interpretations of pathogenicity	148064985	RCV000131724\|RCV000199373\|RCV000587454\|RCV001705933\|RCV003407555\|RCV003467183;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178702	108178702	11:g.108178702G>C	ClinGen:CA168653	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5755C>T (p.Gln1919Ter)	472	ATM	Pathogenic	2083823146	RCV001204871\|RCV001554317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222	11	108178704	108178704	11:g.108178704C>T	-
NM_000051.4(ATM):c.5755C>G (p.Gln1919Glu)	472	ATM	Uncertain significance	2083823146	RCV001976428\|RCV002256877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178704	108178704	108178704	-
NM_000051.4(ATM):c.5755C>A (p.Gln1919Lys)	472	ATM	Uncertain significance	-1	RCV002300445\|RCV002346590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178704	108178704	108178704	-
NM_000051.4(ATM):c.5756A>C (p.Gln1919Pro)	472	ATM	Uncertain significance	1565486302	RCV000704353\|RCV002343552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178705	108178705	11:g.108178705A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5757_5761del (p.Lys1920fs)	472	ATM	Pathogenic	1591732424	RCV000988699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178705	108178709	11:g.108178705_108178709del	-
NM_000051.4(ATM):c.5757A>G (p.Gln1919=)	472	ATM	Likely benign	1555109182	RCV000581368\|RCV002060612;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178706	108178706	11:g.108178706A>G	ClinGen:CA476675257	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5759A>G (p.Lys1920Arg)	472	ATM	Uncertain significance	2135978116	RCV001884606;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178708	108178708	108178708	-
NM_000051.4(ATM):c.5761A>G (p.Arg1921Gly)	472	ATM	Uncertain significance	1060501527	RCV000466293\|RCV000580680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108178710	108178710	NC_000011.9:g.108178710A>G	ClinGen:CA16613452	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5762+1G>T	472	ATM	Pathogenic/Likely pathogenic	869312756	RCV000210115\|RCV000229503\|RCV003468971;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178712	108178712	11:g.108178712G>T	ClinGen:CA353503	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5762+1G>A	472	ATM	Likely pathogenic	869312756	RCV000572451\|RCV000693089\|RCV002305508\|RCV003476328;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178712	108178712	NC_000011.9:g.108178712G>A	ClinGen:CA382548029	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5762+3A>T	472	ATM	Uncertain significance	-1	RCV003031748;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178714	108178714	NC_000011.9:g.108178714A>T	-
NM_000051.4(ATM):c.5762+6G>A	472	ATM	Conflicting interpretations of pathogenicity	776532221	RCV000607236\|RCV000777923\|RCV000823989;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178717	108178717	11:g.108178717G>A	ClinGen:CA6265765	CN169374 not specified;
NM_000051.4(ATM):c.5762+8A>C	472	ATM	Uncertain significance	2083824504	RCV001105765;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178719	108178719	11:g.108178719A>C	-
NM_000051.4(ATM):c.5762+9A>G	472	ATM	Conflicting interpretations of pathogenicity	1565486371	RCV000687339\|RCV003453418;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108178720	108178720	NC_000011.9:g.108178720A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5762+10T>C	472	ATM	Likely benign	1276744102	RCV001427845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178721	108178721	NC_000011.9:g.108178721T>C	ClinGen:CA601723528	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5762+11G>C	472	ATM	Likely benign	2135978459	RCV002211814;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178722	108178722	108178722	-
NM_000051.4(ATM):c.5762+11G>A	472	ATM	Likely benign	-1	RCV002877288;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178722	108178722	NC_000011.9:g.108178722G>A	-
NM_000051.4(ATM):c.5762+12A>C	472	ATM	Likely benign	2135978517	RCV002208976;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178723	108178723	108178723	-
NM_000051.4(ATM):c.5762+13G>A	472	ATM	Likely benign	-1	RCV002880752;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178724	108178724	NC_000011.9:g.108178724G>A	-
NM_000051.4(ATM):c.5762+19C>T	472	ATM	Likely benign	1170960696	RCV000581703\|RCV002060613;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178730	108178730	11:g.108178730C>T	ClinGen:CA658683130	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5762+20T>C	472	ATM	Likely benign	2135978759	RCV002208625;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108178731	108178731	108178731	-
NM_000051.4(ATM):c.5763-1050A>G	472	ATM	Pathogenic/Likely pathogenic	774925473	RCV000003157\|RCV000229886\|RCV000494077\|RCV000724150\|RCV002496239\|RCV003149561\|RCV003466789;	N	MONDO:MONDO:0018266,MedGen:C1876175, Orphanet:370109\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:10	11	108179837	108179837	11:g.108179837A>G	ClinGen:CA115927,OMIM:607585.0004	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5763-20_5763-18del	472	ATM	Likely benign	777468149	RCV001184740\|RCV002068392;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180865	108180867	11:g.108180865_108180867del	-
NM_000051.4(ATM):c.5763-17_5763-16del	472	ATM	Likely benign	1064793040	RCV000478114\|RCV001177307\|RCV002056730;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180867	108180868	NC_000011.9:g.108180868AT[1]	ClinGen:CA16619202	CN169374 not specified;
NM_000051.4(ATM):c.5763-19A>G	472	ATM	Likely benign	967402817	RCV000583251\|RCV002529191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180868	108180868	NC_000011.9:g.108180868A>G	ClinGen:CA228396299	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5763-14_5763-13del	472	ATM	Likely benign	1064794707	RCV000479147\|RCV002056783;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180871	108180872	NC_000011.9:g.108180871TC[1]	ClinGen:CA16619203	CN169374 not specified;
NM_000051.4(ATM):c.5763-15C>G	472	ATM	Likely benign	-1	RCV003050015;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180872	108180872	NC_000011.9:g.108180872C>G	-
NM_000051.4(ATM):c.5763-13C>T	472	ATM	Likely benign	1057522554	RCV000427041\|RCV001184474\|RCV003105903;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180874	108180874	11:g.108180874C>T	ClinGen:CA16606101	CN169374 not specified;
NM_000051.4(ATM):c.5763-12A>G	472	ATM	Likely benign	1057523388	RCV000435553\|RCV002059927;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180875	108180875	11:g.108180875A>G	ClinGen:CA16606830	CN169374 not specified;
NM_000051.4(ATM):c.5763-11T>C	472	ATM	Likely benign	1057520675	RCV000424227\|RCV002061649;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180876	108180876	11:g.108180876T>C	ClinGen:CA16606198	CN169374 not specified;
NC_000011.9:g.(?_108180877)_(108181052_?)del	472	ATM	Pathogenic	-1	RCV001938622;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180877	108181052	-1	-
NM_000051.4(ATM):c.5763-8T>G	472	ATM	Likely benign	2136010657	RCV001462717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180879	108180879	108180879	-
NM_000051.4(ATM):c.5763-7T>C	472	ATM	Likely benign	1555110216	RCV000628281\|RCV001538736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108180880	108180880	11:g.108180880T>C	ClinGen:CA658797760	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5763-5T>C	472	ATM	Conflicting interpretations of pathogenicity	1555110219	RCV000561688\|RCV002060455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180882	108180882	NC_000011.9:g.108180882T>C	ClinGen:CA658656269	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5763-2A>T	472	ATM	Pathogenic/Likely pathogenic	876659489	RCV000410861\|RCV000523412\|RCV001525392\|RCV003470346;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180885	108180885	NC_000011.9:g.108180885A>T	ClinGen:CA16041419	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5763-2A>G	472	ATM	Likely pathogenic	876659489	RCV000569324\|RCV001865741;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180885	108180885	NC_000011.9:g.108180885A>G	ClinGen:CA382548271	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5763-1G>A	472	ATM	Likely pathogenic	2136011029	RCV001975816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180886	108180886	108180886	-
NM_000051.4(ATM):c.5763A>G (p.Arg1921=)	472	ATM	Conflicting interpretations of pathogenicity	1057523784	RCV000426699\|RCV000534248\|RCV001024499;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180887	108180887		ClinGen:CA16606104	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5764C>T (p.Pro1922Ser)	472	ATM	Uncertain significance	587781865	RCV000130181\|RCV000456675\|RCV000485509\|RCV001818309;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108180888	108180888	11:g.108180888C>T	ClinGen:CA165894	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5765del (p.Pro1922fs)	472	ATM	Pathogenic	786202814	RCV000165828\|RCV001850326;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180888	108180888	11:g.108180888_108180888del	ClinGen:CA194287	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5764C>A (p.Pro1922Thr)	472	ATM	Uncertain significance	587781865	RCV002352681\|RCV002005028;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180888	108180888	108180888	-
NM_000051.4(ATM):c.5765C>A (p.Pro1922His)	472	ATM	Uncertain significance	751792004	RCV000216727\|RCV000812353;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180889	108180889	11:g.108180889C>A	ClinGen:CA6265783	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5766TTC[1] (p.Ser1924del)	472	ATM	Conflicting interpretations of pathogenicity	866749094	RCV000479250\|RCV000690169\|RCV001180122\|RCV003327405;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180889	108180891	NC_000011.9:g.108180890TTC[1]	ClinGen:CA16619204	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5766T>C (p.Pro1922=)	472	ATM	Likely benign	2084022090	RCV002168058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180890	108180890		-
NM_000051.4(ATM):c.5769T>C (p.Ser1923=)	472	ATM	Likely benign	1060504280	RCV000459706\|RCV001024504\|RCV001194299;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108180893	108180893		ClinGen:CA16613080	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5771C>T (p.Ser1924Leu)	472	ATM	Uncertain significance	876658831	RCV000223352\|RCV000700558;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180895	108180895	11:g.108180895C>T	ClinGen:CA10579196	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5771C>A (p.Ser1924Ter)	472	ATM	Pathogenic	876658831	RCV000493183\|RCV001045119\|RCV003470608;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180895	108180895	11:g.108180895C>A	ClinGen:CA382548290	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5772A>G (p.Ser1924=)	472	ATM	Likely benign	-1	RCV002585155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180896	108180896		-
NM_000051.4(ATM):c.5773G>A (p.Gly1925Arg)	472	ATM	Uncertain significance	1591745423	RCV001024514\|RCV001223920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180897	108180897	11:g.108180897G>A	-
NM_000051.4(ATM):c.5774G>A (p.Gly1925Glu)	472	ATM	Uncertain significance	755055090	RCV000222419\|RCV000812354;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180898	108180898	11:g.108180898G>A	ClinGen:CA6265784	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5774G>C (p.Gly1925Ala)	472	ATM	Uncertain significance	755055090	RCV001185171\|RCV001876170;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180898	108180898	11:g.108180898G>C	-
NM_000051.4(ATM):c.5776_5790del (p.Thr1926_Asp1930del)	472	ATM	Uncertain significance	786203678	RCV000167089\|RCV000479774\|RCV000628086;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180900	108180914	11:g.108180900_108180914del	ClinGen:CA197466	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5776A>G (p.Thr1926Ala)	472	ATM	Uncertain significance	781448339	RCV000232740\|RCV000573054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180900	108180900	NC_000011.9:g.108180900A>G	ClinGen:CA6265785	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5777C>T (p.Thr1926Ile)	472	ATM	Uncertain significance	876660944	RCV000219697\|RCV001311788\|RCV001371515;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180901	108180901	11:g.108180901C>T	ClinGen:CA10579197	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5777C>A (p.Thr1926Lys)	472	ATM	Uncertain significance	876660944	RCV001035593;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180901	108180901	11:g.108180901C>A	-
NM_000051.4(ATM):c.5779A>G (p.Ile1927Val)	472	ATM	Conflicting interpretations of pathogenicity	753218533	RCV001295172\|RCV002357079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180903	108180903	108180903	-
NM_000051.4(ATM):c.5783T>G (p.Phe1928Cys)	472	ATM	Uncertain significance	2136012463	RCV001891669;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180907	108180907	108180907	-
NM_000051.4(ATM):c.5784T>A (p.Phe1928Leu)	472	ATM	Uncertain significance	1290871799	RCV000564079\|RCV001050289;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180908	108180908	NC_000011.9:g.108180908T>A	ClinGen:CA382548313	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5784T>C (p.Phe1928=)	472	ATM	Likely benign	1290871799	RCV001024528\|RCV001487774;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180908	108180908		-
NM_000051.4(ATM):c.5786A>T (p.Asn1929Ile)	472	ATM	Uncertain significance	756661278	RCV001233055\|RCV002357002;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180910	108180910	11:g.108180910A>T	-
NM_000051.4(ATM):c.5787T>C (p.Asn1929=)	472	ATM	Likely benign	1057520448	RCV000441154\|RCV002521548;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180911	108180911		ClinGen:CA16606107	CN169374 not specified;
NM_000051.4(ATM):c.5789A>T (p.Asp1930Val)	472	ATM	Uncertain significance	-1	RCV002715515;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180913	108180913	NC_000011.9:g.108180913A>T	-
NM_000051.4(ATM):c.5790T>C (p.Asp1930=)	472	ATM	Likely benign	1555110279	RCV000570863\|RCV002060450;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180914	108180914		ClinGen:CA476675448	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5791delinsCCT (p.Ala1931fs)	472	ATM	Pathogenic/Likely pathogenic	587779851	RCV000115216\|RCV000235106\|RCV000409117\|RCV003460807;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180915	108180915	NC_000011.9:g.108180915delinsCCT	ClinGen:CA286903	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5791G>A (p.Ala1931Thr)	472	ATM	Uncertain significance	2136012919	RCV001371408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180915	108180915	108180915	-
NM_000051.4(ATM):c.5792C>T (p.Ala1931Val)	472	ATM	Uncertain significance	1243690083	RCV000692284\|RCV001771956\|RCV001024533;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180916	108180916	11:g.108180916C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5794T>C (p.Phe1932Leu)	472	ATM	Uncertain significance	2084025775	RCV001236395\|RCV001760250;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108180918	108180918	11:g.108180918T>C	-
NM_000051.4(ATM):c.5794T>A (p.Phe1932Ile)	472	ATM	Uncertain significance	-1	RCV002653847;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180918	108180918	NC_000011.9:g.108180918T>A	-
NM_000051.4(ATM):c.5795T>G (p.Phe1932Cys)	472	ATM	Uncertain significance	1591745679	RCV001024535\|RCV001346538;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180919	108180919	11:g.108180919T>G	-
NM_000051.4(ATM):c.5798G>A (p.Trp1933Ter)	472	ATM	Pathogenic/Likely pathogenic	876658740	RCV000218884\|RCV000409971\|RCV000627198\|RCV003469013;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180922	108180922	11:g.108180922G>A	ClinGen:CA10579198	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5799G>C (p.Trp1933Cys)	472	ATM	Uncertain significance	2084026241	RCV001059049;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180923	108180923	11:g.108180923G>C	-
NM_000051.4(ATM):c.5799G>T (p.Trp1933Cys)	472	ATM	Uncertain significance	2084026241	RCV001932198;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180923	108180923	108180923	-
NM_000051.4(ATM):c.5799G>A (p.Trp1933Ter)	472	ATM	Pathogenic	2084026241	RCV001944341;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180923	108180923	108180923	-
NM_000051.4(ATM):c.5800C>A (p.Leu1934Met)	472	ATM	Uncertain significance	2084026395	RCV001346490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180924	108180924	108180924	-
NM_000051.4(ATM):c.5800C>T (p.Leu1934=)	472	ATM	Likely benign	-1	RCV003036483;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180924	108180924		-
NM_000051.4(ATM):c.5802G>A (p.Leu1934=)	472	ATM	Uncertain significance	-1	RCV002917971;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180926	108180926		-
NM_000051.4(ATM):c.5803G>A (p.Asp1935Asn)	472	ATM	Uncertain significance	1299051422	RCV000802728;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180927	108180927	11:g.108180927G>A	-
NM_000051.4(ATM):c.5803G>T (p.Asp1935Tyr)	472	ATM	Uncertain significance	-1	RCV002295125\|RCV002352977;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180927	108180927	108180927	-
NM_000051.4(ATM):c.5805_5815delinsATT (p.Asp1935fs)	472	ATM	Pathogenic	1591745745	RCV000801603\|RCV002352364;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180929	108180939	11:g.108180930_108180939del	-
NM_000051.4(ATM):c.5805_5812del (p.Asp1935fs)	472	ATM	Pathogenic	2136013815	RCV001382461;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180929	108180936	108180928	-
NM_000051.4(ATM):c.5809_5813del (p.Asn1937fs)	472	ATM	Pathogenic	-1	RCV002359931\|RCV003096882\|RCV003464471;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180930	108180934	108180929	-
NM_000051.4(ATM):c.5809A>G (p.Asn1937Asp)	472	ATM	Uncertain significance	2136013971	RCV001920943;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180933	108180933	108180933	-
NM_000051.4(ATM):c.5810A>G (p.Asn1937Ser)	472	ATM	Uncertain significance	1555110330	RCV000669608\|RCV000773766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180934	108180934	11:g.108180934A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5812T>A (p.Tyr1938Asn)	472	ATM	Uncertain significance	786203668	RCV000167079\|RCV000691868\|RCV003462233;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180936	108180936	11:g.108180936T>A	ClinGen:CA197442	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5815C>T (p.Leu1939=)	472	ATM	Likely benign	2136014129	RCV001481676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180939	108180939		-
NM_000051.4(ATM):c.5816T>G (p.Leu1939Arg)	472	ATM	Uncertain significance	1555110340	RCV002030810;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180940	108180940	108180940	-
NM_000051.4(ATM):c.5817A>G (p.Leu1939=)	472	ATM	Likely benign	749652134	RCV000628226\|RCV001186040;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180941	108180941		ClinGen:CA6265788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5818G>A (p.Glu1940Lys)	472	ATM	Uncertain significance	2084028082	RCV001327783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180942	108180942	108180942	-
NM_000051.4(ATM):c.5820A>C (p.Glu1940Asp)	472	ATM	Uncertain significance	2084028240	RCV001190519\|RCV001295904\|RCV003227928;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108180944	108180944	11:g.108180944A>C	-
NM_000051.4(ATM):c.5820A>G (p.Glu1940=)	472	ATM	Likely benign	2084028240	RCV001446327;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180944	108180944		-
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu)	472	ATM	Conflicting interpretations of pathogenicity	147187700	RCV000115217\|RCV000167876\|RCV000223979\|RCV000515219\|RCV000780923\|RCV001293033\|RCV003149795;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108180945	108180945	NC_000011.9:g.108180945G>C	ClinGen:CA286904	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5821G>T (p.Val1941Phe)	472	ATM	Uncertain significance	147187700	RCV000792443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180945	108180945	11:g.108180945G>T	-
NM_000051.4(ATM):c.5822T>G (p.Val1941Gly)	472	ATM	Uncertain significance	876660334	RCV000213539\|RCV000679130\|RCV000803488;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180946	108180946	11:g.108180946T>G	ClinGen:CA10579199	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5824G>T (p.Ala1942Ser)	472	ATM	Uncertain significance	1286443989	RCV000551414\|RCV000561691;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180948	108180948	11:g.108180948G>T	ClinGen:CA382548406	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5824G>A (p.Ala1942Thr)	472	ATM	Uncertain significance	1286443989	RCV001891990\|RCV002359341;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180948	108180948	108180948	-
NM_000051.4(ATM):c.5825C>T (p.Ala1942Val)	472	ATM	Conflicting interpretations of pathogenicity	730881394	RCV000159768\|RCV000218056\|RCV000463126\|RCV003462077;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180949	108180949	NC_000011.9:g.108180949C>T	ClinGen:CA298365	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5827A>G (p.Lys1943Glu)	472	ATM	Uncertain significance	779692309	RCV001058829\|RCV002355058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180951	108180951	11:g.108180951A>G	-
NM_000051.4(ATM):c.5828A>G (p.Lys1943Arg)	472	ATM	Uncertain significance	746676271	RCV000627860\|RCV001189478;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180952	108180952	NC_000011.9:g.108180952A>G	ClinGen:CA6265790	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5828A>C (p.Lys1943Thr)	472	ATM	Uncertain significance	746676271	RCV002049551;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180952	108180952	108180952	-
NM_000051.4(ATM):c.5829G>A (p.Lys1943=)	472	ATM	Likely benign	-1	RCV003039643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180953	108180953		-
NM_000051.4(ATM):c.5830G>C (p.Val1944Leu)	472	ATM	Uncertain significance	1555110379	RCV000576073\|RCV001221149\|RCV003465218\|RCV003328605;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108180954	108180954	NC_000011.9:g.108180954G>C	ClinGen:CA382548416	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5834C>T (p.Ala1945Val)	472	ATM	Uncertain significance	1356309376	RCV001242550\|RCV002357036;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180958	108180958	11:g.108180958C>T	-
NM_000051.4(ATM):c.5835T>G (p.Ala1945=)	472	ATM	Likely benign	768106055	RCV000584257\|RCV000628229;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180959	108180959		ClinGen:CA6265791	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5836_5837del (p.Gln1946fs)	472	ATM	Pathogenic	2084030667	RCV001228184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180960	108180961	11:g.108180960_108180961del	-
NM_000051.4(ATM):c.5838G>T (p.Gln1946His)	472	ATM	Uncertain significance	1060501612	RCV000463170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180962	108180962	NC_000011.9:g.108180962G>T	ClinGen:CA16613389	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5839del (p.Ser1947fs)	472	ATM	Pathogenic	2136015541	RCV001953688\|RCV003316857;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180963	108180963	108180962	-
NM_000051.4(ATM):c.5840C>A (p.Ser1947Tyr)	472	ATM	Uncertain significance	1555110399	RCV000565676\|RCV001858240;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180964	108180964	NC_000011.9:g.108180964C>A	ClinGen:CA382548437	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5840C>T (p.Ser1947Phe)	472	ATM	Uncertain significance	-1	RCV002353287\|RCV003096891;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180964	108180964	108180964	-
NM_000051.4(ATM):c.5844T>C (p.Cys1948=)	472	ATM	Likely benign	776150043	RCV000215605\|RCV001488128;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180968	108180968		ClinGen:CA6265792
NM_000051.4(ATM):c.5845G>T (p.Ala1949Ser)	472	ATM	Uncertain significance	1555110401	RCV000628107;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180969	108180969	11:g.108180969G>T	ClinGen:CA382548450	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5845G>A (p.Ala1949Thr)	472	ATM	Uncertain significance	1555110401	RCV001236991;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180969	108180969	11:g.108180969G>A	-
NM_000051.4(ATM):c.5848G>A (p.Ala1950Thr)	472	ATM	Uncertain significance	1591746066	RCV001024596\|RCV001327525;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180972	108180972	11:g.108180972G>A	-
NM_000051.4(ATM):c.5855_5856insCACAGCTTTACTCACTT (p.Tyr1957fs)	472	ATM	Pathogenic	2136016053	RCV001388932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180972	108180973	108180972	-
NM_000051.4(ATM):c.5849C>A (p.Ala1950Asp)	472	ATM	Uncertain significance	1591746083	RCV002000961;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180973	108180973	108180973	-
NM_000051.4(ATM):c.5851C>G (p.His1951Asp)	472	ATM	Uncertain significance	1060501673	RCV000477180;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180975	108180975	NC_000011.9:g.108180975C>G	ClinGen:CA16613390	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5852A>C (p.His1951Pro)	472	ATM	Uncertain significance	1164569755	RCV000773833\|RCV001830666;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180976	108180976	NC_000011.9:g.108180976A>C	-
NM_000051.4(ATM):c.5854T>A (p.Phe1952Ile)	472	ATM	Uncertain significance	1555110421	RCV000568976\|RCV000627998;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180978	108180978	NC_000011.9:g.108180978T>A	ClinGen:CA382548468	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5856T>C (p.Phe1952=)	472	ATM	Likely benign	864622297	RCV000205224\|RCV000220435;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180980	108180980		ClinGen:CA349409	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5857A>G (p.Thr1953Ala)	472	ATM	Uncertain significance	2084033441	RCV001219329\|RCV002356937;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180981	108180981	11:g.108180981A>G	-
NM_000051.4(ATM):c.5858C>T (p.Thr1953Ile)	472	ATM	Conflicting interpretations of pathogenicity	587781963	RCV000130342\|RCV001242207\|RCV001731388;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108180982	108180982	11:g.108180982C>T	ClinGen:CA166228	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5858C>G (p.Thr1953Arg)	472	ATM	Uncertain significance	587781963	RCV000688679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180982	108180982	11:g.108180982C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5858C>A (p.Thr1953Lys)	472	ATM	Uncertain significance	-1	RCV002301993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180982	108180982	108180982	-
NM_000051.4(ATM):c.5859A>G (p.Thr1953=)	472	ATM	Likely benign	1555110429	RCV000583162\|RCV002060614;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180983	108180983		ClinGen:CA476675491	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5861C>G (p.Ala1954Gly)	472	ATM	Uncertain significance	1565489916	RCV000679131\|RCV001071646\|RCV001178886;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180985	108180985	NC_000011.9:g.108180985C>G	-	CN517202 not provided;
NM_000051.4(ATM):c.5865A>G (p.Leu1955=)	472	ATM	Likely benign	1555110432	RCV000628245\|RCV001193667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108180989	108180989		ClinGen:CA476675497	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5865A>C (p.Leu1955Phe)	472	ATM	Uncertain significance	-1	RCV003028317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180989	108180989	NC_000011.9:g.108180989A>C	-
NM_000051.4(ATM):c.5866C>T (p.Leu1956Phe)	472	ATM	Uncertain significance	1565489956	RCV000773557\|RCV000807520\|RCV001262806\|RCV003442062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108180990	108180990	NC_000011.9:g.108180990C>T	-
NM_000051.4(ATM):c.5867T>A (p.Leu1956His)	472	ATM	Uncertain significance	876658989	RCV000221145\|RCV000467597;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180991	108180991	11:g.108180991T>A	ClinGen:CA10579200	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5868C>T (p.Leu1956=)	472	ATM	Likely benign	540054724	RCV000526162\|RCV000561828\|RCV002497037\|RCV003320470;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Me	11	108180992	108180992		ClinGen:CA6265793
NM_000051.4(ATM):c.5868C>G (p.Leu1956=)	472	ATM	Conflicting interpretations of pathogenicity	540054724	RCV001350963\|RCV002357205;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180992	108180992		-
NM_000051.4(ATM):c.5870_5871del (p.Tyr1957fs)	472	ATM	Pathogenic	1060501657	RCV000466890\|RCV000575156;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180993	108180994	NC_000011.9:g.108180994_108180995del	ClinGen:CA16613082	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5870A>G (p.Tyr1957Cys)	472	ATM	Uncertain significance	1591746364	RCV001916649\|RCV003471061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108180994	108180994	108180994	-
NM_000051.4(ATM):c.5871T>C (p.Tyr1957=)	472	ATM	Likely benign	2136017191	RCV001392791\|RCV002357300;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108180995	108180995		-
NM_000051.4(ATM):c.5873C>T (p.Ala1958Val)	472	ATM	Uncertain significance	2136017305	RCV001805328\|RCV001869535;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180997	108180997	108180997	-
NM_000051.4(ATM):c.5874A>G (p.Ala1958=)	472	ATM	Likely benign	1591746375	RCV001024629\|RCV001192368\|RCV001427974;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108180998	108180998		-
NM_000051.4(ATM):c.5876A>G (p.Glu1959Gly)	472	ATM	Uncertain significance	876660515	RCV000213491\|RCV001051760\|RCV003153511;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108181000	108181000	11:g.108181000A>G	ClinGen:CA10579201	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5879T>A (p.Ile1960Asn)	472	ATM	Uncertain significance	587782503	RCV000131643\|RCV000538731;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181003	108181003	11:g.108181003T>A	ClinGen:CA168524	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys)	472	ATM	Conflicting interpretations of pathogenicity	56399311	RCV000115218\|RCV000195828\|RCV000589184\|RCV000763707\|RCV001263508\|RCV001799619\|RCV003237337;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108181006	108181006	NC_000011.9:g.108181006A>G	ClinGen:CA286907,UniProtKB:Q13315#VAR_041570	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5886A>G (p.Ala1962=)	472	ATM	Likely benign	1057522876	RCV000432740\|RCV000555609\|RCV002356590;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108181010	108181010		ClinGen:CA16606831	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5887G>A (p.Asp1963Asn)	472	ATM	Uncertain significance	864622148	RCV000205605\|RCV000213553\|RCV002472968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108181011	108181011	NC_000011.9:g.108181011G>A	ClinGen:CA349731	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5887G>C (p.Asp1963His)	472	ATM	Uncertain significance	864622148	RCV002027216\|RCV002352754;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108181011	108181011	108181011	-
NM_000051.4(ATM):c.5887del (p.Asp1963fs)	472	ATM	Pathogenic	-1	RCV003055366;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181011	108181011	NC_000011.9:g.108181011del	-
NM_000051.4(ATM):c.5888A>G (p.Asp1963Gly)	472	ATM	Conflicting interpretations of pathogenicity	1555110484	RCV000561373\|RCV000685483;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181012	108181012	NC_000011.9:g.108181012A>G	ClinGen:CA382548540	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5889dup (p.Lys1964Ter)	472	ATM	Pathogenic	2136018060	RCV001946653;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181012	108181013	108181012	-
NM_000051.4(ATM):c.5889T>C (p.Asp1963=)	472	ATM	Likely benign	1555110490	RCV000567700\|RCV000942813;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181013	108181013		ClinGen:CA476675510	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5893_5897del (p.Lys1965fs)	472	ATM	Pathogenic	587781727	RCV000129915\|RCV001389167\|RCV003162576\|RCV003460907;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:0016419,MedGen:C03	11	108181014	108181018	11:g.108181014_108181018del	ClinGen:CA165350	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu)	472	ATM	Conflicting interpretations of pathogenicity	201963507	RCV000130965\|RCV000197688\|RCV000212034\|RCV000515322\|RCV001269498\|RCV001357333\|RCV002288644\|RCV003415955\|RCV003390822;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108181014	108181014	11:g.108181014A>G	ClinGen:CA294264	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5890A>T (p.Lys1964Ter)	472	ATM	Pathogenic/Likely pathogenic	201963507	RCV000159769\|RCV000206728\|RCV000570753\|RCV003467244;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108181014	108181014	NC_000011.9:g.108181014A>T	ClinGen:CA298368	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5892_5894del (p.Lys1965del)	472	ATM	Uncertain significance	2084037387	RCV001037292;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181014	108181016	11:g.108181014_108181016del	-
NM_000051.4(ATM):c.5891A>G (p.Lys1964Arg)	472	ATM	Uncertain significance	1555110503	RCV000527186\|RCV002358422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108181015	108181015	11:g.108181015A>G	ClinGen:CA382548546	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5892G>C (p.Lys1964Asn)	472	ATM	Conflicting interpretations of pathogenicity	786202728	RCV000165684\|RCV000628179\|RCV000844955;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108181016	108181016	11:g.108181016G>C	ClinGen:CA193985	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5896dup (p.Ser1966fs)	472	ATM	Likely pathogenic	1555110514	RCV000666734;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181016	108181017	11:g.108181016_108181017insA	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5894_5900dup (p.Met1967fs)	472	ATM	Pathogenic/Likely pathogenic	1555110517	RCV000479472\|RCV000583009\|RCV001037468;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181017	108181018	NC_000011.9:g.108181018_108181024dup	ClinGen:CA16619205	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5895A>T (p.Lys1965Asn)	472	ATM	Uncertain significance	1565490147	RCV001187936\|RCV000699860\|RCV003465612;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108181019	108181019	11:g.108181019A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5895A>G (p.Lys1965=)	472	ATM	Likely benign	1565490147	RCV001406538\|RCV003307771;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108181019	108181019		-
NM_000051.4(ATM):c.5897G>A (p.Ser1966Asn)	472	ATM	Conflicting interpretations of pathogenicity	1555110520	RCV000584470\|RCV000812625;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181021	108181021	NC_000011.9:g.108181021G>A	ClinGen:CA382548560	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5899A>G (p.Met1967Val)	472	ATM	Uncertain significance	1060501541	RCV000474021\|RCV000582399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108181023	108181023	NC_000011.9:g.108181023A>G	ClinGen:CA16613393	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5901G>A (p.Met1967Ile)	472	ATM	Uncertain significance	2136018731	RCV001985987;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181025	108181025	108181025	-
NM_000051.3(ATM):c.5902_5903insSVAelement	472	ATM	Pathogenic	2084039379	RCV000817605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181026	108181027		-
NM_000051.4(ATM):c.5903A>G (p.Asp1968Gly)	472	ATM	Uncertain significance	2136018837	RCV001370675;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181027	108181027	108181027	-
NM_000051.4(ATM):c.5905G>T (p.Asp1969Tyr)	472	ATM	Uncertain significance	1156785681	RCV001917266;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181029	108181029	108181029	-
NM_000051.4(ATM):c.5906A>C (p.Asp1969Ala)	472	ATM	Uncertain significance	-1	RCV002297449;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181030	108181030	108181030	-
NM_000051.4(ATM):c.5908C>T (p.Gln1970Ter)	472	ATM	Pathogenic	587781722	RCV000129909\|RCV000200350\|RCV000235704\|RCV000762823\|RCV001258121\|RCV003460905;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108181032	108181032	11:g.108181032C>T	ClinGen:CA165332	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5910del (p.Glu1971fs)	472	ATM	Pathogenic/Likely pathogenic	587782198	RCV000130858\|RCV000480849\|RCV000576813\|RCV003467157;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108181033	108181033	11:g.108181033_108181033del	ClinGen:CA167261	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5909A>G (p.Gln1970Arg)	472	ATM	Uncertain significance	1555110568	RCV000539494\|RCV000777005\|RCV003470675;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108181033	108181033	11:g.108181033A>G	ClinGen:CA382548592	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5910A>G (p.Gln1970=)	472	ATM	Likely benign	-1	RCV002606662;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181034	108181034		-
NM_000051.4(ATM):c.5912A>T (p.Glu1971Val)	472	ATM	Uncertain significance	1565490253	RCV000693677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181036	108181036	11:g.108181036A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5913G>T (p.Glu1971Asp)	472	ATM	Uncertain significance	2084040593	RCV001297783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181037	108181037	108181037	-
NM_000051.4(ATM):c.5914A>G (p.Lys1972Glu)	472	ATM	Uncertain significance	1060501652	RCV000461483\|RCV000574705\|RCV000587661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108181038	108181038	NC_000011.9:g.108181038A>G	ClinGen:CA16613395	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5916_5917del (p.Arg1973fs)	472	ATM	Pathogenic	2084040947	RCV001205691\|RCV002356881;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108181038	108181039	11:g.108181038_108181039del	-
NM_000051.4(ATM):c.5915A>C (p.Lys1972Thr)	472	ATM	Uncertain significance	730881377	RCV000159739\|RCV000221677\|RCV000794749\|RCV003387776;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108181039	108181039	NC_000011.9:g.108181039A>C	ClinGen:CA298287	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5916A>G (p.Lys1972=)	472	ATM	Likely benign	2136019609	RCV001490729;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181040	108181040		-
NM_000051.4(ATM):c.5917A>G (p.Arg1973Gly)	472	ATM	Uncertain significance	786202089	RCV000164728\|RCV000227713\|RCV000481261\|RCV003468721;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108181041	108181041	11:g.108181041A>G	ClinGen:CA191653	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5917A>C (p.Arg1973=)	472	ATM	Conflicting interpretations of pathogenicity	786202089	RCV001185816\|RCV002559091;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181041	108181041		-
NM_000051.4(ATM):c.5918G>A (p.Arg1973Lys)	472	ATM	Conflicting interpretations of pathogenicity	1555110591	RCV000566553\|RCV000627987\|RCV003465193;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108181042	108181042	NC_000011.9:g.108181042G>A	ClinGen:CA382548611	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5918+1G>A	472	ATM	Likely pathogenic	1591746871	RCV000818081\|RCV002352441;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108181043	108181043	11:g.108181043G>A	-
NM_000051.4(ATM):c.5918+1G>T	472	ATM	Likely pathogenic	1591746871	RCV001024681\|RCV001377099;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181043	108181043	11:g.108181043G>T	-
NM_000051.4(ATM):c.5918+2T>A	472	ATM	Likely pathogenic	-1	RCV003103155\|RCV003164570;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108181044	108181044	NC_000011.9:g.108181044T>A	-
NM_000051.4(ATM):c.5918+3A>G	472	ATM	Uncertain significance	1555110595	RCV000552106\|RCV001357163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108181045	108181045	11:g.108181045A>G	ClinGen:CA658656169	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5918+6G>A	472	ATM	Uncertain significance	2084041898	RCV001228170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181048	108181048	11:g.108181048G>A	-
NM_000051.4(ATM):c.5918+7del	472	ATM	Likely benign	2136020073	RCV002077423;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181048	108181048	108181047	-
NM_000051.4(ATM):c.5918+7G>A	472	ATM	Likely benign	1423323603	RCV000582298\|RCV001424873;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181049	108181049	NC_000011.9:g.108181049G>A	ClinGen:CA601723864	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5918+7G>C	472	ATM	Likely benign	1423323603	RCV002216239;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181049	108181049	108181049	-
NM_000051.4(ATM):c.5918+8A>C	472	ATM	Likely benign	1401825950	RCV000532576\|RCV000583702;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108181050	108181050	11:g.108181050A>C	ClinGen:CA601723866	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5918+12T>C	472	ATM	Likely benign	2084042843	RCV001185164\|RCV002068405;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181054	108181054	11:g.108181054T>C	-
NM_000051.4(ATM):c.5918+13A>C	472	ATM	Likely benign	-1	RCV003017234;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181055	108181055	NC_000011.9:g.108181055A>C	-
NM_000051.4(ATM):c.5918+16A>G	472	ATM	Likely benign	3092911	RCV000428544\|RCV000581286\|RCV000672586;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181058	108181058	11:g.108181058A>G	ClinGen:CA6265794	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5918+21del	472	ATM	Benign	1350577892	RCV002122861;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181059	108181059	108181058	-
NM_000051.4(ATM):c.5918+17T>G	472	ATM	Likely benign	2136020727	RCV002148118;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181059	108181059	108181059	-
NM_000051.4(ATM):c.5918+18T>G	472	ATM	Likely benign	-1	RCV003081576;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108181060	108181060	NC_000011.9:g.108181060T>G	-
NM_000051.4(ATM):c.5918+72A>G	472	ATM	Benign/Likely benign	3218694	RCV000208926\|RCV001521503\|RCV001528368\|RCV001725138;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108181114	108181114	11:g.108181114A>G	ClinGen:CA212327	C0027672 Hereditary cancer-predisposing syndrome;
NC_000011.9:g.(?_108183089)_(108186850_?)del	472	ATM	Pathogenic	-1	RCV001953512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183089	108186850	-1	-
NM_000051.4(ATM):c.5919-49C>T	472	ATM	Likely benign	2084236076	RCV002213478;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183089	108183089	108183089	-
NC_000011.9:g.(?_108183089)_(108225611_?)dup	472	ATM	Likely pathogenic	-1	RCV003119170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183089	108225611		-
NM_000051.4(ATM):c.5919-20G>T	472	ATM	Uncertain significance	-1	RCV002852315;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183118	108183118	NC_000011.9:g.108183118G>T	-
NM_000051.4(ATM):c.5919-18_5919-15dup	472	ATM	Likely benign	2136057696	RCV002164129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183119	108183120	108183119	-
NM_000051.4(ATM):c.5919-19G>A	472	ATM	Likely benign	1679583556	RCV002083767;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183119	108183119	108183119	-
NM_000051.4(ATM):c.5919-13T>C	472	ATM	Conflicting interpretations of pathogenicity	1555111740	RCV001525232\|RCV001821736\|RCV002062995;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183125	108183125	11:g.108183125T>C	ClinGen:CA658797761	CN169374 not specified;
NM_000051.4(ATM):c.5919-11G>A	472	ATM	Likely benign	1555111746	RCV000581152\|RCV002529192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183127	108183127	11:g.108183127G>A	ClinGen:CA658683700	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5919-11G>C	472	ATM	Likely benign	-1	RCV003030154;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183127	108183127	NC_000011.9:g.108183127G>C	-
NM_000051.4(ATM):c.5919-8A>G	472	ATM	Likely benign	1176654682	RCV000584075\|RCV000937254;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183130	108183130	11:g.108183130A>G	ClinGen:CA601724120	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5919-7_5919-6insCTGT	472	ATM	Likely benign	1239985928	RCV002215929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183131	108183132	108183131	-
NM_001330368.2(C11orf65):c.641-3340_641-3338dup	472	ATM	Uncertain significance	-1	RCV002894031;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183135	108183136	NC_000011.9:g.108183138_108183140dup	-
NM_000051.4(ATM):c.5919-2A>G	472	ATM	Likely pathogenic	746623393	RCV000216360\|RCV000665828\|RCV003468989;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183136	108183136	11:g.108183136A>G	ClinGen:CA6265805	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5919-2A>C	472	ATM	Likely pathogenic	746623393	RCV000672955;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183136	108183136	11:g.108183136A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5921G>A (p.Ser1974Asn)	472	ATM	Uncertain significance	2084241093	RCV001320082;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183140	108183140	108183140	-
NM_000051.4(ATM):c.5923C>A (p.Leu1975Ile)	472	ATM	Uncertain significance	2084241290	RCV001225537;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183142	108183142	11:g.108183142C>A	-
NM_000051.4(ATM):c.5926G>A (p.Ala1976Thr)	472	ATM	Conflicting interpretations of pathogenicity	2084241683	RCV001187207\|RCV001342451;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183145	108183145	11:g.108183145G>A	-
NM_000051.4(ATM):c.5926G>C (p.Ala1976Pro)	472	ATM	Uncertain significance	2084241683	RCV001899649;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183145	108183145	108183145	-
NM_000051.4(ATM):c.5927C>T (p.Ala1976Val)	472	ATM	Uncertain significance	1197973623	RCV000691802;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183146	108183146	11:g.108183146C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5927C>G (p.Ala1976Gly)	472	ATM	Uncertain significance	-1	RCV002757005;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183146	108183146	NC_000011.9:g.108183146C>G	-
NM_000051.4(ATM):c.5931del (p.Phe1977fs)	472	ATM	Pathogenic	1565493368	RCV000707637\|RCV001176891\|RCV001090514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108183148	108183148	NC_000011.9:g.108183150del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5930T>C (p.Phe1977Ser)	472	ATM	Uncertain significance	780867575	RCV000581541\|RCV000819757\|RCV003465302;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183149	108183149	11:g.108183149T>C	ClinGen:CA6265807	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5931T>A (p.Phe1977Leu)	472	ATM	Uncertain significance	2136059294	RCV001985934;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183150	108183150	108183150	-
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter)	472	ATM	Pathogenic	587779852	RCV000115219\|RCV000205725\|RCV000212035\|RCV000515323\|RCV001258122\|RCV001310112\|RCV001270929;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108183151	108183151	NC_000011.9:g.108183151G>T	ClinGen:CA286910	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5934A>C (p.Glu1978Asp)	472	ATM	Uncertain significance	945198632	RCV000564508\|RCV000628099\|RCV003320195;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108183153	108183153	NC_000011.9:g.108183153A>C	ClinGen:CA228398232	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5935G>T (p.Glu1979Ter)	472	ATM	Pathogenic/Likely pathogenic	1555111763	RCV000570576\|RCV001038293\|RCV003459343;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183154	108183154	NC_000011.9:g.108183154G>T	ClinGen:CA382548661	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5937A>G (p.Glu1979=)	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002355902\|RCV003098069;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183156	108183156		-
NM_000051.4(ATM):c.5938G>A (p.Gly1980Arg)	472	ATM	Uncertain significance	786203765	RCV000167212\|RCV000459904\|RCV001249858;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108183157	108183157	11:g.108183157G>A	ClinGen:CA197747	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5939del (p.Gly1980fs)	472	ATM	Pathogenic	-1	RCV002914811;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183157	108183157	NC_000011.9:g.108183158del	-
NM_000051.4(ATM):c.5943C>T (p.Ser1981=)	472	ATM	Likely benign	769252226	RCV000221812\|RCV002054984;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183162	108183162		ClinGen:CA6265808	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5944C>T (p.Gln1982Ter)	472	ATM	Pathogenic	1555111775	RCV000545189\|RCV003470676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183163	108183163	11:g.108183163C>T	ClinGen:CA382548683	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5945dup (p.Ser1983fs)	472	ATM	Pathogenic	2136060057	RCV001994838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183163	108183164	108183163	-
NM_000051.4(ATM):c.5945A>G (p.Gln1982Arg)	472	ATM	Uncertain significance	543980602	RCV000130454\|RCV000203883\|RCV000522109;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108183164	108183164	11:g.108183164A>G	ClinGen:CA166457	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5946G>A (p.Gln1982=)	472	ATM	Likely benign	1591758349	RCV001024710\|RCV002067677;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183165	108183165		-
NM_000051.4(ATM):c.5948= (p.Ser1983=)	472	ATM	Benign	659243	RCV000120149\|RCV000860159\|RCV001811978;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108183167	108183167		ClinGen:CA157144	CN169374 not specified;
NM_000051.4(ATM):c.5948G>A (p.Ser1983Asn)	472	ATM	Benign	659243	RCV000128947\|RCV000515610\|RCV002055841;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183167	108183167	11:g.108183167A>.	ClinGen:CA163561,UniProtKB:Q13315#VAR_041571	C0346153 114480 Familial cancer of breast;
NM_000051.4(ATM):c.5950A>T (p.Thr1984Ser)	472	ATM	Uncertain significance	1060501603	RCV000474790\|RCV000568406\|RCV001556379\|RCV003470421;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183169	108183169	NC_000011.9:g.108183169A>T	ClinGen:CA16613163	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5951C>G (p.Thr1984Arg)	472	ATM	Uncertain significance	770722380	RCV000230277\|RCV002354628;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183170	108183170	11:g.108183170C>G	ClinGen:CA10582834	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5951C>A (p.Thr1984Lys)	472	ATM	Uncertain significance	770722380	RCV001024718\|RCV001038934;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183170	108183170	11:g.108183170C>A	-
NM_000051.4(ATM):c.5954_5998dup (p.Ile1999_Ser2000insThrIleSerSerLeuSerGluLysSerLysGluGluThrGlyIle)	472	ATM	Uncertain significance	2136060457	RCV001370759;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183170	108183171	108183170	-
NM_000051.4(ATM):c.5953A>G (p.Thr1985Ala)	472	ATM	Uncertain significance	879254252	RCV000236411\|RCV000823004\|RCV001024719;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183172	108183172	NC_000011.9:g.108183172A>G	ClinGen:CA10584353	CN517202 not provided;
NM_000051.4(ATM):c.5954C>T (p.Thr1985Ile)	472	ATM	Uncertain significance	1207215818	RCV001343543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183173	108183173	108183173	-
NM_000051.4(ATM):c.5955T>C (p.Thr1985=)	472	ATM	Likely benign	1555111801	RCV000628252\|RCV000772469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183174	108183174		ClinGen:CA476675543	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5956A>G (p.Ile1986Val)	472	ATM	Conflicting interpretations of pathogenicity	876660935	RCV000222930\|RCV000234260\|RCV000235262;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108183175	108183175	11:g.108183175A>G	ClinGen:CA10579202	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5959dup (p.Ser1987fs)	472	ATM	Pathogenic	1555111808	RCV000570103\|RCV000657497\|RCV001381026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183175	108183176	NC_000011.9:g.108183178dup	ClinGen:CA658656172	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5959del (p.Ser1987fs)	472	ATM	Pathogenic	1555111808	RCV001386395;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183176	108183176	108183175	-
NM_000051.4(ATM):c.5957T>C (p.Ile1986Thr)	472	ATM	Uncertain significance	2084246805	RCV002013029;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183176	108183176	108183176	-
NM_000051.4(ATM):c.5958T>A (p.Ile1986=)	472	ATM	Likely benign	2136060867	RCV001454503;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183177	108183177		-
NM_000051.4(ATM):c.5961T>G (p.Ser1987=)	472	ATM	Benign/Likely benign	1060504265	RCV000465310\|RCV000575078\|RCV000589346\|RCV001598672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108183180	108183180		ClinGen:CA16613165	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5961T>C (p.Ser1987=)	472	ATM	Likely benign	1060504265	RCV000582578\|RCV001357613\|RCV001447253\|RCV001779018\|RCV002465726;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108183180	108183180		ClinGen:CA476675548	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5964C>G (p.Ser1988Arg)	472	ATM	Uncertain significance	774260725	RCV000460653;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183183	108183183	NC_000011.9:g.108183183C>G	ClinGen:CA16613397	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5964C>T (p.Ser1988=)	472	ATM	Likely benign	774260725	RCV000464958\|RCV000580569\|RCV001354792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108183183	108183183		ClinGen:CA6265810	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5966T>G (p.Leu1989Trp)	472	ATM	Uncertain significance	1565493603	RCV000709188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183185	108183185	NC_000011.9:g.108183185T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5967G>A (p.Leu1989=)	472	ATM	Likely benign	1555111833	RCV000581908\|RCV001493120;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183186	108183186		ClinGen:CA476675550
NM_000051.4(ATM):c.5968A>C (p.Ser1990Arg)	472	ATM	Uncertain significance	1275100503	RCV001024727\|RCV001203233;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183187	108183187	11:g.108183187A>C	-
NM_000051.4(ATM):c.5968A>G (p.Ser1990Gly)	472	ATM	Uncertain significance	-1	RCV002735290;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183187	108183187	NC_000011.9:g.108183187A>G	-
NM_000051.4(ATM):c.5971dup (p.Glu1991fs)	472	ATM	Pathogenic	1591758604	RCV000809444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183189	108183190	11:g.108183189_108183190insG	-
NM_000051.4(ATM):c.5970T>A (p.Ser1990Arg)	472	ATM	Uncertain significance	2084248780	RCV001070648;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183189	108183189	11:g.108183189T>A	-
NM_000051.4(ATM):c.5971G>A (p.Glu1991Lys)	472	ATM	Uncertain significance	786203404	RCV000166693\|RCV000235860\|RCV000464740\|RCV003462221;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183190	108183190	11:g.108183190G>A	ClinGen:CA196497	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5971G>T (p.Glu1991Ter)	472	ATM	Pathogenic	786203404	RCV000554055\|RCV000567120\|RCV000991562\|RCV003464123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183190	108183190	11:g.108183190G>T	ClinGen:CA382548737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5977_5978insAAAAAAAAA (p.Lys1992_Ser1993insLysLysLys)	472	ATM	Uncertain significance	1591758642	RCV000988700;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183190	108183191	11:g.108183190_108183191insAAAAAAAAA	-
NM_000051.4(ATM):c.5977dup (p.Ser1993fs)	472	ATM	Pathogenic/Likely pathogenic	1591758642	RCV002223067\|RCV003464407;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183190	108183191	108183190	-
NM_000051.4(ATM):c.5972A>G (p.Glu1991Gly)	472	ATM	Uncertain significance	866824608	RCV000694743\|RCV003344001;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183191	108183191	NC_000011.9:g.108183191A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5975_5977del (p.Lys1992del)	472	ATM	Uncertain significance	1591758642	RCV001871028;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183191	108183193	108183190	-
NM_000051.4(ATM):c.5973A>C (p.Glu1991Asp)	472	ATM	Uncertain significance	587782274	RCV000131129\|RCV000484990\|RCV001035231;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183192	108183192	11:g.108183192A>C	ClinGen:CA167651,UniProtKB:Q13315#VAR_041572	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr)	472	ATM	Conflicting interpretations of pathogenicity	150757822	RCV000115220\|RCV000122863\|RCV000212036\|RCV000515391\|RCV000588284\|RCV001358376;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108183194	108183194	NC_000011.9:g.108183194A>C	ClinGen:CA286913	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5979_5983del (p.Ser1993fs)	472	ATM	Pathogenic	876660134	RCV000219008\|RCV000459567;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183194	108183198	11:g.108183194_108183198del	ClinGen:CA6265811	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5975A>G (p.Lys1992Arg)	472	ATM	Uncertain significance	150757822	RCV000567274\|RCV001070859;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183194	108183194	NC_000011.9:g.108183194A>G	ClinGen:CA382548744	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5978_5981del (p.Ser1993fs)	472	ATM	Pathogenic/Likely pathogenic	2136061889	RCV001390534\|RCV002357297\|RCV003469775;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183195	108183198	108183194	-
NM_000051.4(ATM):c.5977A>C (p.Ser1993Arg)	472	ATM	Uncertain significance	1591758703	RCV000809445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183196	108183196	11:g.108183196A>C	-
NM_000051.4(ATM):c.5978G>T (p.Ser1993Ile)	472	ATM	Uncertain significance	1406659883	RCV001237399\|RCV002357017;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183197	108183197	11:g.108183197G>T	-
NM_000051.4(ATM):c.5978G>A (p.Ser1993Asn)	472	ATM	Uncertain significance	1406659883	RCV001316913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183197	108183197	108183197	-
NM_000051.4(ATM):c.5979T>C (p.Ser1993=)	472	ATM	Likely benign	1591758734	RCV001402419;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183198	108183198		-
NM_000051.4(ATM):c.5982del (p.Glu1995fs)	472	ATM	Pathogenic	1555111855	RCV000627913\|RCV000657276\|RCV001524358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183199	108183199	NC_000011.9:g.108183201del	ClinGen:CA658797724	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5980A>C (p.Lys1994Gln)	472	ATM	Uncertain significance	1565493693	RCV001337425;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183199	108183199	108183199	-
NM_000051.4(ATM):c.5980A>G (p.Lys1994Glu)	472	ATM	Uncertain significance	-1	RCV002303670\|RCV002352975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183199	108183199	108183199	-
NM_000051.4(ATM):c.5983GAA[1] (p.Glu1996del)	472	ATM	Uncertain significance	1555111872	RCV000628007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183200	108183202	11:g.108183200_108183202del	ClinGen:CA658797725	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5983G>A (p.Glu1995Lys)	472	ATM	Uncertain significance	1555111886	RCV000530220\|RCV000580251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183202	108183202	11:g.108183202G>A	ClinGen:CA382548764	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5985A>G (p.Glu1995=)	472	ATM	Likely benign	2084252730	RCV001450929\|RCV002359007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183204	108183204		-
NM_000051.4(ATM):c.5989A>C (p.Thr1997Pro)	472	ATM	Uncertain significance	1591758871	RCV001024754\|RCV001059538;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183208	108183208	11:g.108183208A>C	-
NM_000051.4(ATM):c.5990C>T (p.Thr1997Ile)	472	ATM	Uncertain significance	2084253742	RCV001303119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183209	108183209	108183209	-
NM_000051.4(ATM):c.5992_5993dup (p.Ile1999fs)	472	ATM	Pathogenic	2084254630	RCV001228690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183210	108183211	11:g.108183210_108183211insGG	-
NM_000051.4(ATM):c.5991T>G (p.Thr1997=)	472	ATM	Likely benign	-1	RCV003038655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183210	108183210		-
NM_000051.4(ATM):c.5993G>T (p.Gly1998Val)	472	ATM	Uncertain significance	1188125296	RCV000547084\|RCV000567681;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183212	108183212	11:g.108183212G>T	ClinGen:CA382548791	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5993G>A (p.Gly1998Glu)	472	ATM	Uncertain significance	1188125296	RCV001340900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183212	108183212	108183212	-
NM_000051.4(ATM):c.5994A>T (p.Gly1998=)	472	ATM	Conflicting interpretations of pathogenicity	56046250	RCV000580862\|RCV000807523\|RCV000829167;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108183213	108183213		ClinGen:CA6265812
NM_000051.4(ATM):c.5995A>G (p.Ile1999Val)	472	ATM	Uncertain significance	1201228506	RCV000567215\|RCV001206568;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183214	108183214	NC_000011.9:g.108183214A>G	ClinGen:CA382548793	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.5995A>C (p.Ile1999Leu)	472	ATM	Uncertain significance	1201228506	RCV001067545;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183214	108183214	11:g.108183214A>C	-
NM_000051.4(ATM):c.5996T>A (p.Ile1999Lys)	472	ATM	Uncertain significance	2136063107	RCV001908870\|RCV002359391\|RCV003464218;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183215	108183215	108183215	-
NM_000051.4(ATM):c.5999G>A (p.Ser2000Asn)	472	ATM	Uncertain significance	775921052	RCV000470652\|RCV001821249;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108183218	108183218	NC_000011.9:g.108183218G>A	ClinGen:CA6265813	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.5999G>T (p.Ser2000Ile)	472	ATM	Uncertain significance	775921052	RCV001239037\|RCV003166486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183218	108183218	11:g.108183218G>T	-
NM_000051.4(ATM):c.6002T>C (p.Leu2001Ser)	472	ATM	Uncertain significance	1555111910	RCV000572862\|RCV001361206;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183221	108183221	11:g.108183221T>C	ClinGen:CA382548809	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6003A>G (p.Leu2001=)	472	ATM	Likely benign	1057523413	RCV000444149\|RCV001024795\|RCV002522510;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183222	108183222		ClinGen:CA16606201	CN169374 not specified;
NM_000051.4(ATM):c.6004C>T (p.Gln2002Ter)	472	ATM	Pathogenic	201136510	RCV000771918\|RCV001045862;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183223	108183223	NC_000011.9:g.108183223C>T	-
NM_000051.4(ATM):c.6005A>G (p.Gln2002Arg)	472	ATM	Uncertain significance	1591759049	RCV001024797\|RCV001205393;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183224	108183224	11:g.108183224A>G	-
NM_000051.4(ATM):c.6006G>C (p.Gln2002His)	472	ATM	Uncertain significance	1591759073	RCV000818788;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183225	108183225	11:g.108183225G>C	-
NM_000051.4(ATM):c.6006G>A (p.Gln2002=)	472	ATM	Conflicting interpretations of pathogenicity	1591759073	RCV001024798\|RCV001066030;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183225	108183225		-
NM_000051.4(ATM):c.6006+1G>A	472	ATM	Pathogenic/Likely pathogenic	786202016	RCV000164608\|RCV001215993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183226	108183226	11:g.108183226G>A	ClinGen:CA191382	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6006+1G>C	472	ATM	Pathogenic/Likely pathogenic	786202016	RCV000627911\|RCV001185805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108183226	108183226	NC_000011.9:g.108183226G>C	ClinGen:CA382548820	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6006+1G>T	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002880892\|RCV003138373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108183226	108183226	NC_000011.9:g.108183226G>T	-
NM_000051.4(ATM):c.6006+4_6006+5del	472	ATM	Uncertain significance	879254108	RCV000235554\|RCV000699642;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183228	108183229	NC_000011.9:g.108183229_108183230del	ClinGen:CA10584354	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6006+4A>G	472	ATM	Uncertain significance	-1	RCV002829737;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183229	108183229	NC_000011.9:g.108183229A>G	-
NM_000051.4(ATM):c.6006+6T>C	472	ATM	Uncertain significance	1565493858	RCV000777380\|RCV001236378;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183231	108183231	NC_000011.9:g.108183231T>C	-
NM_000051.4(ATM):c.6006+7A>G	472	ATM	Likely benign	1060504289	RCV000457252;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183232	108183232	NC_000011.9:g.108183232A>G	ClinGen:CA16613169	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6006+8T>C	472	ATM	Benign/Likely benign	56019194	RCV000465701\|RCV000580088\|RCV001193663\|RCV001653846;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108183233	108183233	NC_000011.9:g.108183233T>C	ClinGen:CA6265815	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6006+10A>G	472	ATM	Likely benign	2136063971	RCV002112365;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183235	108183235	108183235	-
NM_000051.4(ATM):c.6006+11G>C	472	ATM	Likely benign	1466545116	RCV000583297\|RCV002060615;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183236	108183236	NC_000011.9:g.108183236G>C	ClinGen:CA601724154	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6006+13G>C	472	ATM	Likely benign	368207631	RCV000600914\|RCV000776319\|RCV001357782\|RCV002063904;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183238	108183238	11:g.108183238G>C	ClinGen:CA6265816	CN169374 not specified;
NM_000051.4(ATM):c.6006+17C>G	472	ATM	Likely benign	1218097012	RCV001181724\|RCV002068296;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183242	108183242	11:g.108183242C>G	-
NM_000051.4(ATM):c.6006+17C>T	472	ATM	Likely benign	-1	RCV002466121\|RCV002571396;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183242	108183242	NC_000011.9:g.108183242C>T	-
NM_000051.4(ATM):c.6006+20T>G	472	ATM	Likely benign	-1	RCV002824741;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108183245	108183245	NC_000011.9:g.108183245T>G	-
NM_000051.4(ATM):c.6007-34C>T	472	ATM	Benign	1591775892	RCV000988701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186516	108186516	11:g.108186516C>T	-
NM_000051.4(ATM):c.6007-33C>T	472	ATM	Benign	1191788183	RCV000988702;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186517	108186517	11:g.108186517C>T	-
NM_000051.4(ATM):c.6007-30C>T	472	ATM	Benign	1425802573	RCV000988703;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186520	108186520	11:g.108186520C>T	-
NM_000051.4(ATM):c.6007-27C>T	472	ATM	Benign	1164649351	RCV000988704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186523	108186523	11:g.108186523C>T	-
NM_000051.4(ATM):c.6007-17T>C	472	ATM	Likely benign	2136116248	RCV002073610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186533	108186533	108186533	-
NM_000051.4(ATM):c.6007-16G>A	472	ATM	Likely benign	771998564	RCV002130211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186534	108186534	108186534	-
NM_000051.4(ATM):c.6007-11C>T	472	ATM	Likely benign	764191468	RCV002216379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186539	108186539	108186539	-
NM_000051.4(ATM):c.6007-10A>G	472	ATM	Likely benign	373395916	RCV000672076\|RCV000771919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186540	108186540	11:g.108186540A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108186540)_(108218102_?)del	472	ATM	Pathogenic	-1	RCV001389397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186540	108218102	-1	-
NM_000051.4(ATM):c.6007-10A>T	472	ATM	Likely benign	373395916	RCV001506503;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186540	108186540	108186540	-
NC_000011.9:g.(?_108186540)_(108188258_?)del	472	ATM	Pathogenic	-1	RCV001918366;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186540	108188258	-1	-
NC_000011.9:g.(?_108186540)_(108196962_?)del	472	ATM	Pathogenic	-1	RCV003119165;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186540	108196962		-
NM_000051.4(ATM):c.6007-9T>C	472	ATM	Likely benign	1591776333	RCV000829168\|RCV002067491;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186541	108186541	11:g.108186541T>C	-
NM_000051.4(ATM):c.6007-8G>C	472	ATM	Likely benign	1057524058	RCV001491185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186542	108186542	108186542	-
NM_000051.4(ATM):c.6007-7T>C	472	ATM	Likely benign	-1	RCV003024127;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186543	108186543	NC_000011.9:g.108186543T>C	-
NM_000051.4(ATM):c.6007-6T>G	472	ATM	Uncertain significance	2136116961	RCV001880901;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186544	108186544	108186544	-
NM_000051.4(ATM):c.6007-5T>C	472	ATM	Conflicting interpretations of pathogenicity	863224294	RCV000199950\|RCV001175894;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186545	108186545	11:g.108186545T>C	ClinGen:CA338988	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6007-4T>G	472	ATM	Likely benign	1591776406	RCV001858542;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186546	108186546	11:g.108186546T>G	-
NM_000051.4(ATM):c.6007-3C>G	472	ATM	Uncertain significance	2084583739	RCV001239914;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186547	108186547	11:g.108186547C>G	-
NM_001330368.2(C11orf65):c.641-6751dup	472	ATM	Pathogenic/Likely pathogenic	1555113505	RCV000666047\|RCV002352088;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186548	108186549	11:g.108186548_108186549insG	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6007-2A>G	472	ATM	Likely pathogenic	2136117225	RCV001976639;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186548	108186548	108186548	-
NM_000051.4(ATM):c.6007-1G>A	472	ATM	Likely pathogenic	1365726807	RCV002016474\|RCV002251776;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186549	108186549	108186549	-
NM_000051.4(ATM):c.6007G>A (p.Asp2003Asn)	472	ATM	Uncertain significance	730881378	RCV000159740\|RCV000574456\|RCV001370147\|RCV002288673;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186550	108186550	NC_000011.9:g.108186550G>A	ClinGen:CA298290	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6008A>G (p.Asp2003Gly)	472	ATM	Uncertain significance	2136117409	RCV001890026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186551	108186551	108186551	-
NM_000051.4(ATM):c.6009T>C (p.Asp2003=)	472	ATM	Likely benign	878853526	RCV001467482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186552	108186552		ClinGen:CA10582835
NM_000051.4(ATM):c.6009T>G (p.Asp2003Glu)	472	ATM	Uncertain significance	878853526	RCV000559624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186552	108186552	11:g.108186552T>G	ClinGen:CA382549780	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6010C>A (p.Leu2004Ile)	472	ATM	Uncertain significance	1060501561	RCV000469369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186553	108186553	NC_000011.9:g.108186553C>A	ClinGen:CA16613171	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6011T>G (p.Leu2004Arg)	472	ATM	Uncertain significance	1064795932	RCV000484367\|RCV000575141\|RCV001865471;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186554	108186554	11:g.108186554T>G	ClinGen:CA16619206	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6011T>C (p.Leu2004Pro)	472	ATM	Uncertain significance	1064795932	RCV001047564;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186554	108186554	11:g.108186554T>C	-
NM_000051.4(ATM):c.6012T>C (p.Leu2004=)	472	ATM	Likely benign	1324998068	RCV000628289;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186555	108186555		ClinGen:CA476675574	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6013delinsAA (p.Leu2005fs)	472	ATM	Pathogenic/Likely pathogenic	1555113523	RCV000520231\|RCV001245852\|RCV002358406;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186556	108186556	11:g.108186556_108186557insA	ClinGen:CA658656175	CN517202 not provided;
NM_000051.4(ATM):c.6013C>G (p.Leu2005Val)	472	ATM	Uncertain significance	-1	RCV002305071\|RCV003471317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186556	108186556	108186556	-
NM_000051.4(ATM):c.6015dup (p.Glu2007fs)	472	ATM	Pathogenic	1438576066	RCV000584315\|RCV001264413\|RCV003465303;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186557	108186558	NC_000011.9:g.108186558dup	ClinGen:CA645596405	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6015C>T (p.Leu2005=)	472	ATM	Likely benign	1397821498	RCV001498701\|RCV002359119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186558	108186558		-
NM_000051.4(ATM):c.6015C>G (p.Leu2005=)	472	ATM	Likely benign	-1	RCV002889753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186558	108186558		-
NM_000051.4(ATM):c.6016T>G (p.Leu2006Val)	472	ATM	Uncertain significance	1555113531	RCV000565498\|RCV001298160;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186559	108186559	NC_000011.9:g.108186559T>G	ClinGen:CA382549810	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6016T>C (p.Leu2006=)	472	ATM	Likely benign	1555113531	RCV001503055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186559	108186559		-
NM_000051.4(ATM):c.6018A>G (p.Leu2006=)	472	ATM	Likely benign	876659301	RCV000223151\|RCV002519690;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186561	108186561		ClinGen:CA10579203	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6020A>C (p.Glu2007Ala)	472	ATM	Uncertain significance	762001297	RCV000564842\|RCV001071573;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186563	108186563	NC_000011.9:g.108186563A>C	ClinGen:CA6265838	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6021A>T (p.Glu2007Asp)	472	ATM	Uncertain significance	1555113549	RCV000575628\|RCV001044481;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186564	108186564	NC_000011.9:g.108186564A>T	ClinGen:CA382549840	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6022A>G (p.Ile2008Val)	472	ATM	Uncertain significance	2084586855	RCV001204250;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186565	108186565	11:g.108186565A>G	-
NM_000051.4(ATM):c.6023T>C (p.Ile2008Thr)	472	ATM	Uncertain significance	876660227	RCV000218273\|RCV001231604;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186566	108186566	11:g.108186566T>C	ClinGen:CA10579204	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6024del (p.Tyr2009fs)	472	ATM	Pathogenic	2136118352	RCV001388657;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186567	108186567	108186566	-
NM_000051.4(ATM):c.6024C>G (p.Ile2008Met)	472	ATM	Uncertain significance	2136118296	RCV001947610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186567	108186567	108186567	-
NM_000051.4(ATM):c.6025T>C (p.Tyr2009His)	472	ATM	Uncertain significance	199586999	RCV000159741\|RCV000198834\|RCV000235107\|RCV001731407\|RCV003467235;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186568	108186568	NC_000011.9:g.108186568T>C	ClinGen:CA298293	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6025T>A (p.Tyr2009Asn)	472	ATM	Uncertain significance	199586999	RCV001364455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186568	108186568	108186568	-
NM_000051.4(ATM):c.6026A>G (p.Tyr2009Cys)	472	ATM	Uncertain significance	2136118434	RCV001899918\|RCV002359302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186569	108186569	108186569	-
NM_000051.4(ATM):c.6027C>G (p.Tyr2009Ter)	472	ATM	Pathogenic	1555113567	RCV000567406\|RCV001385545;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186570	108186570	NC_000011.9:g.108186570C>G	ClinGen:CA382549871	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6027C>A (p.Tyr2009Ter)	472	ATM	Pathogenic	1555113567	RCV001038141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186570	108186570	11:g.108186570C>A	-
NM_000051.4(ATM):c.6028A>G (p.Arg2010Gly)	472	ATM	Uncertain significance	2136118563	RCV001980761;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186571	108186571	108186571	-
NM_000051.4(ATM):c.6036A>G (p.Ile2012Met)	472	ATM	Uncertain significance	1591776713	RCV000821236\|RCV002352456\|RCV003325523;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108186579	108186579	11:g.108186579A>G	-
NM_000051.4(ATM):c.6037G>A (p.Gly2013Arg)	472	ATM	Uncertain significance	2084587881	RCV001214306\|RCV002356917;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186580	108186580	11:g.108186580G>A	-
NM_000051.4(ATM):c.6038G>C (p.Gly2013Ala)	472	ATM	Uncertain significance	-1	RCV003047899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186581	108186581	NC_000011.9:g.108186581G>C	-
NM_000051.4(ATM):c.6040G>C (p.Glu2014Gln)	472	ATM	Uncertain significance	375783941	RCV000165483\|RCV000535539\|RCV003230261\|RCV003230425;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374	11	108186583	108186583	11:g.108186583G>C	ClinGen:CA193518	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6040G>T (p.Glu2014Ter)	472	ATM	Pathogenic/Likely pathogenic	375783941	RCV000412041\|RCV000657612\|RCV000775840\|RCV002272219\|RCV003150193;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN221562	11	108186583	108186583	NC_000011.9:g.108186583G>T	ClinGen:CA16041420	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6040G>A (p.Glu2014Lys)	472	ATM	Uncertain significance	375783941	RCV001024835\|RCV001301825\|RCV001766857;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186583	108186583	11:g.108186583G>A	-
NM_000051.4(ATM):c.6041A>G (p.Glu2014Gly)	472	ATM	Uncertain significance	-1	RCV003043978;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186584	108186584	NC_000011.9:g.108186584A>G	-
NM_000051.4(ATM):c.6042G>A (p.Glu2014=)	472	ATM	Likely benign	138987778	RCV000163709\|RCV000445032\|RCV000461536\|RCV001721052;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186585	108186585		ClinGen:CA189005	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6044C>T (p.Pro2015Leu)	472	ATM	Uncertain significance	2084588823	RCV001324649;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186587	108186587	108186587	-
NM_000051.4(ATM):c.6047A>G (p.Asp2016Gly)	472	ATM	Pathogenic/Likely pathogenic	587781302	RCV000129013\|RCV000449587\|RCV001090516\|RCV001657792\|RCV001814064\|RCV003155920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|Human Phenotype Ontology:HP:0011442,Med	11	108186590	108186590	11:g.108186590A>G	ClinGen:CA163663,UniProtKB:Q13315#VAR_010838	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6047A>T (p.Asp2016Val)	472	ATM	Uncertain significance	587781302	RCV000565210\|RCV001867855;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186590	108186590	NC_000011.9:g.108186590A>T	ClinGen:CA382549963	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6049dup (p.Ser2017fs)	472	ATM	Pathogenic	797045030	RCV000191063\|RCV000575568\|RCV003468879;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186591	108186592	11:g.108186591_108186592insA	ClinGen:CA276124	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6049_6052del (p.Ser2017fs)	472	ATM	Pathogenic	1591776808	RCV000820161\|RCV001024838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186591	108186594	11:g.108186591_108186594del	-
NM_000051.4(ATM):c.6048T>C (p.Asp2016=)	472	ATM	Likely benign	2136119590	RCV001412399\|RCV003284310;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186591	108186591		-
NM_000051.4(ATM):c.6050_6057delinsTA (p.Ser2017_Tyr2019delinsIle)	472	ATM	Uncertain significance	1565498913	RCV000685981;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186593	108186600	11:g.108186594_108186600del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6051T>G (p.Ser2017Arg)	472	ATM	Uncertain significance	2084589926	RCV001321767;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186594	108186594	108186594	-
NM_000051.4(ATM):c.6052T>C (p.Leu2018=)	472	ATM	Likely benign	2136119802	RCV001458445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186595	108186595		-
NM_000051.4(ATM):c.6053T>C (p.Leu2018Ser)	472	ATM	Uncertain significance	755694394	RCV000204577\|RCV002354574;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186596	108186596	NC_000011.9:g.108186596T>C	ClinGen:CA348802	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6054_6055del (p.Tyr2019fs)	472	ATM	Pathogenic	-1	RCV002872679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186596	108186597	NC_000011.9:g.108186597_108186598del	-
NM_000051.4(ATM):c.6055T>C (p.Tyr2019His)	472	ATM	Uncertain significance	1591776885	RCV001024843\|RCV001862304;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186598	108186598	11:g.108186598T>C	-
NM_000051.4(ATM):c.6056A>G (p.Tyr2019Cys)	472	ATM	Conflicting interpretations of pathogenicity	876658415	RCV000216689\|RCV000543617\|RCV001251347;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108186599	108186599	11:g.108186599A>G	ClinGen:CA10579205	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6056A>C (p.Tyr2019Ser)	472	ATM	Uncertain significance	876658415	RCV002009862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186599	108186599	108186599	-
NM_000051.4(ATM):c.6057T>C (p.Tyr2019=)	472	ATM	Likely benign	777534711	RCV000583218\|RCV000876450\|RCV002225678;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186600	108186600		ClinGen:CA6265841	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6058G>C (p.Gly2020Arg)	472	ATM	Uncertain significance	2084590997	RCV001071168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186601	108186601	11:g.108186601G>C	-
NM_000051.4(ATM):c.6059G>T (p.Gly2020Val)	472	ATM	Uncertain significance	1591776938	RCV001228660\|RCV003325552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186602	108186602	11:g.108186602G>T	-
NM_000051.4(ATM):c.6060C>G (p.Gly2020=)	472	ATM	Uncertain significance	2136120253	RCV002042287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186603	108186603		-
NM_000051.4(ATM):c.6061T>C (p.Cys2021Arg)	472	ATM	Uncertain significance	1591776961	RCV000802793\|RCV002352367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186604	108186604	11:g.108186604T>C	-
NM_000051.4(ATM):c.6062G>A (p.Cys2021Tyr)	472	ATM	Uncertain significance	876660062	RCV000219033\|RCV000483458\|RCV000688776\|RCV003401150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108186605	108186605	11:g.108186605G>A	ClinGen:CA10579206	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6063T>C (p.Cys2021=)	472	ATM	Likely benign	-1	RCV003034801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186606	108186606		-
NM_000051.4(ATM):c.6064G>A (p.Gly2022Ser)	472	ATM	Uncertain significance	35991214	RCV001211185\|RCV002356903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186607	108186607	11:g.108186607G>A	-
NM_000051.4(ATM):c.6065G>A (p.Gly2022Asp)	472	ATM	Uncertain significance	1591777028	RCV001024854\|RCV001215524;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186608	108186608	11:g.108186608G>A	-
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg)	472	ATM	Conflicting interpretations of pathogenicity	11212587	RCV000115221\|RCV000120151\|RCV000122864\|RCV000513642\|RCV001253480\|RCV001356569\|RCV001798320\|RCV002225322\|RCV002225321;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C000	11	108186610	108186610	NC_000011.9:g.108186610G>A	ClinGen:CA157150,UniProtKB:Q13315#VAR_077238	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6067G>C (p.Gly2023Arg)	472	ATM	Benign	-1	RCV003036051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186610	108186610	NC_000011.9:g.108186610G>C	-
NM_000051.4(ATM):c.6068G>A (p.Gly2023Glu)	472	ATM	Uncertain significance	1486220915	RCV000560440\|RCV000570559\|RCV003387870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108186611	108186611	11:g.108186611G>A	ClinGen:CA382550080	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6070G>A (p.Gly2024Arg)	472	ATM	Uncertain significance	1565499041	RCV001024861\|RCV000693560;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186613	108186613	NC_000011.9:g.108186613G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6070G>T (p.Gly2024Trp)	472	ATM	Uncertain significance	1565499041	RCV001298909;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186613	108186613	108186613	-
NM_000051.4(ATM):c.6071G>A (p.Gly2024Glu)	472	ATM	Uncertain significance	1060501564	RCV000457770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186614	108186614	NC_000011.9:g.108186614G>A	ClinGen:CA16613174	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6072G>A (p.Gly2024=)	472	ATM	Likely benign	1591777129	RCV000983759\|RCV001024862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186615	108186615		-
NM_000051.4(ATM):c.6075G>T (p.Lys2025Asn)	472	ATM	Uncertain significance	1591777158	RCV001024863\|RCV001244459;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186618	108186618	11:g.108186618G>T	-
NM_000051.4(ATM):c.6075G>A (p.Lys2025=)	472	ATM	Likely benign	-1	RCV002861833;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186618	108186618		-
NM_000051.4(ATM):c.6077T>C (p.Met2026Thr)	472	ATM	Uncertain significance	2136121082	RCV001961255;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186620	108186620	108186620	-
NM_000051.4(ATM):c.6078G>A (p.Met2026Ile)	472	ATM	Uncertain significance	369349023	RCV000472781\|RCV000482625\|RCV001024865;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186621	108186621	NC_000011.9:g.108186621G>A	ClinGen:CA6265843	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6080del (p.Leu2027fs)	472	ATM	Pathogenic	1060501548	RCV000470615\|RCV000776545;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186622	108186622	NC_000011.9:g.108186623del	ClinGen:CA16613460	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6080T>G (p.Leu2027Ter)	472	ATM	Pathogenic	2136121259	RCV001380467;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186623	108186623	108186623	-
NM_000051.4(ATM):c.6082C>T (p.Gln2028Ter)	472	ATM	Pathogenic	876659454	RCV000213485\|RCV000666075;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186625	108186625	11:g.108186625C>T	ClinGen:CA10579207	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6082C>A (p.Gln2028Lys)	472	ATM	Uncertain significance	876659454	RCV000570873\|RCV001238394;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186625	108186625	NC_000011.9:g.108186625C>A	ClinGen:CA382550156	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6082del (p.Gln2028fs)	472	ATM	Pathogenic/Likely pathogenic	1565499093	RCV000755037\|RCV001231387\|RCV002467452;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186625	108186625	NC_000011.9:g.108186625del	-
NM_000051.4(ATM):c.6082C>G (p.Gln2028Glu)	472	ATM	Uncertain significance	876659454	RCV000809105;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186625	108186625	11:g.108186625C>G	-
NM_000051.4(ATM):c.6087del (p.Ile2030fs)	472	ATM	Pathogenic	-1	RCV003033584;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186628	108186628	NC_000011.9:g.108186630del	-
NM_000051.4(ATM):c.6086C>T (p.Pro2029Leu)	472	ATM	Uncertain significance	863224575	RCV000195924\|RCV003372650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186629	108186629	NC_000011.9:g.108186629C>T	ClinGen:CA336034	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6086C>G (p.Pro2029Arg)	472	ATM	Uncertain significance	863224575	RCV001226276\|RCV003155375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108186629	108186629	11:g.108186629C>G	-
NM_000051.4(ATM):c.6087C>T (p.Pro2029=)	472	ATM	Likely benign	1060504316	RCV000458337\|RCV000582029\|RCV000602001;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108186630	108186630		ClinGen:CA16613400	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val)	472	ATM	Benign/Likely benign	145847315	RCV000120150\|RCV000122865\|RCV000129192\|RCV001357876\|RCV001573283\|RCV002225362\|RCV003315727\|RCV003149823;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108186631	108186631	11:g.108186631A>G	ClinGen:CA157147	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6091A>C (p.Thr2031Pro)	472	ATM	Uncertain significance	1591777327	RCV001062937\|RCV002355071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186634	108186634	11:g.108186634A>C	-
NM_000051.4(ATM):c.6092C>T (p.Thr2031Ile)	472	ATM	Uncertain significance	1555113613	RCV000567229\|RCV001228477\|RCV002248782;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108186635	108186635	11:g.108186635C>T	ClinGen:CA382550213	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6092C>G (p.Thr2031Ser)	472	ATM	Uncertain significance	1555113613	RCV001878984;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186635	108186635	108186635	-
NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys)	472	ATM	Pathogenic/Likely pathogenic	139770721	RCV000159742\|RCV000167946\|RCV000212037\|RCV000709711\|RCV000762824\|RCV001391204\|RCV001657897\|RCV001706063\|RCV003162671;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480	11	108186638	108186638	NC_000011.9:g.108186638G>A	ClinGen:CA298296	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6095G>T (p.Arg2032Ile)	472	ATM	Uncertain significance	139770721	RCV001223230;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186638	108186638	11:g.108186638G>T	-
NM_000051.4(ATM):c.6095+1G>A	472	ATM	Pathogenic/Likely pathogenic	587781584	RCV000129624\|RCV000780909\|RCV003114280\|RCV003467115;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186639	108186639	11:g.108186639G>A	ClinGen:CA164796	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6095+2T>C	472	ATM	Likely pathogenic	1057516525	RCV000410313\|RCV002356505\|RCV003401385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	11	108186640	108186640	NC_000011.9:g.108186640T>C	ClinGen:CA16041421	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6095+5del	472	ATM	Conflicting interpretations of pathogenicity	1555113628	RCV000571474\|RCV000628246;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186641	108186641	NC_000011.9:g.108186643del	ClinGen:CA658656181	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6095+4A>G	472	ATM	Conflicting interpretations of pathogenicity	1555113632	RCV000535199\|RCV001024886\|RCV001192391;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108186642	108186642	11:g.108186642A>G	ClinGen:CA658656182	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6095+4A>C	472	ATM	Uncertain significance	1555113632	RCV000791956;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186642	108186642	11:g.108186642A>C	-
NM_000051.4(ATM):c.6095+5A>G	472	ATM	Conflicting interpretations of pathogenicity	757328753	RCV000262597\|RCV001024887;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186643	108186643	NC_000011.9:g.108186643A>G	ClinGen:CA10629783	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6095+6T>C	472	ATM	Likely benign	1057522992	RCV000583507\|RCV000823502\|RCV001356375\|RCV003316555;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186644	108186644	11:g.108186644T>C	ClinGen:CA16605813	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6095+6T>A	472	ATM	Uncertain significance	1057522992	RCV000547808;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186644	108186644	11:g.108186644T>A	ClinGen:CA658656185	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6095+7T>G	472	ATM	Likely benign	2136122461	RCV001475217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186645	108186645	108186645	-
NM_000051.4(ATM):c.6095+8G>T	472	ATM	Likely benign	547072690	RCV000579757\|RCV000586152\|RCV001080006;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186646	108186646	NC_000011.9:g.108186646G>T	ClinGen:CA6265845	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6095+9del	472	ATM	Likely benign	2136122631	RCV002170783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186647	108186647	108186646	-
NM_000051.4(ATM):c.6095+10A>G	472	ATM	Likely benign	-1	RCV002851539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186648	108186648	NC_000011.9:g.108186648A>G	-
NM_000051.4(ATM):c.6095+11T>G	472	ATM	Likely benign	2136122672	RCV002196844;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186649	108186649	108186649	-
NM_000051.4(ATM):c.6095+13T>C	472	ATM	Likely benign	2136122778	RCV002091828;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186651	108186651	108186651	-
NM_000051.4(ATM):c.6095+15T>C	472	ATM	Benign	3212321	RCV000128886\|RCV000322367\|RCV000679132\|RCV001357937\|RCV001610438\|RCV002225415\|RCV003149880\|RCV003315860;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108186653	108186653	11:g.108186653T>C	ClinGen:CA163514	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6095+17T>C	472	ATM	Likely benign	2136122949	RCV002201950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186655	108186655	108186655	-
NM_000051.4(ATM):c.6095+18A>T	472	ATM	Likely benign	-1	RCV002834708;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186656	108186656	NC_000011.9:g.108186656A>T	-
NM_000051.4(ATM):c.6095+20A>C	472	ATM	Likely benign	2136123062	RCV002212268;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186658	108186658	108186658	-
NM_000051.4(ATM):c.6096-20T>C	472	ATM	Likely benign	746766702	RCV000771920\|RCV002061060;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186718	108186718	NC_000011.9:g.108186718T>C	-
NM_000051.4(ATM):c.6096-20T>G	472	ATM	Likely benign	746766702	RCV001999901;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186718	108186718	108186718	-
NM_000051.4(ATM):c.6096-14A>G	472	ATM	Likely benign	184029731	RCV000439213\|RCV000580952\|RCV001796033\|RCV001861490;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186724	108186724	11:g.108186724A>G	ClinGen:CA6265863	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6096-9_6096-5del	472	ATM	Conflicting interpretations of pathogenicity	879254095	RCV000236366\|RCV000793448\|RCV001189626\|RCV001270951\|RCV001391205\|RCV003469185;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562\|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350, Orphanet:1333, Orphanet:217074\|MOND	11	108186725	108186729	NC_000011.9:g.108186729_108186733del	ClinGen:CA10584355	CN169374 not specified;
NM_000051.4(ATM):c.6096-10T>C	472	ATM	Likely benign	2136126453	RCV002092091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186728	108186728	108186728	-
NM_000051.4(ATM):c.6096-7C>G	472	ATM	Likely benign	1173338615	RCV002193532;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186731	108186731	108186731	-
NM_000051.4(ATM):c.6096-5T>C	472	ATM	Likely benign	-1	RCV003022940;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186733	108186733	NC_000011.9:g.108186733T>C	-
NM_000051.4(ATM):c.6096-3T>C	472	ATM	Conflicting interpretations of pathogenicity	748380897	RCV000572845\|RCV000628094\|RCV001355568\|RCV003237939;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517\|MedGen:C3661900	11	108186735	108186735	NC_000011.9:g.108186735T>C	ClinGen:CA6265865	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6096-3T>G	472	ATM	Uncertain significance	748380897	RCV001893259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186735	108186735	108186735	-
NM_000051.4(ATM):c.6096-2A>C	472	ATM	Likely pathogenic	-1	RCV003054558;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186736	108186736	NC_000011.9:g.108186736A>C	-
NM_000051.4(ATM):c.6096-1G>C	472	ATM	Likely pathogenic	1591778339	RCV000809758\|RCV002352397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186737	108186737	11:g.108186737G>C	-
NM_000051.4(ATM):c.6096A>G (p.Arg2032=)	472	ATM	Likely benign	1591778359	RCV001427049\|RCV002354837;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186738	108186738		-
NM_000051.4(ATM):c.6096A>T (p.Arg2032Ser)	472	ATM	Uncertain significance	1591778359	RCV001901672\|RCV002359397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186738	108186738	108186738	-
NM_000051.4(ATM):c.6097C>T (p.Leu2033=)	472	ATM	Likely benign	769813736	RCV000167454\|RCV000429620\|RCV000528236;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186739	108186739		ClinGen:CA198356	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6097C>G (p.Leu2033Val)	472	ATM	Uncertain significance	769813736	RCV001912784\|RCV002359377;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186739	108186739	108186739	-
NM_000051.4(ATM):c.6098T>C (p.Leu2033Pro)	472	ATM	Uncertain significance	876660681	RCV000217086\|RCV001216472;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186740	108186740	11:g.108186740T>C	ClinGen:CA10579208	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6100C>T (p.Arg2034Ter)	472	ATM	Pathogenic/Likely pathogenic	532480170	RCV000115222\|RCV000122867\|RCV000235108\|RCV001762221;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186742	108186742	NC_000011.9:g.108186742C>T	ClinGen:CA286916	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6100C>A (p.Arg2034=)	472	ATM	Likely benign	532480170	RCV000215954\|RCV000418769\|RCV000536264;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186742	108186742		ClinGen:CA6265866	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6101G>A (p.Arg2034Gln)	472	ATM	Conflicting interpretations of pathogenicity	3218670	RCV000115223\|RCV000212038\|RCV000457673\|RCV001358622\|RCV002288590\|RCV003320457;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN16	11	108186743	108186743	NC_000011.9:g.108186743G>A	ClinGen:CA286919,UniProtKB:Q13315#VAR_056688	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6101G>C (p.Arg2034Pro)	472	ATM	Uncertain significance	3218670	RCV001926843;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186743	108186743	108186743	-
NM_000051.4(ATM):c.6103A>G (p.Thr2035Ala)	472	ATM	Uncertain significance	876659555	RCV000218674\|RCV000685617;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186745	108186745	11:g.108186745A>G	ClinGen:CA10579209	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6104C>T (p.Thr2035Ile)	472	ATM	Uncertain significance	2136127153	RCV001525965\|RCV002568833;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186746	108186746	108186746	-
NM_000051.4(ATM):c.6105A>G (p.Thr2035=)	472	ATM	Likely benign	1555113708	RCV000627982\|RCV001024903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186747	108186747		ClinGen:CA476675633	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6106T>G (p.Tyr2036Asp)	472	ATM	Uncertain significance	1591778483	RCV000801071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186748	108186748	11:g.108186748T>G	-
NM_000051.4(ATM):c.6107A>G (p.Tyr2036Cys)	472	ATM	Uncertain significance	786204141	RCV000168120;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186749	108186749	NC_000011.9:g.108186749A>G	ClinGen:CA334298	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6108T>C (p.Tyr2036=)	472	ATM	Conflicting interpretations of pathogenicity	3092826	RCV000165201\|RCV000586950\|RCV001085669\|RCV001356445\|RCV001528538;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	11	108186750	108186750		ClinGen:CA192745	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6108T>A (p.Tyr2036Ter)	472	ATM	Pathogenic	3092826	RCV000790417\|RCV002536882;	N	\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186750	108186750	11:g.108186750T>A	-
NM_000051.4(ATM):c.6108T>G (p.Tyr2036Ter)	472	ATM	Pathogenic	3092826	RCV000822334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186750	108186750	11:g.108186750T>G	-
NM_000051.4(ATM):c.6109G>C (p.Glu2037Gln)	472	ATM	Uncertain significance	1448711296	RCV001340934;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186751	108186751	108186751	-
NM_000051.4(ATM):c.6109G>A (p.Glu2037Lys)	472	ATM	Uncertain significance	-1	RCV003033620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186751	108186751	NC_000011.9:g.108186751G>A	-
NM_000051.4(ATM):c.6110A>G (p.Glu2037Gly)	472	ATM	Uncertain significance	2084612043	RCV001210849\|RCV002356901;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186752	108186752	11:g.108186752A>G	-
NM_000051.4(ATM):c.6112C>A (p.His2038Asn)	472	ATM	Uncertain significance	1060501643	RCV000470494\|RCV001563089\|RCV002356672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186754	108186754	NC_000011.9:g.108186754C>A	ClinGen:CA16613401	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6112C>T (p.His2038Tyr)	472	ATM	Uncertain significance	1060501643	RCV001230948\|RCV001311789\|RCV002356991;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186754	108186754	11:g.108186754C>T	-
NM_000051.4(ATM):c.6112C>G (p.His2038Asp)	472	ATM	Uncertain significance	1060501643	RCV001319435;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186754	108186754	108186754	-
NM_000051.4(ATM):c.6113A>G (p.His2038Arg)	472	ATM	Uncertain significance	2084612536	RCV001227111;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186755	108186755	11:g.108186755A>G	-
NM_000051.4(ATM):c.6114C>T (p.His2038=)	472	ATM	Benign/Likely benign	774993357	RCV000167380\|RCV000458818\|RCV000438751\|RCV001355851\|RCV001798601;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562	11	108186756	108186756		ClinGen:CA198154
NM_000051.4(ATM):c.6114C>G (p.His2038Gln)	472	ATM	Uncertain significance	774993357	RCV000219254\|RCV000482636\|RCV000628144\|RCV002465573;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108186756	108186756	11:g.108186756C>G	ClinGen:CA10579210	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6114C>A (p.His2038Gln)	472	ATM	Uncertain significance	774993357	RCV000565349\|RCV002526815;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186756	108186756	NC_000011.9:g.108186756C>A	ClinGen:CA382550381	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6115G>A (p.Glu2039Lys)	472	ATM	Conflicting interpretations of pathogenicity	864622251	RCV000204272\|RCV000255601\|RCV000574550\|RCV001270952\|RCV003334385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186757	108186757	11:g.108186757G>A	ClinGen:CA348515	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6115G>T (p.Glu2039Ter)	472	ATM	Pathogenic	864622251	RCV000628100;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186757	108186757	11:g.108186757G>T	ClinGen:CA382550391	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6116A>G (p.Glu2039Gly)	472	ATM	Uncertain significance	876659558	RCV000219750\|RCV000548618;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186758	108186758	11:g.108186758A>G	ClinGen:CA10579211	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6116A>T (p.Glu2039Val)	472	ATM	Conflicting interpretations of pathogenicity	876659558	RCV000464903\|RCV001024909\|RCV001224213;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186758	108186758	NC_000011.9:g.108186758A>T	ClinGen:CA16616706	C0346153 114480 Familial cancer of breast;
NM_000051.4(ATM):c.6117A>G (p.Glu2039=)	472	ATM	Likely benign	2136127840	RCV001439672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186759	108186759		-
NM_000051.4(ATM):c.6118G>C (p.Ala2040Pro)	472	ATM	Uncertain significance	863224576	RCV000197826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186760	108186760	11:g.108186760G>C	ClinGen:CA337477	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6118_6119delinsAT (p.Ala2040Ile)	472	ATM	Uncertain significance	1555113730	RCV000568158\|RCV002528968;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186760	108186761	NC_000011.9:g.108186760_108186761delinsAT	ClinGen:CA658656189	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6119C>T (p.Ala2040Val)	472	ATM	Uncertain significance	1299506506	RCV000524776\|RCV000580688\|RCV001193065;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108186761	108186761	NC_000011.9:g.108186761C>T	ClinGen:CA382550412	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6119C>A (p.Ala2040Glu)	472	ATM	Uncertain significance	1299506506	RCV001035691\|RCV002354974;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186761	108186761	11:g.108186761C>A	-
NM_000051.4(ATM):c.6119C>G (p.Ala2040Gly)	472	ATM	Uncertain significance	-1	RCV002861529;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186761	108186761	NC_000011.9:g.108186761C>G	-
NM_000051.4(ATM):c.6120A>G (p.Ala2040=)	472	ATM	Likely benign	1565499622	RCV000780911\|RCV001461785;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186762	108186762		-
NM_000051.4(ATM):c.6121A>G (p.Met2041Val)	472	ATM	Uncertain significance	759753186	RCV000571831\|RCV000628071\|RCV001770512;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186763	108186763	NC_000011.9:g.108186763A>G	ClinGen:CA6265867	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6122T>C (p.Met2041Thr)	472	ATM	Uncertain significance	1000032847	RCV000483668\|RCV000798105\|RCV001024914\|RCV003476169;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186764	108186764	11:g.108186764T>C	ClinGen:CA16619208	CN169374 not specified;
NM_000051.4(ATM):c.6122T>A (p.Met2041Lys)	472	ATM	Uncertain significance	-1	RCV002301343;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186764	108186764	108186764	-
NM_000051.4(ATM):c.6123G>A (p.Met2041Ile)	472	ATM	Uncertain significance	1555113740	RCV001024915\|RCV001214923;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186765	108186765	11:g.108186765G>A	-
NM_000051.4(ATM):c.6124T>C (p.Trp2042Arg)	472	ATM	Uncertain significance	1591778747	RCV000804260;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186766	108186766	11:g.108186766T>C	-
NM_000051.4(ATM):c.6125G>T (p.Trp2042Leu)	472	ATM	Uncertain significance	1565499657	RCV000706682;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186767	108186767	11:g.108186767G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6125G>A (p.Trp2042Ter)	472	ATM	Pathogenic	1565499657	RCV001914621;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186767	108186767	108186767	-
NM_000051.4(ATM):c.6126G>C (p.Trp2042Cys)	472	ATM	Uncertain significance	2084615312	RCV001036932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186768	108186768	11:g.108186768G>C	-
NM_000051.4(ATM):c.6126G>A (p.Trp2042Ter)	472	ATM	Pathogenic	2084615312	RCV001929662;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186768	108186768	108186768	-
NM_000051.4(ATM):c.6127_6136delinsT (p.Gly2043_Ala2045del)	472	ATM	Uncertain significance	1064792941	RCV000465054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186769	108186778	NC_000011.9:g.108186769_108186778delinsT	ClinGen:CA16613092	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6127G>A (p.Gly2043Ser)	472	ATM	Uncertain significance	767939328	RCV000627843\|RCV001024917\|RCV001577804;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108186769	108186769	NC_000011.9:g.108186769G>A	ClinGen:CA6265868	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6128G>T (p.Gly2043Val)	472	ATM	Uncertain significance	753384717	RCV000822491\|RCV001024919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186770	108186770	11:g.108186770G>T	-
NM_000051.4(ATM):c.6133del (p.Ala2045fs)	472	ATM	Pathogenic/Likely pathogenic	1555113762	RCV000562488\|RCV000657419\|RCV000698075\|RCV003459316;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186775	108186775	11:g.108186775_108186775del	ClinGen:CA658656190	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6133G>A (p.Ala2045Thr)	472	ATM	Uncertain significance	2084616257	RCV001035706\|RCV001759933\|RCV002354975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186775	108186775	11:g.108186775G>A	-
NM_000051.4(ATM):c.6134C>A (p.Ala2045Asp)	472	ATM	Uncertain significance	879254147	RCV000236311\|RCV000699329;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186776	108186776	NC_000011.9:g.108186776C>A	ClinGen:CA10584356	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6136del (p.Ala2045_Leu2046insTer)	472	ATM	Pathogenic	-1	RCV003084892;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186776	108186776	NC_000011.9:g.108186778del	-
NM_000051.4(ATM):c.6135C>T (p.Ala2045=)	472	ATM	Likely benign	1555113771	RCV000628291\|RCV002358747;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186777	108186777		ClinGen:CA476675667	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6136C>G (p.Leu2046Val)	472	ATM	Uncertain significance	1456877872	RCV000822260;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186778	108186778	11:g.108186778C>G	-
NM_000051.4(ATM):c.6139_6141dup (p.Val2047_Thr2048insVal)	472	ATM	Uncertain significance	1591778872	RCV000794523;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186778	108186779	11:g.108186778_108186779insTAG	-
NM_000051.4(ATM):c.6139_6146del (p.Leu2046_Val2047insTer)	472	ATM	Pathogenic	2084617417	RCV001063486;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186779	108186786	11:g.108186779_108186786del	-
NM_000051.4(ATM):c.6138A>G (p.Leu2046=)	472	ATM	Likely benign	1591778887	RCV001024927\|RCV001494058;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186780	108186780		-
NM_000051.4(ATM):c.6139G>A (p.Val2047Ile)	472	ATM	Uncertain significance	1591778897	RCV001024928\|RCV001062475;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186781	108186781	11:g.108186781G>A	-
NM_000051.4(ATM):c.6140T>G (p.Val2047Gly)	472	ATM	Uncertain significance	878853528	RCV000228488\|RCV002354629;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186782	108186782	NC_000011.9:g.108186782T>G	ClinGen:CA10582836	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6141A>G (p.Val2047=)	472	ATM	Likely benign	978540099	RCV000541612\|RCV000563408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186783	108186783		ClinGen:CA228401617	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6144A>G (p.Thr2048=)	472	ATM	Likely benign	1201081443	RCV000554224\|RCV000563049\|RCV000607265;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108186786	108186786		ClinGen:CA476675685	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6146_6147del (p.Thr2048_Tyr2049insTer)	472	ATM	Pathogenic	1565499757	RCV000698373\|RCV001545926\|RCV002352170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186786	108186787	11:g.108186786_108186787del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6145T>G (p.Tyr2049Asp)	472	ATM	Uncertain significance	786203767	RCV000167214\|RCV000523725\|RCV000628069\|RCV003330526;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108186787	108186787	11:g.108186787T>G	ClinGen:CA197753	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6146dup (p.Tyr2049Ter)	472	ATM	Pathogenic	2084619584	RCV001218585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186787	108186788	11:g.108186787_108186788insA	-
NM_000051.4(ATM):c.6146A>G (p.Tyr2049Cys)	472	ATM	Uncertain significance	1233757467	RCV000820823\|RCV001024942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186788	108186788	11:g.108186788A>G	-
NM_000051.4(ATM):c.6147T>C (p.Tyr2049=)	472	ATM	Benign/Likely benign	369940136	RCV000167192\|RCV000232472\|RCV001193035\|RCV001610476;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108186789	108186789		ClinGen:CA197707	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6150C>T (p.Asp2050=)	472	ATM	Likely benign	1057520805	RCV000431375\|RCV001433071\|RCV002356539;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186792	108186792		ClinGen:CA16606837	CN169374 not specified;
NM_000051.4(ATM):c.6151C>A (p.Leu2051Ile)	472	ATM	Uncertain significance	1591779081	RCV001024951\|RCV001065430;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186793	108186793	11:g.108186793C>A	-
NM_000051.4(ATM):c.6151C>T (p.Leu2051Phe)	472	ATM	Uncertain significance	1591779081	RCV001060940\|RCV001760023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186793	108186793	11:g.108186793C>T	-
NM_000051.4(ATM):c.6153C>T (p.Leu2051=)	472	ATM	Likely benign	876658452	RCV000221246\|RCV000421095\|RCV000628307\|RCV002478787;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186795	108186795		ClinGen:CA10579212	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6153C>G (p.Leu2051=)	472	ATM	Likely benign	876658452	RCV001181417\|RCV001474364;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186795	108186795		-
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys)	472	ATM	Conflicting interpretations of pathogenicity	202206540	RCV000159743\|RCV000167963\|RCV000212039\|RCV001251135\|RCV001357434;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C0006142	11	108186796	108186796	NC_000011.9:g.108186796G>A	ClinGen:CA298299	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6155A>G (p.Glu2052Gly)	472	ATM	Uncertain significance	1591779138	RCV001024953\|RCV001862307;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186797	108186797	11:g.108186797A>G	-
NM_000051.4(ATM):c.6158C>G (p.Thr2053Arg)	472	ATM	Uncertain significance	2136130260	RCV002042574\|RCV002352726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186800	108186800	108186800	-
NM_000051.4(ATM):c.6160G>T (p.Ala2054Ser)	472	ATM	Uncertain significance	587779853	RCV000115225\|RCV000526670\|RCV000566375\|RCV001193632\|RCV003467029;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186802	108186802	NC_000011.9:g.108186802G>T	ClinGen:CA286925	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6160G>A (p.Ala2054Thr)	472	ATM	Uncertain significance	587779853	RCV001049897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186802	108186802	11:g.108186802G>A	-
NM_000051.4(ATM):c.6161C>G (p.Ala2054Gly)	472	ATM	Uncertain significance	-1	RCV003020549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186803	108186803	NC_000011.9:g.108186803C>G	-
NM_000051.4(ATM):c.6162A>G (p.Ala2054=)	472	ATM	Likely benign	-1	RCV003022503;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186804	108186804		-
NM_000051.4(ATM):c.6162_6173delinsG (p.Ile2055fs)	472	ATM	Pathogenic	-1	RCV003017479;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186804	108186815	NC_000011.9:g.108186804_108186815delinsG	-
NM_000051.4(ATM):c.6163A>G (p.Ile2055Val)	472	ATM	Uncertain significance	758038580	RCV000575718\|RCV001208530\|RCV001779010;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108186805	108186805	NC_000011.9:g.108186805A>G	ClinGen:CA6265870	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6163_6165del (p.Ile2055del)	472	ATM	Uncertain significance	1565499855	RCV000689985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186805	108186807	11:g.108186805_108186807del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6164_6165del (p.Ile2055fs)	472	ATM	Pathogenic	2084621452	RCV001053229\|RCV002355038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186806	108186807	11:g.108186806_108186807del	-
NM_000051.4(ATM):c.6165C>A (p.Ile2055=)	472	ATM	Likely benign	779848229	RCV001424651\|RCV002356736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186807	108186807		ClinGen:CA6265871
NM_000051.4(ATM):c.6167C>T (p.Pro2056Leu)	472	ATM	Uncertain significance	1565499875	RCV000776758\|RCV001298948;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186809	108186809	NC_000011.9:g.108186809C>T	-
NM_000051.4(ATM):c.6168C>T (p.Pro2056=)	472	ATM	Likely benign	1057520449	RCV000433091\|RCV001504358;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186810	108186810		ClinGen:CA16605816	CN169374 not specified;
NM_000051.4(ATM):c.6168C>G (p.Pro2056=)	472	ATM	Likely benign	-1	RCV002815477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186810	108186810		-
NM_000051.4(ATM):c.6169T>C (p.Ser2057Pro)	472	ATM	Uncertain significance	2084622401	RCV001296795;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186811	108186811	108186811	-
NM_000051.4(ATM):c.6172_6176del (p.Ser2058fs)	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002834450\|RCV003465844;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186814	108186818	NC_000011.9:g.108186814_108186818del	-
NM_000051.4(ATM):c.6175A>G (p.Thr2059Ala)	472	ATM	Uncertain significance	1329479941	RCV001059185\|RCV001525349;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186817	108186817	11:g.108186817A>G	-
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile)	472	ATM	Conflicting interpretations of pathogenicity	144761622	RCV000115226\|RCV000212040\|RCV000196722\|RCV000588663\|RCV002225323;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108186818	108186818	NC_000011.9:g.108186818C>T	ClinGen:CA286928	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6177dup (p.Arg2060fs)	472	ATM	Pathogenic	1591779373	RCV000810450\|RCV002352404\|RCV003396415;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	11	108186818	108186819	11:g.108186818_108186819insA	-
NM_000051.4(ATM):c.6178C>T (p.Arg2060Cys)	472	ATM	Uncertain significance	587778078	RCV000115227\|RCV000120152\|RCV000204186\|RCV000766513;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186820	108186820	NC_000011.9:g.108186820C>T	ClinGen:CA157153	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6178C>A (p.Arg2060Ser)	472	ATM	Uncertain significance	587778078	RCV000777133\|RCV001869117;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186820	108186820	NC_000011.9:g.108186820C>A	-
NM_000051.4(ATM):c.6179G>A (p.Arg2060His)	472	ATM	Conflicting interpretations of pathogenicity	376521407	RCV000122869\|RCV000131768\|RCV000212041\|RCV000779793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108186821	108186821	NC_000011.9:g.108186821G>A	ClinGen:CA294446	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6179G>C (p.Arg2060Pro)	472	ATM	Uncertain significance	376521407	RCV000221500\|RCV000459766\|RCV000482223\|RCV000779773\|RCV003462450;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186821	108186821	11:g.108186821G>C	ClinGen:CA6265872	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6180C>A (p.Arg2060=)	472	ATM	Likely benign	2136131720	RCV001457984;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186822	108186822		-
NM_000051.4(ATM):c.6180C>T (p.Arg2060=)	472	ATM	Uncertain significance	2136131720	RCV002004609;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186822	108186822		-
NM_000051.4(ATM):c.6181C>T (p.Gln2061Ter)	472	ATM	Pathogenic	1555113845	RCV000583766\|RCV001381514;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186823	108186823	NC_000011.9:g.108186823C>T	ClinGen:CA382550728	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6182A>C (p.Gln2061Pro)	472	ATM	Uncertain significance	1591779456	RCV001024976\|RCV001371294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186824	108186824	11:g.108186824A>C	-
NM_000051.4(ATM):c.6184dup (p.Ala2062fs)	472	ATM	Pathogenic/Likely pathogenic	2136131958	RCV001947009\|RCV003471177;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186824	108186825	108186824	-
NM_000051.4(ATM):c.6184G>T (p.Ala2062Ser)	472	ATM	Uncertain significance	2136131994	RCV002027769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186826	108186826	108186826	-
NM_000051.4(ATM):c.6185C>A (p.Ala2062Glu)	472	ATM	Uncertain significance	1565499989	RCV000709189;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186827	108186827	11:g.108186827C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6187G>T (p.Gly2063Ter)	472	ATM	Pathogenic	2136132184	RCV001804525\|RCV001869514;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186829	108186829	108186829	-
NM_000051.4(ATM):c.6188G>A (p.Gly2063Glu)	472	ATM	Conflicting interpretations of pathogenicity	866290641	RCV000484938\|RCV001378077\|RCV003470551;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186830	108186830	11:g.108186830G>A	ClinGen:CA16619209	CN169374 not specified;
NM_000051.4(ATM):c.6191T>C (p.Ile2064Thr)	472	ATM	Uncertain significance	1555113854	RCV000627875;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186833	108186833	NC_000011.9:g.108186833T>C	ClinGen:CA382550775	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6191T>A (p.Ile2064Asn)	472	ATM	Uncertain significance	1555113854	RCV001221634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186833	108186833	11:g.108186833T>A	-
NM_000051.4(ATM):c.6192C>A (p.Ile2064=)	472	ATM	Likely benign	876659831	RCV000214894\|RCV000628223\|RCV001697294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108186834	108186834		ClinGen:CA10579213	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6194T>C (p.Ile2065Thr)	472	ATM	Uncertain significance	372838622	RCV000219142\|RCV000235342\|RCV000234193\|RCV001818521\|RCV002225518\|RCV003328566\|RCV003417785;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C03461	11	108186836	108186836	11:g.108186836T>C	ClinGen:CA6265873	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6195T>C (p.Ile2065=)	472	ATM	Likely benign	756309395	RCV001398615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186837	108186837		-
NM_000051.4(ATM):c.6196C>G (p.Gln2066Glu)	472	ATM	Uncertain significance	1361215494	RCV000539253\|RCV000560976\|RCV003470677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186838	108186838	11:g.108186838C>G	ClinGen:CA382550803	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6196C>T (p.Gln2066Ter)	472	ATM	Pathogenic	1361215494	RCV001216820;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186838	108186838	11:g.108186838C>T	-
NM_000051.4(ATM):c.6196C>A (p.Gln2066Lys)	472	ATM	Uncertain significance	1361215494	RCV001243077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186838	108186838	11:g.108186838C>A	-
NM_000051.4(ATM):c.6196_6198del (p.Gln2066del)	472	ATM	Uncertain significance	2136132718	RCV002026536;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186838	108186840	108186837	-
NM_000051.4(ATM):c.6197_6198dup (p.Ala2067fs)	472	ATM	Pathogenic	-1	RCV003050308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186838	108186839	NC_000011.9:g.108186839_108186840dup	-
NM_000051.4(ATM):c.6197A>G (p.Gln2066Arg)	472	ATM	Uncertain significance	1565500074	RCV000702512\|RCV000773036;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186839	108186839	NC_000011.9:g.108186839A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6198G>C (p.Gln2066His)	472	ATM	Conflicting interpretations of pathogenicity	786203341	RCV000166609\|RCV000235567\|RCV001205244;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186840	108186840	11:g.108186840G>C	ClinGen:CA196294	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6198+1del	472	ATM	Pathogenic	2136132894	RCV001911628;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186840	108186840	108186839	-
NM_000051.4(ATM):c.6198+1G>A	472	ATM	Pathogenic/Likely pathogenic	778031266	RCV000222023\|RCV000416815\|RCV000519640\|RCV000668415\|RCV001814117\|RCV003468967;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0011442,MedGen:C40233	11	108186841	108186841	11:g.108186841G>A	ClinGen:CA6265875	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6198+2T>C	472	ATM	Pathogenic	1555113882	RCV000556117;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186842	108186842	11:g.108186842T>C	ClinGen:CA382550826	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6198+2T>G	472	ATM	Pathogenic	1555113882	RCV001890880;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186842	108186842	108186842	-
NM_000051.4(ATM):c.6198+3A>G	472	ATM	Conflicting interpretations of pathogenicity	786202092	RCV000164733\|RCV000532401\|RCV000486622\|RCV003462146;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108186843	108186843	11:g.108186843A>G	ClinGen:CA191660	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6198+3A>C	472	ATM	Uncertain significance	786202092	RCV001898659\|RCV003289187;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186843	108186843	108186843	-
NM_000051.4(ATM):c.6198+4C>T	472	ATM	Uncertain significance	749370650	RCV000544603;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186844	108186844	11:g.108186844C>T	ClinGen:CA6265876	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6198+5A>G	472	ATM	Conflicting interpretations of pathogenicity	771047560	RCV000205574\|RCV000568174;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108186845	108186845	11:g.108186845A>G	ClinGen:CA349713	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6198+11dup	472	ATM	Benign	2136133315	RCV002117913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186845	108186846	108186845	-
NM_000051.4(ATM):c.6198+11del	472	ATM	Benign	-1	RCV003100541;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186846	108186846	NC_000011.9:g.108186851del	-
NM_000051.4(ATM):c.6198+8T>G	472	ATM	Likely benign	2136133343	RCV002170476;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186848	108186848	108186848	-
NM_000051.4(ATM):c.6198+9_6198+12del	472	ATM	Likely benign	1451367847	RCV001407566;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186849	108186852	108186848	-
NM_000051.4(ATM):c.6198+11T>C	472	ATM	Likely benign	774664615	RCV000515535\|RCV002525000;	N	\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186851	108186851	NC_000011.9:g.108186851T>C	ClinGen:CA6265877
NM_000051.4(ATM):c.6198+17A>G	472	ATM	Likely benign	-1	RCV002805844;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186857	108186857	NC_000011.9:g.108186857A>G	-
NM_000051.4(ATM):c.6198+17A>C	472	ATM	Likely benign	-1	RCV002851244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108186857	108186857	NC_000011.9:g.108186857A>C	-
NC_000011.10:g.(?_108317363)_(108317531_?)del	472	ATM	Pathogenic	-1	RCV000821940;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188090	108188258		-
NM_000051.4(ATM):c.6199-10T>G	472	ATM	Likely benign	2084770572	RCV001218265;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188090	108188090	11:g.108188090T>G	-
NM_000051.4(ATM):c.6199-9C>A	472	ATM	Uncertain significance	1060501611	RCV000471412;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188091	108188091	NC_000011.9:g.108188091C>A	ClinGen:CA16613179	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6199-9C>G	472	ATM	Likely benign	-1	RCV002852399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188091	108188091	NC_000011.9:g.108188091C>G	-
NM_000051.4(ATM):c.6199-8C>T	472	ATM	Likely benign	1254806505	RCV001483121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188092	108188092	108188092	-
NM_000051.4(ATM):c.6199-7T>A	472	ATM	Uncertain significance	1060501631	RCV000456383;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188093	108188093	NC_000011.9:g.108188093T>A	ClinGen:CA16613404	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6199-6G>A	472	ATM	Likely benign	1555114529	RCV000940858\|RCV001355224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0002032,MedGen:C0699790	11	108188094	108188094	11:g.108188094G>A	-
NM_000051.4(ATM):c.6199-6G>T	472	ATM	Likely benign	1555114529	RCV000929527;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188094	108188094	11:g.108188094G>T	-
NM_000051.4(ATM):c.6199-6G>C	472	ATM	Likely benign	1555114529	RCV001403435;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188094	108188094	108188094	-
NM_000051.4(ATM):c.6199-5T>A	472	ATM	Uncertain significance	1555114533	RCV000569340\|RCV000697173;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188095	108188095	NC_000011.9:g.108188095T>A	ClinGen:CA658656197	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6199-4T>G	472	ATM	Likely benign	2136162102	RCV002111574;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188096	108188096	108188096	-
NM_000051.4(ATM):c.6199-3T>C	472	ATM	Uncertain significance	1318760213	RCV000567488\|RCV001370807;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188097	108188097	NC_000011.9:g.108188097T>C	ClinGen:CA601724935	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6199-2A>T	472	ATM	Pathogenic	1060501570	RCV000475818;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188098	108188098	NC_000011.9:g.108188098A>T	ClinGen:CA16613095	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6199-2del	472	ATM	Likely pathogenic	1555114545	RCV000627941;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188098	108188098	NC_000011.9:g.108188098del	ClinGen:CA658797731	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6199-2A>C	472	ATM	Pathogenic	1060501570	RCV001202472;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188098	108188098	11:g.108188098A>C	-
NM_000051.4(ATM):c.6199-1G>T	472	ATM	Pathogenic	1591788932	RCV000821811\|RCV003467509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188099	108188099	11:g.108188099G>T	-
NM_000051.4(ATM):c.6199G>A (p.Ala2067Thr)	472	ATM	Uncertain significance	1555114549	RCV000580527\|RCV001853856;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188100	108188100	11:g.108188100G>A	ClinGen:CA382551006	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp)	472	ATM	Pathogenic/Likely pathogenic	397514577	RCV000032965\|RCV000166627\|RCV000258124\|RCV000762825\|RCV001268054\|RCV001356731\|RCV001762078;	N	MONDO:MONDO:0018266,MedGen:C1876175, Orphanet:370109\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO	11	108188101	108188101	11:g.108188101C>A	ClinGen:CA130514,UniProtKB:Q13315#VAR_010840,OMIM:607585.0033	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6201C>T (p.Ala2067=)	472	ATM	Likely benign	2136162415	RCV001394655;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188102	108188102		-
NM_000051.4(ATM):c.6202T>C (p.Leu2068=)	472	ATM	Likely benign	2136162514	RCV002153689\|RCV002352915;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188103	108188103		-
NM_000051.4(ATM):c.6203T>C (p.Leu2068Ser)	472	ATM	Conflicting interpretations of pathogenicity	1555114558	RCV000579619\|RCV000779043\|RCV003336057;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188104	108188104	NC_000011.9:g.108188104T>C	ClinGen:CA382551029	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6205C>G (p.Gln2069Glu)	472	ATM	Uncertain significance	1555114563	RCV000552481\|RCV000575697;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188106	108188106	11:g.108188106C>G	ClinGen:CA382551037	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6205C>T (p.Gln2069Ter)	472	ATM	Pathogenic	1555114563	RCV000995496;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188106	108188106	11:g.108188106C>T	-
NM_000051.4(ATM):c.6206A>G (p.Gln2069Arg)	472	ATM	Uncertain significance	1591789003	RCV001025010\|RCV001836067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188107	108188107	11:g.108188107A>G	-
NM_000051.4(ATM):c.6207G>C (p.Gln2069His)	472	ATM	Uncertain significance	2136162810	RCV001881733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188108	108188108	108188108	-
NM_000051.4(ATM):c.6208A>G (p.Asn2070Asp)	472	ATM	Uncertain significance	2136162879	RCV002039590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188109	108188109	108188109	-
NM_000051.4(ATM):c.6208A>T (p.Asn2070Tyr)	472	ATM	Uncertain significance	-1	RCV002302010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188109	108188109	108188109	-
NM_000051.4(ATM):c.6211T>C (p.Leu2071=)	472	ATM	Likely benign	928129862	RCV000564350\|RCV000883957;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188112	108188112		ClinGen:CA228403109	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6214G>A (p.Gly2072Arg)	472	ATM	Uncertain significance	1555114568	RCV000533324\|RCV000561953;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188115	108188115	11:g.108188115G>A	ClinGen:CA382551092	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6215G>C (p.Gly2072Ala)	472	ATM	Uncertain significance	1183544857	RCV000694473\|RCV001191949;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188116	108188116	11:g.108188116G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6216A>T (p.Gly2072=)	472	ATM	Likely benign	2136163345	RCV002085069;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188117	108188117		-
NM_000051.4(ATM):c.6217C>T (p.Leu2073Phe)	472	ATM	Uncertain significance	767406075	RCV000215310\|RCV000815574\|RCV002222447\|RCV003469007;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188118	108188118	11:g.108188118C>T	ClinGen:CA10579214	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6217C>G (p.Leu2073Val)	472	ATM	Uncertain significance	767406075	RCV000484102\|RCV000804328\|RCV001025018;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188118	108188118	11:g.108188118C>G	ClinGen:CA6265895	CN517202 not provided;
NM_000051.4(ATM):c.6218T>C (p.Leu2073Pro)	472	ATM	Uncertain significance	1555114582	RCV000545791;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188119	108188119	11:g.108188119T>C	ClinGen:CA382551109	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6218T>A (p.Leu2073His)	472	ATM	Uncertain significance	-1	RCV003008262;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188119	108188119	NC_000011.9:g.108188119T>A	-
NM_000051.4(ATM):c.6219C>T (p.Leu2073=)	472	ATM	Likely benign	752478345	RCV000431976\|RCV000980136\|RCV002365569;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188120	108188120		ClinGen:CA16605818	CN169374 not specified;
NM_000051.4(ATM):c.6219C>G (p.Leu2073=)	472	ATM	Likely benign	752478345	RCV000569768\|RCV000940872\|RCV002282235;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108188120	108188120		ClinGen:CA6265896	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6220T>C (p.Cys2074Arg)	472	ATM	Uncertain significance	2136163545	RCV002030403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188121	108188121	108188121	-
NM_000051.4(ATM):c.6222C>A (p.Cys2074Ter)	472	ATM	Pathogenic	1565502708	RCV000691022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188123	108188123	NC_000011.9:g.108188123C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6224dup (p.His2075fs)	472	ATM	Pathogenic	-1	RCV002858713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188124	108188125	NC_000011.9:g.108188125dup	-
NM_000051.4(ATM):c.6224A>G (p.His2075Arg)	472	ATM	Uncertain significance	1555114602	RCV000560946\|RCV001046016\|RCV001813788;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108188125	108188125	NC_000011.9:g.108188125A>G	ClinGen:CA382551138	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6224A>C (p.His2075Pro)	472	ATM	Uncertain significance	1555114602	RCV001072007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188125	108188125	11:g.108188125A>C	-
NM_000051.4(ATM):c.6225T>C (p.His2075=)	472	ATM	Likely benign	-1	RCV003049058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188126	108188126		-
NM_000051.4(ATM):c.6226A>G (p.Ile2076Val)	472	ATM	Uncertain significance	755973863	RCV000217659\|RCV000456769\|RCV002288898\|RCV002494598\|RCV003441803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MO	11	108188127	108188127	11:g.108188127A>G	ClinGen:CA6265897	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6228del (p.Leu2077fs)	472	ATM	Pathogenic	786203008	RCV000166124\|RCV000205743\|RCV000236779\|RCV000503030\|RCV003468772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:C3469522\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188128	108188128	11:g.108188128_108188128del	ClinGen:CA195069	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6229C>G (p.Leu2077Val)	472	ATM	Uncertain significance	1591789195	RCV000811334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188130	108188130	11:g.108188130C>G	-
NM_000051.4(ATM):c.6229C>A (p.Leu2077Ile)	472	ATM	Uncertain significance	1591789195	RCV001980353\|RCV002361356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188130	108188130	108188130	-
NM_000051.4(ATM):c.6229C>T (p.Leu2077Phe)	472	ATM	Uncertain significance	-1	RCV002629783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188130	108188130	NC_000011.9:g.108188130C>T	-
NM_000051.4(ATM):c.6230T>C (p.Leu2077Pro)	472	ATM	Uncertain significance	-1	RCV003042241;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188131	108188131	NC_000011.9:g.108188131T>C	-
NM_000051.4(ATM):c.6232T>C (p.Ser2078Pro)	472	ATM	Uncertain significance	587779854	RCV000115228\|RCV000212042\|RCV000556775\|RCV003226199;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108188133	108188133	NC_000011.9:g.108188133T>C	ClinGen:CA286931	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6232T>A (p.Ser2078Thr)	472	ATM	Uncertain significance	-1	RCV002299487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188133	108188133	108188133	-
NM_000051.4(ATM):c.6233C>T (p.Ser2078Phe)	472	ATM	Uncertain significance	786204173	RCV000168203\|RCV001524135;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188134	108188134	NC_000011.9:g.108188134C>T	ClinGen:CA334432	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6234C>T (p.Ser2078=)	472	ATM	Conflicting interpretations of pathogenicity	569483748	RCV000163200\|RCV000422005\|RCV000726706\|RCV001081503\|RCV001798573;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108188135	108188135		ClinGen:CA187719	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6235_6236insAAG (p.Ser2078_Val2079insGlu)	472	ATM	Uncertain significance	1591789280	RCV000814595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188135	108188136	11:g.108188135_108188136insGAA	-
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile)	472	ATM	Benign/Likely benign	1800060	RCV000120153\|RCV000129115\|RCV000205191\|RCV000710675\|RCV001355276\|RCV002225363\|RCV003149824\|RCV003315728;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108188136	108188136	11:g.108188136G>A	ClinGen:CA157156,UniProtKB:Q13315#VAR_010841	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6236T>C (p.Val2079Ala)	472	ATM	Uncertain significance	-1	RCV002584169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188137	108188137	NC_000011.9:g.108188137T>C	-
NM_000051.4(ATM):c.6239_6240del (p.Tyr2080fs)	472	ATM	Pathogenic	878853529	RCV000228891;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188139	108188140	NC_000011.9:g.108188140_108188141del	ClinGen:CA10582837	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6239A>G (p.Tyr2080Cys)	472	ATM	Uncertain significance	587779855	RCV000115229\|RCV000212043\|RCV000627951\|RCV003460808;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188140	108188140	NC_000011.9:g.108188140A>G	ClinGen:CA286934	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6240T>C (p.Tyr2080=)	472	ATM	Likely benign	1383950977	RCV001462469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188141	108188141		-
NM_000051.4(ATM):c.6242T>A (p.Leu2081Ter)	472	ATM	Pathogenic	2136164699	RCV001380136\|RCV002368220;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188143	108188143	108188143	-
NM_000051.4(ATM):c.6243A>T (p.Leu2081Phe)	472	ATM	Uncertain significance	2084779894	RCV001218322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188144	108188144	11:g.108188144A>T	-
NM_000051.4(ATM):c.6244A>G (p.Lys2082Glu)	472	ATM	Uncertain significance	1239942908	RCV000584096\|RCV001068305;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188145	108188145	NC_000011.9:g.108188145A>G	ClinGen:CA382551789	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6245A>C (p.Lys2082Thr)	472	ATM	Uncertain significance	2136164813	RCV001905931;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188146	108188146	108188146	-
NM_000051.4(ATM):c.6245A>T (p.Lys2082Ile)	472	ATM	Uncertain significance	-1	RCV002819752;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188146	108188146	NC_000011.9:g.108188146A>T	-
NM_000051.4(ATM):c.6246A>G (p.Lys2082=)	472	ATM	Conflicting interpretations of pathogenicity	745977589	RCV000217091\|RCV000537363;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188147	108188147		ClinGen:CA6265899	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6246A>T (p.Lys2082Asn)	472	ATM	Uncertain significance	745977589	RCV000806497;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188147	108188147	11:g.108188147A>T	-
NM_000051.4(ATM):c.6247G>A (p.Gly2083Arg)	472	ATM	Uncertain significance	1060501586	RCV000463472\|RCV000775811\|RCV002481422\|RCV003470418;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188148	108188148	NC_000011.9:g.108188148G>A	ClinGen:CA16613096	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6247G>C (p.Gly2083Arg)	472	ATM	Uncertain significance	1060501586	RCV001049820;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188148	108188148	11:g.108188148G>C	-
NM_000051.4(ATM):c.6247G>T (p.Gly2083Ter)	472	ATM	Pathogenic	1060501586	RCV001214513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188148	108188148	11:g.108188148G>T	-
NM_000051.4(ATM):c.6248G>A (p.Gly2083Glu)	472	ATM	Uncertain significance	1060501559	RCV000476869;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188149	108188149	NC_000011.9:g.108188149G>A	ClinGen:CA16613183	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6248G>C (p.Gly2083Ala)	472	ATM	Uncertain significance	1060501559	RCV001025039\|RCV001053128\|RCV001664626;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108188149	108188149	11:g.108188149G>C	-
NM_000051.4(ATM):c.6248G>T (p.Gly2083Val)	472	ATM	Uncertain significance	1060501559	RCV002005755;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188149	108188149	108188149	-
NM_000051.4(ATM):c.6250T>C (p.Leu2084=)	472	ATM	Likely benign	772608345	RCV000163076\|RCV000422080\|RCV001472897;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188151	108188151		ClinGen:CA187388
NM_000051.4(ATM):c.6250T>G (p.Leu2084Val)	472	ATM	Uncertain significance	772608345	RCV001752698\|RCV001868526\|RCV002361035;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188151	108188151	108188151	-
NM_000051.4(ATM):c.6252G>A (p.Leu2084=)	472	ATM	Likely benign	876658700	RCV000217133\|RCV002057187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188153	108188153		ClinGen:CA10579215	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6253G>C (p.Asp2085His)	472	ATM	Uncertain significance	730881379	RCV000821871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188154	108188154	11:g.108188154G>C	-
NM_000051.4(ATM):c.6254A>T (p.Asp2085Val)	472	ATM	Uncertain significance	2136165263	RCV002031527\|RCV002361417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188155	108188155	108188155	-
NM_000051.4(ATM):c.6256_6258del (p.Tyr2086del)	472	ATM	Uncertain significance	-1	RCV002866635;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188155	108188157	NC_000011.9:g.108188157_108188159del	-
NM_000051.4(ATM):c.6255T>A (p.Asp2085Glu)	472	ATM	Uncertain significance	376898203	RCV000213929\|RCV000236427\|RCV000458993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188156	108188156	11:g.108188156T>A	ClinGen:CA6265900	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6256_6261del (p.Tyr2086_Glu2087del)	472	ATM	Uncertain significance	1555114670	RCV000628173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188157	108188162	11:g.108188157_108188162del	ClinGen:CA658797735	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6256T>C (p.Tyr2086His)	472	ATM	Uncertain significance	2084781602	RCV001062112;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188157	108188157	11:g.108188157T>C	-
NM_000051.4(ATM):c.6256T>A (p.Tyr2086Asn)	472	ATM	Uncertain significance	2084781602	RCV001948009;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188157	108188157	108188157	-
NM_000051.4(ATM):c.6257A>T (p.Tyr2086Phe)	472	ATM	Uncertain significance	730881380	RCV000159745\|RCV000231734\|RCV000568069\|RCV001731490\|RCV002288674;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188158	108188158	NC_000011.9:g.108188158A>T	ClinGen:CA298305	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6257A>G (p.Tyr2086Cys)	472	ATM	Uncertain significance	730881380	RCV000220281\|RCV000792305;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188158	108188158	11:g.108188158A>G	ClinGen:CA10579216	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6258T>C (p.Tyr2086=)	472	ATM	Likely benign	1565502999	RCV001469574;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188159	108188159		-
NM_000051.4(ATM):c.6263dup (p.Asn2088fs)	472	ATM	Pathogenic	2084782760	RCV001204374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188160	108188161	11:g.108188160_108188161insA	-
NM_000051.4(ATM):c.6260A>G (p.Glu2087Gly)	472	ATM	Uncertain significance	1565503023	RCV000706594\|RCV000773177\|RCV003442055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108188161	108188161	11:g.108188161A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6260A>C (p.Glu2087Ala)	472	ATM	Uncertain significance	-1	RCV002797185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188161	108188161	NC_000011.9:g.108188161A>C	-
NM_000051.4(ATM):c.6262A>G (p.Asn2088Asp)	472	ATM	Uncertain significance	1205444700	RCV000581961\|RCV001853899;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188163	108188163	NC_000011.9:g.108188163A>G	ClinGen:CA382551891	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6263A>G (p.Asn2088Ser)	472	ATM	Uncertain significance	2084783116	RCV001041272\|RCV001251299;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108188164	108188164	11:g.108188164A>G	-
NM_000051.4(ATM):c.6267A>C (p.Lys2089Asn)	472	ATM	Uncertain significance	863224577	RCV000199689\|RCV000222894;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188168	108188168	NC_000011.9:g.108188168A>C	ClinGen:CA338789	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6269_6275dup (p.Cys2092Ter)	472	ATM	Pathogenic	-1	RCV003041700;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188168	108188169	NC_000011.9:g.108188170_108188176dup	-
NM_000051.4(ATM):c.6268G>A (p.Asp2090Asn)	472	ATM	Uncertain significance	915524411	RCV000564078\|RCV000794929;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188169	108188169	NC_000011.9:g.108188169G>A	ClinGen:CA228403258	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6268G>T (p.Asp2090Tyr)	472	ATM	Uncertain significance	915524411	RCV001025055\|RCV001344200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188169	108188169	11:g.108188169G>T	-
NM_000051.4(ATM):c.6269A>C (p.Asp2090Ala)	472	ATM	Uncertain significance	1555114696	RCV000627983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188170	108188170	NC_000011.9:g.108188170A>C	ClinGen:CA382551934	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6271T>G (p.Trp2091Gly)	472	ATM	Uncertain significance	2084784301	RCV001038730\|RCV002363563;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188172	108188172	11:g.108188172T>G	-
NM_000051.4(ATM):c.6271T>A (p.Trp2091Arg)	472	ATM	Uncertain significance	2084784301	RCV001294792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188172	108188172	108188172	-
NM_000051.4(ATM):c.6271T>C (p.Trp2091Arg)	472	ATM	Uncertain significance	2084784301	RCV001315201;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188172	108188172	108188172	-
NM_000051.4(ATM):c.6272G>A (p.Trp2091Ter)	472	ATM	Pathogenic	1060501712	RCV000467316;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188173	108188173	NC_000011.9:g.108188173G>A	ClinGen:CA16613098	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6273del (p.Trp2091fs)	472	ATM	Pathogenic/Likely pathogenic	1565503137	RCV000768150\|RCV001280579\|RCV003453588;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188173	108188173	NC_000011.9:g.108188174del	-
NM_000051.4(ATM):c.6273G>A (p.Trp2091Ter)	472	ATM	Pathogenic	2136166539	RCV001983073\|RCV003170181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188174	108188174	108188174	-
NM_000051.4(ATM):c.6276T>C (p.Cys2092=)	472	ATM	Likely benign	2136166722	RCV001394119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188177	108188177		-
NM_000051.4(ATM):c.6277C>T (p.Pro2093Ser)	472	ATM	Conflicting interpretations of pathogenicity	946942912	RCV000571659\|RCV000797659\|RCV003459269;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188178	108188178	NC_000011.9:g.108188178C>T	ClinGen:CA228403260	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6279T>C (p.Pro2093=)	472	ATM	Likely benign	141370828	RCV001025070\|RCV001495129;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188180	108188180		-
NM_000051.4(ATM):c.6280del (p.Glu2094fs)	472	ATM	Pathogenic	1565503198	RCV000690082\|RCV001025079\|RCV002249408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188181	108188181	11:g.108188181_108188181del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6283_6288del (p.Leu2095_Glu2096del)	472	ATM	Uncertain significance	1565503206	RCV000708656\|RCV001861932\|RCV003321725;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108188181	108188186	NC_000011.9:g.108188184_108188189del	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6280G>T (p.Glu2094Ter)	472	ATM	Likely pathogenic	1565503182	RCV000779786\|RCV003472311;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188181	108188181	NC_000011.9:g.108188181G>T	-
NM_000051.4(ATM):c.6283C>T (p.Leu2095=)	472	ATM	Likely benign	2084785926	RCV002194199;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188184	108188184		-
NM_000051.4(ATM):c.6285A>G (p.Leu2095=)	472	ATM	Likely benign	1555114732	RCV000582925\|RCV001755970\|RCV002061672;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188186	108188186		ClinGen:CA476675994	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6287A>G (p.Glu2096Gly)	472	ATM	Uncertain significance	1565503246	RCV000703747\|RCV000774979;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188188	108188188	11:g.108188188A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6289G>T (p.Glu2097Ter)	472	ATM	Pathogenic/Likely pathogenic	1555114737	RCV000563760\|RCV001384267;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188190	108188190	NC_000011.9:g.108188190G>T	ClinGen:CA382552045	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6293T>C (p.Leu2098Pro)	472	ATM	Uncertain significance	587780631	RCV000122870\|RCV000165084\|RCV000235401\|RCV003320098\|RCV003467084;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188194	108188194	NC_000011.9:g.108188194T>C	ClinGen:CA192478	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6293T>G (p.Leu2098Arg)	472	ATM	Uncertain significance	587780631	RCV000706311\|RCV001025095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188194	108188194	11:g.108188194T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6295C>G (p.His2099Asp)	472	ATM	Uncertain significance	2084787307	RCV001040213\|RCV003393799;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108188196	108188196	11:g.108188196C>G	-
NM_000051.4(ATM):c.6295del (p.His2099fs)	472	ATM	Pathogenic	2136167830	RCV001380508;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188196	108188196	108188195	-
NM_000051.4(ATM):c.6296A>G (p.His2099Arg)	472	ATM	Uncertain significance	587782802	RCV000132361\|RCV000545569\|RCV003467192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188197	108188197	11:g.108188197A>G	ClinGen:CA169700	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6300C>G (p.Tyr2100Ter)	472	ATM	Pathogenic	1591789955	RCV001025108\|RCV001234892;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188201	108188201	11:g.108188201C>G	-
NM_000051.4(ATM):c.6301C>G (p.Gln2101Glu)	472	ATM	Uncertain significance	876660164	RCV000216665\|RCV001853614;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188202	108188202	11:g.108188202C>G	ClinGen:CA10579217	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6301C>A (p.Gln2101Lys)	472	ATM	Uncertain significance	876660164	RCV001325440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188202	108188202	108188202	-
NM_000051.4(ATM):c.6302A>C (p.Gln2101Pro)	472	ATM	Uncertain significance	1565503316	RCV000697487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188203	108188203	11:g.108188203A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6303A>G (p.Gln2101=)	472	ATM	Conflicting interpretations of pathogenicity	876659325	RCV000219895\|RCV001222275;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188204	108188204		ClinGen:CA10579218	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6304G>T (p.Ala2102Ser)	472	ATM	Uncertain significance	1565503340	RCV001235509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188205	108188205	11:g.108188205G>T	-
NM_000051.4(ATM):c.6305C>T (p.Ala2102Val)	472	ATM	Uncertain significance	1591790037	RCV001025114\|RCV001664627\|RCV001862311;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188206	108188206	11:g.108188206C>T	-
NM_000051.4(ATM):c.6306A>C (p.Ala2102=)	472	ATM	Likely benign	2136168477	RCV001506469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188207	108188207		-
NM_000051.4(ATM):c.6309A>G (p.Ala2103=)	472	ATM	Likely benign	2084789463	RCV002092866\|RCV003303699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188210	108188210		-
NM_000051.4(ATM):c.6310T>G (p.Trp2104Gly)	472	ATM	Uncertain significance	-1	RCV002914322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188211	108188211	NC_000011.9:g.108188211T>G	-
NM_000051.4(ATM):c.6311G>C (p.Trp2104Ser)	472	ATM	Uncertain significance	1064794143	RCV000480277\|RCV000563704\|RCV001362676;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188212	108188212	11:g.108188212G>C	ClinGen:CA16619211	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6311G>A (p.Trp2104Ter)	472	ATM	Pathogenic	1064794143	RCV000705717\|RCV002352211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188212	108188212	11:g.108188212G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6312G>C (p.Trp2104Cys)	472	ATM	Uncertain significance	-1	RCV002296656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188213	108188213	108188213	-
NM_000051.4(ATM):c.6313A>G (p.Arg2105Gly)	472	ATM	Uncertain significance	879253983	RCV000236852\|RCV000471131\|RCV000570295;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188214	108188214	NC_000011.9:g.108188214A>G	ClinGen:CA10584357	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6315G>C (p.Arg2105Ser)	472	ATM	Conflicting interpretations of pathogenicity	587780632	RCV000122871\|RCV000131258\|RCV000589612\|RCV001293417\|RCV001356310\|RCV003398740\|RCV003467085;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:2	11	108188216	108188216	NC_000011.9:g.108188216G>C	ClinGen:CA167882	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6317A>T (p.Asn2106Ile)	472	ATM	Uncertain significance	587780633	RCV000122872\|RCV000574910\|RCV001762276;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108188218	108188218	NC_000011.9:g.108188218A>T	ClinGen:CA332345	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6318T>C (p.Asn2106=)	472	ATM	Conflicting interpretations of pathogenicity	864622730	RCV000206216\|RCV000571280\|RCV001561845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108188219	108188219		ClinGen:CA350275	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6320T>C (p.Met2107Thr)	472	ATM	Uncertain significance	1555114792	RCV000573161\|RCV001764650\|RCV002528005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188221	108188221	NC_000011.9:g.108188221T>C	ClinGen:CA382552207	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6321G>A (p.Met2107Ile)	472	ATM	Uncertain significance	765763407	RCV001962748;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188222	108188222	108188222	-
NM_000051.4(ATM):c.6321G>C (p.Met2107Ile)	472	ATM	Uncertain significance	-1	RCV003095335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188222	108188222	NC_000011.9:g.108188222G>C	-
NM_000051.4(ATM):c.6323dup (p.Trp2109fs)	472	ATM	Pathogenic	2136169465	RCV001389193\|RCV002357295;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188223	108188224	108188223	-
NM_000051.4(ATM):c.6323A>G (p.Gln2108Arg)	472	ATM	Uncertain significance	773891864	RCV000163479\|RCV000476875\|RCV000486607\|RCV003467278;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188224	108188224	11:g.108188224A>G	ClinGen:CA188402	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6323A>C (p.Gln2108Pro)	472	ATM	Uncertain significance	773891864	RCV000800423\|RCV001177514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188224	108188224	11:g.108188224A>C	-
NM_000051.4(ATM):c.6323A>T (p.Gln2108Leu)	472	ATM	Uncertain significance	773891864	RCV001368909\|RCV002357254;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188224	108188224	108188224	-
NM_000051.4(ATM):c.6325dup (p.Trp2109fs)	472	ATM	Pathogenic/Likely pathogenic	1555114812	RCV000672324\|RCV002360700;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188225	108188226	11:g.108188225_108188226insT	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6324G>T (p.Gln2108His)	472	ATM	Uncertain significance	2136169496	RCV001373060\|RCV002463465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188225	108188225	108188225	-
NM_000051.4(ATM):c.6324G>A (p.Gln2108=)	472	ATM	Likely benign	-1	RCV003064539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188225	108188225		-
NM_000051.4(ATM):c.6325T>G (p.Trp2109Gly)	472	ATM	Conflicting interpretations of pathogenicity	1060501654	RCV000463293\|RCV000478293\|RCV000562429\|RCV003470432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188226	108188226	NC_000011.9:g.108188226T>G	ClinGen:CA16613408	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6325T>C (p.Trp2109Arg)	472	ATM	Uncertain significance	1060501654	RCV001944783;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188226	108188226	108188226	-
NM_000051.4(ATM):c.6328dup (p.Asp2110fs)	472	ATM	Pathogenic	-1	RCV002876739;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188226	108188227	NC_000011.9:g.108188229dup	-
NM_000051.4(ATM):c.6326G>A (p.Trp2109Ter)	472	ATM	Pathogenic	587782114	RCV000130633\|RCV000521744\|RCV001857452\|RCV002492505\|RCV003467150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108188227	108188227	11:g.108188227G>A	ClinGen:CA166794	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6330C>T (p.Asp2110=)	472	ATM	Likely benign	759029705	RCV000198220\|RCV000215030\|RCV000420799\|RCV001722105\|RCV001798664;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MedGen:CN221562	11	108188231	108188231		ClinGen:CA337733	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6330C>G (p.Asp2110Glu)	472	ATM	Uncertain significance	759029705	RCV000574099\|RCV001350510;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188231	108188231	NC_000011.9:g.108188231C>G	ClinGen:CA6265904	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6332A>G (p.His2111Arg)	472	ATM	Uncertain significance	876658300	RCV000226701\|RCV000223653\|RCV000478549\|RCV001194327\|RCV003468990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188233	108188233	11:g.108188233A>G	ClinGen:CA10579219	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6332A>C (p.His2111Pro)	472	ATM	Uncertain significance	876658300	RCV001189323\|RCV001310018;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188233	108188233	11:g.108188233A>C	-
NM_000051.4(ATM):c.6333_6341dup (p.Ser2114_Val2115insCysThrSer)	472	ATM	Uncertain significance	2084792995	RCV001306548;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188233	108188234	108188233	-
NM_000051.4(ATM):c.6333T>C (p.His2111=)	472	ATM	Likely benign	55756349	RCV000122873\|RCV000162702\|RCV000433086\|RCV001711397\|RCV003315810;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188234	108188234		ClinGen:CA186772
NM_000051.4(ATM):c.6334T>A (p.Cys2112Ser)	472	ATM	Uncertain significance	2136170176	RCV001369800;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188235	108188235	108188235	-
NM_000051.4(ATM):c.6335G>T (p.Cys2112Phe)	472	ATM	Uncertain significance	1591790360	RCV000796908;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188236	108188236	11:g.108188236G>T	-
NM_000051.4(ATM):c.6336C>T (p.Cys2112=)	472	ATM	Likely benign	755845798	RCV000557971\|RCV001175896;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188237	108188237		ClinGen:CA6265905	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6337A>G (p.Thr2113Ala)	472	ATM	Uncertain significance	1555114835	RCV000627930\|RCV002257861;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188238	108188238	NC_000011.9:g.108188238A>G	ClinGen:CA382552306	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6337A>C (p.Thr2113Pro)	472	ATM	Uncertain significance	-1	RCV002815781;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188238	108188238	NC_000011.9:g.108188238A>C	-
NM_000051.4(ATM):c.6338C>G (p.Thr2113Ser)	472	ATM	Conflicting interpretations of pathogenicity	573290117	RCV000221486\|RCV000533728\|RCV001174836\|RCV003227722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108188239	108188239	11:g.108188239C>G	ClinGen:CA6265906	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6341C>A (p.Ser2114Tyr)	472	ATM	Uncertain significance	1591790425	RCV000805102\|RCV002360972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188242	108188242	11:g.108188242C>A	-
NM_000051.4(ATM):c.6342C>T (p.Ser2114=)	472	ATM	Likely benign	754020535	RCV000425276\|RCV000550741\|RCV000564819;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188243	108188243		ClinGen:CA6265907	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile)	472	ATM	Uncertain significance	587780634	RCV000122874\|RCV000131631\|RCV000237090\|RCV001269134\|RCV001798397\|RCV002288612\|RCV002483232;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:000	11	108188244	108188244	NC_000011.9:g.108188244G>A	ClinGen:CA168504	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6343G>C (p.Val2115Leu)	472	ATM	Uncertain significance	587780634	RCV000476158\|RCV000581801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188244	108188244	NC_000011.9:g.108188244G>C	ClinGen:CA6265908	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6345_6347+7dup	472	ATM	Uncertain significance	2136170862	RCV001977509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188245	108188246	108188245	-
NM_000051.4(ATM):c.6346A>C (p.Ser2116Arg)	472	ATM	Uncertain significance	2084794474	RCV001220884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188247	108188247	11:g.108188247A>C	-
NM_000051.4(ATM):c.6347+1G>A	472	ATM	Pathogenic/Likely pathogenic	1057517120	RCV000409839\|RCV001180642;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108188249	108188249	NC_000011.9:g.108188249G>A	ClinGen:CA16041422	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6347+3A>G	472	ATM	Uncertain significance	1555114854	RCV000568916\|RCV000698682;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188251	108188251	NC_000011.9:g.108188251A>G	ClinGen:CA658656217	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6347+4A>G	472	ATM	Conflicting interpretations of pathogenicity	1342227995	RCV000567413\|RCV000602437\|RCV000698588;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188252	108188252	NC_000011.9:g.108188252A>G	ClinGen:CA601725089	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6347+6A>C	472	ATM	Conflicting interpretations of pathogenicity	750501197	RCV000583289\|RCV000801369\|RCV001704690;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108188254	108188254	11:g.108188254A>C	ClinGen:CA6265909	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6347+9T>G	472	ATM	Likely benign	-1	RCV002642942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188257	108188257	NC_000011.9:g.108188257T>G	-
NM_000051.4(ATM):c.6347+10T>A	472	ATM	Likely benign	2136171374	RCV001501992;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108188258	108188258	108188258	-
NM_000051.4(ATM):c.6347+31dup	472	ATM	Benign/Likely benign	58978479	RCV001579447\|RCV002070400\|RCV001727906;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108188266	108188267	108188266	-
NM_000051.4(ATM):c.6347+31del	472	ATM	Benign/Likely benign	58978479	RCV000580971\|RCV000625084\|RCV001692235\|RCV001598676;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108188267	108188267	11:g.108188267_108188267del	ClinGen:CA6265912	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6348-989del	472	ATM	Uncertain significance	-1	RCV003049237\|RCV003358055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108189691	108189691	NC_000011.9:g.108189692del	-
NM_000051.4(ATM):c.6348-18C>G	472	ATM	Likely benign	1175043012	RCV001894856;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190663	108190663	108190663	-
NM_000051.4(ATM):c.6348-17T>G	472	ATM	Likely benign	2136217719	RCV002199042;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190664	108190664	108190664	-
NM_000051.4(ATM):c.6348-12C>T	472	ATM	Likely benign	1057521664	RCV000442487\|RCV000580024\|RCV002525361;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190669	108190669	11:g.108190669C>T	ClinGen:CA16606843	C0027672 Hereditary cancer-predisposing syndrome;
NC_000011.9:g.(?_108190671)_(108225611_?)del	472	ATM	Pathogenic	-1	RCV001906079;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190671	108225611	-1	-
NC_000011.9:g.(?_108190671)_(108190795_?)dup	472	ATM	Uncertain significance	-1	RCV003119168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190671	108190795		-
NM_000051.4(ATM):c.6348-9A>T	472	ATM	Conflicting interpretations of pathogenicity	1591099349	RCV000788322\|RCV000988705;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190672	108190672	11:g.108190672A>T	-
NM_000051.4(ATM):c.6348-9A>G	472	ATM	Likely benign	1591099349	RCV002186716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190672	108190672	108190672	-
NM_000051.4(ATM):c.6348-8T>C	472	ATM	Benign/Likely benign	730881292	RCV000159621\|RCV000204288\|RCV000580548\|RCV001084020;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190673	108190673	NC_000011.9:g.108190673T>C	ClinGen:CA298007	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6348-7C>T	472	ATM	Likely benign	-1	RCV002866542;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190674	108190674	NC_000011.9:g.108190674C>T	-
NC_000011.9:g.(?_108190675)_(108190791_?)del	472	ATM	Pathogenic	-1	RCV001381457;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190675	108190791	-1	-
NM_000051.4(ATM):c.6348-5C>A	472	ATM	Conflicting interpretations of pathogenicity	1388651064	RCV001485881\|RCV002368493;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190676	108190676	108190676	-
NM_000051.4(ATM):c.6348-5C>T	472	ATM	Likely benign	1388651064	RCV002124381;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190676	108190676	108190676	-
NM_000051.4(ATM):c.6348-3C>T	472	ATM	Uncertain significance	946541820	RCV000558871\|RCV000565699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190678	108190678	11:g.108190678C>T	ClinGen:CA228405662	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6348-2A>G	472	ATM	Likely pathogenic	864622367	RCV000204096;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190679	108190679	NC_000011.9:g.108190679A>G	ClinGen:CA348351	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6348-1G>A	472	ATM	Likely pathogenic	1057517302	RCV000408965\|RCV002365447\|RCV003470352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190680	108190680	11:g.108190680G>A	ClinGen:CA16041423	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6348-1G>C	472	ATM	Likely pathogenic	1057517302	RCV001025161\|RCV001873390;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190680	108190680	11:g.108190680G>C	-
NM_000051.4(ATM):c.6349A>G (p.Lys2117Glu)	472	ATM	Uncertain significance	-1	RCV003106949;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190682	108190682	NC_000011.9:g.108190682A>G	-
NM_000051.4(ATM):c.6351del (p.Glu2118fs)	472	ATM	Pathogenic	-1	RCV002847927;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190682	108190682	NC_000011.9:g.108190684del	-
NM_000051.4(ATM):c.6350AAG[1] (p.Glu2118del)	472	ATM	Uncertain significance	2085076333	RCV001232688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190683	108190685	11:g.108190683_108190685del	-
NM_000051.4(ATM):c.6352del (p.Glu2118fs)	472	ATM	Pathogenic/Likely pathogenic	1555116357	RCV000657348\|RCV001054327\|RCV002360675;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190685	108190685	11:g.108190685_108190685del	-	CN517202 not provided;
NM_000051.4(ATM):c.6354A>G (p.Glu2118=)	472	ATM	Likely benign	2136218685	RCV001474008;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190687	108190687		-
NM_000051.4(ATM):c.6355G>T (p.Val2119Leu)	472	ATM	Uncertain significance	1266938537	RCV000534918\|RCV000570453\|RCV001591184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108190688	108190688	11:g.108190688G>T	ClinGen:CA382553167	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6357A>T (p.Val2119=)	472	ATM	Benign/Likely benign	1060504295	RCV000472380\|RCV001188079\|RCV001653847;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108190690	108190690		ClinGen:CA16613103	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6357A>G (p.Val2119=)	472	ATM	Likely benign	1060504295	RCV000628282\|RCV001448348\|RCV002368076;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190690	108190690		ClinGen:CA476676058	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6359A>G (p.Glu2120Gly)	472	ATM	Uncertain significance	1591099714	RCV001956877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190692	108190692	108190692	-
NM_000051.4(ATM):c.6360A>T (p.Glu2120Asp)	472	ATM	Uncertain significance	1565508657	RCV000702795;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190693	108190693	NC_000011.9:g.108190693A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6364_6365del (p.Thr2122fs)	472	ATM	Pathogenic/Likely pathogenic	2136219026	RCV001867062\|RCV002258318;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190697	108190698	108190696	-
NM_000051.4(ATM):c.6365C>G (p.Thr2122Ser)	472	ATM	Uncertain significance	1555116369	RCV000548251\|RCV003362818;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190698	108190698	11:g.108190698C>G	ClinGen:CA382553215	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6365C>T (p.Thr2122Ile)	472	ATM	Uncertain significance	-1	RCV003043838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190698	108190698	NC_000011.9:g.108190698C>T	-
NM_000051.4(ATM):c.6367A>G (p.Ser2123Gly)	472	ATM	Uncertain significance	876659773	RCV000219988\|RCV000627902\|RCV001818534;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108190700	108190700	11:g.108190700A>G	ClinGen:CA10579220	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6368G>C (p.Ser2123Thr)	472	ATM	Uncertain significance	1064794104	RCV000819077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190701	108190701	11:g.108190701G>C	-
NM_000051.4(ATM):c.6370dup (p.Tyr2124fs)	472	ATM	Pathogenic	2136219240	RCV001384155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190701	108190702	108190701	-
NM_000051.4(ATM):c.6369_6370del (p.Ser2123fs)	472	ATM	Pathogenic/Likely pathogenic	1555116381	RCV000573555\|RCV001858066\|RCV003470808;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190702	108190703	11:g.108190702_108190703del	ClinGen:CA658656219	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6371_6372insG (p.Tyr2124Ter)	472	ATM	Pathogenic	2085078278	RCV001038253\|RCV001732018\|RCV002264996\|RCV002363561\|RCV003467717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190704	108190705	11:g.108190704_108190705insG	-
NM_000051.4(ATM):c.6373del (p.His2125fs)	472	ATM	Pathogenic	878853530	RCV000229552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190705	108190705	NC_000011.9:g.108190706del	ClinGen:CA10582838	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6372C>T (p.Tyr2124=)	472	ATM	Likely benign	904589402	RCV001025188\|RCV002067685;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190705	108190705		-
NM_000051.4(ATM):c.6373C>T (p.His2125Tyr)	472	ATM	Uncertain significance	1201879809	RCV000575933\|RCV000688020;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190706	108190706	NC_000011.9:g.108190706C>T	ClinGen:CA382553255	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6374A>T (p.His2125Leu)	472	ATM	Uncertain significance	730881381	RCV000582226\|RCV000628057;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190707	108190707	11:g.108190707A>T	ClinGen:CA382553260	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6375T>C (p.His2125=)	472	ATM	Likely benign	1591099942	RCV000979942\|RCV001025191;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190708	108190708		-
NM_000051.4(ATM):c.6378A>G (p.Glu2126=)	472	ATM	Likely benign	1060504297	RCV000459564\|RCV000775803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190711	108190711		ClinGen:CA16613470	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6380C>G (p.Ser2127Ter)	472	ATM	Pathogenic	2136219729	RCV001941936;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190713	108190713	108190713	-
NM_000051.4(ATM):c.6380C>A (p.Ser2127Ter)	472	ATM	Pathogenic	-1	RCV002872329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190713	108190713	NC_000011.9:g.108190713C>A	-
NM_000051.4(ATM):c.6383dup (p.Leu2128fs)	472	ATM	Pathogenic	1198014194	RCV001025204\|RCV001873392;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190714	108190715	11:g.108190714_108190715insT	-
NM_000051.4(ATM):c.6382T>C (p.Leu2128=)	472	ATM	Conflicting interpretations of pathogenicity	753646931	RCV000166269\|RCV000200503\|RCV000432613;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108190715	108190715		ClinGen:CA195413	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6384G>C (p.Leu2128Phe)	472	ATM	Uncertain significance	1060501629	RCV000457656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190717	108190717	NC_000011.9:g.108190717G>C	ClinGen:CA16613184	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6384G>A (p.Leu2128=)	472	ATM	Likely benign	1060501629	RCV000981408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190717	108190717		-
NM_000051.4(ATM):c.6384G>T (p.Leu2128Phe)	472	ATM	Uncertain significance	1060501629	RCV002017191;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190717	108190717	108190717	-
NM_000051.4(ATM):c.6385T>G (p.Tyr2129Asp)	472	ATM	Conflicting interpretations of pathogenicity	876658542	RCV000219813\|RCV000449493;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190718	108190718	11:g.108190718T>G	ClinGen:CA10579221	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6385T>C (p.Tyr2129His)	472	ATM	Uncertain significance	876658542	RCV000579988\|RCV002529084;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190718	108190718	NC_000011.9:g.108190718T>C	ClinGen:CA382553307	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6387C>G (p.Tyr2129Ter)	472	ATM	Pathogenic	2085081161	RCV001066538;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190720	108190720	11:g.108190720C>G	-
NM_000051.4(ATM):c.6388_6392del (p.Asn2130fs)	472	ATM	Pathogenic	2136220112	RCV001388865;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190720	108190724	108190719	-
NM_000051.4(ATM):c.6387C>T (p.Tyr2129=)	472	ATM	Likely benign	2085081161	RCV002088168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190720	108190720		-
NM_000051.4(ATM):c.6388A>C (p.Asn2130His)	472	ATM	Uncertain significance	2085081321	RCV001315043;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190721	108190721	108190721	-
NM_000051.4(ATM):c.6389A>G (p.Asn2130Ser)	472	ATM	Uncertain significance	2136220181	RCV001804264\|RCV001869501;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190722	108190722	108190722	-
NM_000051.4(ATM):c.6390T>C (p.Asn2130=)	472	ATM	Likely benign	1555116433	RCV000573025\|RCV002060384;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190723	108190723		ClinGen:CA476676075	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6391G>C (p.Ala2131Pro)	472	ATM	Uncertain significance	-1	RCV003340947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190724	108190724		-
NM_000051.4(ATM):c.6392C>A (p.Ala2131Asp)	472	ATM	Uncertain significance	1060501594	RCV000468871\|RCV000480424\|RCV000570727\|RCV003470420;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190725	108190725	NC_000011.9:g.108190725C>A	ClinGen:CA16613185	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6393T>C (p.Ala2131=)	472	ATM	Likely benign	1591100144	RCV001025213\|RCV002067686;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190726	108190726		-
NM_000051.4(ATM):c.6394C>T (p.Leu2132=)	472	ATM	Likely benign	551408889	RCV000541538\|RCV001025214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190727	108190727		ClinGen:CA6265928	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6394C>G (p.Leu2132Val)	472	ATM	Uncertain significance	551408889	RCV001063297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190727	108190727	11:g.108190727C>G	-
NM_000051.4(ATM):c.6396A>G (p.Leu2132=)	472	ATM	Likely benign	370537345	RCV000163612\|RCV000196587\|RCV000439854\|RCV001704168;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108190729	108190729		ClinGen:CA188763	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6398_6401dup (p.Leu2135fs)	472	ATM	Pathogenic	-1	RCV003043163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190729	108190730	NC_000011.9:g.108190731_108190734dup	-
NM_000051.4(ATM):c.6397C>T (p.Gln2133Ter)	472	ATM	Pathogenic	876658163	RCV000219604\|RCV000472831\|RCV000657712\|RCV003468981;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190730	108190730	11:g.108190730C>T	ClinGen:CA10579222	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6399del (p.Gln2133fs)	472	ATM	Pathogenic	1555116451	RCV000549484\|RCV001525107;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190731	108190731	11:g.108190731_108190731del	ClinGen:CA658656225	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6399A>G (p.Gln2133=)	472	ATM	Likely benign	750614487	RCV000583692\|RCV000697011;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190732	108190732		ClinGen:CA6265929	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6400T>C (p.Ser2134Pro)	472	ATM	Uncertain significance	758446561	RCV000584725\|RCV000801724\|RCV003459438;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190733	108190733	11:g.108190733T>C	ClinGen:CA6265930	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6403_6404del (p.Leu2135fs)	472	ATM	Pathogenic	2085083193	RCV001049218\|RCV001178938;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190733	108190734	11:g.108190733_108190734del	-
NM_000051.4(ATM):c.6404_6405insTT (p.Leu2135_Arg2136insTer)	472	ATM	Pathogenic/Likely pathogenic	587782554	RCV000206421\|RCV000235780\|RCV000582077\|RCV002279951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190736	108190737	11:g.108190736_108190737insTT	ClinGen:CA350459	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6404dup (p.Arg2136fs)	472	ATM	Pathogenic	587782554	RCV000525174;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190736	108190737	11:g.108190736_108190737insT	ClinGen:CA658656227	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6403C>G (p.Leu2135Val)	472	ATM	Uncertain significance	2085083391	RCV001205690\|RCV002365925;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190736	108190736	11:g.108190736C>G	-
NM_000051.4(ATM):c.6403C>T (p.Leu2135=)	472	ATM	Likely benign	-1	RCV002889469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190736	108190736		-
NM_000051.4(ATM):c.6404T>C (p.Leu2135Pro)	472	ATM	Uncertain significance	1591100266	RCV000806306\|RCV002360977\|RCV002465784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108190737	108190737	11:g.108190737T>C	-
NM_000051.4(ATM):c.6406dup (p.Arg2136fs)	472	ATM	Pathogenic	2136220927	RCV001994716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190737	108190738	108190737	-
NM_000051.4(ATM):c.6405A>G (p.Leu2135=)	472	ATM	Likely benign	2085084061	RCV001177552\|RCV002559726;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190738	108190738		-
NM_000051.4(ATM):c.6407G>A (p.Arg2136Lys)	472	ATM	Uncertain significance	2085084255	RCV001324648;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190740	108190740	108190740	-
NM_000051.4(ATM):c.6409G>C (p.Asp2137His)	472	ATM	Uncertain significance	1389038955	RCV001025233\|RCV001271174;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190742	108190742	11:g.108190742G>C	-
NM_000051.4(ATM):c.6411C>G (p.Asp2137Glu)	472	ATM	Uncertain significance	780299607	RCV000221609\|RCV000554925\|RCV000590406;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108190744	108190744	11:g.108190744C>G	ClinGen:CA6265931	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6415_6416del (p.Glu2139fs)	472	ATM	Pathogenic	863225466	RCV000202419\|RCV000236729\|RCV000507916\|RCV001025242\|RCV003462358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190745	108190746	NC_000011.9:g.108190746GA[1]	ClinGen:CA339613	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6412A>G (p.Arg2138Gly)	472	ATM	Uncertain significance	752069869	RCV000213307\|RCV000791592\|RCV002225521\|RCV003462463;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190745	108190745	11:g.108190745A>G	ClinGen:CA6265932	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6412A>C (p.Arg2138=)	472	ATM	Likely benign	752069869	RCV001409579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190745	108190745		-
NM_000051.4(ATM):c.6414A>G (p.Arg2138=)	472	ATM	Likely benign	1591100396	RCV001025241\|RCV001504258;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190747	108190747		-
NM_000051.4(ATM):c.6415G>T (p.Glu2139Ter)	472	ATM	Pathogenic/Likely pathogenic	1339238483	RCV000806638\|RCV001644830\|RCV001189507\|RCV003155959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0100273,MONDO:MONDO:0005401,MeSH:D003110,MedGen:C0009375\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:1	11	108190748	108190748	11:g.108190748G>T	-
NM_000051.4(ATM):c.6417A>G (p.Glu2139=)	472	ATM	Likely benign	2136221364	RCV001405287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190750	108190750		-
NM_000051.4(ATM):c.6419dup (p.Ser2141fs)	472	ATM	Pathogenic	-1	RCV002796142;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190750	108190751	NC_000011.9:g.108190752dup	-
NM_000051.4(ATM):c.6418T>C (p.Phe2140Leu)	472	ATM	Uncertain significance	1397647612	RCV000580061\|RCV000806982\|RCV003153751;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108190751	108190751	NC_000011.9:g.108190751T>C	ClinGen:CA15067465	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6419T>G (p.Phe2140Cys)	472	ATM	Uncertain significance	1297621371	RCV000686427\|RCV001025244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190752	108190752	NC_000011.9:g.108190752T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6420C>A (p.Phe2140Leu)	472	ATM	Uncertain significance	587780635	RCV000122875\|RCV000236625\|RCV000574605\|RCV003460866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108190753	108190753	NC_000011.9:g.108190753C>A	ClinGen:CA332348	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6420C>G (p.Phe2140Leu)	472	ATM	Uncertain significance	587780635	RCV001990620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190753	108190753	108190753	-
NM_000051.4(ATM):c.6424A>G (p.Thr2142Ala)	472	ATM	Uncertain significance	1263398076	RCV000568520\|RCV000820050\|RCV001591318\|RCV001821656;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108190757	108190757	NC_000011.9:g.108190757A>G	ClinGen:CA382553509	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6425_6435del (p.Thr2142fs)	472	ATM	Pathogenic	2085086552	RCV001230083;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190757	108190767	11:g.108190757_108190767del	-
NM_000051.4(ATM):c.6425C>T (p.Thr2142Ile)	472	ATM	Uncertain significance	1809463261	RCV001204073;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190758	108190758	11:g.108190758C>T	-
NM_000051.4(ATM):c.6426A>G (p.Thr2142=)	472	ATM	Likely benign	1591100486	RCV002065946\|RCV002363378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190759	108190759		-
NM_000051.4(ATM):c.6429T>C (p.Phe2143=)	472	ATM	Likely benign	2136221811	RCV001445164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190762	108190762		-
NM_000051.4(ATM):c.6431A>G (p.Tyr2144Cys)	472	ATM	Uncertain significance	1555116507	RCV000579530\|RCV002476262;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190764	108190764	NC_000011.9:g.108190764A>G	ClinGen:CA382553553	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6432T>C (p.Tyr2144=)	472	ATM	Likely benign	-1	RCV003028838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190765	108190765		-
NM_000051.4(ATM):c.6436A>G (p.Ser2146Gly)	472	ATM	Uncertain significance	2136222103	RCV001889790\|RCV003164245;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190769	108190769	108190769	-
NM_000051.4(ATM):c.6437G>C (p.Ser2146Thr)	472	ATM	Conflicting interpretations of pathogenicity	56815840	RCV000120154\|RCV000131611\|RCV000710676\|RCV001080465\|RCV002225364\|RCV003315729\|RCV003149825;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C03461	11	108190770	108190770	11:g.108190770G>C	ClinGen:CA157159	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6437G>A (p.Ser2146Asn)	472	ATM	Uncertain significance	56815840	RCV001202928\|RCV003226441;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108190770	108190770	11:g.108190770G>A	-
NM_000051.4(ATM):c.6438T>A (p.Ser2146Arg)	472	ATM	Uncertain significance	748544160	RCV000572267\|RCV001366884;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190771	108190771	NC_000011.9:g.108190771T>A	ClinGen:CA6265934	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6438T>G (p.Ser2146Arg)	472	ATM	Uncertain significance	748544160	RCV001071644;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190771	108190771	11:g.108190771T>G	-
NM_000051.4(ATM):c.6444dup (p.Tyr2149fs)	472	ATM	Pathogenic	1555116533	RCV000581433\|RCV000703122;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190774	108190775	NC_000011.9:g.108190777dup	ClinGen:CA658683719	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6441C>G (p.Leu2147=)	472	ATM	Likely benign	-1	RCV002824601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190774	108190774		-
NM_000051.4(ATM):c.6443A>T (p.Lys2148Ile)	472	ATM	Uncertain significance	730881382	RCV000159747\|RCV001038957\|RCV002362847\|RCV002307416;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108190776	108190776	NC_000011.9:g.108190776A>T	ClinGen:CA298311	CN169374 not specified;
NM_000051.4(ATM):c.6443A>G (p.Lys2148Arg)	472	ATM	Conflicting interpretations of pathogenicity	730881382	RCV000218229\|RCV000274807\|RCV000529492;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190776	108190776	11:g.108190776A>G	ClinGen:CA6265935	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6443A>C (p.Lys2148Thr)	472	ATM	Uncertain significance	730881382	RCV000795913\|RCV001186722\|RCV002477811;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108190776	108190776	11:g.108190776A>C	-
NM_000051.4(ATM):c.6444A>G (p.Lys2148=)	472	ATM	Uncertain significance	2136222477	RCV001893332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190777	108190777		-
NM_000051.4(ATM):c.6446A>G (p.Tyr2149Cys)	472	ATM	Uncertain significance	-1	RCV003079133;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190779	108190779	NC_000011.9:g.108190779A>G	-
NM_000051.4(ATM):c.6447T>C (p.Tyr2149=)	472	ATM	Conflicting interpretations of pathogenicity	1057519167	RCV000416147\|RCV001080204\|RCV002365457;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190780	108190780		ClinGen:CA16043811	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6448G>A (p.Ala2150Thr)	472	ATM	Uncertain significance	1591100678	RCV001048835\|RCV001524603;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190781	108190781	11:g.108190781G>A	-
NM_000051.4(ATM):c.6450dup (p.Arg2151fs)	472	ATM	Pathogenic	2136222670	RCV001390981\|RCV002368234;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108190781	108190782	108190781	-
NM_000051.4(ATM):c.6449C>T (p.Ala2150Val)	472	ATM	Uncertain significance	2136222623	RCV001368853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190782	108190782	108190782	-
NM_000051.4(ATM):c.6450C>T (p.Ala2150=)	472	ATM	Likely benign	2136222693	RCV002128335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190783	108190783		-
NM_000051.4(ATM):c.6452G>C (p.Arg2151Thr)	472	ATM	Uncertain significance	2136222746	RCV001977826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190785	108190785	108190785	-
NM_000051.4(ATM):c.6452G>A (p.Arg2151Lys)	472	ATM	Uncertain significance	-1	RCV003032686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190785	108190785	NC_000011.9:g.108190785G>A	-
NM_000051.4(ATM):c.6452+1G>T	472	ATM	Pathogenic	1565509194	RCV000679932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190786	108190786	11:g.108190786G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6452+2T>C	472	ATM	Conflicting interpretations of pathogenicity	1064795006	RCV000481420\|RCV000675168;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190787	108190787	11:g.108190787T>C	ClinGen:CA16619213	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6452+5T>A	472	ATM	Conflicting interpretations of pathogenicity	533830556	RCV000205279\|RCV000219944\|RCV001722120\|RCV001798679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN221562	11	108190790	108190790	NC_000011.9:g.108190790T>A	ClinGen:CA349451	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6452+6A>G	472	ATM	Uncertain significance	878853531	RCV000225965;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190791	108190791	NC_000011.9:g.108190791A>G	ClinGen:CA10582839	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6452+6A>T	472	ATM	Uncertain significance	878853531	RCV000772867\|RCV001321029;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190791	108190791	NC_000011.9:g.108190791A>T	-
NM_000051.4(ATM):c.6452+7T>C	472	ATM	Likely benign	1555116551	RCV000582862\|RCV001448588;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190792	108190792	11:g.108190792T>C	ClinGen:CA658683720	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6452+8G>A	472	ATM	Likely benign	2136223026	RCV001475808;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190793	108190793	108190793	-
NM_000051.4(ATM):c.6452+9A>G	472	ATM	Likely benign	771531015	RCV001498252;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190794	108190794	108190794	-
NM_000051.4(ATM):c.6452+11_6452+12del	472	ATM	Likely benign	1187485566	RCV002085912;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190794	108190795	108190793	-
NM_000051.4(ATM):c.6452+17A>G	472	ATM	Likely benign	371044809	RCV000583528\|RCV002061673;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190802	108190802	NC_000011.9:g.108190802A>G	ClinGen:CA6265940	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6452+17A>C	472	ATM	Likely benign	371044809	RCV000608974\|RCV002531710;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190802	108190802	11:g.108190802A>C	ClinGen:CA601725514	CN169374 not specified;
NM_000051.4(ATM):c.6452+17A>T	472	ATM	Likely benign	371044809	RCV001181699\|RCV002067923;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190802	108190802	11:g.108190802A>T	-
NM_000051.4(ATM):c.6452+19dup	472	ATM	Likely benign	-1	RCV002908637;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190803	108190804	NC_000011.9:g.108190804dup	-
NM_000051.4(ATM):c.6452+21del	472	ATM	Likely benign	2136223606	RCV002072566;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190805	108190805	108190804	-
NM_000051.4(ATM):c.6452+20T>G	472	ATM	Uncertain significance	-1	RCV002866068;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108190805	108190805	NC_000011.9:g.108190805T>G	-
NM_000051.4(ATM):c.6453-17T>G	472	ATM	Likely benign	1057522251	RCV000433485\|RCV000775905\|RCV002059027;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192011	108192011	11:g.108192011T>G	ClinGen:CA16606844	CN169374 not specified;
NM_000051.4(ATM):c.6453-15C>A	472	ATM	Likely benign	763296454	RCV000444853\|RCV000579811\|RCV002062730;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192013	108192013	11:g.108192013C>A	ClinGen:CA6265949	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6453-15C>T	472	ATM	Conflicting interpretations of pathogenicity	763296454	RCV000581693\|RCV000603363\|RCV001107551;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192013	108192013	11:g.108192013C>T	ClinGen:CA6265948	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6453-9dup	472	ATM	Benign	-1	RCV003003060;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192013	108192014	NC_000011.9:g.108192019dup	-
NM_000051.4(ATM):c.6453-14T>A	472	ATM	Conflicting interpretations of pathogenicity	1380071831	RCV000771281\|RCV001855736;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192014	108192014	NC_000011.9:g.108192014T>A	-
NM_000051.4(ATM):c.6453-13T>C	472	ATM	Likely benign	1555117056	RCV000583823\|RCV002061674;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192015	108192015	NC_000011.9:g.108192015T>C	ClinGen:CA658683721	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6453-5A>G	472	ATM	Conflicting interpretations of pathogenicity	755177899	RCV001354090\|RCV001455746\|RCV001721479\|RCV003298457;	N	MONDO:MONDO:0002032,MedGen:C0699790\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192023	108192023	11:g.108192023A>G	ClinGen:CA6265951	CN169374 not specified;
NM_000051.4(ATM):c.6453-4C>G	472	ATM	Uncertain significance	2085189849	RCV001327658\|RCV002368106;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192024	108192024	108192024	-
NM_000051.4(ATM):c.6453-3T>C	472	ATM	Conflicting interpretations of pathogenicity	768073845	RCV000419794\|RCV001368282\|RCV002365516;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192025	108192025	11:g.108192025T>C	ClinGen:CA6265952	CN169374 not specified;
NM_000051.4(ATM):c.6453-2A>G	472	ATM	Likely pathogenic	539978799	RCV001203237;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192026	108192026	11:g.108192026A>G	-
NM_000051.4(ATM):c.6453-1_6457del	472	ATM	Likely pathogenic	2136238332	RCV002013423;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192026	108192031	108192025	-
NM_000051.4(ATM):c.6453-1G>C	472	ATM	Likely pathogenic	1555117071	RCV000628171\|RCV003139955;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192027	108192027	NC_000011.9:g.108192027G>C	ClinGen:CA382553804	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6453-1G>A	472	ATM	Likely pathogenic	1555117071	RCV000823376;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192027	108192027	11:g.108192027G>A	-
NM_000051.4(ATM):c.6454G>A (p.Val2152Ile)	472	ATM	Uncertain significance	753158040	RCV001234638\|RCV003373070;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192029	108192029	11:g.108192029G>A	-
NM_000051.4(ATM):c.6456A>G (p.Val2152=)	472	ATM	Likely benign	876660014	RCV000219943\|RCV000466672\|RCV001722196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108192031	108192031		ClinGen:CA10579223	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6463_6478dup (p.Lys2160delinsSerGlyArgAspValTer)	472	ATM	Pathogenic	1555117084	RCV000457251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192036	108192037	NC_000011.9:g.108192038_108192053dup	ClinGen:CA16613471	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6461A>T (p.Glu2154Val)	472	ATM	Uncertain significance	2136238562	RCV002258688\|RCV002295361;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192036	108192036	108192036	-
NM_000051.4(ATM):c.6462A>G (p.Glu2154=)	472	ATM	Likely benign	756453090	RCV000220858\|RCV001457753;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192037	108192037		ClinGen:CA6265954
NM_000051.4(ATM):c.6463G>A (p.Val2155Met)	472	ATM	Uncertain significance	2136238666	RCV001947428;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192038	108192038	108192038	-
NM_000051.4(ATM):c.6464T>C (p.Val2155Ala)	472	ATM	Uncertain significance	1060501532	RCV000476943;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192039	108192039	NC_000011.9:g.108192039T>C	ClinGen:CA16613186	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6465G>A (p.Val2155=)	472	ATM	Conflicting interpretations of pathogenicity	140423883	RCV000163439\|RCV000439900\|RCV000679135\|RCV001083758;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192040	108192040		ClinGen:CA188290	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6468_6472dup (p.Met2158fs)	472	ATM	Pathogenic	2136238826	RCV001387274;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192040	108192041	108192040	-
NM_000051.4(ATM):c.6466G>A (p.Glu2156Lys)	472	ATM	Uncertain significance	1328099740	RCV000627882;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192041	108192041	11:g.108192041G>A	ClinGen:CA382553872	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6468del (p.Glu2157fs)	472	ATM	Pathogenic	-1	RCV002824440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192042	108192042	NC_000011.9:g.108192043del	-
NM_000051.4(ATM):c.6470A>G (p.Glu2157Gly)	472	ATM	Uncertain significance	1591106982	RCV001025304\|RCV001215165;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192045	108192045	11:g.108192045A>G	-
NM_000051.4(ATM):c.6471G>C (p.Glu2157Asp)	472	ATM	Uncertain significance	1555117097	RCV001050899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192046	108192046	11:g.108192046G>C	-
NM_000051.4(ATM):c.6473T>C (p.Met2158Thr)	472	ATM	Uncertain significance	1453101465	RCV000689469\|RCV000772825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192048	108192048	11:g.108192048T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6474G>A (p.Met2158Ile)	472	ATM	Uncertain significance	1565511084	RCV000706540\|RCV001585659\|RCV001025308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192049	108192049	NC_000011.9:g.108192049G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6475T>G (p.Cys2159Gly)	472	ATM	Uncertain significance	150408832	RCV000220825\|RCV000554683\|RCV000587154\|RCV003469006;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192050	108192050	11:g.108192050T>G	ClinGen:CA6265955	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6475T>C (p.Cys2159Arg)	472	ATM	Uncertain significance	150408832	RCV000541936\|RCV002358423\|RCV003338642;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192050	108192050	11:g.108192050T>C	ClinGen:CA382553929	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6477T>G (p.Cys2159Trp)	472	ATM	Uncertain significance	587781789	RCV000130044\|RCV000477118;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192052	108192052	11:g.108192052T>G	ClinGen:CA165598	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6482_6483dup (p.Ser2162fs)	472	ATM	Pathogenic/Likely pathogenic	1057516905	RCV000410862\|RCV003470340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192054	108192055	NC_000011.9:g.108192055GC[3]	ClinGen:CA16041424	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6480G>A (p.Lys2160=)	472	ATM	Likely benign	2136239159	RCV001443769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192055	108192055		-
NM_000051.4(ATM):c.6481C>T (p.Arg2161Cys)	472	ATM	Uncertain significance	1064793958	RCV000483842\|RCV000688167\|RCV001025316;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192056	108192056	11:g.108192056C>T	ClinGen:CA16619214	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6481C>G (p.Arg2161Gly)	472	ATM	Conflicting interpretations of pathogenicity	1064793958	RCV001307554\|RCV002357117;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192056	108192056	108192056	-
NM_000051.4(ATM):c.6482G>A (p.Arg2161His)	472	ATM	Uncertain significance	756626462	RCV000164617\|RCV000235276\|RCV000470832\|RCV003462143;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192057	108192057	11:g.108192057G>A	ClinGen:CA191402	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6484A>G (p.Ser2162Gly)	472	ATM	Uncertain significance	2085194212	RCV001067091\|RCV002365766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192059	108192059	11:g.108192059A>G	-
NM_000051.4(ATM):c.6485G>A (p.Ser2162Asn)	472	ATM	Uncertain significance	-1	RCV002658636;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192060	108192060	NC_000011.9:g.108192060G>A	-
NM_000051.4(ATM):c.6486C>T (p.Ser2162=)	472	ATM	Likely benign	138166710	RCV000419194\|RCV000530712\|RCV000572461\|RCV001704428;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108192061	108192061		ClinGen:CA6265956	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6486C>G (p.Ser2162Arg)	472	ATM	Uncertain significance	138166710	RCV000696095\|RCV002360770\|RCV003465595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192061	108192061	NC_000011.9:g.108192061C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6486C>A (p.Ser2162Arg)	472	ATM	Uncertain significance	138166710	RCV000795709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192061	108192061	11:g.108192061C>A	-
NM_000051.4(ATM):c.6487C>G (p.Leu2163Val)	472	ATM	Uncertain significance	1591107130	RCV000804281\|RCV002360968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192062	108192062	11:g.108192062C>G	-
NM_000051.4(ATM):c.6488T>G (p.Leu2163Arg)	472	ATM	Uncertain significance	779742477	RCV001325495\|RCV002357163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192063	108192063	108192063	-
NM_000051.4(ATM):c.6488T>A (p.Leu2163His)	472	ATM	Uncertain significance	-1	RCV002361984\|RCV003098262;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192063	108192063	108192063	-
NM_000051.4(ATM):c.6490G>T (p.Glu2164Ter)	472	ATM	Pathogenic/Likely pathogenic	1317619286	RCV000523585\|RCV001857980\|RCV003352903;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192065	108192065	11:g.108192065G>T	ClinGen:CA382554013	CN517202 not provided;
NM_000051.4(ATM):c.6490G>C (p.Glu2164Gln)	472	ATM	Uncertain significance	1317619286	RCV000542867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192065	108192065	NC_000011.9:g.108192065G>C	ClinGen:CA382554012	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6490G>A (p.Glu2164Lys)	472	ATM	Uncertain significance	1317619286	RCV000777563\|RCV001204503;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192065	108192065	NC_000011.9:g.108192065G>A	-
NM_000051.4(ATM):c.6491A>T (p.Glu2164Val)	472	ATM	Uncertain significance	1591107186	RCV000816796;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192066	108192066	11:g.108192066A>T	-
NM_000051.4(ATM):c.6491A>G (p.Glu2164Gly)	472	ATM	Uncertain significance	1591107186	RCV001062990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192066	108192066	11:g.108192066A>G	-
NM_000051.4(ATM):c.6491A>C (p.Glu2164Ala)	472	ATM	Uncertain significance	1591107186	RCV001317336\|RCV002366171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192066	108192066	108192066	-
NM_000051.4(ATM):c.6492G>T (p.Glu2164Asp)	472	ATM	Uncertain significance	2136239707	RCV001885021;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192067	108192067	108192067	-
NM_000051.4(ATM):c.6492G>C (p.Glu2164Asp)	472	ATM	Uncertain significance	-1	RCV002662802;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192067	108192067	NC_000011.9:g.108192067G>C	-
NM_000051.4(ATM):c.6493T>A (p.Ser2165Thr)	472	ATM	Uncertain significance	1555117132	RCV000559826\|RCV000562152\|RCV000763708\|RCV003323590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Me	11	108192068	108192068	NC_000011.9:g.108192068T>A	ClinGen:CA382554028	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6493T>C (p.Ser2165Pro)	472	ATM	Uncertain significance	-1	RCV002356251\|RCV003098265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192068	108192068	108192068	-
NM_000051.4(ATM):c.6494C>T (p.Ser2165Phe)	472	ATM	Uncertain significance	2085195776	RCV001317645;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192069	108192069	108192069	-
NM_000051.4(ATM):c.6498_6499del (p.Tyr2167fs)	472	ATM	Pathogenic/Likely pathogenic	1060501707	RCV000463968\|RCV003321607;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108192070	108192071	NC_000011.9:g.108192071GT[1]	ClinGen:CA16613410	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6497T>C (p.Val2166Ala)	472	ATM	Uncertain significance	1232551114	RCV000579690\|RCV000794566\|RCV001030600\|RCV001290628\|RCV003409852\|RCV003392421\|RCV003465289;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346	11	108192072	108192072	NC_000011.9:g.108192072T>C	ClinGen:CA382554050	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6498G>A (p.Val2166=)	472	ATM	Likely benign	746514937	RCV000570935\|RCV001399396;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192073	108192073		ClinGen:CA6265958
NM_000051.4(ATM):c.6500A>G (p.Tyr2167Cys)	472	ATM	Uncertain significance	768155385	RCV000481784\|RCV000531622\|RCV000574359\|RCV001257479\|RCV002469169;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374	11	108192075	108192075	11:g.108192075A>G	ClinGen:CA6265959	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6500A>T (p.Tyr2167Phe)	472	ATM	Uncertain significance	768155385	RCV001915623;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192075	108192075	108192075	-
NM_000051.4(ATM):c.6501T>C (p.Tyr2167=)	472	ATM	Likely benign	1204851027	RCV001496853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192076	108192076		-
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu)	472	ATM	Conflicting interpretations of pathogenicity	200431631	RCV000206774\|RCV000216900\|RCV000588892\|RCV000763709\|RCV001268980;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108192078	108192078	11:g.108192078C>T	ClinGen:CA350774	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6503C>G (p.Ser2168Trp)	472	ATM	Uncertain significance	200431631	RCV001368009;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192078	108192078	108192078	-
NM_000051.4(ATM):c.6504G>A (p.Ser2168=)	472	ATM	Likely benign	786203522	RCV000166863\|RCV000227716\|RCV000608060;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108192079	108192079		ClinGen:CA196901	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6505C>G (p.Leu2169Val)	472	ATM	Uncertain significance	1064794157	RCV000484262\|RCV001025352\|RCV001851175;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192080	108192080	11:g.108192080C>G	ClinGen:CA16619215	CN517202 not provided;
NM_000051.4(ATM):c.6505_6519del (p.Leu2169_Leu2173del)	472	ATM	Uncertain significance	1555117162	RCV000627900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192080	108192094	11:g.108192080_108192094del	ClinGen:CA658797749	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6506T>C (p.Leu2169Pro)	472	ATM	Uncertain significance	748054311	RCV000812309;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192081	108192081	11:g.108192081T>C	-
NM_000051.4(ATM):c.6506T>A (p.Leu2169His)	472	ATM	Uncertain significance	-1	RCV003000033;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192081	108192081	NC_000011.9:g.108192081T>A	-
NM_000051.4(ATM):c.6507C>G (p.Leu2169=)	472	ATM	Likely benign	863224295	RCV000198781\|RCV000221105\|RCV000422820;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108192082	108192082		ClinGen:CA338180	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6509A>G (p.Tyr2170Cys)	472	ATM	Uncertain significance	1555117171	RCV000628133\|RCV001821764;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108192084	108192084	11:g.108192084A>G	ClinGen:CA382554111	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6514del (p.Thr2172fs)	472	ATM	Pathogenic	-1	RCV002853337;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192089	108192089	NC_000011.9:g.108192089del	-
NM_000051.4(ATM):c.6516A>C (p.Thr2172=)	472	ATM	Likely benign	576254168	RCV000221256\|RCV000607416\|RCV001411237;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192091	108192091		ClinGen:CA10579224	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6516A>G (p.Thr2172=)	472	ATM	Likely benign	576254168	RCV001025361\|RCV001438883;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192091	108192091		-
NM_000051.4(ATM):c.6517C>G (p.Leu2173Val)	472	ATM	Uncertain significance	1565511354	RCV000690689;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192092	108192092	11:g.108192092C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6517C>T (p.Leu2173Phe)	472	ATM	Uncertain significance	1565511354	RCV001035349\|RCV002363549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192092	108192092	11:g.108192092C>T	-
NM_000051.4(ATM):c.6518T>A (p.Leu2173His)	472	ATM	Uncertain significance	1173542225	RCV001069400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192093	108192093	11:g.108192093T>A	-
NM_000051.4(ATM):c.6518T>G (p.Leu2173Arg)	472	ATM	Uncertain significance	-1	RCV002364200\|RCV003098276;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192093	108192093	108192093	-
NM_000051.4(ATM):c.6519T>G (p.Leu2173=)	472	ATM	Likely benign	2136240892	RCV001436081;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192094	108192094		-
NM_000051.4(ATM):c.6521G>A (p.Ser2174Asn)	472	ATM	Uncertain significance	1470293148	RCV000688585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192096	108192096	11:g.108192096G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6526_6532del (p.Leu2176fs)	472	ATM	Pathogenic	2085199149	RCV001071723\|RCV002365787;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192096	108192102	11:g.108192096_108192102del	-
NM_000051.4(ATM):c.6522C>A (p.Ser2174Arg)	472	ATM	Uncertain significance	772850740	RCV000166000\|RCV000544101\|RCV002478513;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192097	108192097	11:g.108192097C>A	ClinGen:CA194737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6522C>T (p.Ser2174=)	472	ATM	Conflicting interpretations of pathogenicity	772850740	RCV000697990\|RCV001025369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192097	108192097		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6523dup (p.Arg2175fs)	472	ATM	Pathogenic	1591107480	RCV000796585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192097	108192098	11:g.108192097_108192098insA	-
NM_000051.4(ATM):c.6523A>C (p.Arg2175=)	472	ATM	Likely benign	2085199556	RCV001439452\|RCV002368356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192098	108192098		-
NM_000051.4(ATM):c.6523del (p.Arg2175fs)	472	ATM	Pathogenic	-1	RCV002819830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192098	108192098	NC_000011.9:g.108192098del	-
NM_000051.4(ATM):c.6524G>T (p.Arg2175Met)	472	ATM	Uncertain significance	1555117188	RCV000563718\|RCV002298664;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192099	108192099	NC_000011.9:g.108192099G>T	ClinGen:CA382554193	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6524G>A (p.Arg2175Lys)	472	ATM	Uncertain significance	1555117188	RCV001025370\|RCV001862322;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192099	108192099	11:g.108192099G>A	-
NM_000051.4(ATM):c.6524G>C (p.Arg2175Thr)	472	ATM	Uncertain significance	1555117188	RCV001985596;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192099	108192099	108192099	-
NM_000051.4(ATM):c.6525G>A (p.Arg2175=)	472	ATM	Likely benign	1555117190	RCV000557360;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192100	108192100		ClinGen:CA476676203	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6526T>C (p.Leu2176=)	472	ATM	Likely benign	143715818	RCV000565440\|RCV001175529\|RCV001489332;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192101	108192101		ClinGen:CA6265963
NM_000051.4(ATM):c.6528G>A (p.Leu2176=)	472	ATM	Likely benign	2136241451	RCV001423983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192103	108192103		-
NM_000051.4(ATM):c.6529C>T (p.Gln2177Ter)	472	ATM	Pathogenic/Likely pathogenic	766706861	RCV001868392\|RCV003470879\|RCV001702268;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108192104	108192104	108192104	-
NM_000051.4(ATM):c.6529C>G (p.Gln2177Glu)	472	ATM	Uncertain significance	-1	RCV002510001\|RCV002574723;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192104	108192104	NC_000011.9:g.108192104C>G	-
NM_000051.4(ATM):c.6530A>C (p.Gln2177Pro)	472	ATM	Uncertain significance	1060501573	RCV000473719;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192105	108192105	NC_000011.9:g.108192105A>C	ClinGen:CA16613415	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6530A>G (p.Gln2177Arg)	472	ATM	Uncertain significance	1060501573	RCV001216757\|RCV002365976;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192105	108192105	11:g.108192105A>G	-
NM_000051.4(ATM):c.6531G>A (p.Gln2177=)	472	ATM	Likely benign	2136241619	RCV001493305;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192106	108192106		-
NM_000051.4(ATM):c.6534C>T (p.Ala2178=)	472	ATM	Likely benign	1555117210	RCV000565249\|RCV001506815;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192109	108192109		ClinGen:CA476676214	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6535A>G (p.Ile2179Val)	472	ATM	Uncertain significance	2136241829	RCV001943149\|RCV002361224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192110	108192110	108192110	-
NM_000051.4(ATM):c.6537dup (p.Gly2180fs)	472	ATM	Pathogenic	-1	RCV002885381;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192110	108192111	NC_000011.9:g.108192112dup	-
NM_000051.4(ATM):c.6536T>C (p.Ile2179Thr)	472	ATM	Conflicting interpretations of pathogenicity	878853532	RCV000229363\|RCV000255846\|RCV000572519\|RCV000779807\|RCV003463631;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192111	108192111	NC_000011.9:g.108192111T>C	ClinGen:CA10582840	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6537T>G (p.Ile2179Met)	472	ATM	Conflicting interpretations of pathogenicity	146243469	RCV000165775\|RCV000205267\|RCV000590569\|RCV000764937\|RCV002225485\|RCV003387784\|RCV003474869;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108192112	108192112	11:g.108192112T>G	ClinGen:CA194187	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6540A>G (p.Gly2180=)	472	ATM	Likely benign	767516615	RCV000233271\|RCV000579903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192115	108192115		ClinGen:CA6265966	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6541G>A (p.Glu2181Lys)	472	ATM	Uncertain significance	2136242185	RCV001823617\|RCV002361081;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192116	108192116	108192116	-
NM_000051.4(ATM):c.6542A>G (p.Glu2181Gly)	472	ATM	Uncertain significance	2085203449	RCV001218127\|RCV002365986;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192117	108192117	11:g.108192117A>G	-
NM_000051.4(ATM):c.6543G>T (p.Glu2181Asp)	472	ATM	Conflicting interpretations of pathogenicity	138828590	RCV000115230\|RCV000196735\|RCV000212044\|RCV000587205\|RCV002225324\|RCV003407492;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|	11	108192118	108192118	NC_000011.9:g.108192118G>T	ClinGen:CA286937	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6544C>T (p.Leu2182=)	472	ATM	Likely benign	-1	RCV002675849;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192119	108192119		-
NM_000051.4(ATM):c.6546G>A (p.Leu2182=)	472	ATM	Likely benign	756551824	RCV001434755;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192121	108192121		-
NM_000051.4(ATM):c.6547G>A (p.Glu2183Lys)	472	ATM	Uncertain significance	2085204408	RCV001341767;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192122	108192122	108192122	-
NM_000051.4(ATM):c.6547G>T (p.Glu2183Ter)	472	ATM	Pathogenic	2085204408	RCV001389024\|RCV002368229;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192122	108192122	108192122	-
NM_000051.4(ATM):c.6550A>G (p.Ser2184Gly)	472	ATM	Uncertain significance	764713766	RCV000771922\|RCV001856004;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192125	108192125	NC_000011.9:g.108192125A>G	-
NM_000051.4(ATM):c.6551G>C (p.Ser2184Thr)	472	ATM	Uncertain significance	374551964	RCV000159748\|RCV000227041\|RCV000216780\|RCV003462075;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192126	108192126	NC_000011.9:g.108192126G>C	ClinGen:CA298314	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6552C>T (p.Ser2184=)	472	ATM	Likely benign	565124064	RCV000166399\|RCV000550722\|RCV000616185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108192127	108192127		ClinGen:CA195768	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6555dup (p.Gly2186fs)	472	ATM	Pathogenic	1565511585	RCV000691297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192128	108192129	11:g.108192128_108192129insT	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6553A>T (p.Ile2185Phe)	472	ATM	Uncertain significance	2085205198	RCV001055803\|RCV002365710;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192128	108192128	11:g.108192128A>T	-
NM_000051.4(ATM):c.6554T>C (p.Ile2185Thr)	472	ATM	Uncertain significance	779611511	RCV000236528\|RCV000571895\|RCV000686103\|RCV002465602\|RCV002494680\|RCV003469189;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108192129	108192129	NC_000011.9:g.108192129T>C	ClinGen:CA6265969	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6554T>G (p.Ile2185Ser)	472	ATM	Uncertain significance	779611511	RCV000820921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192129	108192129	11:g.108192129T>G	-
NM_000051.4(ATM):c.6555T>C (p.Ile2185=)	472	ATM	Likely benign	1591107794	RCV001403796;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192130	108192130		-
NM_000051.4(ATM):c.6558G>A (p.Gly2186=)	472	ATM	Likely benign	1555117263	RCV000571247\|RCV001500203\|RCV002271529;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108192133	108192133		ClinGen:CA476676236
NM_000051.4(ATM):c.6558G>T (p.Gly2186=)	472	ATM	Uncertain significance	1555117263	RCV002258704\|RCV003095852;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192133	108192133		-
NM_000051.4(ATM):c.6560delinsGG (p.Glu2187fs)	472	ATM	Pathogenic	-1	RCV003135041;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192135	108192135	NC_000011.9:g.108192135delinsGG	-
NM_000051.4(ATM):c.6562C>A (p.Leu2188Ile)	472	ATM	Uncertain significance	1060501682	RCV000469200\|RCV000564538\|RCV001724016;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108192137	108192137	NC_000011.9:g.108192137C>A	ClinGen:CA16613188	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6562C>T (p.Leu2188Phe)	472	ATM	Uncertain significance	1060501682	RCV001295932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192137	108192137	108192137	-
NM_000051.4(ATM):c.6562del (p.Leu2188fs)	472	ATM	Pathogenic	-1	RCV002846691;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192137	108192137	NC_000011.9:g.108192137del	-
NM_000051.4(ATM):c.6565_6566del (p.Phe2189fs)	472	ATM	Pathogenic	2136243287	RCV001389196;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192138	108192139	108192137	-
NM_000051.4(ATM):c.6566del (p.Phe2189fs)	472	ATM	Pathogenic	2136243287	RCV001928176;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192138	108192138	108192137	-
NM_000051.4(ATM):c.6571A>G (p.Arg2191Gly)	472	ATM	Uncertain significance	587781861	RCV000130175\|RCV000212045\|RCV000628002;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192146	108192146	11:g.108192146A>G	ClinGen:CA294164	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6572G>C (p.Arg2191Thr)	472	ATM	Uncertain significance	1196814221	RCV000558573;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192147	108192147	11:g.108192147G>C	ClinGen:CA382554451	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6572G>A (p.Arg2191Lys)	472	ATM	Conflicting interpretations of pathogenicity	1196814221	RCV001972233\|RCV002361266;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192147	108192147	108192147	-
NM_000051.4(ATM):c.6572+1G>A	472	ATM	Pathogenic/Likely pathogenic	587779856	RCV000115231\|RCV000212046\|RCV000410003;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192148	108192148	NC_000011.9:g.108192148G>A	ClinGen:CA286940	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6572+1G>T	472	ATM	Likely pathogenic	587779856	RCV001234037\|RCV003449729;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192148	108192148	11:g.108192148G>T	-
NM_000051.4(ATM):c.6572+3A>G	472	ATM	Conflicting interpretations of pathogenicity	778574672	RCV001202681\|RCV002365910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108192150	108192150	11:g.108192150A>G	-
NM_000051.4(ATM):c.6572+4T>C	472	ATM	Conflicting interpretations of pathogenicity	587780636	RCV000122876\|RCV000123756\|RCV000417368\|RCV000679137;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108192151	108192151	NC_000011.9:g.108192151T>C	ClinGen:CA289576	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6572+7A>C	472	ATM	Likely benign	2136243916	RCV001425806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192154	108192154	108192154	-
NM_000051.4(ATM):c.6572+7A>G	472	ATM	Likely benign	-1	RCV003029675;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192154	108192154	NC_000011.9:g.108192154A>G	-
NM_000051.4(ATM):c.6572+9T>A	472	ATM	Likely benign	2136243962	RCV002211452;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192156	108192156	108192156	-
NM_000051.4(ATM):c.6572+10T>G	472	ATM	Likely benign	2136243985	RCV001474948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192157	108192157	108192157	-
NM_000051.4(ATM):c.6572+11C>T	472	ATM	Conflicting interpretations of pathogenicity	368049107	RCV000584458\|RCV001662627\|RCV002061675;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192158	108192158	NC_000011.9:g.108192158C>T	ClinGen:CA6265970	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6572+12G>T	472	ATM	Benign	3218677	RCV000128880\|RCV000287038\|RCV000679136\|RCV001610437\|RCV001357523\|RCV002225413\|RCV003149878\|RCV003315859;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108192159	108192159	11:g.108192159G>T	ClinGen:CA163512	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6572+12G>A	472	ATM	Benign/Likely benign	3218677	RCV000583348\|RCV001653931\|RCV002061677\|RCV003316758;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108192159	108192159	NC_000011.9:g.108192159G>A	ClinGen:CA6265971	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6572+12del	472	ATM	Likely benign	1555117290	RCV000582323\|RCV002061676;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192159	108192159	NC_000011.9:g.108192159del	ClinGen:CA658683726	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6572+13T>C	472	ATM	Likely benign	1441875536	RCV002182347;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192160	108192160	108192160	-
NM_000051.4(ATM):c.6572+17A>C	472	ATM	Likely benign	1555117296	RCV000584429\|RCV002061678;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192164	108192164	NC_000011.9:g.108192164A>C	ClinGen:CA658683728	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6572+18C>T	472	ATM	Likely benign	2085210231	RCV002159096;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192165	108192165	108192165	-
NM_000051.4(ATM):c.6572+20_6572+21del	472	ATM	Likely benign	1064793041	RCV000481793\|RCV002056731;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108192166	108192167	NC_000011.9:g.108192167_108192168del	ClinGen:CA16619216	CN169374 not specified;
NM_000051.4(ATM):c.6573-42_6573-41del	472	ATM	Benign	1347499229	RCV000988706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108195995	108195996	11:g.108195995_108195996del	-
NM_000051.4(ATM):c.6573-41del	472	ATM	Benign/Likely benign	1271045298	RCV000830720\|RCV000988707;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108195996	108195996	11:g.108195996_108195996del	-
NM_000051.4(ATM):c.6573-41_6573-40del	472	ATM	Benign	758339884	RCV000988708;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108195996	108195997	11:g.108195996_108195997del	-
NM_000051.4(ATM):c.6573-37_6573-36insTTTTTT	472	ATM	Benign	1591127671	RCV000988709;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108195997	108195998	11:g.108195997_108195998insTTTTTT	-
NM_000051.4(ATM):c.6573-36C>T	472	ATM	Benign	759869598	RCV000988710\|RCV001638029;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196001	108196001	11:g.108196001C>T	-
NM_000051.4(ATM):c.6573-34C>T	472	ATM	Benign	767824695	RCV000988711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196003	108196003	11:g.108196003C>T	-
NM_000051.4(ATM):c.6573-31G>T	472	ATM	Benign	1274213878	RCV000988713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196006	108196006	11:g.108196006G>T	-
NM_000051.4(ATM):c.6573-31_6573-30del	472	ATM	Benign	1216821271	RCV000988712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196006	108196007	11:g.108196006_108196007del	-
NM_000051.4(ATM):c.6573-30C>T	472	ATM	Benign	775413448	RCV000988714;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196007	108196007	11:g.108196007C>T	-
NM_000051.4(ATM):c.6573-26C>A	472	ATM	Benign	1591127920	RCV000988715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196011	108196011	11:g.108196011C>A	-
NM_000051.4(ATM):c.6573-23G>T	472	ATM	Benign	1591127987	RCV000988716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196014	108196014	11:g.108196014G>T	-
NM_000051.4(ATM):c.6573-17dup	472	ATM	Benign/Likely benign	1565517900	RCV000771635\|RCV001672953\|RCV002067230;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196019	108196020	NC_000011.9:g.108196020dup	-
NM_000051.4(ATM):c.6573-16_6573-15del	472	ATM	Likely benign	1064794351	RCV000482394\|RCV001178853\|RCV002063714;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196020	108196021	11:g.108196020_108196021del	ClinGen:CA16619217	CN169374 not specified;
NM_000051.4(ATM):c.6573-16A>G	472	ATM	Benign/Likely benign	764506673	RCV000245922\|RCV000679138\|RCV000582287\|RCV001432679;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196021	108196021	NC_000011.9:g.108196021A>G	ClinGen:CA6265982	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6573-13T>A	472	ATM	Likely benign	-1	RCV003121648;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196024	108196024	NC_000011.9:g.108196024T>A	-
NM_000051.4(ATM):c.6573-12C>T	472	ATM	Likely benign	1057521666	RCV000420855\|RCV000771642\|RCV002062629;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196025	108196025	11:g.108196025C>T	ClinGen:CA16606202	CN169374 not specified;
NM_000051.4(ATM):c.6573-12C>A	472	ATM	Likely pathogenic	1057521666	RCV002021047\|RCV002361402\|RCV003443000\|RCV003471276;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196025	108196025	108196025	-
NM_000051.4(ATM):c.6573-12C>G	472	ATM	Likely benign	1057521666	RCV002219853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196025	108196025	108196025	-
NM_000051.4(ATM):c.6573-11G>A	472	ATM	Conflicting interpretations of pathogenicity	375599653	RCV000479451\|RCV000771923\|RCV002063710;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196026	108196026	11:g.108196026G>A	ClinGen:CA6265985	CN517202 not provided;
NC_000011.10:g.(?_108325300)_(108347375_?)del	472	ATM	Pathogenic	-1	RCV001032114;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196027	108218102	-1	-
NC_000011.10:g.(?_108325300)_(108365508_?)del	472	ATM	Pathogenic	-1	RCV001032055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196027	108236235	-1	-
NC_000011.9:g.(?_108196027)_(108199975_?)del	472	ATM	Likely pathogenic	-1	RCV001377248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196027	108199975	-1	-
NC_000011.9:g.(?_108196027)_(108196281_?)del	472	ATM	Pathogenic	-1	RCV001381458;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196027	108196281	-1	-
NM_000051.4(ATM):c.6573-9G>A	472	ATM	Pathogenic/Likely pathogenic	1591128179	RCV000795488\|RCV003307434;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196028	108196028	11:g.108196028G>A	-
NM_000051.4(ATM):c.6573-8G>A	472	ATM	Likely benign	1555118989	RCV000551349;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196029	108196029	11:g.108196029G>A	ClinGen:CA658656251	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6573-8G>T	472	ATM	Likely benign	1555118989	RCV000982347;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196029	108196029	11:g.108196029G>T	-
NM_000051.4(ATM):c.6573-5T>C	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002894444\|RCV003358005;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196032	108196032	NC_000011.9:g.108196032T>C	-
NM_000051.4(ATM):c.6573-2A>G	472	ATM	Likely pathogenic	751168951	RCV000534309\|RCV001025423\|RCV003470678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196035	108196035	11:g.108196035A>G	ClinGen:CA6265987	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6573-2A>C	472	ATM	Likely pathogenic	751168951	RCV002010775;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196035	108196035	108196035	-
NM_000051.4(ATM):c.6573-1G>C	472	ATM	Likely pathogenic	1591128291	RCV001025422\|RCV001066862;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196036	108196036	11:g.108196036G>C	-
NC_000011.10:g.(?_108325310)_(108369099_?)del	472	ATM	Pathogenic	-1	RCV000464717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196037	108239826		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6573A>G (p.Arg2191=)	472	ATM	Conflicting interpretations of pathogenicity	1565518004	RCV000706839\|RCV000773888;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196037	108196037		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6575C>G (p.Ser2192Ter)	472	ATM	Pathogenic	2136306738	RCV001972612\|RCV002246620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196039	108196039	108196039	-
NM_000051.4(ATM):c.6576A>G (p.Ser2192=)	472	ATM	Likely benign	2136306809	RCV002162475;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196040	108196040		-
NM_000051.4(ATM):c.6577G>A (p.Val2193Ile)	472	ATM	Uncertain significance	754555043	RCV000215163\|RCV000235792\|RCV000461049;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196041	108196041	11:g.108196041G>A	ClinGen:CA6265988	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6581C>T (p.Thr2194Ile)	472	ATM	Uncertain significance	1476384636	RCV000573897\|RCV001239506;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196045	108196045	NC_000011.9:g.108196045C>T	ClinGen:CA382554658	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6583C>T (p.His2195Tyr)	472	ATM	Uncertain significance	780946471	RCV000197918\|RCV000564354\|RCV002464143;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108196047	108196047	11:g.108196047C>T	ClinGen:CA337541	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6585_6586del (p.His2195fs)	472	ATM	Pathogenic/Likely pathogenic	1555119004	RCV000628155\|RCV002257862\|RCV003465375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196048	108196049	11:g.108196048_108196049del	ClinGen:CA658797752	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6584A>G (p.His2195Arg)	472	ATM	Uncertain significance	1565518051	RCV000775009\|RCV001873154;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196048	108196048	NC_000011.9:g.108196048A>G	-
NM_000051.4(ATM):c.6585T>C (p.His2195=)	472	ATM	Likely benign	786203401	RCV000166689\|RCV000439877\|RCV000935949;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196049	108196049		ClinGen:CA196491	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6586A>T (p.Arg2196Ter)	472	ATM	Pathogenic/Likely pathogenic	1555119011	RCV000571629\|RCV000576576;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196050	108196050	NC_000011.9:g.108196050A>T	ClinGen:CA382554668	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6586A>C (p.Arg2196=)	472	ATM	Likely benign	1555119011	RCV001447076\|RCV002372626;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196050	108196050		-
NM_000051.4(ATM):c.6588A>G (p.Arg2196=)	472	ATM	Likely benign	2136307484	RCV002258709\|RCV003101432;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196052	108196052		-
NM_000051.4(ATM):c.6590A>C (p.Gln2197Pro)	472	ATM	Uncertain significance	1412850323	RCV001191701\|RCV001372706;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196054	108196054	11:g.108196054A>C	-
NM_000051.4(ATM):c.6591A>G (p.Gln2197=)	472	ATM	Likely benign	863224296	RCV000200319\|RCV000220181\|RCV001569788;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108196055	108196055		ClinGen:CA339236	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6596_6597del (p.Leu2198_Ser2199insTer)	472	ATM	Likely pathogenic	747057367	RCV000671246\|RCV003163064;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108196056	108196057	11:g.108196056_108196057del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6596C>A (p.Ser2199Tyr)	472	ATM	Uncertain significance	1591128462	RCV000808083\|RCV001025438\|RCV003442094;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108196060	108196060	11:g.108196060C>A	-
NM_000051.4(ATM):c.6598G>T (p.Glu2200Ter)	472	ATM	Pathogenic	2085552425	RCV001053254;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196062	108196062	11:g.108196062G>T	-
NM_000051.4(ATM):c.6598G>A (p.Glu2200Lys)	472	ATM	Uncertain significance	2085552425	RCV001339687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196062	108196062	108196062	-
NM_000051.4(ATM):c.6600A>G (p.Glu2200=)	472	ATM	Uncertain significance	2136308135	RCV001959741;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196064	108196064		-
NM_000051.4(ATM):c.6601G>C (p.Val2201Leu)	472	ATM	Uncertain significance	-1	RCV003017862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196065	108196065	NC_000011.9:g.108196065G>C	-
NM_000051.4(ATM):c.6602T>C (p.Val2201Ala)	472	ATM	Uncertain significance	876658435	RCV000220779\|RCV001036636;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196066	108196066	11:g.108196066T>C	ClinGen:CA10579225	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6602_6610del (p.Val2201_Lys2204delinsGlu)	472	ATM	Uncertain significance	-1	RCV003051934;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196066	108196074	NC_000011.9:g.108196066_108196074del	-
NM_000051.4(ATM):c.6603A>G (p.Val2201=)	472	ATM	Likely benign	863224297	RCV000196955\|RCV000219706\|RCV000437838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108196067	108196067		ClinGen:CA336839	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6604T>G (p.Tyr2202Asp)	472	ATM	Uncertain significance	730881311	RCV000159641\|RCV000199822\|RCV000212047\|RCV000764938\|RCV000766519\|RCV001798542\|RCV003462068;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108196068	108196068	NC_000011.9:g.108196068T>G	ClinGen:CA298028	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6604T>C (p.Tyr2202His)	472	ATM	Uncertain significance	730881311	RCV001367214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196068	108196068	108196068	-
NM_000051.4(ATM):c.6606T>C (p.Tyr2202=)	472	ATM	Likely benign	1367617850	RCV000944971\|RCV001186179;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196070	108196070		-
NM_000051.4(ATM):c.6606_6609del (p.Val2201_Tyr2202insTer)	472	ATM	Pathogenic	2136308396	RCV001904596;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196070	108196073	108196069	-
NM_000051.4(ATM):c.6608T>C (p.Ile2203Thr)	472	ATM	Uncertain significance	2085553784	RCV001325917\|RCV001355084;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108196072	108196072	108196072	-
NM_000051.4(ATM):c.6610A>C (p.Lys2204Gln)	472	ATM	Uncertain significance	2085553991	RCV001216050\|RCV002365973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196074	108196074	11:g.108196074A>C	-
NM_000051.4(ATM):c.6612G>A (p.Lys2204=)	472	ATM	Likely benign	876660650	RCV000213738\|RCV001461072;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196076	108196076		ClinGen:CA10579226	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6613T>C (p.Trp2205Arg)	472	ATM	Uncertain significance	755656958	RCV000218991\|RCV000704891;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196077	108196077	11:g.108196077T>C	ClinGen:CA10579227	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6615G>A (p.Trp2205Ter)	472	ATM	Pathogenic	1555119041	RCV000583749\|RCV000762826\|RCV001853900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196079	108196079	11:g.108196079G>A	ClinGen:CA382554733	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6615G>T (p.Trp2205Cys)	472	ATM	Uncertain significance	1555119041	RCV000628095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196079	108196079	11:g.108196079G>T	ClinGen:CA382554735	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6615G>C (p.Trp2205Cys)	472	ATM	Uncertain significance	1555119041	RCV001984041;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196079	108196079	108196079	-
NM_000051.4(ATM):c.6616C>G (p.Gln2206Glu)	472	ATM	Uncertain significance	2085554912	RCV001314648\|RCV002375399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196080	108196080	108196080	-
NM_000051.4(ATM):c.6616C>T (p.Gln2206Ter)	472	ATM	Pathogenic	2085554912	RCV001381515;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196080	108196080	108196080	-
NM_000051.4(ATM):c.6618G>C (p.Gln2206His)	472	ATM	Uncertain significance	2085555121	RCV001061730\|RCV002374955;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196082	108196082	11:g.108196082G>C	-
NM_000051.4(ATM):c.6620A>G (p.Lys2207Arg)	472	ATM	Uncertain significance	1565518213	RCV000699927;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196084	108196084	11:g.108196084A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6622C>T (p.His2208Tyr)	472	ATM	Uncertain significance	1060501641	RCV000476844\|RCV001025465\|RCV002465657\|RCV003463884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196086	108196086	NC_000011.9:g.108196086C>T	ClinGen:CA16613108	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6624C>A (p.His2208Gln)	472	ATM	Uncertain significance	2136309199	RCV001359816\|RCV003375258;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196088	108196088	108196088	-
NM_000051.4(ATM):c.6628del (p.Gln2210fs)	472	ATM	Pathogenic/Likely pathogenic	886039616	RCV000255726\|RCV002374435\|RCV002519006;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196090	108196090	11:g.108196090_108196090del	ClinGen:CA10588505	CN517202 not provided;
NM_000051.4(ATM):c.6627C>G (p.Ser2209=)	472	ATM	Likely benign	2085556098	RCV001183167\|RCV002559822;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196091	108196091		-
NM_000051.4(ATM):c.6629A>C (p.Gln2210Pro)	472	ATM	Uncertain significance	1252127806	RCV000690424\|RCV002360737\|RCV003231580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108196093	108196093	11:g.108196093A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6629del (p.Gln2210fs)	472	ATM	Pathogenic	2085556498	RCV001216889\|RCV001814284\|RCV002365979;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0011442,MedGen:C4023354\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196093	108196093	11:g.108196093_108196093del	-
NM_000051.4(ATM):c.6630G>A (p.Gln2210=)	472	ATM	Likely benign	777515589	RCV000563545\|RCV001452126\|RCV001557425;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196094	108196094		ClinGen:CA6265991	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6630G>C (p.Gln2210His)	472	ATM	Uncertain significance	-1	RCV002676992;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196094	108196094	NC_000011.9:g.108196094G>C	-
NM_000051.4(ATM):c.6631C>T (p.Leu2211Phe)	472	ATM	Uncertain significance	1555119051	RCV000540093\|RCV002275056;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196095	108196095	NC_000011.9:g.108196095C>T	ClinGen:CA382554775	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6632T>G (p.Leu2211Arg)	472	ATM	Uncertain significance	2136309652	RCV001909571\|RCV002361218;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196096	108196096	108196096	-
NM_000051.4(ATM):c.6632T>C (p.Leu2211Pro)	472	ATM	Uncertain significance	-1	RCV003049789;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196096	108196096	NC_000011.9:g.108196096T>C	-
NM_000051.4(ATM):c.6635_6636del (p.Leu2212fs)	472	ATM	Pathogenic/Likely pathogenic	768909644	RCV001383479\|RCV003469698;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196097	108196098	108196096	-
NM_000051.4(ATM):c.6636C>T (p.Leu2212=)	472	ATM	Likely benign	876659563	RCV000219673\|RCV000420776\|RCV000873136\|RCV001798717;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108196100	108196100		ClinGen:CA10579228	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6636C>A (p.Leu2212=)	472	ATM	Likely benign	876659563	RCV001432022\|RCV002368341;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196100	108196100		-
NM_000051.4(ATM):c.6640G>T (p.Asp2214Tyr)	472	ATM	Uncertain significance	1433554922	RCV002006685;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196104	108196104	108196104	-
NM_000051.4(ATM):c.6642delinsGA (p.Asp2214fs)	472	ATM	Pathogenic	2085558165	RCV001241610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196106	108196106	11:g.108196106_108196107insA	-
NM_000051.4(ATM):c.6643A>G (p.Ser2215Gly)	472	ATM	Uncertain significance	730881312	RCV000159642\|RCV001857581\|RCV002362846;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196107	108196107	NC_000011.9:g.108196107A>G	ClinGen:CA298031	CN169374 not specified;
NM_000051.4(ATM):c.6643A>C (p.Ser2215Arg)	472	ATM	Uncertain significance	730881312	RCV001349455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196107	108196107	108196107	-
NM_000051.4(ATM):c.6643_6644del (p.Asp2214_Ser2215insTer)	472	ATM	Pathogenic	-1	RCV002853472;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196107	108196108	NC_000011.9:g.108196107_108196108del	-
NM_000051.4(ATM):c.6644G>C (p.Ser2215Thr)	472	ATM	Uncertain significance	1591128755	RCV000819006;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196108	108196108	11:g.108196108G>C	-
NM_000051.4(ATM):c.6645T>G (p.Ser2215Arg)	472	ATM	Uncertain significance	1064794485	RCV000481703\|RCV000696466\|RCV001025494\|RCV003419803;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	11	108196109	108196109	11:g.108196109T>G	ClinGen:CA16619218	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6646G>A (p.Asp2216Asn)	472	ATM	Uncertain significance	1482691031	RCV001367311\|RCV003462933;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196110	108196110	108196110	-
NM_000051.4(ATM):c.6650_6657del (p.Phe2217fs)	472	ATM	Pathogenic	864622326	RCV000206192\|RCV000218379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196112	108196119	11:g.108196112_108196119del	ClinGen:CA350257	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6650_6664del (p.Phe2217_Pro2222delinsSer)	472	ATM	Uncertain significance	1555119092	RCV000674064;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196114	108196128	11:g.108196114_108196128del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6652A>C (p.Ser2218Arg)	472	ATM	Uncertain significance	749261367	RCV000575940\|RCV000815731\|RCV001420803\|RCV001594398\|RCV003470804;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196116	108196116	NC_000011.9:g.108196116A>C	ClinGen:CA6265993	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6652A>G (p.Ser2218Gly)	472	ATM	Uncertain significance	749261367	RCV002049659;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196116	108196116	108196116	-
NM_000051.4(ATM):c.6657del (p.Gln2220fs)	472	ATM	Pathogenic	876658603	RCV000218764\|RCV000627945;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196118	108196118	11:g.108196118_108196118del	ClinGen:CA10579230	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6655T>G (p.Phe2219Val)	472	ATM	Uncertain significance	2136310909	RCV001903509\|RCV002361209;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196119	108196119	108196119	-
NM_000051.4(ATM):c.6655T>C (p.Phe2219Leu)	472	ATM	Uncertain significance	-1	RCV003054473;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196119	108196119	NC_000011.9:g.108196119T>C	-
NM_000051.4(ATM):c.6657T>G (p.Phe2219Leu)	472	ATM	Conflicting interpretations of pathogenicity	2085560685	RCV001218468\|RCV003294054;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196121	108196121	11:g.108196121T>G	-
NM_000051.4(ATM):c.6658C>T (p.Gln2220Ter)	472	ATM	Pathogenic	1060501536	RCV000470482\|RCV000497262\|RCV001090518\|RCV003155941;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196122	108196122	NC_000011.9:g.108196122C>T	ClinGen:CA16613190	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6661_6673del (p.Glu2221fs)	472	ATM	Pathogenic	-1	RCV003029353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196124	108196136	NC_000011.9:g.108196125_108196137del	-
NM_000051.4(ATM):c.6661G>A (p.Glu2221Lys)	472	ATM	Uncertain significance	1591128898	RCV000817048\|RCV001025507;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196125	108196125	11:g.108196125G>A	-
NM_000051.4(ATM):c.6661G>T (p.Glu2221Ter)	472	ATM	Pathogenic	1591128898	RCV001382160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196125	108196125	108196125	-
NM_000051.4(ATM):c.6661G>C (p.Glu2221Gln)	472	ATM	Uncertain significance	1591128898	RCV001998543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196125	108196125	108196125	-
NM_000051.4(ATM):c.6663G>A (p.Glu2221=)	472	ATM	Likely benign	-1	RCV002876512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196127	108196127		-
NM_000051.4(ATM):c.6665C>A (p.Pro2222His)	472	ATM	Uncertain significance	997021874	RCV000572457\|RCV002530246;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196129	108196129	NC_000011.9:g.108196129C>A	ClinGen:CA382554855	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6665_6679delinsG (p.Pro2222fs)	472	ATM	Pathogenic	2085562005	RCV001246989;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196129	108196143	11:g.108196130_108196143del	-
NM_000051.4(ATM):c.6665C>G (p.Pro2222Arg)	472	ATM	Uncertain significance	997021874	RCV001936334\|RCV003167312;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196129	108196129	108196129	-
NM_000051.4(ATM):c.6666T>C (p.Pro2222=)	472	ATM	Likely benign	1591128954	RCV001025509\|RCV002552401;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196130	108196130		-
NM_000051.4(ATM):c.6667del (p.Ile2223fs)	472	ATM	Pathogenic	878853533	RCV000230650;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196131	108196131	NC_000011.9:g.108196131del	ClinGen:CA10582841	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6667A>G (p.Ile2223Val)	472	ATM	Uncertain significance	1028293945	RCV000692172\|RCV000773334\|RCV002060873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108196131	108196131	11:g.108196131A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6667A>C (p.Ile2223Leu)	472	ATM	Uncertain significance	1028293945	RCV001296900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196131	108196131	108196131	-
NM_000051.4(ATM):c.6670A>G (p.Met2224Val)	472	ATM	Uncertain significance	545873723	RCV000214638\|RCV001056970\|RCV002247655;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108196134	108196134	11:g.108196134A>G	ClinGen:CA6265994	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6670A>C (p.Met2224Leu)	472	ATM	Uncertain significance	545873723	RCV000696256;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196134	108196134	11:g.108196134A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6671T>C (p.Met2224Thr)	472	ATM	Uncertain significance	730881313	RCV000159643\|RCV000693596\|RCV001025519;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196135	108196135	NC_000011.9:g.108196135T>C	ClinGen:CA298034	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6672_6680delinsCTC (p.Met2224_Arg2227delinsIleSer)	472	ATM	Likely pathogenic	1591129041	RCV001025520\|RCV001243705\|RCV003315445;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196136	108196144	11:g.108196137_108196144del	-
NM_000051.4(ATM):c.6672G>A (p.Met2224Ile)	472	ATM	Uncertain significance	2136311974	RCV002010861\|RCV002361380;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196136	108196136	108196136	-
NM_000051.4(ATM):c.6673G>A (p.Ala2225Thr)	472	ATM	Uncertain significance	1555119121	RCV000628054\|RCV001766332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196137	108196137	11:g.108196137G>A	ClinGen:CA382554870	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6673G>T (p.Ala2225Ser)	472	ATM	Uncertain significance	-1	RCV003087395;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196137	108196137	NC_000011.9:g.108196137G>T	-
NM_000051.4(ATM):c.6676C>T (p.Leu2226=)	472	ATM	Likely benign	745709682	RCV001181706\|RCV002067924;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196140	108196140		-
NM_000051.4(ATM):c.6677T>C (p.Leu2226Pro)	472	ATM	Uncertain significance	1565518489	RCV000709190;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196141	108196141	11:g.108196141T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6678A>G (p.Leu2226=)	472	ATM	Likely benign	772173373	RCV000164775\|RCV000421004\|RCV000469400;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196142	108196142		ClinGen:CA191742	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys)	472	ATM	Pathogenic	564652222	RCV000159749\|RCV000196419\|RCV000212048\|RCV000762827\|RCV001255479\|RCV002288675;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108196143	108196143	NC_000011.9:g.108196143C>T	ClinGen:CA298317,UniProtKB:Q13315#VAR_010846	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6680G>A (p.Arg2227His)	472	ATM	Uncertain significance	879254132	RCV000235577\|RCV000527070\|RCV000563259\|RCV003469186;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196144	108196144	NC_000011.9:g.108196144G>A	ClinGen:CA10584359	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6681C>T (p.Arg2227=)	472	ATM	Benign/Likely benign	775850434	RCV000221538\|RCV000462110\|RCV000988717;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196145	108196145		ClinGen:CA6265996	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6683_6684del (p.Thr2228fs)	472	ATM	Pathogenic	1565518539	RCV000692934\|RCV002360750;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196145	108196146	11:g.108196145_108196146del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6681C>A (p.Arg2227=)	472	ATM	Likely benign	775850434	RCV000780890\|RCV002535686\|RCV003166070;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196145	108196145		-
NM_000051.4(ATM):c.6683C>A (p.Thr2228Lys)	472	ATM	Uncertain significance	2085565666	RCV002038067;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196147	108196147	108196147	-
NM_000051.4(ATM):c.6683C>T (p.Thr2228Ile)	472	ATM	Uncertain significance	-1	RCV002942071\|RCV003358024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196147	108196147	NC_000011.9:g.108196147C>T	-
NM_000051.4(ATM):c.6686T>A (p.Val2229Asp)	472	ATM	Uncertain significance	1555119144	RCV000579777\|RCV000813695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196150	108196150	NC_000011.9:g.108196150T>A	ClinGen:CA382554895	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6686T>G (p.Val2229Gly)	472	ATM	Uncertain significance	1555119144	RCV000689797\|RCV003465571;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196150	108196150	NC_000011.9:g.108196150T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6687C>A (p.Val2229=)	472	ATM	Likely benign	1442555144	RCV000867892\|RCV001025533;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196151	108196151		-
NM_000051.4(ATM):c.6689T>C (p.Ile2230Thr)	472	ATM	Uncertain significance	587781562	RCV000129583\|RCV000988718\|RCV002298478;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108196153	108196153	11:g.108196153T>C	ClinGen:CA164714	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6693G>A (p.Leu2231=)	472	ATM	Likely benign	2136313009	RCV002153029;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196157	108196157		-
NM_000051.4(ATM):c.6697A>C (p.Ile2233Leu)	472	ATM	Uncertain significance	1385625521	RCV000813121\|RCV002363110\|RCV003467466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196161	108196161	11:g.108196161A>C	-
NM_000051.4(ATM):c.6698T>C (p.Ile2233Thr)	472	ATM	Uncertain significance	2136313236	RCV001970735;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196162	108196162	108196162	-
NM_000051.4(ATM):c.6699C>T (p.Ile2233=)	472	ATM	Likely benign	1555119149	RCV000565261\|RCV001469993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196163	108196163		ClinGen:CA476745440	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6700del (p.Ile2233_Leu2234insTer)	472	ATM	Pathogenic	2085567158	RCV001070260;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196163	108196163	11:g.108196163_108196163del	-
NM_000051.4(ATM):c.6699C>G (p.Ile2233Met)	472	ATM	Uncertain significance	1555119149	RCV001754775\|RCV002540356;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196163	108196163	108196163	-
NM_000051.4(ATM):c.6700C>T (p.Leu2234=)	472	ATM	Likely benign	760602228	RCV000166509\|RCV000204108\|RCV000423866\|RCV001721083;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108196164	108196164		ClinGen:CA196058	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6701T>A (p.Leu2234Gln)	472	ATM	Uncertain significance	1158183992	RCV000552301\|RCV001025556\|RCV001569916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108196165	108196165	11:g.108196165T>A	ClinGen:CA382554940	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6701T>C (p.Leu2234Pro)	472	ATM	Uncertain significance	1158183992	RCV001371850\|RCV002368202;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196165	108196165	108196165	-
NM_000051.4(ATM):c.6702G>A (p.Leu2234=)	472	ATM	Likely benign	-1	RCV003013883;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196166	108196166		-
NM_000051.4(ATM):c.6703A>G (p.Met2235Val)	472	ATM	Uncertain significance	768791795	RCV000771924\|RCV001766600\|RCV001856005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196167	108196167	NC_000011.9:g.108196167A>G	-
NM_000051.4(ATM):c.6706del (p.Glu2236fs)	472	ATM	Pathogenic	2136313589	RCV001384840;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196169	108196169	108196168	-
NM_000051.4(ATM):c.6705G>T (p.Met2235Ile)	472	ATM	Uncertain significance	-1	RCV002842228;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196169	108196169	NC_000011.9:g.108196169G>T	-
NM_000051.4(ATM):c.6710_6719del (p.Lys2237fs)	472	ATM	Pathogenic	-1	RCV002867687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196173	108196182	NC_000011.9:g.108196174_108196183del	-
NM_000051.4(ATM):c.6710A>C (p.Lys2237Thr)	472	ATM	Uncertain significance	35118109	RCV000628194\|RCV001025565;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196174	108196174	NC_000011.9:g.108196174A>C	ClinGen:CA228411993	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6710_6711del (p.Lys2237fs)	472	ATM	Pathogenic/Likely pathogenic	1591129337	RCV001025564\|RCV002271612;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196174	108196175	11:g.108196174_108196175del	-
NM_000051.4(ATM):c.6710A>G (p.Lys2237Arg)	472	ATM	Uncertain significance	35118109	RCV001320529\|RCV003375218;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196174	108196174	108196174	-
NM_000051.4(ATM):c.6712G>A (p.Glu2238Lys)	472	ATM	Uncertain significance	2136313885	RCV001907658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196176	108196176	108196176	-
NM_000051.4(ATM):c.6713A>T (p.Glu2238Val)	472	ATM	Uncertain significance	1591129372	RCV001025566\|RCV001302896;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196177	108196177	11:g.108196177A>T	-
NM_000051.4(ATM):c.6713A>C (p.Glu2238Ala)	472	ATM	Uncertain significance	1591129372	RCV001878689\|RCV002361138;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196177	108196177	108196177	-
NM_000051.4(ATM):c.6715A>C (p.Met2239Leu)	472	ATM	Uncertain significance	2085569409	RCV001339617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196179	108196179	108196179	-
NM_000051.4(ATM):c.6716T>C (p.Met2239Thr)	472	ATM	Uncertain significance	-1	RCV002304827;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196180	108196180	108196180	-
NM_000051.4(ATM):c.6717G>A (p.Met2239Ile)	472	ATM	Uncertain significance	1555119181	RCV001879373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196181	108196181	108196181	-
NM_000051.4(ATM):c.6718G>C (p.Asp2240His)	472	ATM	Uncertain significance	587782478	RCV000131592\|RCV000692438\|RCV001193604;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108196182	108196182	11:g.108196182G>C	ClinGen:CA168417	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6719A>G (p.Asp2240Gly)	472	ATM	Uncertain significance	-1	RCV002825625;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196183	108196183	NC_000011.9:g.108196183A>G	-
NM_000051.4(ATM):c.6722A>G (p.Asn2241Ser)	472	ATM	Uncertain significance	786202583	RCV000165465\|RCV000693053\|RCV001778760;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108196186	108196186	11:g.108196186A>G	ClinGen:CA193470	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6722A>C (p.Asn2241Thr)	472	ATM	Uncertain significance	786202583	RCV000702007\|RCV002369932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196186	108196186	NC_000011.9:g.108196186A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6723C>T (p.Asn2241=)	472	ATM	Likely benign	750763671	RCV000771925\|RCV001448446;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196187	108196187		-
NM_000051.4(ATM):c.6728_6755del (p.Gln2243fs)	472	ATM	Pathogenic	2136314501	RCV001390895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196187	108196214	108196186	-
NM_000051.4(ATM):c.6724T>A (p.Ser2242Thr)	472	ATM	Uncertain significance	1309164461	RCV001923441\|RCV003365557;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196188	108196188	108196188	-
NM_000051.4(ATM):c.6726A>G (p.Ser2242=)	472	ATM	Likely benign	878853534	RCV001495675;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196190	108196190		ClinGen:CA10582842
NM_000051.4(ATM):c.6727C>T (p.Gln2243Ter)	472	ATM	Pathogenic	1565518711	RCV001214786;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196191	108196191	11:g.108196191C>T	-
NM_000051.4(ATM):c.6729_6730del (p.Glu2245fs)	472	ATM	Pathogenic	1060501543	RCV000468442;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196192	108196193	NC_000011.9:g.108196193_108196194del	ClinGen:CA16613193	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6728A>C (p.Gln2243Pro)	472	ATM	Uncertain significance	1565518723	RCV000774019\|RCV002534108;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196192	108196192	NC_000011.9:g.108196192A>C	-
NM_000051.4(ATM):c.6729A>G (p.Gln2243=)	472	ATM	Likely benign	763431129	RCV001025581\|RCV001396340;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196193	108196193		-
NM_000051.4(ATM):c.6731G>A (p.Arg2244Lys)	472	ATM	Uncertain significance	2136315016	RCV001365256;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196195	108196195	108196195	-
NM_000051.4(ATM):c.6731G>C (p.Arg2244Thr)	472	ATM	Uncertain significance	-1	RCV002377919\|RCV003098348;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196195	108196195	108196195	-
NM_000051.4(ATM):c.6733G>C (p.Glu2245Gln)	472	ATM	Uncertain significance	2085572299	RCV001218857\|RCV001524703;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196197	108196197	11:g.108196197G>C	-
NM_000051.4(ATM):c.6733G>A (p.Glu2245Lys)	472	ATM	Uncertain significance	2085572299	RCV002028189\|RCV002361347;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196197	108196197	108196197	-
NM_000051.4(ATM):c.6735dup (p.Cys2246fs)	472	ATM	Pathogenic	2136315218	RCV001921946\|RCV002361152;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196197	108196198	108196197	-
NM_000051.4(ATM):c.6735A>G (p.Glu2245=)	472	ATM	Likely benign	2136315259	RCV001427960;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196199	108196199		-
NM_000051.4(ATM):c.6737G>A (p.Cys2246Tyr)	472	ATM	Uncertain significance	2085573174	RCV001056785;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196201	108196201	11:g.108196201G>A	-
NM_000051.4(ATM):c.6738T>C (p.Cys2246=)	472	ATM	Likely benign	2136315409	RCV001490216;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196202	108196202		-
NM_000051.4(ATM):c.6739A>G (p.Ile2247Val)	472	ATM	Conflicting interpretations of pathogenicity	587781521	RCV000129510\|RCV000196259\|RCV002262749\|RCV003460894;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196203	108196203	11:g.108196203A>G	ClinGen:CA164564	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6739A>C (p.Ile2247Leu)	472	ATM	Uncertain significance	587781521	RCV000773054\|RCV001204842;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196203	108196203	NC_000011.9:g.108196203A>C	-
NM_000051.4(ATM):c.6741T>G (p.Ile2247Met)	472	ATM	Uncertain significance	876658607	RCV000215949\|RCV000477596\|RCV000764939\|RCV001545304\|RCV003114384\|RCV003469005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Me	11	108196205	108196205	11:g.108196205T>G	ClinGen:CA10579232	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6742A>G (p.Lys2248Glu)	472	ATM	Uncertain significance	1555119232	RCV000561016\|RCV000689678\|RCV003470806;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196206	108196206	NC_000011.9:g.108196206A>G	ClinGen:CA382555193	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6743A>C (p.Lys2248Thr)	472	ATM	Uncertain significance	1591129646	RCV000821753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196207	108196207	11:g.108196207A>C	-
NM_000051.4(ATM):c.6745G>T (p.Asp2249Tyr)	472	ATM	Uncertain significance	1555119235	RCV000582914\|RCV001853901;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196209	108196209	11:g.108196209G>T	ClinGen:CA382555216	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6745G>A (p.Asp2249Asn)	472	ATM	Uncertain significance	1555119235	RCV001216318;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196209	108196209	11:g.108196209G>A	-
NM_000051.4(ATM):c.6746A>T (p.Asp2249Val)	472	ATM	Uncertain significance	1277367898	RCV000822002;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196210	108196210	11:g.108196210A>T	-
NM_000051.4(ATM):c.6746A>G (p.Asp2249Gly)	472	ATM	Uncertain significance	1277367898	RCV001324505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196210	108196210	108196210	-
NM_000051.4(ATM):c.6752_6755dup (p.Lys2253fs)	472	ATM	Pathogenic	863224461	RCV000198667\|RCV003362723;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196214	108196215	NC_000011.9:g.108196216_108196219dup	ClinGen:CA338094	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6751C>G (p.Leu2251Val)	472	ATM	Uncertain significance	2085575228	RCV001299168\|RCV002375355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196215	108196215	108196215	-
NM_000051.4(ATM):c.6751del (p.Leu2251fs)	472	ATM	Likely pathogenic	-1	RCV003142744;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196215	108196215	NC_000011.9:g.108196215del	-
NM_000051.4(ATM):c.6753C>T (p.Leu2251=)	472	ATM	Likely benign	1057521515	RCV000443987\|RCV002525356;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196217	108196217		ClinGen:CA16605821	CN169374 not specified;
NM_000051.4(ATM):c.6754del (p.Thr2252fs)	472	ATM	Pathogenic	1064793042	RCV000485978\|RCV000816022;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196218	108196218	NC_000011.9:g.108196218del	ClinGen:CA16619221	CN517202 not provided;
NM_000051.4(ATM):c.6754A>C (p.Thr2252Pro)	472	ATM	Uncertain significance	1262434611	RCV001350575\|RCV002368149\|RCV003469585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196218	108196218	108196218	-
NM_000051.4(ATM):c.6755C>G (p.Thr2252Ser)	472	ATM	Uncertain significance	755531586	RCV000771926\|RCV001209503;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196219	108196219	NC_000011.9:g.108196219C>G	-
NM_000051.4(ATM):c.6756C>T (p.Thr2252=)	472	ATM	Likely benign	1008212556	RCV002219042\|RCV002361473;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196220	108196220		-
NM_000051.4(ATM):c.6757A>C (p.Lys2253Gln)	472	ATM	Uncertain significance	863224578	RCV000198750\|RCV001025616;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196221	108196221	11:g.108196221A>C	ClinGen:CA338160	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6757A>T (p.Lys2253Ter)	472	ATM	Pathogenic	863224578	RCV001065571\|RCV003311937;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196221	108196221	11:g.108196221A>T	-
NM_000051.4(ATM):c.6757A>G (p.Lys2253Glu)	472	ATM	Uncertain significance	863224578	RCV001889148\|RCV003166931\|RCV003229064\|RCV003464205;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196221	108196221	108196221	-
NM_000051.4(ATM):c.6758A>C (p.Lys2253Thr)	472	ATM	Uncertain significance	786203332	RCV000166597\|RCV000231110\|RCV001174902\|RCV003468788;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196222	108196222	11:g.108196222A>C	ClinGen:CA196266	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6759A>C (p.Lys2253Asn)	472	ATM	Uncertain significance	1060501602	RCV000474857\|RCV000583932\|RCV003323546;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108196223	108196223	NC_000011.9:g.108196223A>C	ClinGen:CA16613416	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6760C>T (p.His2254Tyr)	472	ATM	Uncertain significance	2136316772	RCV002047748\|RCV003150478;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108196224	108196224	108196224	-
NM_000051.4(ATM):c.6761A>C (p.His2254Pro)	472	ATM	Uncertain significance	1565518950	RCV000707159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196225	108196225	11:g.108196225A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6762C>T (p.His2254=)	472	ATM	Likely benign	563933875	RCV000710678\|RCV000771927\|RCV001089315;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196226	108196226		ClinGen:CA6266005	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6763C>T (p.Leu2255Phe)	472	ATM	Uncertain significance	2085578159	RCV001307391\|RCV002366153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196227	108196227	108196227	-
NM_000051.4(ATM):c.6765del (p.Leu2255_Val2256insTer)	472	ATM	Pathogenic	949695076	RCV001939351;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196228	108196228	108196227	-
NM_000051.4(ATM):c.6765T>C (p.Leu2255=)	472	ATM	Likely benign	587780637	RCV000122877\|RCV000218195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196229	108196229		ClinGen:CA332351	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6766G>A (p.Val2256Ile)	472	ATM	Uncertain significance	1565519006	RCV000703393\|RCV002360811;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196230	108196230	11:g.108196230G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6769G>T (p.Glu2257Ter)	472	ATM	Pathogenic	2136317336	RCV001972009;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196233	108196233	108196233	-
NM_000051.4(ATM):c.6771A>T (p.Glu2257Asp)	472	ATM	Uncertain significance	2085579349	RCV001233135;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196235	108196235	11:g.108196235A>T	-
NM_000051.4(ATM):c.6776_6777del (p.Ser2259fs)	472	ATM	Pathogenic	1131691156	RCV000493422\|RCV001037836;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196236	108196237	11:g.108196236_108196237del	ClinGen:CA645369501	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6773T>A (p.Leu2258His)	472	ATM	Uncertain significance	2136317561	RCV001373350;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196237	108196237	108196237	-
NM_000051.4(ATM):c.6774C>T (p.Leu2258=)	472	ATM	Likely benign	1057520450	RCV000422200\|RCV000564273\|RCV001429647\|RCV001703531;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196238	108196238		ClinGen:CA16606203	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6774C>G (p.Leu2258=)	472	ATM	Likely benign	-1	RCV002884995;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196238	108196238		-
NM_000051.4(ATM):c.6777T>C (p.Ser2259=)	472	ATM	Likely benign	1057522874	RCV000423142\|RCV001475245\|RCV002365540;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196241	108196241		ClinGen:CA16606846	CN169374 not specified;
NM_000051.4(ATM):c.6778A>G (p.Ile2260Val)	472	ATM	Conflicting interpretations of pathogenicity	1365474284	RCV000776930\|RCV001239637\|RCV001577680;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196242	108196242	NC_000011.9:g.108196242A>G	-
NM_000051.4(ATM):c.6780A>G (p.Ile2260Met)	472	ATM	Uncertain significance	1555119325	RCV000565692\|RCV001307734\|RCV001354238;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196244	108196244	NC_000011.9:g.108196244A>G	ClinGen:CA382555458	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6781C>G (p.Leu2261Val)	472	ATM	Uncertain significance	757243222	RCV001307307\|RCV003365318;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196245	108196245	108196245	-
NM_000051.4(ATM):c.6784G>C (p.Ala2262Pro)	472	ATM	Uncertain significance	587781674	RCV000129833\|RCV000460379\|RCV000779763;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108196248	108196248	11:g.108196248G>C	ClinGen:CA165168	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6785C>A (p.Ala2262Asp)	472	ATM	Uncertain significance	876660017	RCV000222077\|RCV001833225;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196249	108196249	11:g.108196249C>A	ClinGen:CA10579235	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6786_6791del (p.Arg2263_Thr2264del)	472	ATM	Uncertain significance	1565519112	RCV000685627\|RCV002360712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196249	108196254	11:g.108196249_108196254del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6791C>T (p.Thr2264Ile)	472	ATM	Uncertain significance	1468747245	RCV001996857;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196255	108196255	108196255	-
NM_000051.4(ATM):c.6791C>G (p.Thr2264Ser)	472	ATM	Uncertain significance	-1	RCV002971051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196255	108196255	NC_000011.9:g.108196255C>G	-
NM_000051.4(ATM):c.6792T>C (p.Thr2264=)	472	ATM	Likely benign	1555119347	RCV001492055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196256	108196256		-
NM_000051.4(ATM):c.6794T>G (p.Phe2265Cys)	472	ATM	Uncertain significance	1179172483	RCV000628175\|RCV000777410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196258	108196258	NC_000011.9:g.108196258T>G	ClinGen:CA382555541	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6795C>T (p.Phe2265=)	472	ATM	Conflicting interpretations of pathogenicity	3218699	RCV000122878\|RCV000123710\|RCV000212049\|RCV000679140\|RCV001356930\|RCV003149833;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562	11	108196259	108196259		ClinGen:CA289516
NM_000051.4(ATM):c.6795C>G (p.Phe2265Leu)	472	ATM	Uncertain significance	3218699	RCV000222187\|RCV000706369\|RCV002298533\|RCV002494590;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108196259	108196259	11:g.108196259C>G	ClinGen:CA6266008	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6795C>A (p.Phe2265Leu)	472	ATM	Uncertain significance	3218699	RCV000532594\|RCV001025652;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196259	108196259	11:g.108196259C>A	ClinGen:CA382555544	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6797_6798delinsC (p.Lys2266fs)	472	ATM	Pathogenic	1555119364	RCV000573379\|RCV001247774;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196261	108196262	NC_000011.9:g.108196261_108196262delinsC	ClinGen:CA658656270	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6797A>G (p.Lys2266Arg)	472	ATM	Uncertain significance	1591130168	RCV000813801\|RCV002363113;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196261	108196261	11:g.108196261A>G	-
NM_000051.4(ATM):c.6800A>G (p.Asn2267Ser)	472	ATM	Uncertain significance	972348231	RCV001230784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196264	108196264	11:g.108196264A>G	-
NM_000051.4(ATM):c.6801C>T (p.Asn2267=)	472	ATM	Likely benign	1591130210	RCV001440300\|RCV003160768;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196265	108196265		-
NM_000051.4(ATM):c.6802A>G (p.Thr2268Ala)	472	ATM	Uncertain significance	1391132040	RCV001047816\|RCV002365688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196266	108196266	11:g.108196266A>G	-
NM_000051.4(ATM):c.6802A>T (p.Thr2268Ser)	472	ATM	Uncertain significance	1391132040	RCV001367382;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196266	108196266	108196266	-
NM_000051.4(ATM):c.6805C>G (p.Gln2269Glu)	472	ATM	Uncertain significance	2085584895	RCV001181684\|RCV001876035\|RCV003469299;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196269	108196269	11:g.108196269C>G	-
NM_000051.4(ATM):c.6805C>A (p.Gln2269Lys)	472	ATM	Uncertain significance	2085584895	RCV001326150\|RCV002366205;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196269	108196269	108196269	-
NM_000051.4(ATM):c.6805C>T (p.Gln2269Ter)	472	ATM	Pathogenic	2085584895	RCV001390349;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196269	108196269	108196269	-
NM_000051.4(ATM):c.6807G>A (p.Gln2269=)	472	ATM	Conflicting interpretations of pathogenicity	587780638	RCV000122879\|RCV000213885\|RCV001288455\|RCV001798398;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN221562	11	108196271	108196271		ClinGen:CA332354	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6807+1_6807+7del	472	ATM	Likely pathogenic	-1	RCV002369513\|RCV003098389;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196272	108196278	108196271	-
NM_000051.4(ATM):c.6807+2T>C	472	ATM	Likely pathogenic	2136319469	RCV001379619;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196273	108196273	108196273	-
NM_000051.4(ATM):c.6807+4A>G	472	ATM	Uncertain significance	1555119382	RCV000628035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196275	108196275	NC_000011.9:g.108196275A>G	ClinGen:CA658797755	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6807+8del	472	ATM	Conflicting interpretations of pathogenicity	1555119385	RCV000540462\|RCV000994714\|RCV001186969\|RCV002282200;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108196279	108196279	11:g.108196279_108196279del	ClinGen:CA658656271	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6807+8C>A	472	ATM	Likely benign	1565519254	RCV000774391\|RCV001410213;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196279	108196279	NC_000011.9:g.108196279C>A	-
NM_000051.4(ATM):c.6807+8C>T	472	ATM	Likely benign	1565519254	RCV002174922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196279	108196279	108196279	-
NM_000051.4(ATM):c.6807+10A>G	472	ATM	Likely benign	924117395	RCV000476319\|RCV001179334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196281	108196281	NC_000011.9:g.108196281A>G	ClinGen:CA16613109	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6807+11T>C	472	ATM	Likely benign	-1	RCV002908161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196282	108196282	NC_000011.9:g.108196282T>C	-
NM_000051.4(ATM):c.6807+15A>G	472	ATM	Uncertain significance	-1	RCV002914666;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196286	108196286	NC_000011.9:g.108196286A>G	-
NM_000051.4(ATM):c.6807+20_6807+21del	472	ATM	Likely benign	1555119392	RCV000584245\|RCV000611570\|RCV002061679;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196290	108196291	11:g.108196290_108196291del	ClinGen:CA658683734	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6807+20A>G	472	ATM	Likely benign	369001797	RCV000616844\|RCV000771928\|RCV001422857;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196291	108196291	11:g.108196291A>G	ClinGen:CA6266009	CN169374 not specified;
NM_000051.4(ATM):c.6808-242_7516-275del	472	ATM	Pathogenic	-1	RCV000780891;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196543	108201896	NC_000011.9:g.108196543_108201896del	-
NM_000051.4(ATM):c.6808-72ATT[4]	472	ATM	Benign	3212322	RCV000780892\|RCV001675963\|RCV001554132\|RCV002225727;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108196713	108196715	NC_000011.9:g.108196713ATT[4]	-
NM_000051.4(ATM):c.6808-20A>G	472	ATM	Conflicting interpretations of pathogenicity	1240565463	RCV000613130\|RCV001860282;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196765	108196765	11:g.108196765A>G	ClinGen:CA658797756	CN169374 not specified;
NM_000051.4(ATM):c.6808-18_6808-17del	472	ATM	Likely benign	2136330085	RCV002157121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196765	108196766	108196764	-
NM_000051.4(ATM):c.6808-18_6808-10del	472	ATM	Likely benign	-1	RCV003009573;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196766	108196774	NC_000011.9:g.108196767_108196775del	-
NM_000051.4(ATM):c.6808-18A>T	472	ATM	Likely benign	1166582977	RCV000581653\|RCV002061680;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196767	108196767	NC_000011.9:g.108196767A>T	ClinGen:CA601726068	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6808-14C>T	472	ATM	Likely benign	932081789	RCV002158034;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196771	108196771	108196771	-
NM_000051.4(ATM):c.6808-14C>G	472	ATM	Likely benign	-1	RCV002711185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196771	108196771	NC_000011.9:g.108196771C>G	-
NM_000051.4(ATM):c.6808-13A>G	472	ATM	Likely benign	1410228904	RCV002148155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196772	108196772	108196772	-
NM_000051.4(ATM):c.6808-6_6808-2del	472	ATM	Likely benign	2085643760	RCV001461525;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196774	108196778	108196773	-
NM_000051.4(ATM):c.6808-10T>C	472	ATM	Likely benign	2136330431	RCV002155513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196775	108196775	108196775	-
NM_000051.4(ATM):c.6808-8C>G	472	ATM	Likely benign	-1	RCV003029261;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196777	108196777	NC_000011.9:g.108196777C>G	-
NM_000051.4(ATM):c.6808-7A>G	472	ATM	Conflicting interpretations of pathogenicity	2085644108	RCV001189059\|RCV001502921;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196778	108196778	11:g.108196778A>G	-
NM_000051.4(ATM):c.6808-3C>G	472	ATM	Uncertain significance	2085644636	RCV001057026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196782	108196782	11:g.108196782C>G	-
NM_000051.4(ATM):c.6808-2A>G	472	ATM	Likely pathogenic	-1	RCV002816251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196783	108196783	NC_000011.9:g.108196783A>G	-
NM_000051.4(ATM):c.6808C>T (p.Leu2270Phe)	472	ATM	Uncertain significance	2085645038	RCV002004708;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196785	108196785	108196785	-
NM_000051.4(ATM):c.6810C>T (p.Leu2270=)	472	ATM	Likely benign	1060504305	RCV000584657\|RCV001428201;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196787	108196787		ClinGen:CA16613194
NM_000051.4(ATM):c.6811C>T (p.Pro2271Ser)	472	ATM	Uncertain significance	1591133084	RCV001025679\|RCV001201702;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196788	108196788	11:g.108196788C>T	-
NM_000051.4(ATM):c.6813T>C (p.Pro2271=)	472	ATM	Likely benign	1555119714	RCV000628231\|RCV002360488;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196790	108196790		ClinGen:CA476676274	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6814G>A (p.Glu2272Lys)	472	ATM	Uncertain significance	886039471	RCV000553239\|RCV000565662\|RCV000586472\|RCV001355550\|RCV003401216\|RCV003469196;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196791	108196791	11:g.108196791G>A	ClinGen:CA10588506	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6814delinsCA (p.Glu2272fs)	472	ATM	Pathogenic/Likely pathogenic	1565520117	RCV000702385\|RCV002360807\|RCV003460977\|RCV003411634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|	11	108196791	108196791	11:g.108196791_108196792insA	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6815A>C (p.Glu2272Ala)	472	ATM	Uncertain significance	1565520129	RCV000805752;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196792	108196792	11:g.108196792A>C	-
NM_000051.4(ATM):c.6816A>G (p.Glu2272=)	472	ATM	Likely benign	1555119726	RCV000529241\|RCV000564949\|RCV001423755;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196793	108196793		ClinGen:CA476676276	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6817A>G (p.Arg2273Gly)	472	ATM	Uncertain significance	-1	RCV002612052;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196794	108196794	NC_000011.9:g.108196794A>G	-
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr)	472	ATM	Conflicting interpretations of pathogenicity	567060474	RCV000122880\|RCV000159644\|RCV000588200\|RCV001250436\|RCV001268972\|RCV001824286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374\|Human Phenotype Ontology:HP:000	11	108196797	108196797	NC_000011.9:g.108196797G>A	ClinGen:CA298037,UniProtKB:Q13315#VAR_010848	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6820G>T (p.Ala2274Ser)	472	ATM	Uncertain significance	567060474	RCV000213649\|RCV001047502;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196797	108196797	11:g.108196797G>T	ClinGen:CA10579236	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6821C>T (p.Ala2274Val)	472	ATM	Uncertain significance	2085647482	RCV001228872;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196798	108196798	11:g.108196798C>T	-
NM_000051.4(ATM):c.6823A>C (p.Ile2275Leu)	472	ATM	Uncertain significance	587779857	RCV000115232\|RCV000464353;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196800	108196800	NC_000011.9:g.108196800A>C	ClinGen:CA286941	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6823A>G (p.Ile2275Val)	472	ATM	Uncertain significance	587779857	RCV000219191\|RCV000456777\|RCV000589270\|RCV002484994\|RCV003226221\|RCV003467220;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108196800	108196800	NC_000011.9:g.108196800A>G	ClinGen:CA298040	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6824T>C (p.Ile2275Thr)	472	ATM	Uncertain significance	1283858462	RCV000777620\|RCV001036032\|RCV003465703;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196801	108196801	NC_000011.9:g.108196801T>C	-
NM_000051.4(ATM):c.6825A>G (p.Ile2275Met)	472	ATM	Uncertain significance	1591133274	RCV000988719;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196802	108196802	11:g.108196802A>G	-
NM_000051.4(ATM):c.6827T>G (p.Phe2276Cys)	472	ATM	Uncertain significance	753389616	RCV000581015\|RCV001036993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196804	108196804	NC_000011.9:g.108196804T>G	ClinGen:CA6266021	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6828T>A (p.Phe2276Leu)	472	ATM	Uncertain significance	1225138469	RCV001025693\|RCV001229838;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196805	108196805	11:g.108196805T>A	-
NM_000051.4(ATM):c.6829C>G (p.Gln2277Glu)	472	ATM	Uncertain significance	1252906835	RCV000670745\|RCV000773912\|RCV002249396;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108196806	108196806	11:g.108196806C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6829del (p.Gln2277fs)	472	ATM	Pathogenic	2136332132	RCV001388821\|RCV002368228\|RCV003469746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196806	108196806	108196805	-
NM_000051.4(ATM):c.6831A>T (p.Gln2277His)	472	ATM	Uncertain significance	1339794219	RCV000583052\|RCV001853902;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196808	108196808	NC_000011.9:g.108196808A>T	ClinGen:CA382556559	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6831A>G (p.Gln2277=)	472	ATM	Likely benign	1339794219	RCV000582067\|RCV000628213;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196808	108196808		ClinGen:CA476676285	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6831A>C (p.Gln2277His)	472	ATM	Uncertain significance	1339794219	RCV001025707\|RCV001832361;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196808	108196808	11:g.108196808A>C	-
NM_000051.4(ATM):c.6832A>C (p.Ile2278Leu)	472	ATM	Uncertain significance	2085649125	RCV001903517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196809	108196809	108196809	-
NM_000051.4(ATM):c.6835A>G (p.Lys2279Glu)	472	ATM	Uncertain significance	756898113	RCV000474503\|RCV000585909\|RCV001025711\|RCV001175340\|RCV003476058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196812	108196812	NC_000011.9:g.108196812A>G	ClinGen:CA6266022	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs)	472	ATM	Likely pathogenic	2136332542	RCV001532945;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196813	108196814	108196813	-
NM_000051.4(ATM):c.6838C>T (p.Gln2280Ter)	472	ATM	Pathogenic	1565520246	RCV000776664\|RCV001202079;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196815	108196815	NC_000011.9:g.108196815C>T	-
NM_000051.4(ATM):c.6839del (p.Gln2280fs)	472	ATM	Pathogenic	1407907917	RCV000547117\|RCV002367751;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196816	108196816	NC_000011.9:g.108196816del	ClinGen:CA658656273	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6839A>G (p.Gln2280Arg)	472	ATM	Uncertain significance	1555119779	RCV000627972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196816	108196816	NC_000011.9:g.108196816A>G	ClinGen:CA382556626	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6840G>A (p.Gln2280=)	472	ATM	Likely benign	2136332740	RCV001401602;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196817	108196817		-
NM_000051.4(ATM):c.6841T>C (p.Tyr2281His)	472	ATM	Uncertain significance	1291249685	RCV000584516\|RCV001210197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196818	108196818	NC_000011.9:g.108196818T>C	ClinGen:CA382556640	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6842A>G (p.Tyr2281Cys)	472	ATM	Uncertain significance	2136332870	RCV001889253;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196819	108196819	108196819	-
NM_000051.4(ATM):c.6843C>G (p.Tyr2281Ter)	472	ATM	Pathogenic	1555119797	RCV000628154\|RCV002360487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196820	108196820	11:g.108196820C>G	ClinGen:CA382556650	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6843del (p.Gln2280_Tyr2281insTer)	472	ATM	Pathogenic	1565520291	RCV000689889;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196820	108196820	11:g.108196820_108196820del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6844A>G (p.Asn2282Asp)	472	ATM	Uncertain significance	951881516	RCV000579862\|RCV000627871\|RCV002529085;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MeSH:D030342,MedGen:C0950123	11	108196821	108196821	11:g.108196821A>G	ClinGen:CA228412542	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6845A>G (p.Asn2282Ser)	472	ATM	Uncertain significance	863224579	RCV000200616\|RCV000567702\|RCV001582694\|RCV003468901;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196822	108196822	11:g.108196822A>G	ClinGen:CA339436	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6846T>C (p.Asn2282=)	472	ATM	Likely benign	541718119	RCV000165397\|RCV000870313\|RCV002265644;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108196823	108196823		ClinGen:CA193281	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6847T>G (p.Ser2283Ala)	472	ATM	Uncertain significance	-1	RCV002301385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196824	108196824	108196824	-
NM_000051.4(ATM):c.6848C>T (p.Ser2283Leu)	472	ATM	Uncertain significance	876660730	RCV000220834\|RCV000559536\|RCV001589160;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196825	108196825	11:g.108196825C>T	ClinGen:CA10579237	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6850del (p.Val2284fs)	472	ATM	Pathogenic/Likely pathogenic	876659569	RCV000213820\|RCV000628177;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196827	108196827	11:g.108196827_108196827del	ClinGen:CA10579238	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6850G>T (p.Val2284Phe)	472	ATM	Uncertain significance	2085651553	RCV001215287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196827	108196827	11:g.108196827G>T	-
NM_000051.4(ATM):c.6851T>C (p.Val2284Ala)	472	ATM	Uncertain significance	2136333421	RCV002019839;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196828	108196828	108196828	-
NM_000051.4(ATM):c.6857G>A (p.Cys2286Tyr)	472	ATM	Uncertain significance	786203052	RCV000166188\|RCV001234206;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196834	108196834	11:g.108196834G>A	ClinGen:CA195204	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6857G>T (p.Cys2286Phe)	472	ATM	Uncertain significance	786203052	RCV001302134;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196834	108196834	108196834	-
NM_000051.4(ATM):c.6859G>A (p.Gly2287Arg)	472	ATM	Uncertain significance	1181779478	RCV000627849\|RCV001025737\|RCV001288456;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108196836	108196836	11:g.108196836G>A	ClinGen:CA382556715	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala)	472	ATM	Conflicting interpretations of pathogenicity	1800061	RCV000115233\|RCV000168356\|RCV000588207\|RCV000757936\|RCV001798322\|RCV002281932;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN221562\|MedGen:CN169374	11	108196837	108196837	NC_000011.9:g.108196837G>C	ClinGen:CA286944,UniProtKB:Q13315#VAR_010849	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6860G>A (p.Gly2287Glu)	472	ATM	Uncertain significance	1800061	RCV000164364\|RCV000234176\|RCV000485783\|RCV001201232\|RCV001355759\|RCV003467292;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108196837	108196837	11:g.108196837G>A	ClinGen:CA190777	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6861A>C (p.Gly2287=)	472	ATM	Likely benign	2136333918	RCV002146297\|RCV002258390;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196838	108196838		-
NM_000051.4(ATM):c.6866_6867del (p.Val2288_Ser2289insTer)	472	ATM	Pathogenic/Likely pathogenic	886039701	RCV000255471\|RCV002518768;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196840	108196841	11:g.108196840_108196841del	ClinGen:CA10588507	CN517202 not provided;
NM_000051.4(ATM):c.6863T>A (p.Val2288Asp)	472	ATM	Uncertain significance	1591133559	RCV000793530;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196840	108196840	11:g.108196840T>A	-
NM_000051.4(ATM):c.6863del (p.Val2288fs)	472	ATM	Pathogenic	2085652979	RCV001224278;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196840	108196840	11:g.108196840_108196840del	-
NM_000051.4(ATM):c.6864C>G (p.Val2288=)	472	ATM	Likely benign	2136334108	RCV001506403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196841	108196841		-
NM_000051.4(ATM):c.6864C>T (p.Val2288=)	472	ATM	Likely benign	2136334108	RCV002158657\|RCV003382860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196841	108196841		-
NM_000051.4(ATM):c.6865T>C (p.Ser2289Pro)	472	ATM	Uncertain significance	2085653356	RCV001051753\|RCV002365696;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196842	108196842	11:g.108196842T>C	-
NM_000051.4(ATM):c.6867dup (p.Glu2290Ter)	472	ATM	Pathogenic	1555119834	RCV000531328\|RCV000561418\|RCV001270135\|RCV001821466\|RCV003470679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0001251,Human Phenotype Ontology:HP:0001253,Human Phenotype Ontology:HP:0002513,Human Phenotype Ont	11	108196843	108196844	NC_000011.9:g.108196844dup	ClinGen:CA658656276	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6868G>A (p.Glu2290Lys)	472	ATM	Uncertain significance	1479339581	RCV000561444\|RCV000628006;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196845	108196845	NC_000011.9:g.108196845G>A	ClinGen:CA382556759	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6868G>C (p.Glu2290Gln)	472	ATM	Uncertain significance	1479339581	RCV000572551\|RCV001337338\|RCV003114680;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108196845	108196845	NC_000011.9:g.108196845G>C	ClinGen:CA382556762	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6869A>C (p.Glu2290Ala)	472	ATM	Uncertain significance	1555119842	RCV000569743\|RCV001240932\|RCV003459275;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196846	108196846	NC_000011.9:g.108196846A>C	ClinGen:CA382556767	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6870G>A (p.Glu2290=)	472	ATM	Likely benign	1555119845	RCV000628212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196847	108196847		ClinGen:CA476676319	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6871T>C (p.Trp2291Arg)	472	ATM	Uncertain significance	746815819	RCV000583404\|RCV001219527;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196848	108196848	NC_000011.9:g.108196848T>C	ClinGen:CA6266024	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6871T>G (p.Trp2291Gly)	472	ATM	Uncertain significance	-1	RCV002297245;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196848	108196848	108196848	-
NM_000051.4(ATM):c.6872G>A (p.Trp2291Ter)	472	ATM	Pathogenic/Likely pathogenic	2136334561	RCV001825154\|RCV003316851;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196849	108196849	108196849	-
NM_000051.4(ATM):c.6873G>C (p.Trp2291Cys)	472	ATM	Uncertain significance	2136334606	RCV001525192\|RCV002568808;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196850	108196850	108196850	-
NM_000051.4(ATM):c.6877C>A (p.Leu2293Met)	472	ATM	Uncertain significance	-1	RCV002994623;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196854	108196854	NC_000011.9:g.108196854C>A	-
NM_000051.4(ATM):c.6878T>C (p.Leu2293Pro)	472	ATM	Uncertain significance	1450429233	RCV001300409\|RCV002366133;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196855	108196855	108196855	-
NM_000051.4(ATM):c.6883G>A (p.Glu2295Lys)	472	ATM	Uncertain significance	-1	RCV002746310;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196860	108196860	NC_000011.9:g.108196860G>A	-
NM_000051.4(ATM):c.6885A>G (p.Glu2295=)	472	ATM	Likely benign	748221367	RCV000605479\|RCV000978957\|RCV001190942;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196862	108196862		ClinGen:CA6266027	CN169374 not specified;
NM_000051.4(ATM):c.6885A>C (p.Glu2295Asp)	472	ATM	Uncertain significance	-1	RCV002968138;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196862	108196862	NC_000011.9:g.108196862A>C	-
NM_000051.4(ATM):c.6886G>A (p.Ala2296Thr)	472	ATM	Uncertain significance	2085656079	RCV001208303\|RCV002375150;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196863	108196863	11:g.108196863G>A	-
NM_000051.4(ATM):c.6888A>T (p.Ala2296=)	472	ATM	Benign/Likely benign	200735689	RCV000163097\|RCV000199159\|RCV000589924\|RCV001354548\|RCV001711326\|RCV001798567;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MedGen:CN221562	11	108196865	108196865		ClinGen:CA187435	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6890A>C (p.Gln2297Pro)	472	ATM	Conflicting interpretations of pathogenicity	1565520560	RCV000687278\|RCV003163112;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196867	108196867	NC_000011.9:g.108196867A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6891A>G (p.Gln2297=)	472	ATM	Conflicting interpretations of pathogenicity	773545588	RCV000229076\|RCV000567078;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196868	108196868		ClinGen:CA6266028	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6892G>A (p.Val2298Ile)	472	ATM	Uncertain significance	1204077610	RCV001327751\|RCV002368108;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196869	108196869	108196869	-
NM_000051.4(ATM):c.6893T>C (p.Val2298Ala)	472	ATM	Uncertain significance	1565520607	RCV000696861;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196870	108196870	NC_000011.9:g.108196870T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6894A>G (p.Val2298=)	472	ATM	Likely benign	2136335688	RCV002099237;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196871	108196871		-
NM_000051.4(ATM):c.6895T>C (p.Phe2299Leu)	472	ATM	Uncertain significance	1555119886	RCV000543805\|RCV002376972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196872	108196872	11:g.108196872T>C	ClinGen:CA382556911	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6897C>T (p.Phe2299=)	472	ATM	Likely benign	777164914	RCV000222704\|RCV000435798\|RCV000474934;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196874	108196874		ClinGen:CA6266029	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6897C>G (p.Phe2299Leu)	472	ATM	Uncertain significance	777164914	RCV000476446\|RCV002374772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196874	108196874	NC_000011.9:g.108196874C>G	ClinGen:CA16613197	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6898T>G (p.Trp2300Gly)	472	ATM	Conflicting interpretations of pathogenicity	1565520641	RCV000772397\|RCV000693600\|RCV001356011;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108196875	108196875	NC_000011.9:g.108196875T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6899G>C (p.Trp2300Ser)	472	ATM	Conflicting interpretations of pathogenicity	1555119899	RCV000677225;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196876	108196876	11:g.108196876G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6900G>C (p.Trp2300Cys)	472	ATM	Uncertain significance	1591133875	RCV000819443\|RCV001025788\|RCV003467492;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196877	108196877	11:g.108196877G>C	-
NM_000051.4(ATM):c.6901G>A (p.Ala2301Thr)	472	ATM	Uncertain significance	1060501668	RCV000468938\|RCV000572377;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196878	108196878	NC_000011.9:g.108196878G>A	ClinGen:CA16613422	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6901G>C (p.Ala2301Pro)	472	ATM	Uncertain significance	1060501668	RCV000563605\|RCV000628105;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196878	108196878	NC_000011.9:g.108196878G>C	ClinGen:CA382556960	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6908dup (p.Glu2304fs)	472	ATM	Pathogenic	773570504	RCV000536511\|RCV000574307\|RCV001796095\|RCV003155948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196879	108196880	NC_000011.9:g.108196885dup	ClinGen:CA6266030	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6903A>G (p.Ala2301=)	472	ATM	Likely benign	-1	RCV003033077;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196880	108196880		-
NM_000051.4(ATM):c.6904A>G (p.Lys2302Glu)	472	ATM	Uncertain significance	2085658893	RCV001067872;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196881	108196881	11:g.108196881A>G	-
NM_000051.4(ATM):c.6904A>T (p.Lys2302Ter)	472	ATM	Pathogenic	2085658893	RCV001244217;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196881	108196881	11:g.108196881A>T	-
NM_000051.4(ATM):c.6905A>G (p.Lys2302Arg)	472	ATM	Uncertain significance	1297586575	RCV000573901\|RCV002530300;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196882	108196882	NC_000011.9:g.108196882A>G	ClinGen:CA382556982	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6907A>T (p.Lys2303Ter)	472	ATM	Pathogenic	-1	RCV003034960;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196884	108196884	NC_000011.9:g.108196884A>T	-
NM_000051.4(ATM):c.6908A>T (p.Lys2303Met)	472	ATM	Conflicting interpretations of pathogenicity	1064795166	RCV000485190\|RCV000560466\|RCV001025791;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196885	108196885	11:g.108196885A>T	ClinGen:CA16619222	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6910del (p.Glu2304fs)	472	ATM	Pathogenic	1555119940	RCV000544734\|RCV003159703\|RCV003159704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108196886	108196886	NC_000011.9:g.108196887del	ClinGen:CA658656278	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6909G>A (p.Lys2303=)	472	ATM	Likely benign	-1	RCV003005534;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196886	108196886		-
NM_000051.4(ATM):c.6911A>G (p.Glu2304Gly)	472	ATM	Uncertain significance	-1	RCV002909767;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196888	108196888	NC_000011.9:g.108196888A>G	-
NM_000051.4(ATM):c.6912G>C (p.Glu2304Asp)	472	ATM	Uncertain significance	771382172	RCV001866824;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196889	108196889	108196889	-
NM_000051.4(ATM):c.6912G>A (p.Glu2304=)	472	ATM	Likely benign	-1	RCV002362353\|RCV003098416;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196889	108196889		-
NM_000051.4(ATM):c.6913C>T (p.Gln2305Ter)	472	ATM	Pathogenic	1282099124	RCV000575199\|RCV001208902\|RCV001798899;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108196890	108196890	NC_000011.9:g.108196890C>T	ClinGen:CA382557041	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6916_6917del (p.Leu2307fs)	472	ATM	Pathogenic	878853535	RCV000234351\|RCV000235684\|RCV001025799\|RCV001357898\|RCV003463632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196891	108196892	NC_000011.9:g.108196891AG[1]	ClinGen:CA10582843	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6918T>C (p.Ser2306=)	472	ATM	Likely benign	1555119959	RCV000572569\|RCV001480830;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196895	108196895		ClinGen:CA476676363
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe)	472	ATM	Conflicting interpretations of pathogenicity	56009889	RCV000115235\|RCV000120155\|RCV000586678\|RCV000988720\|RCV001354648;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108196896	108196896	11:g.108196896C>T	ClinGen:CA157162,UniProtKB:Q13315#VAR_041573	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6919C>G (p.Leu2307Val)	472	ATM	Uncertain significance	56009889	RCV001231390\|RCV002366035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196896	108196896	11:g.108196896C>G	-
NM_000051.4(ATM):c.6920T>A (p.Leu2307His)	472	ATM	Uncertain significance	2085661534	RCV001045919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196897	108196897	11:g.108196897T>A	-
NM_000051.4(ATM):c.6921T>G (p.Leu2307=)	472	ATM	Likely benign	1555119966	RCV000581199\|RCV002529194;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196898	108196898		ClinGen:CA476676368	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6921T>C (p.Leu2307=)	472	ATM	Likely benign	-1	RCV002829082;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196898	108196898		-
NM_000051.4(ATM):c.6922G>T (p.Ala2308Ser)	472	ATM	Uncertain significance	1591134072	RCV000819115\|RCV001025810;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196899	108196899	11:g.108196899G>T	-
NM_000051.4(ATM):c.6922G>A (p.Ala2308Thr)	472	ATM	Uncertain significance	1591134072	RCV001239303\|RCV002469359\|RCV003284105;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196899	108196899	11:g.108196899G>A	-
NM_000051.4(ATM):c.6922del (p.Ala2308fs)	472	ATM	Pathogenic	2136337304	RCV001932066;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196899	108196899	108196898	-
NM_000051.4(ATM):c.6923C>T (p.Ala2308Val)	472	ATM	Uncertain significance	876658454	RCV000219465\|RCV000694861;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196900	108196900	11:g.108196900C>T	ClinGen:CA10579239	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6924C>A (p.Ala2308=)	472	ATM	Likely benign	759878732	RCV000536214\|RCV000564910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196901	108196901		ClinGen:CA6266032	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6924C>T (p.Ala2308=)	472	ATM	Likely benign	759878732	RCV001186770\|RCV002559947;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196901	108196901		-
NM_000051.4(ATM):c.6925C>T (p.Leu2309=)	472	ATM	Likely benign	763839047	RCV000163057\|RCV000206244\|RCV000423975\|RCV001356434;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108196902	108196902		ClinGen:CA187340	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6927G>T (p.Leu2309=)	472	ATM	Likely benign	876660429	RCV000221779\|RCV000548994;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196904	108196904		ClinGen:CA10579240	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6927G>A (p.Leu2309=)	472	ATM	Likely benign	876660429	RCV000943056\|RCV002372633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196904	108196904		-
NM_000051.4(ATM):c.6928_6929del (p.Ser2310fs)	472	ATM	Pathogenic	2085663022	RCV001213424;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196904	108196905	11:g.108196904_108196905del	-
NM_000051.4(ATM):c.6928A>G (p.Ser2310Gly)	472	ATM	Uncertain significance	572301723	RCV001297061\|RCV002366123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196905	108196905	108196905	-
NM_000051.4(ATM):c.6929G>A (p.Ser2310Asn)	472	ATM	Uncertain significance	1381019767	RCV000524990\|RCV001025812\|RCV003470680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196906	108196906	11:g.108196906G>A	ClinGen:CA382557159	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6930T>C (p.Ser2310=)	472	ATM	Likely benign	876660710	RCV000223131\|RCV001478187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196907	108196907		ClinGen:CA10579241
NM_000051.4(ATM):c.6931A>G (p.Ile2311Val)	472	ATM	Uncertain significance	776429506	RCV000704498\|RCV003465632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196908	108196908	NC_000011.9:g.108196908A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6935T>C (p.Leu2312Pro)	472	ATM	Uncertain significance	761352263	RCV000809328\|RCV001025816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196912	108196912	11:g.108196912T>C	-
NM_000051.4(ATM):c.6935T>A (p.Leu2312His)	472	ATM	Uncertain significance	-1	RCV002933076;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196912	108196912	NC_000011.9:g.108196912T>A	-
NM_000051.4(ATM):c.6936C>T (p.Leu2312=)	472	ATM	Likely benign	1555119992	RCV000537152;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196913	108196913		ClinGen:CA476676388	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6937A>T (p.Lys2313Ter)	472	ATM	Pathogenic	2136338211	RCV001885899\|RCV002370423;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196914	108196914	108196914	-
NM_000051.4(ATM):c.6942A>C (p.Gln2314His)	472	ATM	Uncertain significance	764859160	RCV000458028\|RCV001025830\|RCV003226931\|RCV003470422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196919	108196919	NC_000011.9:g.108196919A>C	ClinGen:CA6266035	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6944T>C (p.Met2315Thr)	472	ATM	Uncertain significance	1555120006	RCV000573776\|RCV000705568;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196921	108196921	NC_000011.9:g.108196921T>C	ClinGen:CA382557267	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6945G>A (p.Met2315Ile)	472	ATM	Uncertain significance	1555120014	RCV000627847\|RCV000772770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196922	108196922	NC_000011.9:g.108196922G>A	ClinGen:CA382557268	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6946A>T (p.Ile2316Phe)	472	ATM	Uncertain significance	2136338816	RCV001970267;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196923	108196923	108196923	-
NM_000051.4(ATM):c.6947T>A (p.Ile2316Asn)	472	ATM	Uncertain significance	1591134289	RCV001338278;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196924	108196924	108196924	-
NM_000051.4(ATM):c.6947T>C (p.Ile2316Thr)	472	ATM	Uncertain significance	1591134289	RCV001370928;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196924	108196924	108196924	-
NM_000051.4(ATM):c.6950A>C (p.Lys2317Thr)	472	ATM	Uncertain significance	750285816	RCV000561076\|RCV000628114;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196927	108196927	NC_000011.9:g.108196927A>C	ClinGen:CA6266036	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6951G>A (p.Lys2317=)	472	ATM	Likely benign	1591134349	RCV002146964;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196928	108196928		-
NM_000051.4(ATM):c.6952A>C (p.Lys2318Gln)	472	ATM	Uncertain significance	1449259481	RCV000566540\|RCV000818244\|RCV001030601\|RCV001192419\|RCV001770510;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MedGen:C3661900	11	108196929	108196929	11:g.108196929A>C	ClinGen:CA382557330	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6952A>G (p.Lys2318Glu)	472	ATM	Uncertain significance	1449259481	RCV000627962\|RCV001766331\|RCV002360486\|RCV003465371;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196929	108196929	NC_000011.9:g.108196929A>G	ClinGen:CA382557332	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6955T>A (p.Leu2319Met)	472	ATM	Uncertain significance	1555120047	RCV000574180\|RCV002298679;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196932	108196932	NC_000011.9:g.108196932T>A	ClinGen:CA382557347	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6955T>C (p.Leu2319=)	472	ATM	Likely benign	-1	RCV002853373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196932	108196932		-
NM_000051.4(ATM):c.6956T>G (p.Leu2319Trp)	472	ATM	Uncertain significance	1555120049	RCV000549620\|RCV002367753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196933	108196933	11:g.108196933T>G	ClinGen:CA382557354	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6956T>C (p.Leu2319Ser)	472	ATM	Uncertain significance	1555120049	RCV001323902\|RCV003405547;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108196933	108196933	108196933	-
NM_000051.4(ATM):c.6958G>T (p.Asp2320Tyr)	472	ATM	Uncertain significance	1565521026	RCV000704035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196935	108196935	NC_000011.9:g.108196935G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6959A>G (p.Asp2320Gly)	472	ATM	Uncertain significance	1060501640	RCV000476442\|RCV000584156;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196936	108196936	NC_000011.9:g.108196936A>G	ClinGen:CA16613115	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6961G>C (p.Ala2321Pro)	472	ATM	Uncertain significance	1060501538	RCV000465282;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196938	108196938	NC_000011.9:g.108196938G>C	ClinGen:CA16613474	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6962C>A (p.Ala2321Asp)	472	ATM	Uncertain significance	1383763069	RCV001103935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196939	108196939	11:g.108196939C>A	-
NM_000051.4(ATM):c.6963C>T (p.Ala2321=)	472	ATM	Likely benign	1555120057	RCV000563864\|RCV000983245;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196940	108196940		ClinGen:CA476676410	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6965G>A (p.Ser2322Asn)	472	ATM	Uncertain significance	876659183	RCV001216441;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196942	108196942	11:g.108196942G>A	-
NM_000051.4(ATM):c.6966C>T (p.Ser2322=)	472	ATM	Likely benign	864622593	RCV000562923\|RCV000779804\|RCV001442972;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196943	108196943		ClinGen:CA350385
NM_000051.4(ATM):c.6968G>T (p.Cys2323Phe)	472	ATM	Uncertain significance	876660924	RCV000220691\|RCV001349704\|RCV003338471;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196945	108196945	11:g.108196945G>T	ClinGen:CA10579243	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6968G>A (p.Cys2323Tyr)	472	ATM	Uncertain significance	876660924	RCV000774551\|RCV000815002\|RCV001798976;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108196945	108196945	NC_000011.9:g.108196945G>A	-
NM_000051.4(ATM):c.6971C>T (p.Ala2324Val)	472	ATM	Uncertain significance	2136340286	RCV002048448;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196948	108196948	108196948	-
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val)	472	ATM	Uncertain significance	200940211	RCV000115236\|RCV000122881\|RCV000212052\|RCV001375520\|RCV002477275\|RCV003460809;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108196951	108196951	NC_000011.9:g.108196951C>T	ClinGen:CA286950	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975G>A (p.Ala2325=)	472	ATM	Conflicting interpretations of pathogenicity	556778314	RCV000130288\|RCV000196388\|RCV000679141\|RCV002243794\|RCV002469019;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374	11	108196952	108196952		ClinGen:CA166105	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975G>C (p.Ala2325=)	472	ATM	Uncertain significance	556778314	RCV000215860\|RCV000481810\|RCV000538344\|RCV000764940\|RCV001354654\|RCV003235145;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108196952	108196952		ClinGen:CA10579244
NM_000051.4(ATM):c.6975G>T (p.Ala2325=)	472	ATM	Uncertain significance	556778314	RCV000461037\|RCV000775806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196952	108196952		ClinGen:CA16613476	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+5_6975+8del	472	ATM	Uncertain significance	1565521135	RCV000701989\|RCV002360804;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196953	108196956	NC_000011.9:g.108196953GTTT[1]	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+1G>T	472	ATM	Likely pathogenic	1565521129	RCV000691522\|RCV001025866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196953	108196953	11:g.108196953G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+1G>A	472	ATM	Likely pathogenic	1565521129	RCV001959304\|RCV002361317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196953	108196953	108196953	-
NM_000051.4(ATM):c.6975+5_6975+9del	472	ATM	Uncertain significance	1555120086	RCV000669257\|RCV002360698;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196954	108196958	11:g.108196954_108196958del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+4T>A	472	ATM	Uncertain significance	876660240	RCV000214086\|RCV001059044;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196956	108196956	11:g.108196956T>A	ClinGen:CA10579245	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6975+5_6975+6del	472	ATM	Uncertain significance	1064794094	RCV000485208\|RCV001271175;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196956	108196957	11:g.108196956_108196957del	ClinGen:CA16619224	CN169374 not specified;
NM_000051.4(ATM):c.6975+4T>G	472	ATM	Uncertain significance	876660240	RCV000808404\|RCV001025867\|RCV003155317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108196956	108196956	11:g.108196956T>G	-
NM_000051.4(ATM):c.6975+13dup	472	ATM	Benign/Likely benign	763287238	RCV000204153\|RCV000481249\|RCV000579412\|RCV001354754\|RCV002503809;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO	11	108196957	108196958	NC_000011.9:g.108196965dup	ClinGen:CA339329	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+5G>T	472	ATM	Uncertain significance	575354684	RCV000223599\|RCV000525908\|RCV002472972\|RCV003469039;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108196957	108196957	11:g.108196957G>T	ClinGen:CA6266037	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+5del	472	ATM	Uncertain significance	1442949382	RCV000565215\|RCV001304121;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196957	108196957	NC_000011.9:g.108196957del	ClinGen:CA658656284	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6975+5G>C	472	ATM	Uncertain significance	575354684	RCV001911204;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196957	108196957	108196957	-
NM_000051.4(ATM):c.6975+13del	472	ATM	Conflicting interpretations of pathogenicity	763287238	RCV000203999\|RCV000485948\|RCV000771929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108196958	108196958	11:g.108196958_108196958del	ClinGen:CA348275	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+6T>C	472	ATM	Uncertain significance	1169579742	RCV000689546;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196958	108196958	11:g.108196958T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+7T>A	472	ATM	Likely benign	754834282	RCV000200740\|RCV000580211\|RCV000609358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108196959	108196959	NC_000011.9:g.108196959T>A	ClinGen:CA339515	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6975+7T>G	472	ATM	Likely benign	754834282	RCV000615380\|RCV001500160;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196959	108196959	11:g.108196959T>G	ClinGen:CA658797762	CN169374 not specified;
NM_000051.4(ATM):c.6975+8T>C	472	ATM	Likely benign	2136341429	RCV001506356;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196960	108196960	108196960	-
NM_000051.4(ATM):c.6975+9T>C	472	ATM	Likely benign	1290573965	RCV001406535;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196961	108196961	11:g.108196961T>C	-
NM_000051.4(ATM):c.6975+9T>G	472	ATM	Likely benign	-1	RCV002740246;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196961	108196961	NC_000011.9:g.108196961T>G	-
NM_000051.4(ATM):c.6975+14dup	472	ATM	Likely benign	1555120120	RCV000480685\|RCV000775940\|RCV002063773;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196965	108196966	11:g.108196965_108196966insA	ClinGen:CA16619225	CN169374 not specified;
NM_000051.4(ATM):c.6975+14del	472	ATM	Likely benign	2136341824	RCV002088699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196966	108196966	108196965	-
NM_000051.4(ATM):c.6975+18G>C	472	ATM	Likely benign	2136342020	RCV002162449;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196970	108196970	108196970	-
NM_000051.4(ATM):c.6975+20T>C	472	ATM	Likely benign	781322757	RCV002181832;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196972	108196972	108196972	-
NM_000051.4(ATM):c.6975+20T>A	472	ATM	Likely benign	-1	RCV003020366;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108196972	108196972	NC_000011.9:g.108196972T>A	-
NM_000051.4(ATM):c.6976-19T>C	472	ATM	Benign/Likely benign	1026199027	RCV000584078\|RCV001536919\|RCV002061681;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198353	108198353	NC_000011.9:g.108198353T>C	ClinGen:CA228414207	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6976-16T>C	472	ATM	Likely benign	-1	RCV002721864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198356	108198356	NC_000011.9:g.108198356T>C	-
NM_000051.4(ATM):c.6976-10_6989del	472	ATM	Pathogenic/Likely pathogenic	587779859	RCV000115237\|RCV000456935;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198361	108198384	NC_000011.9:g.108198362_108198385del	ClinGen:CA286953	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6976-11T>C	472	ATM	Conflicting interpretations of pathogenicity	1565523441	RCV000773810\|RCV002067277;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198361	108198361	NC_000011.9:g.108198361T>C	-
NM_000051.4(ATM):c.6976-11T>A	472	ATM	Likely benign	1565523441	RCV002135910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198361	108198361	108198361	-
NC_000011.10:g.(?_108327635)_(108331567_?)del	472	ATM	Pathogenic	-1	RCV000708417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198362	108202294		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6976-9del	472	ATM	Uncertain significance	2136372040	RCV001989026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198363	108198363	108198362	-
NM_000051.4(ATM):c.6976-9C>A	472	ATM	Likely benign	-1	RCV002643445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198363	108198363	NC_000011.9:g.108198363C>A	-
NM_000051.4(ATM):c.6976-8T>A	472	ATM	Likely benign	2136372089	RCV002165572;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198364	108198364	108198364	-
NM_000051.4(ATM):c.6976-6dup	472	ATM	Conflicting interpretations of pathogenicity	760058702	RCV000472356\|RCV001249859;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108198365	108198366	NC_000011.9:g.108198366dup	ClinGen:CA6266049	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6976-7T>A	472	ATM	Uncertain significance	2085807343	RCV001234009;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198365	108198365	11:g.108198365T>A	-
NM_000051.4(ATM):c.6976-6A>G	472	ATM	Likely benign	2136372183	RCV001400043;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198366	108198366	108198366	-
NM_000051.4(ATM):c.6976-6A>T	472	ATM	Likely benign	2136372183	RCV001499876;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198366	108198366	108198366	-
NM_000051.4(ATM):c.6976-5T>C	472	ATM	Likely benign	1555120913	RCV000615035\|RCV001442234\|RCV002377259;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198367	108198367	11:g.108198367T>C	ClinGen:CA658797764	CN169374 not specified;
NM_000051.4(ATM):c.6976-5T>G	472	ATM	Uncertain significance	-1	RCV002928005;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198367	108198367	NC_000011.9:g.108198367T>G	-
NM_000051.4(ATM):c.6976-4A>G	472	ATM	Likely benign	2136372366	RCV001399006;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198368	108198368	108198368	-
NM_000051.4(ATM):c.6976-4A>T	472	ATM	Likely benign	-1	RCV002876576;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198368	108198368	NC_000011.9:g.108198368A>T	-
NM_000051.4(ATM):c.6976-3_6976-2insT	472	ATM	Uncertain significance	1060501533	RCV000458913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198369	108198370	NC_000011.9:g.108198369_108198370insT	ClinGen:CA16613119	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6976-3C>G	472	ATM	Uncertain significance	898003667	RCV001957278;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198369	108198369	108198369	-
NM_000051.4(ATM):c.6976-2A>C	472	ATM	Pathogenic/Likely pathogenic	587782403	RCV000131437\|RCV000212053\|RCV000228133\|RCV001171406;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198370	108198370	11:g.108198370A>C	ClinGen:CA294376	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6976-2A>T	472	ATM	Pathogenic	587782403	RCV002003199;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198370	108198370	108198370	-
NM_000051.4(ATM):c.6976-1G>T	472	ATM	Pathogenic/Likely pathogenic	1591141963	RCV000805322\|RCV001025869;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198371	108198371	11:g.108198371G>T	-
NM_000051.4(ATM):c.6976-1G>A	472	ATM	Pathogenic	1591141963	RCV000793262;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198371	108198371	11:g.108198371G>A	-
NC_000011.10:g.(?_108327645)_(108331557_?)del	472	ATM	Likely pathogenic	-1	RCV000469538;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198372	108202284		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6979A>G (p.Asn2327Asp)	472	ATM	Uncertain significance	2085809640	RCV001348609;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198375	108198375	108198375	-
NM_000051.4(ATM):c.6980A>T (p.Asn2327Ile)	472	ATM	Uncertain significance	761587154	RCV000582937\|RCV001061988;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198376	108198376	NC_000011.9:g.108198376A>T	ClinGen:CA6266050	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6982C>G (p.Pro2328Ala)	472	ATM	Uncertain significance	769606850	RCV000797849;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198378	108198378	11:g.108198378C>G	-
NM_000051.4(ATM):c.6983C>T (p.Pro2328Leu)	472	ATM	Uncertain significance	786202730	RCV000165686\|RCV000198236\|RCV000479538\|RCV001193602\|RCV003468751;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198379	108198379	11:g.108198379C>T	ClinGen:CA193989	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6986G>C (p.Ser2329Thr)	472	ATM	Uncertain significance	2085810826	RCV001066337;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198382	108198382	11:g.108198382G>C	-
NM_000051.4(ATM):c.6987C>G (p.Ser2329Arg)	472	ATM	Conflicting interpretations of pathogenicity	1591142078	RCV000988721\|RCV001189538;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198383	108198383	11:g.108198383C>G	-
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val)	472	ATM	Conflicting interpretations of pathogenicity	148432863	RCV000115238\|RCV000122882\|RCV000212054\|RCV000587802\|RCV002225325;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108198384	108198384	NC_000011.9:g.108198384C>G	ClinGen:CA286954	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6990A>G (p.Leu2330=)	472	ATM	Likely benign	2136373497	RCV001444268\|RCV003355479;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198386	108198386		-
NM_000051.4(ATM):c.6994C>T (p.Leu2332Phe)	472	ATM	Uncertain significance	762427092	RCV000571555\|RCV001858065;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198390	108198390	NC_000011.9:g.108198390C>T	ClinGen:CA6266052	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.6994C>G (p.Leu2332Val)	472	ATM	Uncertain significance	762427092	RCV001025889\|RCV001063587;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198390	108198390	11:g.108198390C>G	-
NM_000051.4(ATM):c.6996dup (p.Thr2333fs)	472	ATM	Pathogenic	2136373820	RCV001990001;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198390	108198391	108198390	-
NM_000051.4(ATM):c.6995T>C (p.Leu2332Pro)	472	ATM	Benign	4988111	RCV000120156\|RCV000128891\|RCV000224405\|RCV001080466\|RCV001357692\|RCV001798379\|RCV002225365\|RCV002221490\|RCV002483213;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C06	11	108198391	108198391	11:g.108198391T>C	ClinGen:CA157165,UniProtKB:Q13315#VAR_041574	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6995T>G (p.Leu2332Arg)	472	ATM	Uncertain significance	4988111	RCV000200767\|RCV002372185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198391	108198391	NC_000011.9:g.108198391T>G	ClinGen:CA339534	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6997dup	472	ATM	Pathogenic	587781299	RCV000129007\|RCV000205392\|RCV000236518\|RCV002221494\|RCV002498639;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480	11	108198392	108198393	11:g.108198392_108198393insA	ClinGen:CA345709	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7000_7003del (p.Tyr2334fs)	472	ATM	Pathogenic/Likely pathogenic	786203421	RCV000166719\|RCV000232032\|RCV001657927\|RCV003468792;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198392	108198395	11:g.108198392_108198395del	ClinGen:CA196561	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6996T>G (p.Leu2332=)	472	ATM	Likely benign	2136373865	RCV002155639;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198392	108198392		-
NM_000051.4(ATM):c.6998C>A (p.Thr2333Lys)	472	ATM	Conflicting interpretations of pathogenicity	150503164	RCV000115239\|RCV000212056\|RCV001079437\|RCV001201251\|RCV001843477;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|Human Phenotype Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624, Orphanet:449	11	108198394	108198394	NC_000011.9:g.108198394C>A	ClinGen:CA286957	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6998C>T (p.Thr2333Ile)	472	ATM	Conflicting interpretations of pathogenicity	150503164	RCV000115240\|RCV000206376\|RCV000590099\|RCV000855568;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108198394	108198394	NC_000011.9:g.108198394C>T	ClinGen:CA286960	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.6998C>G (p.Thr2333Arg)	472	ATM	Uncertain significance	150503164	RCV001320649\|RCV002366183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198394	108198394	108198394	-
NM_000051.4(ATM):c.6999A>G (p.Thr2333=)	472	ATM	Likely benign	759267807	RCV000221555\|RCV000710679\|RCV001087280\|RCV003150126;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108198395	108198395		ClinGen:CA6266053
NM_000051.4(ATM):c.7000T>C (p.Tyr2334His)	472	ATM	Uncertain significance	1064793312	RCV000479256\|RCV000581847\|RCV001064965\|RCV003470529;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198396	108198396	11:g.108198396T>C	ClinGen:CA16619226	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7001A>G (p.Tyr2334Cys)	472	ATM	Uncertain significance	879254258	RCV000235297\|RCV000822502;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198397	108198397	NC_000011.9:g.108198397A>G	ClinGen:CA10584361	CN169374 not specified;
NM_000051.4(ATM):c.7002C>G (p.Tyr2334Ter)	472	ATM	Pathogenic	2136374351	RCV001944161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198398	108198398	108198398	-
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile)	472	ATM	Conflicting interpretations of pathogenicity	3092831	RCV000166521\|RCV000168468\|RCV000586878\|RCV000855628\|RCV003468785;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198400	108198400	11:g.108198400C>T	ClinGen:CA196086	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7005A>G (p.Thr2335=)	472	ATM	Likely benign	1555120978	RCV000628306\|RCV001189992;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198401	108198401		ClinGen:CA476676439	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7008A>G (p.Glu2336=)	472	ATM	Likely benign	2136374637	RCV001406827\|RCV002368271;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198404	108198404		-
NM_000051.4(ATM):c.7010_7011del (p.Cys2337fs)	472	ATM	Pathogenic	864622416	RCV000205757\|RCV000484538\|RCV001025926\|RCV002288829;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198405	108198406	11:g.108198405_108198406del	ClinGen:CA349869	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7010_7065dup (p.Ile2356delinsValTer)	472	ATM	Pathogenic	1555120985	RCV000295592\|RCV002365292\|RCV002519063;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198405	108198406	11:g.108198405_108198406insGTCTGAGGGTTTGTGGCAACTGGTTAGCAGAAACGTGCTTAGAAAATCCTGCGGTC	ClinGen:CA10603232	CN517202 not provided;
NM_000051.4(ATM):c.7009T>C (p.Cys2337Arg)	472	ATM	Uncertain significance	2136374685	RCV001913831\|RCV002370508;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198405	108198405	108198405	-
NM_000051.4(ATM):c.7010G>A (p.Cys2337Tyr)	472	ATM	Uncertain significance	876658563	RCV000219690\|RCV000819718\|RCV002260631;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108198406	108198406	11:g.108198406G>A	ClinGen:CA10579246	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7011T>G (p.Cys2337Trp)	472	ATM	Uncertain significance	878853536	RCV000228866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198407	108198407	11:g.108198407T>G	ClinGen:CA10582844	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7011T>C (p.Cys2337=)	472	ATM	Likely benign	878853536	RCV000628240\|RCV003362864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198407	108198407		ClinGen:CA476676442
NM_000051.4(ATM):c.7012C>T (p.Leu2338=)	472	ATM	Likely benign	1555120990	RCV000628292;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198408	108198408		ClinGen:CA476676443	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7012C>G (p.Leu2338Val)	472	ATM	Uncertain significance	1555120990	RCV000758168\|RCV001869031;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198408	108198408	NC_000011.9:g.108198408C>G	-
NM_000051.4(ATM):c.7013_7014del (p.Leu2338fs)	472	ATM	Pathogenic/Likely pathogenic	1591142418	RCV001025928\|RCV002551943\|RCV003473603;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198409	108198410	11:g.108198409_108198410del	-
NM_000051.4(ATM):c.7015A>C (p.Arg2339=)	472	ATM	Likely benign	752531255	RCV001450403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198411	108198411		-
NM_000051.4(ATM):c.7016G>A (p.Arg2339Lys)	472	ATM	Uncertain significance	1305313302	RCV000540394\|RCV000570088\|RCV002490927\|RCV003330746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Me	11	108198412	108198412	11:g.108198412G>A	ClinGen:CA382558737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7017G>A (p.Arg2339=)	472	ATM	Likely benign	1591142466	RCV000931418\|RCV001025929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198413	108198413		-
NM_000051.4(ATM):c.7018G>A (p.Val2340Ile)	472	ATM	Uncertain significance	876659429	RCV000222728\|RCV001853564;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198414	108198414	11:g.108198414G>A	ClinGen:CA10579247	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7021dup (p.Cys2341fs)	472	ATM	Pathogenic	2136375625	RCV001970099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198414	108198415	108198414	-
NM_000051.4(ATM):c.7023T>C (p.Cys2341=)	472	ATM	Likely benign	878853537	RCV000231624\|RCV001025938;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198419	108198419		ClinGen:CA10582845	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7024G>A (p.Gly2342Ser)	472	ATM	Uncertain significance	1555121015	RCV000552878;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198420	108198420	11:g.108198420G>A	ClinGen:CA382558799	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7025del (p.Gly2342fs)	472	ATM	Pathogenic	2136375832	RCV001928592;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198420	108198420	108198419	-
NM_000051.4(ATM):c.7024G>T (p.Gly2342Cys)	472	ATM	Uncertain significance	1555121015	RCV001927681;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198420	108198420	108198420	-
NM_000051.4(ATM):c.7029C>T (p.Asn2343=)	472	ATM	Likely benign	1251099495	RCV001481605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198425	108198425		-
NM_000051.4(ATM):c.7032G>A (p.Trp2344Ter)	472	ATM	Pathogenic/Likely pathogenic	1131691162	RCV000493110\|RCV000628129\|RCV002496891\|RCV003470609;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MO	11	108198428	108198428	11:g.108198428G>A	ClinGen:CA382558847	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7033T>G (p.Leu2345Val)	472	ATM	Uncertain significance	1555121048	RCV000566882\|RCV001068339;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198429	108198429	NC_000011.9:g.108198429T>G	ClinGen:CA382558855	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7034T>C (p.Leu2345Ser)	472	ATM	Uncertain significance	2136376523	RCV002026129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198430	108198430	108198430	-
NM_000051.4(ATM):c.7036G>A (p.Ala2346Thr)	472	ATM	Uncertain significance	144497088	RCV000204861\|RCV000216168\|RCV000483768;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108198432	108198432	11:g.108198432G>A	ClinGen:CA349056	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7036G>C (p.Ala2346Pro)	472	ATM	Uncertain significance	144497088	RCV001972942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198432	108198432	108198432	-
NM_000051.4(ATM):c.7039_7041dup (p.Glu2347_Thr2348insGlu)	472	ATM	Uncertain significance	2085819624	RCV001056851\|RCV001759807;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108198433	108198434	11:g.108198433_108198434insAGA	-
NM_000051.4(ATM):c.7037C>T (p.Ala2346Val)	472	ATM	Uncertain significance	2085819145	RCV001203737\|RCV002249790;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108198433	108198433	11:g.108198433C>T	-
NM_000051.4(ATM):c.7038A>T (p.Ala2346=)	472	ATM	Benign/Likely benign	146167034	RCV000166493\|RCV000423678\|RCV000477260;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198434	108198434		ClinGen:CA196020	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7038A>G (p.Ala2346=)	472	ATM	Likely benign	146167034	RCV000590767\|RCV000772499\|RCV001471256;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198434	108198434		ClinGen:CA476676469	CN517202 not provided;
NM_000051.4(ATM):c.7043C>T (p.Thr2348Met)	472	ATM	Uncertain significance	866740291	RCV000811461\|RCV002363099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198439	108198439	11:g.108198439C>T	-
NM_000051.4(ATM):c.7044G>A (p.Thr2348=)	472	ATM	Conflicting interpretations of pathogenicity	140104789	RCV000123712\|RCV000196795\|RCV000212057\|RCV003315830;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198440	108198440		ClinGen:CA289519
NM_000051.4(ATM):c.7044G>T (p.Thr2348=)	472	ATM	Likely benign	140104789	RCV001398216;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198440	108198440		-
NM_000051.4(ATM):c.7046G>A (p.Cys2349Tyr)	472	ATM	Uncertain significance	1223489931	RCV001203999\|RCV002365918;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198442	108198442	11:g.108198442G>A	-
NM_000051.4(ATM):c.7046G>T (p.Cys2349Phe)	472	ATM	Uncertain significance	1223489931	RCV001327586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198442	108198442	108198442	-
NM_000051.4(ATM):c.7047C>T (p.Cys2349=)	472	ATM	Likely benign	-1	RCV003003157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198443	108198443		-
NM_000051.4(ATM):c.7048T>C (p.Leu2350=)	472	ATM	Likely benign	2136377415	RCV001404795;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198444	108198444		-
NM_000051.4(ATM):c.7052A>G (p.Glu2351Gly)	472	ATM	Uncertain significance	1591142696	RCV000810408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198448	108198448	11:g.108198448A>G	-
NM_000051.4(ATM):c.7057C>A (p.Pro2353Thr)	472	ATM	Uncertain significance	1591142717	RCV001025975\|RCV001862348;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198453	108198453	11:g.108198453C>A	-
NM_000051.4(ATM):c.7057C>G (p.Pro2353Ala)	472	ATM	Uncertain significance	1591142717	RCV001068750;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198453	108198453	11:g.108198453C>G	-
NM_000051.4(ATM):c.7058C>T (p.Pro2353Leu)	472	ATM	Uncertain significance	2136377844	RCV001895514\|RCV002361154;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198454	108198454	108198454	-
NM_000051.4(ATM):c.7059T>C (p.Pro2353=)	472	ATM	Likely benign	-1	RCV002365000\|RCV003098455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198455	108198455		-
NM_000051.4(ATM):c.7060G>A (p.Ala2354Thr)	472	ATM	Uncertain significance	1591142727	RCV001025984\|RCV001205322;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198456	108198456	11:g.108198456G>A	-
NM_000051.4(ATM):c.7061C>T (p.Ala2354Val)	472	ATM	Uncertain significance	1555121079	RCV000533148\|RCV001025985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198457	108198457	11:g.108198457C>T	ClinGen:CA382559026	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7061C>A (p.Ala2354Glu)	472	ATM	Uncertain significance	1555121079	RCV001234932\|RCV003166447;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198457	108198457	11:g.108198457C>A	-
NM_000051.4(ATM):c.7062G>A (p.Ala2354=)	472	ATM	Benign/Likely benign	143489373	RCV000163752\|RCV000226530\|RCV001288457\|RCV001192848;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108198458	108198458		ClinGen:CA189107
NM_000051.4(ATM):c.7062G>C (p.Ala2354=)	472	ATM	Likely benign	143489373	RCV000567304\|RCV001489207;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198458	108198458		ClinGen:CA16613484
NM_000051.4(ATM):c.7064T>A (p.Val2355Asp)	472	ATM	Uncertain significance	1197214197	RCV001025989\|RCV001307748\|RCV003467687;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198460	108198460	11:g.108198460T>A	-
NM_000051.4(ATM):c.7065C>T (p.Val2355=)	472	ATM	Likely benign	2136378354	RCV001427273;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198461	108198461		-
NM_000051.4(ATM):c.7066A>G (p.Ile2356Val)	472	ATM	Uncertain significance	876658517	RCV000545619\|RCV001025990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198462	108198462	11:g.108198462A>G	ClinGen:CA382559059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7070_7072dup (p.Met2357_Gln2358insLeu)	472	ATM	Uncertain significance	1591142874	RCV000822787;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198465	108198466	11:g.108198465_108198466insTGC	-
NM_000051.4(ATM):c.7070T>C (p.Met2357Thr)	472	ATM	Uncertain significance	1591142855	RCV001026003\|RCV001862349;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198466	108198466	11:g.108198466T>C	-
NM_000051.4(ATM):c.7070T>A (p.Met2357Lys)	472	ATM	Uncertain significance	-1	RCV003032985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198466	108198466	NC_000011.9:g.108198466T>A	-
NM_000051.4(ATM):c.7071G>T (p.Met2357Ile)	472	ATM	Uncertain significance	753951063	RCV000772700\|RCV000817341;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198467	108198467	NC_000011.9:g.108198467G>T	-
NM_000051.4(ATM):c.7071G>A (p.Met2357Ile)	472	ATM	Uncertain significance	753951063	RCV001026004\|RCV001832363\|RCV003461412;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198467	108198467	11:g.108198467G>A	-
NM_000051.4(ATM):c.7072C>T (p.Gln2358Ter)	472	ATM	Pathogenic	-1	RCV002365105\|RCV003098465;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198468	108198468	108198468	-
NC_000011.9:g.(?_108198469)_(108225601_?)dup	472	ATM	Likely pathogenic	-1	RCV000708135;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198469	108225601		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7074G>T (p.Gln2358His)	472	ATM	Uncertain significance	1060501593	RCV000461135\|RCV001026007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198470	108198470	NC_000011.9:g.108198470G>T	ClinGen:CA16613426	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7075A>T (p.Thr2359Ser)	472	ATM	Uncertain significance	2136378938	RCV001999446;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198471	108198471	108198471	-
NM_000051.4(ATM):c.7076C>T (p.Thr2359Ile)	472	ATM	Uncertain significance	730881314	RCV000159646\|RCV002516424;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198472	108198472	NC_000011.9:g.108198472C>T	ClinGen:CA298043	CN169374 not specified;
NM_000051.4(ATM):c.7076C>A (p.Thr2359Asn)	472	ATM	Uncertain significance	730881314	RCV000698510\|RCV001026008\|RCV003465605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198472	108198472	NC_000011.9:g.108198472C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7077_7078dup (p.Tyr2360fs)	472	ATM	Pathogenic	2136379109	RCV001944888\|RCV002361131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198472	108198473	108198472	-
NM_000051.4(ATM):c.7077C>T (p.Thr2359=)	472	ATM	Likely benign	1555121132	RCV000553790;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198473	108198473		ClinGen:CA476676517	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7078T>C (p.Tyr2360His)	472	ATM	Uncertain significance	587779860	RCV000115241\|RCV000565258\|RCV001039664;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198474	108198474	NC_000011.9:g.108198474T>C	ClinGen:CA286963	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7079A>G (p.Tyr2360Cys)	472	ATM	Uncertain significance	1555121141	RCV000567771\|RCV001858174;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198475	108198475	NC_000011.9:g.108198475A>G	ClinGen:CA382559156	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7080T>G (p.Tyr2360Ter)	472	ATM	Pathogenic	1555121147	RCV000628115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198476	108198476	11:g.108198476T>G	ClinGen:CA382559168	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7081C>A (p.Leu2361Ile)	472	ATM	Uncertain significance	1412288141	RCV000563965\|RCV000822712\|RCV003465221;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198477	108198477	NC_000011.9:g.108198477C>A	ClinGen:CA382559172	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7081C>T (p.Leu2361=)	472	ATM	Likely benign	1412288141	RCV001455130;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198477	108198477		-
NM_000051.4(ATM):c.7081C>G (p.Leu2361Val)	472	ATM	Uncertain significance	1412288141	RCV001065045;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198477	108198477	11:g.108198477C>G	-
NM_000051.4(ATM):c.7082T>C (p.Leu2361Pro)	472	ATM	Uncertain significance	1169558907	RCV001068349\|RCV002365772\|RCV003230632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108198478	108198478	11:g.108198478T>C	-
NM_000051.4(ATM):c.7088del (p.Lys2363fs)	472	ATM	Pathogenic	876658512	RCV000216898\|RCV000223734;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198481	108198481	11:g.108198481_108198481del	ClinGen:CA10579250	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7085A>G (p.Glu2362Gly)	472	ATM	Uncertain significance	1479883295	RCV002040971;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198481	108198481	108198481	-
NM_000051.4(ATM):c.7088A>T (p.Lys2363Met)	472	ATM	Uncertain significance	757293178	RCV000580979\|RCV001308636;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198484	108198484	11:g.108198484A>T	ClinGen:CA6266056	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7089+1G>A	472	ATM	Likely pathogenic	777741666	RCV000571077\|RCV001210847;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198486	108198486	NC_000011.9:g.108198486G>A	ClinGen:CA228414402	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7089+1G>C	472	ATM	Likely pathogenic	777741666	RCV002008263;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198486	108198486	108198486	-
NM_000051.4(ATM):c.7089+2T>G	472	ATM	Likely pathogenic	1057516235	RCV000412080\|RCV001810873\|RCV002365445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198487	108198487	NC_000011.9:g.108198487T>G	ClinGen:CA16041425	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7089+3A>G	472	ATM	Uncertain significance	1565524203	RCV000703114\|RCV001183564;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198488	108198488	NC_000011.9:g.108198488A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7089+4A>C	472	ATM	Uncertain significance	2136380076	RCV001889507\|RCV002361174;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108198489	108198489	108198489	-
NM_000051.4(ATM):c.7089+5G>A	472	ATM	Conflicting interpretations of pathogenicity	1351209504	RCV000583544\|RCV002529195;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198490	108198490	11:g.108198490G>A	ClinGen:CA658683745	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7089+16C>A	472	ATM	Likely benign	-1	RCV003050263;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198501	108198501	NC_000011.9:g.108198501C>A	-
NM_000051.4(ATM):c.7089+20C>T	472	ATM	Benign/Likely benign	730881275	RCV000159593\|RCV001192152\|RCV001463917;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108198505	108198505	NC_000011.9:g.108198505C>T	ClinGen:CA297965	CN169374 not specified;
NM_000051.4(ATM):c.7090-19T>G	472	ATM	Likely benign	2136408437	RCV002167334;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199729	108199729	108199729	-
NM_000051.4(ATM):c.7090-18G>T	472	ATM	Likely benign	-1	RCV002663017;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199730	108199730	NC_000011.9:g.108199730G>T	-
NM_000051.4(ATM):c.7090-17G>T	472	ATM	Likely benign	1555121895	RCV000584603\|RCV002530780;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199731	108199731	NC_000011.9:g.108199731G>T	ClinGen:CA658683746	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7090-17G>C	472	ATM	Likely benign	1555121895	RCV001178444\|RCV002068221;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199731	108199731	11:g.108199731G>C	-
NM_000051.4(ATM):c.7090-17G>A	472	ATM	Likely benign	-1	RCV003091468;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199731	108199731	NC_000011.9:g.108199731G>A	-
NM_000051.4(ATM):c.7090-14G>A	472	ATM	Conflicting interpretations of pathogenicity	1486032156	RCV000610451\|RCV001181867\|RCV002065238;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199734	108199734	11:g.108199734G>A	ClinGen:CA658797766	CN169374 not specified;
NM_000051.4(ATM):c.7090-14G>T	472	ATM	Likely benign	1486032156	RCV000602982\|RCV002060623;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199734	108199734	11:g.108199734G>T	ClinGen:CA602132799	CN169374 not specified;
NM_000051.4(ATM):c.7090-8del	472	ATM	Benign	2136409048	RCV002082903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199737	108199737	108199736	-
NM_000051.4(ATM):c.7090-9T>C	472	ATM	Likely benign	2136409178	RCV001456608;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199739	108199739	108199739	-
NM_000051.4(ATM):c.7090-6T>C	472	ATM	Likely benign	2085972331	RCV001410619;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199742	108199742	108199742	-
NM_000051.4(ATM):c.7090-6_7090-5del	472	ATM	Uncertain significance	2136409409	RCV001866444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199742	108199743	108199741	-
NM_000051.4(ATM):c.7090G>C (p.Ala2364Pro)	472	ATM	Uncertain significance	759439613	RCV000478252\|RCV001026026\|RCV001204431;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199748	108199748	11:g.108199748G>C	ClinGen:CA6266068	CN169374 not specified;
NM_000051.4(ATM):c.7091del (p.Ala2364fs)	472	ATM	Pathogenic	878853538	RCV000229302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199749	108199749	11:g.108199749_108199749del	ClinGen:CA10582846	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7091C>T (p.Ala2364Val)	472	ATM	Uncertain significance	1555121919	RCV000569192\|RCV000820773;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199749	108199749	NC_000011.9:g.108199749C>T	ClinGen:CA382559380	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7092A>G (p.Ala2364=)	472	ATM	Conflicting interpretations of pathogenicity	1591150359	RCV001026027\|RCV001449380;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199750	108199750		-
NM_000051.4(ATM):c.7093G>A (p.Val2365Ile)	472	ATM	Uncertain significance	1591150377	RCV000801684;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199751	108199751	11:g.108199751G>A	-
NM_000051.4(ATM):c.7094T>A (p.Val2365Glu)	472	ATM	Uncertain significance	2136410055	RCV002005916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199752	108199752	108199752	-
NM_000051.4(ATM):c.7096G>T (p.Glu2366Ter)	472	ATM	Pathogenic/Likely pathogenic	587781672	RCV000129830\|RCV000169152\|RCV002467440\|RCV003128614;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108199754	108199754	11:g.108199754G>T	ClinGen:CA165161	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7096G>A (p.Glu2366Lys)	472	ATM	Uncertain significance	587781672	RCV000627932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199754	108199754	11:g.108199754G>A	ClinGen:CA382559387	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7096G>C (p.Glu2366Gln)	472	ATM	Uncertain significance	-1	RCV002367303\|RCV003098470;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199754	108199754	108199754	-
NM_000051.4(ATM):c.7099G>A (p.Val2367Ile)	472	ATM	Uncertain significance	1060501647	RCV000463277\|RCV000771628;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199757	108199757	NC_000011.9:g.108199757G>A	ClinGen:CA16613120	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7099G>C (p.Val2367Leu)	472	ATM	Uncertain significance	1060501647	RCV000574066\|RCV001217694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199757	108199757	NC_000011.9:g.108199757G>C	ClinGen:CA382559394	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7100T>C (p.Val2367Ala)	472	ATM	Uncertain significance	-1	RCV002367373\|RCV003098474;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199758	108199758	108199758	-
NM_000051.4(ATM):c.7103C>G (p.Ala2368Gly)	472	ATM	Uncertain significance	1591150471	RCV001957379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199761	108199761	108199761	-
NM_000051.4(ATM):c.7106G>A (p.Gly2369Glu)	472	ATM	Uncertain significance	2085974792	RCV001044071\|RCV001186149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199764	108199764	11:g.108199764G>A	-
NM_000051.4(ATM):c.7107A>G (p.Gly2369=)	472	ATM	Likely benign	1057523056	RCV001399977;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199765	108199765		-
NM_000051.4(ATM):c.7108A>G (p.Asn2370Asp)	472	ATM	Uncertain significance	767494363	RCV000588629\|RCV000689779\|RCV002365229;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199766	108199766	NC_000011.9:g.108199766A>G	ClinGen:CA6266069	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7110T>C (p.Asn2370=)	472	ATM	Likely benign	752476328	RCV001421817\|RCV002368321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199768	108199768		-
NM_000051.4(ATM):c.7111T>G (p.Tyr2371Asp)	472	ATM	Uncertain significance	1555121956	RCV000582461\|RCV000696054;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199769	108199769	NC_000011.9:g.108199769T>G	ClinGen:CA382559419	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7112A>T (p.Tyr2371Phe)	472	ATM	Uncertain significance	1565526394	RCV000775868\|RCV001347476;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199770	108199770	NC_000011.9:g.108199770A>T	-
NM_000051.4(ATM):c.7112A>G (p.Tyr2371Cys)	472	ATM	Uncertain significance	1565526394	RCV001216916\|RCV003294044;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199770	108199770	11:g.108199770A>G	-
NM_000051.4(ATM):c.7113T>C (p.Tyr2371=)	472	ATM	Likely benign	760534895	RCV000628249\|RCV001026055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199771	108199771		ClinGen:CA6266071	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7113T>G (p.Tyr2371Ter)	472	ATM	Pathogenic	760534895	RCV001381987;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199771	108199771	108199771	-
NM_000051.4(ATM):c.7113T>A (p.Tyr2371Ter)	472	ATM	Pathogenic	-1	RCV002847201;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199771	108199771	NC_000011.9:g.108199771T>A	-
NM_000051.4(ATM):c.7115A>G (p.Asp2372Gly)	472	ATM	Uncertain significance	2085976203	RCV002022243;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199773	108199773	108199773	-
NM_000051.4(ATM):c.7116T>C (p.Asp2372=)	472	ATM	Benign/Likely benign	3218675	RCV000167261\|RCV000232936\|RCV001328350\|RCV001711450\|RCV001798600;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MedGen:CN221562	11	108199774	108199774		ClinGen:CA197873	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7121A>C (p.Glu2374Ala)	472	ATM	Uncertain significance	587782225	RCV000130916\|RCV000698695\|RCV002492507;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199779	108199779	11:g.108199779A>C	ClinGen:CA167374	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7122A>C (p.Glu2374Asp)	472	ATM	Uncertain significance	376159946	RCV000159647\|RCV000212058\|RCV000472815\|RCV001731406;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108199780	108199780	NC_000011.9:g.108199780A>C	ClinGen:CA298046	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7122A>T (p.Glu2374Asp)	472	ATM	Uncertain significance	376159946	RCV001905624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199780	108199780	108199780	-
NM_000051.4(ATM):c.7123AGT[1] (p.Ser2376del)	472	ATM	Uncertain significance	1555121978	RCV000667561;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199781	108199783	11:g.108199781_108199783del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7123A>G (p.Ser2375Gly)	472	ATM	Uncertain significance	2085977071	RCV001299181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199781	108199781	108199781	-
NM_000051.4(ATM):c.7123A>C (p.Ser2375Arg)	472	ATM	Uncertain significance	2085977071	RCV001977320;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199781	108199781	108199781	-
NM_000051.4(ATM):c.7124G>A (p.Ser2375Asn)	472	ATM	Uncertain significance	1297882250	RCV001223220\|RCV003163738;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199782	108199782	11:g.108199782G>A	-
NM_000051.4(ATM):c.7125T>C (p.Ser2375=)	472	ATM	Likely benign	878853539	RCV001442557\|RCV002365169;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199783	108199783		ClinGen:CA10582847
NM_000051.4(ATM):c.7125del (p.Ser2375fs)	472	ATM	Pathogenic	2136412237	RCV001387466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199783	108199783	108199782	-
NM_000051.4(ATM):c.7128T>C (p.Ser2376=)	472	ATM	Likely benign	2136412428	RCV002086539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199786	108199786		-
NM_000051.4(ATM):c.7129G>T (p.Asp2377Tyr)	472	ATM	Uncertain significance	1555122008	RCV000529807;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199787	108199787	11:g.108199787G>T	ClinGen:CA382559463	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7131T>C (p.Asp2377=)	472	ATM	Likely benign	373309822	RCV000166158\|RCV000545420\|RCV001704213;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108199789	108199789		ClinGen:CA195136	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7134G>A (p.Glu2378=)	472	ATM	Likely benign	376185463	RCV001190943\|RCV002069139;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199792	108199792		-
NM_000051.4(ATM):c.7135C>G (p.Leu2379Val)	472	ATM	Conflicting interpretations of pathogenicity	778888033	RCV000166076\|RCV000236581\|RCV000463701\|RCV001257490\|RCV002509268;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374	11	108199793	108199793	11:g.108199793C>G	ClinGen:CA194928	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7142dup (p.Asn2381fs)	472	ATM	Pathogenic	2136413158	RCV001937401;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199797	108199798	108199797	-
NM_000051.4(ATM):c.7140A>G (p.Arg2380=)	472	ATM	Likely benign	750569023	RCV000233397\|RCV000428666\|RCV000575756\|RCV002225525;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108199798	108199798		ClinGen:CA6266073	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7141_7151del (p.Asn2381fs)	472	ATM	Pathogenic/Likely pathogenic	1555122030	RCV000671763\|RCV001525294\|RCV001798957;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562	11	108199799	108199809	11:g.108199799_108199809del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7145G>C (p.Gly2382Ala)	472	ATM	Uncertain significance	1060501639	RCV000460197\|RCV000478097\|RCV002258906;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199803	108199803	NC_000011.9:g.108199803G>C	ClinGen:CA16613488	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7150dup (p.Met2384fs)	472	ATM	Pathogenic	-1	RCV002898777;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199803	108199804	NC_000011.9:g.108199808dup	-
NM_000051.4(ATM):c.7151T>C (p.Met2384Thr)	472	ATM	Uncertain significance	1215010771	RCV001180959\|RCV001876010\|RCV003469298;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199809	108199809	11:g.108199809T>C	-
NM_000051.4(ATM):c.7155G>A (p.Lys2385=)	472	ATM	Likely benign	878853540	RCV000227455\|RCV002365170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199813	108199813		ClinGen:CA10582848	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7156G>C (p.Ala2386Pro)	472	ATM	Uncertain significance	876659392	RCV000220079\|RCV000477984\|RCV000557855\|RCV003469041;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199814	108199814	11:g.108199814G>C	ClinGen:CA10579251	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7157C>A (p.Ala2386Glu)	472	ATM	Uncertain significance	786203697	RCV000167115\|RCV000487239\|RCV000627922;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199815	108199815	11:g.108199815C>A	ClinGen:CA197532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7157C>G (p.Ala2386Gly)	472	ATM	Uncertain significance	786203697	RCV000459108;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199815	108199815	NC_000011.9:g.108199815C>G	ClinGen:CA16613198	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7159_7160insAGCC (p.Phe2387Ter)	472	ATM	Pathogenic	1591150887	RCV000794162\|RCV003467338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199817	108199818	11:g.108199817_108199818insAGCC	-
NM_000051.4(ATM):c.7163_7166del (p.Leu2388fs)	472	ATM	Pathogenic/Likely pathogenic	2085980902	RCV001231223\|RCV003462784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199819	108199822	11:g.108199819_108199822del	-
NM_000051.4(ATM):c.7164C>A (p.Leu2388=)	472	ATM	Likely benign	1239532344	RCV000534173\|RCV001026105\|RCV001358756\|RCV001357422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142	11	108199822	108199822		ClinGen:CA476676699	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7164C>T (p.Leu2388=)	472	ATM	Likely benign	1239532344	RCV001026106\|RCV001422285;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199822	108199822		-
NM_000051.4(ATM):c.7166C>G (p.Ser2389Ter)	472	ATM	Pathogenic/Likely pathogenic	1018140779	RCV000411247;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199824	108199824	11:g.108199824C>G	ClinGen:CA16041426	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7166C>T (p.Ser2389Leu)	472	ATM	Uncertain significance	1018140779	RCV000436625\|RCV000580593\|RCV000628084;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199824	108199824	11:g.108199824C>T	ClinGen:CA16606117	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7167A>G (p.Ser2389=)	472	ATM	Likely benign	-1	RCV003066053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199825	108199825		-
NM_000051.4(ATM):c.7171G>A (p.Ala2391Thr)	472	ATM	Uncertain significance	2136415110	RCV002042535\|RCV002370688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199829	108199829	108199829	-
NM_000051.4(ATM):c.7172C>T (p.Ala2391Val)	472	ATM	Uncertain significance	2085981550	RCV001056850;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199830	108199830	11:g.108199830C>T	-
NM_000051.4(ATM):c.7174C>T (p.Arg2392Trp)	472	ATM	Uncertain significance	149827260	RCV000166522\|RCV000168469\|RCV000590313\|RCV000855629\|RCV001356845\|RCV003468786;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108199832	108199832	11:g.108199832C>T	ClinGen:CA196089	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7175G>A (p.Arg2392Gln)	472	ATM	Uncertain significance	876659083	RCV000218804\|RCV002518301;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199833	108199833	11:g.108199833G>A	ClinGen:CA10579252	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7175G>T (p.Arg2392Leu)	472	ATM	Uncertain significance	876659083	RCV000793895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199833	108199833	11:g.108199833G>T	-
NM_000051.4(ATM):c.7175G>C (p.Arg2392Pro)	472	ATM	Uncertain significance	876659083	RCV001054774\|RCV002374924;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199833	108199833	11:g.108199833G>C	-
NM_000051.4(ATM):c.7177T>C (p.Phe2393Leu)	472	ATM	Uncertain significance	-1	RCV002300446;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199835	108199835	108199835	-
NM_000051.4(ATM):c.7178T>G (p.Phe2393Cys)	472	ATM	Uncertain significance	1555122073	RCV000628151;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199836	108199836	11:g.108199836T>G	ClinGen:CA382559568	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7178T>C (p.Phe2393Ser)	472	ATM	Uncertain significance	-1	RCV002304695;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199836	108199836	108199836	-
NM_000051.4(ATM):c.7179T>C (p.Phe2393=)	472	ATM	Likely benign	1057520430	RCV000434128\|RCV001503951;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199837	108199837		ClinGen:CA16606118	CN169374 not specified;
NM_000051.4(ATM):c.7179T>G (p.Phe2393Leu)	472	ATM	Uncertain significance	1057520430	RCV000467835;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199837	108199837	NC_000011.9:g.108199837T>G	ClinGen:CA16613200	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7179T>A (p.Phe2393Leu)	472	ATM	Uncertain significance	1057520430	RCV001321877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199837	108199837	108199837	-
NM_000051.4(ATM):c.7181C>T (p.Ser2394Leu)	472	ATM	Likely pathogenic	587779861	RCV000115242\|RCV000494662\|RCV000534806\|RCV001171474\|RCV002483185\|RCV003467031;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108199839	108199839	NC_000011.9:g.108199839C>T	ClinGen:CA286966	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7182A>G (p.Ser2394=)	472	ATM	Likely benign	976994998	RCV001499923\|RCV002377874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199840	108199840		-
NM_000051.4(ATM):c.7182A>T (p.Ser2394=)	472	ATM	Likely benign	976994998	RCV001494985\|RCV001525701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199840	108199840		-
NM_000051.4(ATM):c.7182A>C (p.Ser2394=)	472	ATM	Likely benign	976994998	RCV002086011\|RCV003161459;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199840	108199840		-
NM_000051.4(ATM):c.7183G>A (p.Asp2395Asn)	472	ATM	Uncertain significance	2085983049	RCV001230504;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199841	108199841	11:g.108199841G>A	-
NM_000051.4(ATM):c.7184A>T (p.Asp2395Val)	472	ATM	Uncertain significance	1555122090	RCV000571230\|RCV000764941\|RCV000802048\|RCV001764679;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Me	11	108199842	108199842	11:g.108199842A>T	ClinGen:CA382559579	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7184A>G (p.Asp2395Gly)	472	ATM	Uncertain significance	1555122090	RCV001220951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199842	108199842	11:g.108199842A>G	-
NM_000051.4(ATM):c.7186del (p.Thr2396fs)	472	ATM	Pathogenic	1555122092	RCV000628172;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199844	108199844	NC_000011.9:g.108199844del	ClinGen:CA658797767	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser)	472	ATM	Conflicting interpretations of pathogenicity	370559102	RCV000115243\|RCV000198387\|RCV000487700\|RCV000855569\|RCV001798324\|RCV002291558;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199845	108199845	NC_000011.9:g.108199845C>G	ClinGen:CA286969,UniProtKB:Q13315#VAR_010850	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7189C>T (p.Gln2397Ter)	472	ATM	Pathogenic	747372355	RCV000219784\|RCV000808849;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199847	108199847	11:g.108199847C>T	ClinGen:CA10579253	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7189C>G (p.Gln2397Glu)	472	ATM	Uncertain significance	747372355	RCV000583472\|RCV000806166;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199847	108199847	NC_000011.9:g.108199847C>G	ClinGen:CA6266074	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7190A>G (p.Gln2397Arg)	472	ATM	Uncertain significance	1060501592	RCV000457228\|RCV002374771;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199848	108199848	NC_000011.9:g.108199848A>G	ClinGen:CA16613202	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7190A>C (p.Gln2397Pro)	472	ATM	Uncertain significance	1060501592	RCV001039559;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199848	108199848	11:g.108199848A>C	-
NM_000051.4(ATM):c.7190A>T (p.Gln2397Leu)	472	ATM	Uncertain significance	1060501592	RCV002030359;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199848	108199848	108199848	-
NM_000051.4(ATM):c.7191A>G (p.Gln2397=)	472	ATM	Likely benign	768906734	RCV000217182\|RCV000613556\|RCV000946384\|RCV001358568;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108199849	108199849		ClinGen:CA6266075	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7193A>G (p.Tyr2398Cys)	472	ATM	Uncertain significance	1591151173	RCV001026134\|RCV001060542;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199851	108199851	11:g.108199851A>G	-
NM_000051.4(ATM):c.7194C>A (p.Tyr2398Ter)	472	ATM	Pathogenic	1591151199	RCV000797157;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199852	108199852	11:g.108199852C>A	-
NM_000051.4(ATM):c.7195C>A (p.Gln2399Lys)	472	ATM	Uncertain significance	2085985186	RCV001052325\|RCV002374912;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199853	108199853	11:g.108199853C>A	-
NM_000051.4(ATM):c.7195C>G (p.Gln2399Glu)	472	ATM	Uncertain significance	2085985186	RCV001820633\|RCV001869732\|RCV003355552;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199853	108199853	108199853	-
NM_000051.4(ATM):c.7195C>T (p.Gln2399Ter)	472	ATM	Pathogenic	2085985186	RCV001929693\|RCV003332363;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108199853	108199853	108199853	-
NM_000051.4(ATM):c.7196A>G (p.Gln2399Arg)	472	ATM	Uncertain significance	1565526758	RCV000694831\|RCV002369877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199854	108199854	NC_000011.9:g.108199854A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7198A>C (p.Arg2400=)	472	ATM	Likely benign	777423778	RCV000528124\|RCV001026137;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199856	108199856		ClinGen:CA6266076	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7199G>T (p.Arg2400Ile)	472	ATM	Uncertain significance	567457294	RCV000562244\|RCV001207248;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199857	108199857	NC_000011.9:g.108199857G>T	ClinGen:CA382559612	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7200A>G (p.Arg2400=)	472	ATM	Conflicting interpretations of pathogenicity	1060501534	RCV000468371\|RCV003320466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108199858	108199858		ClinGen:CA16613489
NM_000051.4(ATM):c.7201A>G (p.Ile2401Val)	472	ATM	Uncertain significance	1565526813	RCV000689182\|RCV003465567;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199859	108199859	NC_000011.9:g.108199859A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7202T>C (p.Ile2401Thr)	472	ATM	Uncertain significance	1555122117	RCV000549388\|RCV000777216\|RCV003470681;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199860	108199860	NC_000011.9:g.108199860T>C	ClinGen:CA382559618	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7203del (p.Ile2401fs)	472	ATM	Pathogenic/Likely pathogenic	2136417490	RCV002479492\|RCV001982166;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199860	108199860	108199859	-
NM_000051.4(ATM):c.7204G>T (p.Glu2402Ter)	472	ATM	Pathogenic	2085987831	RCV001227216;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199862	108199862	11:g.108199862G>T	-
NM_000051.4(ATM):c.7204G>C (p.Glu2402Gln)	472	ATM	Uncertain significance	-1	RCV002947926;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199862	108199862	NC_000011.9:g.108199862G>C	-
NM_000051.4(ATM):c.7209C>T (p.Asn2403=)	472	ATM	Likely benign	373662499	RCV000231325\|RCV000568609\|RCV001711786;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108199867	108199867		ClinGen:CA6266079	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7211A>G (p.Tyr2404Cys)	472	ATM	Uncertain significance	1064794093	RCV000482617\|RCV000798283\|RCV002374892;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199869	108199869	11:g.108199869A>G	ClinGen:CA16619228	CN169374 not specified;
NM_000051.4(ATM):c.7213A>G (p.Met2405Val)	472	ATM	Uncertain significance	587781323	RCV000129064\|RCV000700008\|RCV003460884;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199871	108199871	11:g.108199871A>G	ClinGen:CA163750	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7213A>C (p.Met2405Leu)	472	ATM	Uncertain significance	587781323	RCV000806350\|RCV002370144;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199871	108199871	11:g.108199871A>C	-
NM_000051.4(ATM):c.7213A>T (p.Met2405Leu)	472	ATM	Uncertain significance	587781323	RCV002045945;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199871	108199871	108199871	-
NM_000051.4(ATM):c.7214T>C (p.Met2405Thr)	472	ATM	Uncertain significance	745440761	RCV001215058\|RCV003373044;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199872	108199872	11:g.108199872T>C	-
NM_000051.4(ATM):c.7218A>G (p.Lys2406=)	472	ATM	Likely benign	1321705346	RCV000776804\|RCV001461808;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199876	108199876		-
NM_000051.4(ATM):c.7219T>C (p.Ser2407Pro)	472	ATM	Conflicting interpretations of pathogenicity	1565526951	RCV000773607\|RCV001067484;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199877	108199877	NC_000011.9:g.108199877T>C	-
NM_000051.4(ATM):c.7220C>A (p.Ser2407Ter)	472	ATM	Pathogenic	1555122149	RCV000627953\|RCV001185806\|RCV003465370;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199878	108199878	11:g.108199878C>A	ClinGen:CA382559660	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7221A>G (p.Ser2407=)	472	ATM	Likely benign	786201881	RCV000164387\|RCV000427372\|RCV000525660;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199879	108199879		ClinGen:CA190827	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7221A>T (p.Ser2407=)	472	ATM	Likely benign	786201881	RCV000581332\|RCV002061682;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199879	108199879		ClinGen:CA476676730	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7221A>C (p.Ser2407=)	472	ATM	Likely benign	786201881	RCV001447926;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199879	108199879		-
NM_000051.4(ATM):c.7222T>A (p.Ser2408Thr)	472	ATM	Uncertain significance	-1	RCV003054313;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199880	108199880	NC_000011.9:g.108199880T>A	-
NM_000051.4(ATM):c.7223C>T (p.Ser2408Leu)	472	ATM	Uncertain significance	730881315	RCV000159648\|RCV000215742\|RCV000382704\|RCV002465538\|RCV003407593;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|	11	108199881	108199881	NC_000011.9:g.108199881C>T	ClinGen:CA298049,UniProtKB:Q13315#VAR_041576	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7223C>G (p.Ser2408Trp)	472	ATM	Uncertain significance	730881315	RCV001040532\|RCV002249642;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108199881	108199881	11:g.108199881C>G	-
NM_000051.4(ATM):c.7224G>A (p.Ser2408=)	472	ATM	Benign/Likely benign	145747513	RCV000218579\|RCV000444735\|RCV000710680\|RCV001084494;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199882	108199882		ClinGen:CA338355	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7229T>C (p.Phe2410Ser)	472	ATM	Uncertain significance	758351633	RCV000542663\|RCV000771931\|RCV003470682;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199887	108199887	11:g.108199887T>C	ClinGen:CA6266083	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7229T>A (p.Phe2410Tyr)	472	ATM	Uncertain significance	758351633	RCV000627931\|RCV000779767\|RCV002377336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199887	108199887	NC_000011.9:g.108199887T>A	ClinGen:CA382559678	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7230T>G (p.Phe2410Leu)	472	ATM	Uncertain significance	1565527030	RCV000700423\|RCV003163250;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199888	108199888	11:g.108199888T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7234A>G (p.Asn2412Asp)	472	ATM	Uncertain significance	2085991994	RCV001315913\|RCV002246296\|RCV002375403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199892	108199892	108199892	-
NM_000051.4(ATM):c.7235A>G (p.Asn2412Ser)	472	ATM	Conflicting interpretations of pathogenicity	786203311	RCV000166564\|RCV000205986\|RCV000235284\|RCV000764942\|RCV001358721\|RCV003468787;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108199893	108199893	11:g.108199893A>G	ClinGen:CA196193	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7235A>C (p.Asn2412Thr)	472	ATM	Uncertain significance	786203311	RCV000472533\|RCV000483115\|RCV000580726\|RCV003392280;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	11	108199893	108199893	NC_000011.9:g.108199893A>C	ClinGen:CA16613204	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7241_7244del (p.Gln2414fs)	472	ATM	Pathogenic/Likely pathogenic	1591151678	RCV000991443\|RCV001210325;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199894	108199897	11:g.108199894_108199897del	-
NM_000051.4(ATM):c.7239G>A (p.Lys2413=)	472	ATM	Likely benign	1555122182	RCV000554841\|RCV000777236;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199897	108199897		ClinGen:CA476676737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7240C>T (p.Gln2414Ter)	472	ATM	Pathogenic	863224462	RCV000200187\|RCV000492913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199898	108199898	11:g.108199898C>T	ClinGen:CA339145	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7240C>A (p.Gln2414Lys)	472	ATM	Uncertain significance	863224462	RCV000236245\|RCV000568134\|RCV001854871\|RCV003323475;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108199898	108199898	NC_000011.9:g.108199898C>A	ClinGen:CA10584364	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7242A>T (p.Gln2414His)	472	ATM	Uncertain significance	761907546	RCV002008329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199900	108199900	108199900	-
NM_000051.4(ATM):c.7242A>G (p.Gln2414=)	472	ATM	Likely benign	761907546	RCV002167512;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199900	108199900		-
NM_000051.4(ATM):c.7244C>G (p.Ala2415Gly)	472	ATM	Uncertain significance	370567994	RCV000232990\|RCV000236598\|RCV000575499\|RCV001194269\|RCV003469129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199902	108199902	NC_000011.9:g.108199902C>G	ClinGen:CA6266085	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7244C>T (p.Ala2415Val)	472	ATM	Uncertain significance	370567994	RCV000773575\|RCV001370857;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199902	108199902	NC_000011.9:g.108199902C>T	-
NM_000051.4(ATM):c.7247_7248del (p.Leu2416fs)	472	ATM	Pathogenic	-1	RCV002371084\|RCV003098517;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199902	108199903	108199901	-
NM_000051.4(ATM):c.7246C>T (p.Leu2416Phe)	472	ATM	Uncertain significance	1060501615	RCV000472599;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199904	108199904	NC_000011.9:g.108199904C>T	ClinGen:CA16613121	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7248C>T (p.Leu2416=)	472	ATM	Likely benign	750513866	RCV000165048\|RCV000439099\|RCV000988722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199906	108199906		ClinGen:CA192390	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7249del (p.Leu2416_Leu2417insTer)	472	ATM	Pathogenic	-1	RCV002856672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199906	108199906	NC_000011.9:g.108199907del	-
NM_000051.4(ATM):c.7250T>C (p.Leu2417Pro)	472	ATM	Uncertain significance	1591151788	RCV001026202\|RCV001862360;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199908	108199908	11:g.108199908T>C	-
NM_000051.4(ATM):c.7251G>A (p.Leu2417=)	472	ATM	Likely benign	2136420487	RCV001571289\|RCV002568460;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199909	108199909		-
NM_000051.4(ATM):c.7253A>C (p.Lys2418Thr)	472	ATM	Uncertain significance	1565527146	RCV000779761\|RCV002536860;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199911	108199911	NC_000011.9:g.108199911A>C	-
NM_000051.4(ATM):c.7257A>G (p.Arg2419=)	472	ATM	Likely benign	1591151857	RCV001436338\|RCV002372552;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199915	108199915		-
NM_000051.4(ATM):c.7261A>G (p.Lys2421Glu)	472	ATM	Uncertain significance	1555122220	RCV000571487\|RCV001041538;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199919	108199919	11:g.108199919A>G	ClinGen:CA382559745	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7261_7262insT (p.Lys2421fs)	472	ATM	Pathogenic	1591151905	RCV000807621;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199919	108199920	11:g.108199919_108199920insT	-
NM_000051.4(ATM):c.7262A>C (p.Lys2421Thr)	472	ATM	Uncertain significance	1360453074	RCV000539016;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199920	108199920	NC_000011.9:g.108199920A>C	ClinGen:CA382559749	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7262A>T (p.Lys2421Ile)	472	ATM	Uncertain significance	1360453074	RCV000802340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199920	108199920	11:g.108199920A>T	-
NM_000051.4(ATM):c.7262A>G (p.Lys2421Arg)	472	ATM	Uncertain significance	1360453074	RCV002021718\|RCV002386929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199920	108199920	108199920	-
NM_000051.4(ATM):c.7263A>G (p.Lys2421=)	472	ATM	Likely benign	1555122232	RCV000565920\|RCV002060543;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199921	108199921		ClinGen:CA476676756	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7264G>A (p.Glu2422Lys)	472	ATM	Uncertain significance	1163371592	RCV000574601\|RCV000691287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199922	108199922	NC_000011.9:g.108199922G>A	ClinGen:CA382559752	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7265A>G (p.Glu2422Gly)	472	ATM	Uncertain significance	758614348	RCV000771932\|RCV000821685\|RCV003465689;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199923	108199923	NC_000011.9:g.108199923A>G	-
NM_000051.4(ATM):c.7266G>A (p.Glu2422=)	472	ATM	Likely benign	876659834	RCV000222412\|RCV000227888\|RCV003390969;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108199924	108199924		ClinGen:CA10579254
NM_000051.4(ATM):c.7267G>A (p.Glu2423Lys)	472	ATM	Uncertain significance	1555122245	RCV000556023\|RCV001026213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199925	108199925	11:g.108199925G>A	ClinGen:CA382559760	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7267_7270delinsTAC (p.Glu2423fs)	472	ATM	Pathogenic	1591152021	RCV000812417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199925	108199928	11:g.108199926_108199928del	-
NM_000051.4(ATM):c.7267G>T (p.Glu2423Ter)	472	ATM	Pathogenic	1555122245	RCV001384929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199925	108199925	108199925	-
NM_000051.4(ATM):c.7269A>T (p.Glu2423Asp)	472	ATM	Uncertain significance	864622471	RCV000205916\|RCV000221401;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199927	108199927	11:g.108199927A>T	ClinGen:CA350014	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7269A>C (p.Glu2423Asp)	472	ATM	Uncertain significance	864622471	RCV001037023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199927	108199927	11:g.108199927A>C	-
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly)	472	ATM	Pathogenic	28904921	RCV000003160\|RCV000003159\|RCV000003161\|RCV000115244\|RCV000168223\|RCV000212060\|RCV000417259\|RCV000515429\|RCV000709707\|RCV003149562;	N	MONDO:MONDO:0019468,MedGen:C2363142, Orphanet:86871\|MONDO:MONDO:0018266,MedGen:C1876175, Orphanet:370109\|MedGen:C3469522\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C	11	108199929	108199929	11:g.108199929T>G	OMIM:607585.0005,ClinGen:CA115930,UniProtKB:Q13315#VAR_010854	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7271T>A (p.Val2424Glu)	472	ATM	Uncertain significance	28904921	RCV001056386;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199929	108199929	11:g.108199929T>A	-
NM_000051.4(ATM):c.7271T>C (p.Val2424Ala)	472	ATM	Uncertain significance	28904921	RCV001065059;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199929	108199929	11:g.108199929T>C	-
NM_000051.4(ATM):c.7274del (p.Gly2425fs)	472	ATM	Pathogenic	1565527283	RCV000689379;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199931	108199931	NC_000011.9:g.108199932del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7274G>T (p.Gly2425Val)	472	ATM	Uncertain significance	148949644	RCV000115245\|RCV001026220\|RCV001345281;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199932	108199932	NC_000011.9:g.108199932G>T	ClinGen:CA286972	CN517202 not provided;
NM_000051.4(ATM):c.7274G>A (p.Gly2425Asp)	472	ATM	Uncertain significance	148949644	RCV001936960;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199932	108199932	108199932	-
NM_000051.4(ATM):c.7276C>T (p.Leu2426Phe)	472	ATM	Uncertain significance	-1	RCV003031770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199934	108199934	NC_000011.9:g.108199934C>T	-
NM_000051.4(ATM):c.7277T>C (p.Leu2426Pro)	472	ATM	Uncertain significance	1591152164	RCV000810350;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199935	108199935	11:g.108199935T>C	-
NM_000051.4(ATM):c.7278C>T (p.Leu2426=)	472	ATM	Likely benign	2136422492	RCV001432921\|RCV002384651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199936	108199936		-
NM_000051.4(ATM):c.7279_7284del (p.Leu2427_Arg2428del)	472	ATM	Pathogenic	796051856	RCV000003156;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199937	108199942	NC_000011.9:g.108199937_108199942del	ClinGen:CA252536,OMIM:607585.0003	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7280T>G (p.Leu2427Arg)	472	ATM	Uncertain significance	1555122272	RCV000580789\|RCV002529086;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199938	108199938	11:g.108199938T>G	ClinGen:CA382559786	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7280T>C (p.Leu2427Pro)	472	ATM	Uncertain significance	1555122272	RCV000583395\|RCV001853903;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199938	108199938	11:g.108199938T>C	ClinGen:CA382559785	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7281T>C (p.Leu2427=)	472	ATM	Likely benign	1239369148	RCV001460096\|RCV003298797;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199939	108199939		-
NM_000051.4(ATM):c.7282A>G (p.Arg2428Gly)	472	ATM	Uncertain significance	1555122281	RCV000692191;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199940	108199940	11:g.108199940A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7283G>A (p.Arg2428Lys)	472	ATM	Uncertain significance	2085999795	RCV001322998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199941	108199941	108199941	-
NM_000051.4(ATM):c.7285del (p.Glu2429fs)	472	ATM	Pathogenic	2136422907	RCV001981906;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199941	108199941	108199940	-
NM_000051.4(ATM):c.7284G>A (p.Arg2428=)	472	ATM	Likely benign	1591152279	RCV001026228\|RCV002069028\|RCV003226418;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108199942	108199942		-
NM_000051.4(ATM):c.7287A>G (p.Glu2429=)	472	ATM	Likely benign	-1	RCV002382660\|RCV003098527;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199945	108199945		-
NM_000051.4(ATM):c.7288C>A (p.His2430Asn)	472	ATM	Uncertain significance	2086000435	RCV001352367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199946	108199946	108199946	-
NM_000051.4(ATM):c.7288C>G (p.His2430Asp)	472	ATM	Uncertain significance	2086000435	RCV001364678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199946	108199946	108199946	-
NM_000051.4(ATM):c.7288C>T (p.His2430Tyr)	472	ATM	Uncertain significance	2086000435	RCV002031867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199946	108199946	108199946	-
NM_000051.4(ATM):c.7288del (p.His2430fs)	472	ATM	Pathogenic	2136423257	RCV002271353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199946	108199946	108199945	-
NM_000051.4(ATM):c.7289A>G (p.His2430Arg)	472	ATM	Conflicting interpretations of pathogenicity	786202856	RCV000165890\|RCV000458599\|RCV001770130\|RCV003153448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	11	108199947	108199947	11:g.108199947A>G	ClinGen:CA194451	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7289A>C (p.His2430Pro)	472	ATM	Uncertain significance	-1	RCV002600097;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199947	108199947	NC_000011.9:g.108199947A>C	-
NM_000051.4(ATM):c.7289A>T (p.His2430Leu)	472	ATM	Uncertain significance	-1	RCV003016757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199947	108199947	NC_000011.9:g.108199947A>T	-
NM_000051.4(ATM):c.7290T>A (p.His2430Gln)	472	ATM	Uncertain significance	876658715	RCV000223499\|RCV002518275;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199948	108199948	11:g.108199948T>A	ClinGen:CA10579255	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7290T>G (p.His2430Gln)	472	ATM	Uncertain significance	876658715	RCV000579670\|RCV001057946;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199948	108199948	11:g.108199948T>G	ClinGen:CA382559807	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7290T>C (p.His2430=)	472	ATM	Likely benign	876658715	RCV000981913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199948	108199948		-
NM_000051.4(ATM):c.7291A>G (p.Lys2431Glu)	472	ATM	Uncertain significance	864622563	RCV000204539\|RCV000523242\|RCV000563930\|RCV003468953;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199949	108199949	11:g.108199949A>G	ClinGen:CA348761	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7293_7294del (p.Lys2431fs)	472	ATM	Pathogenic	1060501525	RCV000469765\|RCV003362791;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199949	108199950	NC_000011.9:g.108199951_108199952del	ClinGen:CA16613490	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7292A>T (p.Lys2431Ile)	472	ATM	Uncertain significance	-1	RCV003028882;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199950	108199950	NC_000011.9:g.108199950A>T	-
NM_000051.4(ATM):c.7294A>T (p.Ile2432Phe)	472	ATM	Conflicting interpretations of pathogenicity	587781838	RCV000130133\|RCV000687430\|RCV003441751;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108199952	108199952	11:g.108199952A>T	ClinGen:CA165771	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7294A>G (p.Ile2432Val)	472	ATM	Uncertain significance	587781838	RCV001026235\|RCV001862361;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199952	108199952	11:g.108199952A>G	-
NM_000051.4(ATM):c.7295T>A (p.Ile2432Asn)	472	ATM	Uncertain significance	2086001580	RCV001216173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199953	108199953	11:g.108199953T>A	-
NM_000051.4(ATM):c.7296del (p.Gln2433fs)	472	ATM	Pathogenic	2136423623	RCV001943103;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199953	108199953	108199952	-
NM_000051.4(ATM):c.7299_7302del (p.Asn2435fs)	472	ATM	Pathogenic/Likely pathogenic	886039628	RCV000254710\|RCV000814921\|RCV003469201;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199955	108199958	NC_000011.9:g.108199957_108199960del	ClinGen:CA10588509	CN517202 not provided;
NM_000051.4(ATM):c.7297del (p.Gln2433fs)	472	ATM	Pathogenic	2136423753	RCV001951211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199955	108199955	108199954	-
NM_000051.4(ATM):c.7298A>T (p.Gln2433Leu)	472	ATM	Uncertain significance	1591152450	RCV001026237\|RCV001060104\|RCV003461416;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199956	108199956	11:g.108199956A>T	-
NM_000051.4(ATM):c.7299G>A (p.Gln2433=)	472	ATM	Likely benign	1057520451	RCV000442946\|RCV000628269\|RCV001026238;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199957	108199957		ClinGen:CA16606207	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7301C>T (p.Thr2434Ile)	472	ATM	Uncertain significance	2136423951	RCV002029635\|RCV002386917;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199959	108199959	108199959	-
NM_000051.4(ATM):c.7302A>G (p.Thr2434=)	472	ATM	Likely benign	752125292	RCV001026247\|RCV002552409;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199960	108199960		-
NM_000051.4(ATM):c.7302A>T (p.Thr2434=)	472	ATM	Likely benign	752125292	RCV001176863\|RCV002068176;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199960	108199960		-
NM_000051.4(ATM):c.7303A>G (p.Asn2435Asp)	472	ATM	Uncertain significance	1555122326	RCV000530652\|RCV003302762;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199961	108199961	11:g.108199961A>G	ClinGen:CA382559836	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7305C>G (p.Asn2435Lys)	472	ATM	Uncertain significance	1160508407	RCV000570628\|RCV000688517;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199963	108199963	NC_000011.9:g.108199963C>G	ClinGen:CA382559842	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7307G>A (p.Arg2436Lys)	472	ATM	Conflicting interpretations of pathogenicity	786203394	RCV000166679\|RCV000230377\|RCV003338435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199965	108199965	11:g.108199965G>A	ClinGen:CA196452	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7307+1G>T	472	ATM	Likely pathogenic	2086003529	RCV001070580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199966	108199966	11:g.108199966G>T	-
NM_000051.4(ATM):c.7307+2dup	472	ATM	Uncertain significance	2086004268	RCV001190050\|RCV001326146;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199966	108199967	11:g.108199966_108199967insT	-
NM_000051.4(ATM):c.7307+1G>A	472	ATM	Pathogenic/Likely pathogenic	2086003529	RCV001377732\|RCV002384543\|RCV003469630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108199966	108199966	108199966	-
NM_000051.4(ATM):c.7307+3_7307+4insGTTC	472	ATM	Conflicting interpretations of pathogenicity	587782288	RCV000131165\|RCV000791576;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199968	108199969	11:g.108199968_108199969insGTTC	ClinGen:CA167693	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7307+3A>C	472	ATM	Uncertain significance	1565527512	RCV000689575;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199968	108199968	NC_000011.9:g.108199968A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7307+4A>G	472	ATM	Conflicting interpretations of pathogenicity	730881316	RCV000159649\|RCV000212061\|RCV001051122;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199969	108199969	NC_000011.9:g.108199969A>G	ClinGen:CA298052	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7307+4A>T	472	ATM	Uncertain significance	730881316	RCV000688544;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199969	108199969	NC_000011.9:g.108199969A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7307+5C>T	472	ATM	Uncertain significance	2086005523	RCV001209371;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199970	108199970	11:g.108199970C>T	-
NM_000051.4(ATM):c.7307+6T>A	472	ATM	Uncertain significance	2136424824	RCV002010769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199971	108199971	108199971	-
NM_000051.4(ATM):c.7307+8G>C	472	ATM	Likely benign	1057523631	RCV000434323\|RCV001444355;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199973	108199973	11:g.108199973G>C	ClinGen:CA16606848	CN169374 not specified;
NM_000051.4(ATM):c.7307+13C>G	472	ATM	Uncertain significance	-1	RCV002820634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199978	108199978	NC_000011.9:g.108199978C>G	-
NM_000051.4(ATM):c.7307+15A>G	472	ATM	Likely benign	-1	RCV003086480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199980	108199980	NC_000011.9:g.108199980A>G	-
NM_000051.4(ATM):c.7307+17A>T	472	ATM	Likely benign	-1	RCV002933772;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199982	108199982	NC_000011.9:g.108199982A>T	-
NM_000051.4(ATM):c.7307+18A>G	472	ATM	Conflicting interpretations of pathogenicity	777909508	RCV000480001\|RCV001865454\|RCV002383922;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108199983	108199983	11:g.108199983A>G	ClinGen:CA16619229	CN169374 not specified;
NM_000051.4(ATM):c.7307+18A>C	472	ATM	Likely benign	777909508	RCV000582750\|RCV000610649\|RCV002061684;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199983	108199983	11:g.108199983A>C	ClinGen:CA228415513	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7307+19G>T	472	ATM	Likely benign	-1	RCV002655039;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108199984	108199984	NC_000011.9:g.108199984G>T	-
NM_000051.4(ATM):c.7308-20_7308-16del	472	ATM	Likely benign	2136449779	RCV002147953;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200918	108200922	108200917	-
NM_000051.4(ATM):c.7308-20C>T	472	ATM	Likely benign	778603753	RCV002104610;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200921	108200921	108200921	-
NM_000051.4(ATM):c.7308-15_7308-12dup	472	ATM	Likely benign	2136450158	RCV002107184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200922	108200923	108200922	-
NM_000051.4(ATM):c.7308-19C>A	472	ATM	Likely benign	2136449985	RCV002210587;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200922	108200922	108200922	-
NM_000051.4(ATM):c.7308-17T>G	472	ATM	Likely benign	-1	RCV002881835;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200924	108200924	NC_000011.9:g.108200924T>G	-
NM_000051.4(ATM):c.7308-15A>G	472	ATM	Uncertain significance	-1	RCV002988515;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200926	108200926	NC_000011.9:g.108200926A>G	-
NM_000051.4(ATM):c.7308-10dup	472	ATM	Likely benign	1555122910	RCV000584209\|RCV002530781;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200929	108200930	11:g.108200929_108200930insT	ClinGen:CA658683747	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7308-10T>C	472	ATM	Conflicting interpretations of pathogenicity	745319720	RCV000456330\|RCV000581610\|RCV000601074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108200931	108200931	NC_000011.9:g.108200931T>C	ClinGen:CA16613427	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7308-10T>G	472	ATM	Conflicting interpretations of pathogenicity	745319720	RCV000476184\|RCV001175646;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200931	108200931	NC_000011.9:g.108200931T>G	ClinGen:CA6266094	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108200931)_(108236235_?)del	472	ATM	Pathogenic	-1	RCV001942274;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200931	108236235	-1	-
NM_000051.4(ATM):c.7308-9C>T	472	ATM	Likely benign	878853541	RCV001470516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200932	108200932	NC_000011.9:g.108200932C>T	ClinGen:CA10582849	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7308-9C>A	472	ATM	Uncertain significance	878853541	RCV002030277;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200932	108200932	108200932	-
NM_000051.4(ATM):c.7308-8T>C	472	ATM	Likely benign	1555122924	RCV000582634\|RCV001436083;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200933	108200933	11:g.108200933T>C	ClinGen:CA658683748	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7308-8T>G	472	ATM	Likely benign	-1	RCV002617027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200933	108200933	NC_000011.9:g.108200933T>G	-
NM_000051.4(ATM):c.7308-6T>C	472	ATM	Uncertain significance	574836628	RCV000463372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200935	108200935	NC_000011.9:g.108200935T>C	ClinGen:CA6266095	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7308-2A>C	472	ATM	Likely pathogenic	1555122938	RCV000543267\|RCV001026250\|RCV003139744;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200939	108200939	NC_000011.9:g.108200939A>C	ClinGen:CA382559855	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7308-2_7308-1delinsTT	472	ATM	Likely pathogenic	2136451316	RCV002013947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200939	108200940	108200939	-
NM_000051.4(ATM):c.7308-1G>C	472	ATM	Likely pathogenic	1555122941	RCV000566704\|RCV001858241\|RCV003465226;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200940	108200940	NC_000011.9:g.108200940G>C	ClinGen:CA382559857	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7308A>C (p.Arg2436Ser)	472	ATM	Uncertain significance	730881317	RCV000159650\|RCV000212062\|RCV000555685;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200941	108200941	NC_000011.9:g.108200941A>C	ClinGen:CA298053	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7309T>C (p.Tyr2437His)	472	ATM	Uncertain significance	1565529213	RCV000702499;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200942	108200942	NC_000011.9:g.108200942T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7313_7314dup (p.Val2439fs)	472	ATM	Pathogenic	1591159614	RCV001026263\|RCV001382900;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200942	108200943	11:g.108200942_108200943insAC	-
NM_000051.4(ATM):c.7309T>A (p.Tyr2437Asn)	472	ATM	Uncertain significance	1565529213	RCV001068295;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200942	108200942	11:g.108200942T>A	-
NM_000051.4(ATM):c.7310A>G (p.Tyr2437Cys)	472	ATM	Uncertain significance	1555122944	RCV000627963\|RCV002385963;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200943	108200943	NC_000011.9:g.108200943A>G	ClinGen:CA382559864	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7311_7314del (p.Arg2436_Tyr2437insTer)	472	ATM	Pathogenic	1591159614	RCV001892430;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200943	108200946	108200942	-
NM_000051.4(ATM):c.7311C>A (p.Tyr2437Ter)	472	ATM	Pathogenic/Likely pathogenic	763470424	RCV000526299\|RCV001026262\|RCV003226319\|RCV003470683;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200944	108200944	11:g.108200944C>A	ClinGen:CA228418043	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7311C>T (p.Tyr2437=)	472	ATM	Likely benign	763470424	RCV000935515\|RCV002382132;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200944	108200944		-
NM_000051.4(ATM):c.7312A>C (p.Thr2438Pro)	472	ATM	Uncertain significance	1565529248	RCV000705470;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200945	108200945	NC_000011.9:g.108200945A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile)	472	ATM	Conflicting interpretations of pathogenicity	147604227	RCV000115246\|RCV000200256\|RCV000515201\|RCV000589408\|RCV001260260\|RCV001354272\|RCV002225326\|RCV003407493;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Me	11	108200946	108200946	NC_000011.9:g.108200946C>T	ClinGen:CA286975,UniProtKB:Q13315#VAR_010856	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7313C>G (p.Thr2438Arg)	472	ATM	Uncertain significance	147604227	RCV000531431;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200946	108200946	11:g.108200946C>G	ClinGen:CA382559871	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7313C>A (p.Thr2438Lys)	472	ATM	Uncertain significance	147604227	RCV001313383\|RCV002384391;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200946	108200946	108200946	-
NM_000051.4(ATM):c.7314A>C (p.Thr2438=)	472	ATM	Conflicting interpretations of pathogenicity	199909913	RCV000472317\|RCV000572014\|RCV001703580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108200947	108200947		ClinGen:CA6266096	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7315G>C (p.Val2439Leu)	472	ATM	Uncertain significance	1591159702	RCV000796757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200948	108200948	11:g.108200948G>C	-
NM_000051.4(ATM):c.7316_7317insTAT (p.Val2439_Lys2440insIle)	472	ATM	Uncertain significance	2086111568	RCV001070581;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200948	108200949	11:g.108200948_108200949insTTA	-
NM_000051.4(ATM):c.7316T>C (p.Val2439Ala)	472	ATM	Uncertain significance	776266049	RCV000164769\|RCV000543915\|RCV000590493\|RCV001328041\|RCV003468722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200949	108200949	11:g.108200949T>C	ClinGen:CA191724	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7316T>G (p.Val2439Gly)	472	ATM	Uncertain significance	776266049	RCV001051259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200949	108200949	11:g.108200949T>G	-
NM_000051.4(ATM):c.7317A>G (p.Val2439=)	472	ATM	Likely benign	878853542	RCV000228059\|RCV000430723\|RCV000562454\|RCV003316240;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200950	108200950		ClinGen:CA10582850
NM_000051.4(ATM):c.7318A>G (p.Lys2440Glu)	472	ATM	Uncertain significance	1565529306	RCV000774818\|RCV001059088;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200951	108200951	NC_000011.9:g.108200951A>G	-
NM_000051.4(ATM):c.7320G>C (p.Lys2440Asn)	472	ATM	Uncertain significance	751537332	RCV001306558\|RCV002384376\|RCV003469532;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200953	108200953	108200953	-
NM_000051.4(ATM):c.7320G>T (p.Lys2440Asn)	472	ATM	Uncertain significance	751537332	RCV001305184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200953	108200953	108200953	-
NM_000051.4(ATM):c.7321G>T (p.Val2441Phe)	472	ATM	Uncertain significance	876659556	RCV000222924\|RCV000556609;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200954	108200954	11:g.108200954G>T	ClinGen:CA10579256	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7322T>C (p.Val2441Ala)	472	ATM	Uncertain significance	765548443	RCV000220462\|RCV001274366;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200955	108200955	11:g.108200955T>C	ClinGen:CA6266099	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7322T>G (p.Val2441Gly)	472	ATM	Uncertain significance	765548443	RCV001877111;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200955	108200955	108200955	-
NM_000051.4(ATM):c.7322T>A (p.Val2441Asp)	472	ATM	Uncertain significance	-1	RCV002299126;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200955	108200955	108200955	-
NM_000051.4(ATM):c.7323_7334del (p.Gln2442_Leu2445del)	472	ATM	Uncertain significance	-1	RCV002810189;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200955	108200966	NC_000011.9:g.108200956_108200967del	-
NM_000051.4(ATM):c.7325_7326insCAACCAACACA (p.Gln2442fs)	472	ATM	Pathogenic	2136452719	RCV001911427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200956	108200957	108200956	-
NM_000051.4(ATM):c.7325A>G (p.Gln2442Arg)	472	ATM	Uncertain significance	1591159790	RCV001183943\|RCV001343318;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200958	108200958	11:g.108200958A>G	-
NM_000051.4(ATM):c.7326G>T (p.Gln2442His)	472	ATM	Uncertain significance	1555122970	RCV000627898\|RCV003465369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200959	108200959	NC_000011.9:g.108200959G>T	ClinGen:CA382559895	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7326G>C (p.Gln2442His)	472	ATM	Uncertain significance	1555122970	RCV001866809;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200959	108200959	108200959	-
NM_000051.4(ATM):c.7327C>T (p.Arg2443Ter)	472	ATM	Pathogenic/Likely pathogenic	121434220	RCV000003175\|RCV000220229\|RCV000484232\|RCV001270953\|RCV001250440\|RCV001391206\|RCV003318492;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0005192,MeSH:C56246	11	108200960	108200960	11:g.108200960C>T	ClinGen:CA325513,OMIM:607585.0019	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7327C>G (p.Arg2443Gly)	472	ATM	Uncertain significance	121434220	RCV000795874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200960	108200960	11:g.108200960C>G	-
NM_000051.4(ATM):c.7328G>A (p.Arg2443Gln)	472	ATM	Conflicting interpretations of pathogenicity	587782310	RCV000131203\|RCV000230833\|RCV000236663\|RCV001563592\|RCV003462010;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200961	108200961	11:g.108200961G>A	ClinGen:CA167770,UniProtKB:Q13315#VAR_041577	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7328G>C (p.Arg2443Pro)	472	ATM	Uncertain significance	587782310	RCV001757999\|RCV002539890;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200961	108200961	108200961	-
NM_000051.4(ATM):c.7328_7331inv (p.Arg2443_Glu2444delinsLeuSer)	472	ATM	Uncertain significance	-1	RCV002000296;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200961	108200964	108200961	-
NM_000051.4(ATM):c.7328G>T (p.Arg2443Leu)	472	ATM	Uncertain significance	587782310	RCV001952926\|RCV003365589;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200961	108200961	108200961	-
NM_000051.4(ATM):c.7330G>A (p.Glu2444Lys)	472	ATM	Uncertain significance	2136453151	RCV002021116\|RCV003355782;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200963	108200963	108200963	-
NM_000051.4(ATM):c.7331A>C (p.Glu2444Ala)	472	ATM	Uncertain significance	879254245	RCV000236763\|RCV001854873;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200964	108200964	NC_000011.9:g.108200964A>C	ClinGen:CA10584365	CN169374 not specified;
NM_000051.4(ATM):c.7331A>G (p.Glu2444Gly)	472	ATM	Uncertain significance	879254245	RCV002011095;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200964	108200964	108200964	-
NM_000051.4(ATM):c.7332G>C (p.Glu2444Asp)	472	ATM	Uncertain significance	876658886	RCV000217221\|RCV000479125\|RCV001232691;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200965	108200965	11:g.108200965G>C	ClinGen:CA10579257	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7333C>T (p.Leu2445=)	472	ATM	Likely benign	763068664	RCV001441073;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200966	108200966		-
NM_000051.4(ATM):c.7334T>C (p.Leu2445Pro)	472	ATM	Uncertain significance	1555122992	RCV000571584\|RCV002528096;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200967	108200967	NC_000011.9:g.108200967T>C	ClinGen:CA382559907	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7334T>A (p.Leu2445Gln)	472	ATM	Uncertain significance	1555122992	RCV000573220\|RCV000627956;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200967	108200967	NC_000011.9:g.108200967T>A	ClinGen:CA382559906	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7335G>A (p.Leu2445=)	472	ATM	Likely benign	2136453475	RCV002207895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200968	108200968		-
NM_000051.4(ATM):c.7336G>A (p.Glu2446Lys)	472	ATM	Uncertain significance	730881318	RCV000159651\|RCV000689661\|RCV001026285;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200969	108200969	NC_000011.9:g.108200969G>A	ClinGen:CA298056	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7336G>T (p.Glu2446Ter)	472	ATM	Pathogenic	-1	RCV002380192\|RCV003098549;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200969	108200969	108200969	-
NM_000051.4(ATM):c.7337A>G (p.Glu2446Gly)	472	ATM	Uncertain significance	1555122998	RCV000568697\|RCV001051712\|RCV003465224;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200970	108200970	NC_000011.9:g.108200970A>G	ClinGen:CA382559913	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7339T>G (p.Leu2447Val)	472	ATM	Uncertain significance	1591159997	RCV000805340\|RCV001026287\|RCV001662835;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108200972	108200972	11:g.108200972T>G	-
NM_000051.4(ATM):c.7339T>C (p.Leu2447=)	472	ATM	Likely benign	1591159997	RCV001402544\|RCV002384583;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200972	108200972		-
NM_000051.4(ATM):c.7340T>C (p.Leu2447Ser)	472	ATM	Uncertain significance	2136453754	RCV002033645;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200973	108200973	108200973	-
NM_000051.4(ATM):c.7341G>T (p.Leu2447Phe)	472	ATM	Uncertain significance	2136453829	RCV002047119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200974	108200974	108200974	-
NM_000051.4(ATM):c.7341G>C (p.Leu2447Phe)	472	ATM	Uncertain significance	2136453829	RCV002035642\|RCV002386871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200974	108200974	108200974	-
NM_000051.4(ATM):c.7342G>A (p.Asp2448Asn)	472	ATM	Uncertain significance	1591160022	RCV001026300\|RCV001349172\|RCV003467689;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200975	108200975	11:g.108200975G>A	-
NM_000051.4(ATM):c.7342G>C (p.Asp2448His)	472	ATM	Uncertain significance	1591160022	RCV001313084;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200975	108200975	108200975	-
NM_000051.4(ATM):c.7343A>G (p.Asp2448Gly)	472	ATM	Uncertain significance	1275267580	RCV001373055\|RCV003298617;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200976	108200976	108200976	-
NM_000051.4(ATM):c.7343A>T (p.Asp2448Val)	472	ATM	Uncertain significance	-1	RCV003020679;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200976	108200976	NC_000011.9:g.108200976A>T	-
NM_000051.4(ATM):c.7345G>C (p.Glu2449Gln)	472	ATM	Uncertain significance	-1	RCV002806854;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200978	108200978	NC_000011.9:g.108200978G>C	-
NM_000051.4(ATM):c.7346A>C (p.Glu2449Ala)	472	ATM	Uncertain significance	1555123004	RCV000545978\|RCV001026301;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200979	108200979	11:g.108200979A>C	ClinGen:CA382559934	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7346A>G (p.Glu2449Gly)	472	ATM	Uncertain significance	1555123004	RCV001296781\|RCV003373099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200979	108200979	108200979	-
NM_000051.4(ATM):c.7347A>G (p.Glu2449=)	472	ATM	Likely benign	2136454257	RCV001468319;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200980	108200980		-
NM_000051.4(ATM):c.7348T>G (p.Leu2450Val)	472	ATM	Uncertain significance	766586514	RCV001246378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200981	108200981	11:g.108200981T>G	-
NM_000051.4(ATM):c.7351G>C (p.Ala2451Pro)	472	ATM	Uncertain significance	587779862	RCV000115247\|RCV000707200\|RCV002381417;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200984	108200984	NC_000011.9:g.108200984G>C	ClinGen:CA286978	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7351G>T (p.Ala2451Ser)	472	ATM	Uncertain significance	587779862	RCV000558378\|RCV002257780;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200984	108200984	11:g.108200984G>T	ClinGen:CA382559946	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7351G>A (p.Ala2451Thr)	472	ATM	Uncertain significance	587779862	RCV001237676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200984	108200984	11:g.108200984G>A	-
NM_000051.4(ATM):c.7352C>T (p.Ala2451Val)	472	ATM	Uncertain significance	2086116043	RCV001990136\|RCV003375488;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200985	108200985	108200985	-
NM_000051.4(ATM):c.7353C>T (p.Ala2451=)	472	ATM	Likely benign	1591160115	RCV001423914;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200986	108200986		-
NM_000051.4(ATM):c.7354C>G (p.Leu2452Val)	472	ATM	Uncertain significance	587779863	RCV000115248\|RCV000212064\|RCV000463953\|RCV003333733\|RCV003415884;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|	11	108200987	108200987	NC_000011.9:g.108200987C>G	ClinGen:CA286981	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7354C>T (p.Leu2452=)	472	ATM	Likely benign	-1	RCV002863302\|RCV003111601\|RCV003367895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200987	108200987		-
NM_000051.4(ATM):c.7355T>C (p.Leu2452Pro)	472	ATM	Conflicting interpretations of pathogenicity	1555123032	RCV000572756\|RCV000671090\|RCV002298670;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108200988	108200988	NC_000011.9:g.108200988T>C	ClinGen:CA382559953	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7355T>A (p.Leu2452Gln)	472	ATM	Uncertain significance	1555123032	RCV001047630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200988	108200988	11:g.108200988T>A	-
NM_000051.4(ATM):c.7356dup (p.Arg2453fs)	472	ATM	Pathogenic	2086116982	RCV001210721\|RCV003163600;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108200988	108200989	11:g.108200988_108200989insG	-
NM_000051.4(ATM):c.7355T>G (p.Leu2452Arg)	472	ATM	Uncertain significance	1555123032	RCV001983452\|RCV002386859;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200988	108200988	108200988	-
NM_000051.4(ATM):c.7356G>C (p.Leu2452=)	472	ATM	Likely benign	-1	RCV002837488;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200989	108200989		-
NM_000051.4(ATM):c.7357C>T (p.Arg2453Cys)	472	ATM	Uncertain significance	755418571	RCV000221466\|RCV000478875\|RCV000534667\|RCV003462430;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108200990	108200990	11:g.108200990C>T	ClinGen:CA6266102	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7358G>A (p.Arg2453His)	472	ATM	Conflicting interpretations of pathogenicity	587781361	RCV000129153\|RCV000212065\|RCV000233904;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200991	108200991	11:g.108200991G>A	ClinGen:CA293982	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7358_7383delinsTAA (p.Arg2453fs)	472	ATM	Pathogenic	2086117562	RCV001240406;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200991	108201016	11:g.108200992_108201016del	-
NM_000051.4(ATM):c.7358G>C (p.Arg2453Pro)	472	ATM	Uncertain significance	587781361	RCV001326499;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200991	108200991	108200991	-
NM_000051.4(ATM):c.7359T>G (p.Arg2453=)	472	ATM	Conflicting interpretations of pathogenicity	786201541	RCV000163843\|RCV000195799\|RCV001088026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200992	108200992		ClinGen:CA189323	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7360G>C (p.Ala2454Pro)	472	ATM	Uncertain significance	1565529541	RCV001026323\|RCV003106100;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200993	108200993	11:g.108200993G>C	-
NM_000051.4(ATM):c.7361C>A (p.Ala2454Glu)	472	ATM	Uncertain significance	2086118064	RCV001060901;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200994	108200994	11:g.108200994C>A	-
NM_000051.4(ATM):c.7362A>C (p.Ala2454=)	472	ATM	Likely benign	1591160216	RCV000938954\|RCV002258058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200995	108200995		-
NM_000051.4(ATM):c.7363C>T (p.Leu2455=)	472	ATM	Likely benign	147665149	RCV000563767\|RCV000610506\|RCV000902801;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200996	108200996		ClinGen:CA6266103	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7364T>G (p.Leu2455Arg)	472	ATM	Uncertain significance	1555123056	RCV000559270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200997	108200997	11:g.108200997T>G	ClinGen:CA382559968	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7364T>C (p.Leu2455Pro)	472	ATM	Uncertain significance	1555123056	RCV001069247\|RCV002379615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200997	108200997	11:g.108200997T>C	-
NM_000051.4(ATM):c.7365G>C (p.Leu2455=)	472	ATM	Likely benign	756506590	RCV000164981\|RCV000935341;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108200998	108200998		ClinGen:CA192216	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7365G>A (p.Leu2455=)	472	ATM	Likely benign	756506590	RCV000978983\|RCV001026325;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108200998	108200998		-
NM_000051.4(ATM):c.7370_7371del (p.Glu2457fs)	472	ATM	Pathogenic	1591160284	RCV001026338\|RCV002551956;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201001	108201002	11:g.108201001_108201002del	-
NM_000051.4(ATM):c.7368A>G (p.Lys2456=)	472	ATM	Conflicting interpretations of pathogenicity	2136455679	RCV001369052\|RCV002384532;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201001	108201001		-
NM_000051.4(ATM):c.7370A>C (p.Glu2457Ala)	472	ATM	Conflicting interpretations of pathogenicity	778482902	RCV000218733\|RCV000485580\|RCV000701716\|RCV003338466;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145	11	108201003	108201003	11:g.108201003A>C	ClinGen:CA6266104	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7371G>A (p.Glu2457=)	472	ATM	Likely benign	1454725863	RCV000535462\|RCV001026340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201004	108201004		ClinGen:CA476676872	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7373A>T (p.Asp2458Val)	472	ATM	Uncertain significance	879254201	RCV000235784\|RCV000702918\|RCV001026341\|RCV003469188;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108201006	108201006	NC_000011.9:g.108201006A>T	ClinGen:CA10584366	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7375C>G (p.Arg2459Gly)	472	ATM	Uncertain significance	730881383	RCV000159750\|RCV000212066\|RCV000228814\|RCV002498792\|RCV003467236;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108201008	108201008	NC_000011.9:g.108201008C>G	ClinGen:CA298319	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7375C>T (p.Arg2459Cys)	472	ATM	Uncertain significance	730881383	RCV000165342\|RCV000197298\|RCV000512906\|RCV000764943\|RCV001193059\|RCV002288746;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108201008	108201008	11:g.108201008C>T	ClinGen:CA193139	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7375C>A (p.Arg2459Ser)	472	ATM	Uncertain significance	730881383	RCV001026343\|RCV001873408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201008	108201008	11:g.108201008C>A	-
NM_000051.4(ATM):c.7376G>A (p.Arg2459His)	472	ATM	Uncertain significance	1064796589	RCV000481778\|RCV000571661\|RCV001039067;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201009	108201009	11:g.108201009G>A	ClinGen:CA16619231	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7376del (p.Arg2459fs)	472	ATM	Pathogenic	2086120321	RCV001064158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201009	108201009	11:g.108201009_108201009del	-
NM_000051.4(ATM):c.7380del (p.Lys2460fs)	472	ATM	Pathogenic	2136456432	RCV001382151;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201011	108201011	108201010	-
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys)	472	ATM	Conflicting interpretations of pathogenicity	201314561	RCV000131731\|RCV000206694\|RCV000212067\|RCV000764944\|RCV001535788\|RCV001375519\|RCV003415962\|RCV003462021;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108201014	108201014	11:g.108201014C>T	ClinGen:CA294439	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7381C>G (p.Arg2461Gly)	472	ATM	Uncertain significance	-1	RCV003033771;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201014	108201014	NC_000011.9:g.108201014C>G	-
NM_000051.4(ATM):c.7382G>A (p.Arg2461His)	472	ATM	Uncertain significance	768461085	RCV000199157\|RCV000217134\|RCV000710682\|RCV000779801\|RCV003468902;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108201015	108201015	11:g.108201015G>A	ClinGen:CA338430	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7382G>C (p.Arg2461Pro)	472	ATM	Uncertain significance	768461085	RCV000548064\|RCV002384022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201015	108201015	NC_000011.9:g.108201015G>C	ClinGen:CA382560025	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7383C>T (p.Arg2461=)	472	ATM	Likely benign	1429991894	RCV000608353\|RCV001026357\|RCV001426507;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201016	108201016		ClinGen:CA476676888	CN169374 not specified;
NM_000051.4(ATM):c.7384T>C (p.Phe2462Leu)	472	ATM	Uncertain significance	878853543	RCV000231581\|RCV000563658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201017	108201017	11:g.108201017T>C	ClinGen:CA10582851	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7384T>G (p.Phe2462Val)	472	ATM	Uncertain significance	878853543	RCV001928705\|RCV002386743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201017	108201017	108201017	-
NM_000051.4(ATM):c.7386C>G (p.Phe2462Leu)	472	ATM	Uncertain significance	2136456889	RCV001984131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201019	108201019	108201019	-
NM_000051.4(ATM):c.7389A>G (p.Leu2463=)	472	ATM	Likely benign	2136457026	RCV002156464;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201022	108201022		-
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg)	472	ATM	Conflicting interpretations of pathogenicity	55801750	RCV000115249\|RCV000119204\|RCV000202803\|RCV000589438\|RCV001356727\|RCV001798325\|RCV003415885;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|	11	108201023	108201023	NC_000011.9:g.108201023T>C	ClinGen:CA249000,UniProtKB:Q13315#VAR_041578	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7390T>G (p.Cys2464Gly)	472	ATM	Uncertain significance	55801750	RCV001340417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201023	108201023	108201023	-
NM_000051.4(ATM):c.7391G>A (p.Cys2464Tyr)	472	ATM	Uncertain significance	1555123119	RCV000569358\|RCV001867875;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201024	108201024	11:g.108201024G>A	ClinGen:CA382560061	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7395A>G (p.Lys2465=)	472	ATM	Conflicting interpretations of pathogenicity	2086122414	RCV001043876\|RCV002379517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201028	108201028		-
NM_000051.4(ATM):c.7397C>A (p.Ala2466Glu)	472	ATM	Conflicting interpretations of pathogenicity	1324075885	RCV001059517\|RCV003160479\|RCV003467801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108201030	108201030	11:g.108201030C>A	-
NM_000051.4(ATM):c.7398A>G (p.Ala2466=)	472	ATM	Likely benign	2136457427	RCV002208683;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201031	108201031		-
NM_000051.4(ATM):c.7399G>A (p.Val2467Ile)	472	ATM	Uncertain significance	769722643	RCV000226487\|RCV001026377\|RCV001354974\|RCV001799641;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	11	108201032	108201032	NC_000011.9:g.108201032G>A	ClinGen:CA6266107	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7400T>C (p.Val2467Ala)	472	ATM	Uncertain significance	1591160606	RCV000808583;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201033	108201033	11:g.108201033T>C	-
NM_000051.4(ATM):c.7401T>G (p.Val2467=)	472	ATM	Likely benign	1565529761	RCV000771451\|RCV002533987;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201034	108201034		-
NM_000051.4(ATM):c.7406dup (p.Asn2469fs)	472	ATM	Pathogenic	2086123262	RCV001054114\|RCV002379559;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201035	108201036	11:g.108201035_108201036insA	-
NM_000051.4(ATM):c.7402G>C (p.Glu2468Gln)	472	ATM	Uncertain significance	-1	RCV002843387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201035	108201035	NC_000011.9:g.108201035G>C	-
NM_000051.4(ATM):c.7408T>G (p.Tyr2470Asp)	472	ATM	Pathogenic/Likely pathogenic	876659365	RCV000220077\|RCV000528764\|RCV002247654;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108201041	108201041	11:g.108201041T>G	ClinGen:CA10579258,UniProtKB:Q13315#VAR_010858	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7409A>G (p.Tyr2470Cys)	472	ATM	Uncertain significance	878853544	RCV000228986\|RCV001026398;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201042	108201042	11:g.108201042A>G	ClinGen:CA10582852	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7409A>T (p.Tyr2470Phe)	472	ATM	Uncertain significance	878853544	RCV000774804\|RCV001221734\|RCV001772031;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108201042	108201042	NC_000011.9:g.108201042A>T	-
NM_000051.4(ATM):c.7410T>C (p.Tyr2470=)	472	ATM	Likely benign	1555123144	RCV000570565\|RCV001500186;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201043	108201043		ClinGen:CA476676912
NM_000051.4(ATM):c.7412T>G (p.Ile2471Ser)	472	ATM	Uncertain significance	1591160703	RCV000823743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201045	108201045	11:g.108201045T>G	-
NM_000051.4(ATM):c.7414A>T (p.Asn2472Tyr)	472	ATM	Uncertain significance	-1	RCV003049529;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201047	108201047	NC_000011.9:g.108201047A>T	-
NM_000051.4(ATM):c.7415A>G (p.Asn2472Ser)	472	ATM	Conflicting interpretations of pathogenicity	1565529851	RCV000686742\|RCV001026408;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201048	108201048	NC_000011.9:g.108201048A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7417del (p.Cys2473fs)	472	ATM	Pathogenic/Likely pathogenic	2086125359	RCV001204812\|RCV003469330;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108201050	108201050	11:g.108201050_108201050del	-
NM_000051.4(ATM):c.7418G>C (p.Cys2473Ser)	472	ATM	Uncertain significance	-1	RCV002847814;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201051	108201051	NC_000011.9:g.108201051G>C	-
NM_000051.4(ATM):c.7420T>C (p.Leu2474=)	472	ATM	Likely benign	1555123149	RCV000539648;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201053	108201053		ClinGen:CA476676922	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7421T>C (p.Leu2474Ser)	472	ATM	Uncertain significance	2136458920	RCV001359333\|RCV003238359;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108201054	108201054	108201054	-
NM_000051.4(ATM):c.7422A>G (p.Leu2474=)	472	ATM	Likely benign	1591160792	RCV000934751\|RCV001026419;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201055	108201055		-
NM_000051.4(ATM):c.7422A>T (p.Leu2474Phe)	472	ATM	Uncertain significance	1591160792	RCV001066003;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201055	108201055	11:g.108201055A>T	-
NM_000051.4(ATM):c.7423T>C (p.Leu2475=)	472	ATM	Likely benign	2136459027	RCV002165342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201056	108201056		-
NM_000051.4(ATM):c.7424T>C (p.Leu2475Ser)	472	ATM	Uncertain significance	1224883896	RCV000547701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201057	108201057	11:g.108201057T>C	ClinGen:CA382560217	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7425A>G (p.Leu2475=)	472	ATM	Likely benign	1555123162	RCV000571967\|RCV000780922\|RCV002060381;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201058	108201058		ClinGen:CA476676927	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7425_7429del (p.Ser2476fs)	472	ATM	Pathogenic	2136459200	RCV001390482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201058	108201062	108201057	-
NM_000051.4(ATM):c.7427G>A (p.Ser2476Asn)	472	ATM	Uncertain significance	1591160841	RCV000822594;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201060	108201060	11:g.108201060G>A	-
NM_000051.4(ATM):c.7429G>A (p.Gly2477Arg)	472	ATM	Uncertain significance	778550056	RCV000771933\|RCV001869079;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201062	108201062	NC_000011.9:g.108201062G>A	-
NM_000051.4(ATM):c.7430G>C (p.Gly2477Ala)	472	ATM	Uncertain significance	2136459422	RCV001954411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201063	108201063	108201063	-
NM_000051.4(ATM):c.7431A>T (p.Gly2477=)	472	ATM	Likely benign	1158876832	RCV000572812\|RCV002526767;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201064	108201064		ClinGen:CA476676933	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7434A>G (p.Glu2478=)	472	ATM	Likely benign	1555123171	RCV000628257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201067	108201067		ClinGen:CA476676935	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7435G>C (p.Glu2479Gln)	472	ATM	Uncertain significance	1060501583	RCV000469490\|RCV000575443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201068	108201068	NC_000011.9:g.108201068G>C	ClinGen:CA16613491	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7437del (p.Glu2479fs)	472	ATM	Pathogenic	-1	RCV002871619;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201069	108201069	NC_000011.9:g.108201070del	-
NM_000051.4(ATM):c.7437A>G (p.Glu2479=)	472	ATM	Likely benign	1591160964	RCV001479218;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201070	108201070		-
NM_000051.4(ATM):c.7438C>T (p.His2480Tyr)	472	ATM	Uncertain significance	1029740910	RCV001239078\|RCV002379912;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201071	108201071	11:g.108201071C>T	-
NM_000051.4(ATM):c.7441G>A (p.Asp2481Asn)	472	ATM	Uncertain significance	2086127903	RCV001057052;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201074	108201074	11:g.108201074G>A	-
NM_000051.4(ATM):c.7442A>G (p.Asp2481Gly)	472	ATM	Uncertain significance	2086128087	RCV001042525;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201075	108201075	11:g.108201075A>G	-
NM_000051.4(ATM):c.7443T>C (p.Asp2481=)	472	ATM	Likely benign	1555123181	RCV000570126\|RCV001450794;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201076	108201076		ClinGen:CA476676942
NM_000051.4(ATM):c.7444A>G (p.Met2482Val)	472	ATM	Uncertain significance	951373716	RCV000477084\|RCV001026441;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201077	108201077	NC_000011.9:g.108201077A>G	ClinGen:CA16613428	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7444A>T (p.Met2482Leu)	472	ATM	Uncertain significance	951373716	RCV001279128\|RCV003166606;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201077	108201077	11:g.108201077A>T	-
NM_000051.4(ATM):c.7445T>C (p.Met2482Thr)	472	ATM	Uncertain significance	1555123191	RCV000562572\|RCV000553049\|RCV000779799\|RCV003148773\|RCV003470685;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108201078	108201078	11:g.108201078T>C	ClinGen:CA382560318	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7446G>A (p.Met2482Ile)	472	ATM	Uncertain significance	2136460286	RCV001362559\|RCV002384513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201079	108201079	108201079	-
NM_000051.4(ATM):c.7447T>C (p.Trp2483Arg)	472	ATM	Uncertain significance	1591161080	RCV001026443\|RCV001862368;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201080	108201080	11:g.108201080T>C	-
NM_000051.4(ATM):c.7448G>A (p.Trp2483Ter)	472	ATM	Pathogenic	2136460393	RCV001985212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201081	108201081	108201081	-
NM_000051.4(ATM):c.7449G>A (p.Trp2483Ter)	472	ATM	Pathogenic	773516672	RCV000236176\|RCV000573086\|RCV001203956\|RCV003469182;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108201082	108201082	NC_000011.9:g.108201082G>A	ClinGen:CA6266108	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7450G>A (p.Val2484Ile)	472	ATM	Conflicting interpretations of pathogenicity	587779864	RCV000115250\|RCV000565502\|RCV002515793;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201083	108201083	NC_000011.9:g.108201083G>A	ClinGen:CA286984	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7450G>T (p.Val2484Leu)	472	ATM	Uncertain significance	587779864	RCV001026454\|RCV001301933;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201083	108201083	11:g.108201083G>T	-
NM_000051.4(ATM):c.7452A>G (p.Val2484=)	472	ATM	Likely benign	2136460667	RCV002210633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201085	108201085		-
NM_000051.4(ATM):c.7453T>G (p.Phe2485Val)	472	ATM	Uncertain significance	2136460721	RCV002015349;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201086	108201086	108201086	-
NM_000051.4(ATM):c.7456C>T (p.Arg2486Ter)	472	ATM	Pathogenic/Likely pathogenic	587779865	RCV000115251\|RCV000212068\|RCV000462583\|RCV001814060\|RCV003162535\|RCV003467032;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0011442,MedGen:C4023354\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeS	11	108201089	108201089	NC_000011.9:g.108201089C>T	ClinGen:CA286987	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7456C>G (p.Arg2486Gly)	472	ATM	Uncertain significance	587779865	RCV002025707;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201089	108201089	108201089	-
NM_000051.4(ATM):c.7457G>A (p.Arg2486Gln)	472	ATM	Uncertain significance	773944604	RCV000226656\|RCV000568839;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201090	108201090	11:g.108201090G>A	ClinGen:CA10582853	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7457G>T (p.Arg2486Leu)	472	ATM	Uncertain significance	-1	RCV003011935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201090	108201090	NC_000011.9:g.108201090G>T	-
NM_000051.4(ATM):c.7462T>C (p.Cys2488Arg)	472	ATM	Uncertain significance	1555123216	RCV000529170\|RCV002265789\|RCV002395263;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201095	108201095	11:g.108201095T>C	ClinGen:CA382560398	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7463G>A (p.Cys2488Tyr)	472	ATM	Conflicting interpretations of pathogenicity	774281788	RCV000166722\|RCV000255700\|RCV000509266\|RCV000541770\|RCV001175362\|RCV001535786\|RCV002247573;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MedGen:C1333600\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:000884	11	108201096	108201096	11:g.108201096G>A	ClinGen:CA196568	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7463G>T (p.Cys2488Phe)	472	ATM	Uncertain significance	774281788	RCV000803724\|RCV002388503;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201096	108201096	11:g.108201096G>T	-
NM_000051.4(ATM):c.7464T>C (p.Cys2488=)	472	ATM	Likely benign	1555123227	RCV000570356\|RCV000928485;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201097	108201097		ClinGen:CA476676961	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7464T>G (p.Cys2488Trp)	472	ATM	Uncertain significance	1555123227	RCV002030894;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201097	108201097	108201097	-
NM_000051.4(ATM):c.7466C>A (p.Ser2489Tyr)	472	ATM	Uncertain significance	759728261	RCV001066006\|RCV001354330\|RCV003307910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201099	108201099	11:g.108201099C>A	-
NM_000051.4(ATM):c.7466C>T (p.Ser2489Phe)	472	ATM	Uncertain significance	759728261	RCV001247186\|RCV002393658;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201099	108201099	11:g.108201099C>T	-
NM_000051.4(ATM):c.7467C>T (p.Ser2489=)	472	ATM	Likely benign	767846264	RCV000581911\|RCV002529196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201100	108201100		ClinGen:CA6266111	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7467C>A (p.Ser2489=)	472	ATM	Likely benign	767846264	RCV001442910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201100	108201100		-
NM_000051.4(ATM):c.7468C>T (p.Leu2490Phe)	472	ATM	Uncertain significance	753262623	RCV000219162\|RCV000229441\|RCV000587941\|RCV001420712;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108201101	108201101	11:g.108201101C>T	ClinGen:CA6266112	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7469dup (p.Trp2491fs)	472	ATM	Pathogenic	1591161290	RCV000995497;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201101	108201102	11:g.108201101_108201102insT	-
NM_000051.4(ATM):c.7469T>A (p.Leu2490His)	472	ATM	Uncertain significance	-1	RCV002594097;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201102	108201102	NC_000011.9:g.108201102T>A	-
NM_000051.4(ATM):c.7470C>G (p.Leu2490=)	472	ATM	Likely benign	1057521604	RCV000436636\|RCV000977898\|RCV001026477;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201103	108201103		ClinGen:CA16605824	CN169374 not specified;
NM_000051.4(ATM):c.7473G>T (p.Trp2491Cys)	472	ATM	Uncertain significance	1555123257	RCV000573365\|RCV000697910;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201106	108201106	NC_000011.9:g.108201106G>T	ClinGen:CA382560446	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7474C>T (p.Leu2492Phe)	472	ATM	Uncertain significance	1555123259	RCV000628083\|RCV003302966;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201107	108201107	11:g.108201107C>T	ClinGen:CA382560454	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg)	472	ATM	Conflicting interpretations of pathogenicity	56399857	RCV000115252\|RCV000195623\|RCV000488003\|RCV000786770\|RCV000780920\|RCV003325459;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374\|MONDO:MONDO:0850349,MedGen:CN37	11	108201108	108201108	NC_000011.9:g.108201108T>G	ClinGen:CA286990,UniProtKB:Q13315#VAR_041579	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7476T>G (p.Leu2492=)	472	ATM	Likely benign	2136462119	RCV002150754;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201109	108201109		-
NM_000051.4(ATM):c.7482T>A (p.Asn2494Lys)	472	ATM	Uncertain significance	-1	RCV002391517\|RCV003099652;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201115	108201115	108201115	-
NM_000051.4(ATM):c.7484C>T (p.Ser2495Phe)	472	ATM	Uncertain significance	1449747119	RCV000574663\|RCV000692282\|RCV003465186;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108201117	108201117	11:g.108201117C>T	ClinGen:CA382560503	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7485T>G (p.Ser2495=)	472	ATM	Likely benign	-1	RCV002995543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201118	108201118		-
NM_000051.4(ATM):c.7486G>C (p.Gly2496Arg)	472	ATM	Uncertain significance	1565530187	RCV000690455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201119	108201119	NC_000011.9:g.108201119G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7486G>A (p.Gly2496Arg)	472	ATM	Uncertain significance	1565530187	RCV001212158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201119	108201119	11:g.108201119G>A	-
NM_000051.4(ATM):c.7487G>A (p.Gly2496Glu)	472	ATM	Conflicting interpretations of pathogenicity	764478418	RCV000215037\|RCV001042097\|RCV003153502;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	11	108201120	108201120	11:g.108201120G>A	ClinGen:CA6266113	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7492T>G (p.Ser2498Ala)	472	ATM	Uncertain significance	754245181	RCV000457188\|RCV000574776;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201125	108201125	NC_000011.9:g.108201125T>G	ClinGen:CA16613206	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7494T>C (p.Ser2498=)	472	ATM	Conflicting interpretations of pathogenicity	34393781	RCV000159594\|RCV000205045\|RCV000212070\|RCV000589020\|RCV001356383;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0002032,MedGen:C0699790	11	108201127	108201127		ClinGen:CA297966	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7495G>T (p.Glu2499Ter)	472	ATM	Pathogenic	2136463344	RCV001953689;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201128	108201128	108201128	-
NM_000051.4(ATM):c.7496A>G (p.Glu2499Gly)	472	ATM	Uncertain significance	1224705805	RCV000573739\|RCV001048061;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201129	108201129	NC_000011.9:g.108201129A>G	ClinGen:CA382560547	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7498G>A (p.Val2500Ile)	472	ATM	Uncertain significance	1555123294	RCV000583373\|RCV001853904;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201131	108201131	NC_000011.9:g.108201131G>A	ClinGen:CA382560557	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7499T>G (p.Val2500Gly)	472	ATM	Uncertain significance	779810877	RCV001890147;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201132	108201132	108201132	-
NM_000051.4(ATM):c.7500C>T (p.Val2500=)	472	ATM	Conflicting interpretations of pathogenicity	1060504286	RCV000462023\|RCV000580070\|RCV001567892\|RCV003150226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN221562	11	108201133	108201133		ClinGen:CA16613429
NM_000051.4(ATM):c.7502A>G (p.Asn2501Ser)	472	ATM	Conflicting interpretations of pathogenicity	531617441	RCV000222504\|RCV000233636\|RCV000486420\|RCV000764945\|RCV001818535\|RCV003338468;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108201135	108201135	11:g.108201135A>G	ClinGen:CA6266116	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7503T>A (p.Asn2501Lys)	472	ATM	Uncertain significance	1591161664	RCV001004841\|RCV001858471;	N	\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201136	108201136	11:g.108201136T>A	-
NM_000051.4(ATM):c.7504_7510del (p.Asn2501_Gly2502insTer)	472	ATM	Pathogenic	2086137107	RCV001224511;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201137	108201143	11:g.108201137_108201143del	-
NM_000051.4(ATM):c.7505G>T (p.Gly2502Val)	472	ATM	Uncertain significance	754517317	RCV001068510;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201138	108201138	11:g.108201138G>T	-
NM_000051.4(ATM):c.7507A>G (p.Met2503Val)	472	ATM	Uncertain significance	780931855	RCV000531100;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201140	108201140	11:g.108201140A>G	ClinGen:CA382560594	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7507A>T (p.Met2503Leu)	472	ATM	Uncertain significance	780931855	RCV000574835\|RCV000764946\|RCV001217033;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201140	108201140	NC_000011.9:g.108201140A>T	ClinGen:CA6266118	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7509G>A (p.Met2503Ile)	472	ATM	Uncertain significance	1266101531	RCV000627978\|RCV002289916\|RCV002395643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108201142	108201142	NC_000011.9:g.108201142G>A	ClinGen:CA382560598	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7510dup (p.Met2504fs)	472	ATM	Pathogenic	1591161769	RCV000803490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201142	108201143	11:g.108201142_108201143insA	-
NM_000051.4(ATM):c.7511T>C (p.Met2504Thr)	472	ATM	Uncertain significance	1060501644	RCV000459419\|RCV000570170\|RCV001813779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108201144	108201144	NC_000011.9:g.108201144T>C	ClinGen:CA16613122	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7511T>A (p.Met2504Lys)	472	ATM	Uncertain significance	1060501644	RCV001312373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201144	108201144	108201144	-
NM_000051.4(ATM):c.7512G>A (p.Met2504Ile)	472	ATM	Uncertain significance	1350657331	RCV001895916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201145	108201145	108201145	-
NM_000051.4(ATM):c.7515+1del	472	ATM	Pathogenic	2136465036	RCV001946855;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201148	108201148	108201147	-
NM_000051.4(ATM):c.7515+1G>A	472	ATM	Pathogenic/Likely pathogenic	1591161831	RCV001026519\|RCV001862370;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201149	108201149	11:g.108201149G>A	-
NM_000051.4(ATM):c.7515+1G>T	472	ATM	Pathogenic/Likely pathogenic	1591161831	RCV001379897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201149	108201149	108201149	-
NM_000051.4(ATM):c.7515+4del	472	ATM	Uncertain significance	2136465168	RCV001996962;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201151	108201151	108201150	-
NM_000051.4(ATM):c.7515+4A>G	472	ATM	Uncertain significance	1565530434	RCV000705306;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201152	108201152	NC_000011.9:g.108201152A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7515+5G>A	472	ATM	Uncertain significance	1555123361	RCV000560777;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201153	108201153	11:g.108201153G>A	ClinGen:CA645596421	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7515+5_7515+7del	472	ATM	Uncertain significance	2136465391	RCV001968159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201153	108201155	108201152	-
NM_000051.4(ATM):c.7515+6T>C	472	ATM	Uncertain significance	1250327887	RCV001317925;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201154	108201154	108201154	-
NM_000051.4(ATM):c.7515+7G>A	472	ATM	Likely benign	2136465577	RCV001418152;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201155	108201155	108201155	-
NM_000051.4(ATM):c.7515+9T>G	472	ATM	Likely benign	1465593444	RCV000582219\|RCV002529197;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201157	108201157	11:g.108201157T>G	ClinGen:CA658683755	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7515+9T>A	472	ATM	Likely benign	1465593444	RCV001460907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201157	108201157	11:g.108201157T>A	-
NM_000051.4(ATM):c.7515+14A>G	472	ATM	Likely benign	-1	RCV002872145;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201162	108201162	NC_000011.9:g.108201162A>G	-
NM_000051.4(ATM):c.7515+14A>C	472	ATM	Likely benign	-1	RCV003065879;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201162	108201162	NC_000011.9:g.108201162A>C	-
NM_000051.4(ATM):c.7515+20A>G	472	ATM	Benign/Likely benign	80124497	RCV000123713\|RCV000580137\|RCV000669161;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201168	108201168	NC_000011.9:g.108201168A>G	ClinGen:CA289522	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7515+22_7515+23del	472	ATM	Likely benign	2136466787	RCV002126594;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108201168	108201169	108201167	-
NM_000051.4(ATM):c.7516-20T>G	472	ATM	Likely benign	2136489275	RCV002176782;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202151	108202151	108202151	-
NM_000051.4(ATM):c.7516-19_7516-18insAA	472	ATM	Likely benign	1361261201	RCV002203522;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202152	108202153	108202152	-
NM_000051.4(ATM):c.7516-9dup	472	ATM	Benign/Likely benign	573494809	RCV000486956\|RCV000580746\|RCV001516817\|RCV001537832\|RCV003150232;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN221562	11	108202154	108202155	NC_000011.9:g.108202162dup	ClinGen:CA6266133	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7516-17del	472	ATM	Likely benign	1223140309	RCV002205341;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202154	108202154	108202153	-
NM_000051.4(ATM):c.7516-9del	472	ATM	Conflicting interpretations of pathogenicity	573494809	RCV000586409\|RCV000611165\|RCV000772040\|RCV002530884;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202155	108202155	11:g.108202155_108202155del	ClinGen:CA6266134	CN517202 not provided;
NM_000051.4(ATM):c.7516-15T>G	472	ATM	Conflicting interpretations of pathogenicity	1400642000	RCV001525295\|RCV002568809\|RCV003150440;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108202156	108202156	108202156	-
NM_000051.4(ATM):c.7516-14T>C	472	ATM	Likely benign	1254619756	RCV002116874;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202157	108202157	108202157	-
NM_000051.4(ATM):c.7516-14T>A	472	ATM	Likely benign	-1	RCV002870703;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202157	108202157	NC_000011.9:g.108202157T>A	-
NM_000051.4(ATM):c.7516-13T>G	472	ATM	Likely benign	2136489988	RCV002087224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202158	108202158	108202158	-
NC_000011.10:g.(?_108331434)_(108335971_?)dup	472	ATM	Uncertain significance	-1	RCV001033876;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202161	108206698	-1	-
NM_000051.4(ATM):c.7516-7del	472	ATM	Likely benign	1591166840	RCV001436426;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202163	108202163	11:g.108202163_108202163del	-
NM_000051.4(ATM):c.7516-8A>T	472	ATM	Likely benign	2136490103	RCV001471726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202163	108202163	108202163	-
NM_000051.4(ATM):c.7516-6T>C	472	ATM	Likely benign	1057521003	RCV000443128\|RCV001435116;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202165	108202165	11:g.108202165T>C	ClinGen:CA16605825	CN169374 not specified;
NM_000051.4(ATM):c.7516-5G>A	472	ATM	Conflicting interpretations of pathogenicity	1057520837	RCV000433899\|RCV002392970\|RCV002521564;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202166	108202166	11:g.108202166G>A	ClinGen:CA16606211	CN169374 not specified;
NM_000051.4(ATM):c.7516-4G>T	472	ATM	Conflicting interpretations of pathogenicity	876660105	RCV000216914\|RCV002054988;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202167	108202167	11:g.108202167G>T	ClinGen:CA10579259	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7517_7520del	472	ATM	Conflicting interpretations of pathogenicity	587781905	RCV000130244\|RCV000236845\|RCV000258095\|RCV001253389\|RCV002225430;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C067777	11	108202169	108202172	11:g.108202169_108202172del	ClinGen:CA166031	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_152587.2(C11orf65):c.1389_1390TC[2]	472	ATM	Pathogenic	587781905	RCV001026521\|RCV001241046\|RCV003336274\|RCV003160185;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D0	11	108202169	108202170	11:g.108202169_108202170del	-
NM_000051.4(ATM):c.7516-1G>C	472	ATM	Likely pathogenic	-1	RCV002393798\|RCV003103410;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202170	108202170	108202170	-
NM_000051.4(ATM):c.7516A>G (p.Arg2506Gly)	472	ATM	Uncertain significance	200441272	RCV000226242\|RCV000236767\|RCV000570854\|RCV001535479\|RCV003417803\|RCV003463633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|\|MONDO:MONDO:0	11	108202171	108202171	11:g.108202171A>G	ClinGen:CA6266135	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7517G>A (p.Arg2506Lys)	472	ATM	Uncertain significance	1555123920	RCV000532438;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202172	108202172	NC_000011.9:g.108202172G>A	ClinGen:CA382560632	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7518A>G (p.Arg2506=)	472	ATM	Likely benign	2086221982	RCV001405716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202173	108202173		-
NM_000051.4(ATM):c.7519G>C (p.Asp2507His)	472	ATM	Uncertain significance	2136491059	RCV001903864\|RCV003365540\|RCV003471030;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202174	108202174	108202174	-
NM_000051.4(ATM):c.7521C>T (p.Asp2507=)	472	ATM	Benign/Likely benign	751234924	RCV000162738\|RCV000198042\|RCV001528426;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202176	108202176		ClinGen:CA186843	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7521C>A (p.Asp2507Glu)	472	ATM	Uncertain significance	751234924	RCV000562477\|RCV001045328;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202176	108202176	NC_000011.9:g.108202176C>A	ClinGen:CA382560643	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7522G>A (p.Gly2508Arg)	472	ATM	Conflicting interpretations of pathogenicity	754395517	RCV000166982\|RCV000235394\|RCV000461205\|RCV003416043;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108202177	108202177	11:g.108202177G>A	ClinGen:CA197186	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7525A>G (p.Met2509Val)	472	ATM	Uncertain significance	979101125	RCV001210119\|RCV002290637\|RCV002393474;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202180	108202180	11:g.108202180A>G	-
NM_000051.4(ATM):c.7525A>T (p.Met2509Leu)	472	ATM	Uncertain significance	979101125	RCV002050149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202180	108202180	108202180	-
NM_000051.4(ATM):c.7526dup (p.Met2509fs)	472	ATM	Pathogenic	-1	RCV002393847\|RCV003099666;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202180	108202181	108202180	-
NM_000051.4(ATM):c.7527G>A (p.Met2509Ile)	472	ATM	Uncertain significance	1060501579	RCV000457039\|RCV001753881;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202182	108202182	NC_000011.9:g.108202182G>A	ClinGen:CA16613494	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7527G>C (p.Met2509Ile)	472	ATM	Uncertain significance	-1	RCV002301712\|RCV002391413;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202182	108202182	108202182	-
NM_000051.4(ATM):c.7531A>T (p.Ile2511Phe)	472	ATM	Uncertain significance	146069748	RCV000132099\|RCV000196793\|RCV000236905\|RCV003467190;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202186	108202186	11:g.108202186A>T	ClinGen:CA169255	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7533T>C (p.Ile2511=)	472	ATM	Likely benign	786201279	RCV000163227\|RCV001429278;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202188	108202188		ClinGen:CA187795	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7534C>A (p.Pro2512Thr)	472	ATM	Uncertain significance	1565532052	RCV000687808\|RCV002388210;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202189	108202189	NC_000011.9:g.108202189C>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7534C>T (p.Pro2512Ser)	472	ATM	Uncertain significance	1565532052	RCV001369606;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202189	108202189	108202189	-
NM_000051.4(ATM):c.7535C>T (p.Pro2512Leu)	472	ATM	Uncertain significance	1237858258	RCV000694707\|RCV001026532;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202190	108202190	NC_000011.9:g.108202190C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7536A>G (p.Pro2512=)	472	ATM	Likely benign	786202802	RCV000165803\|RCV002053978;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202191	108202191		ClinGen:CA194227	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7537A>G (p.Thr2513Ala)	472	ATM	Uncertain significance	1480066803	RCV001309522\|RCV003469534;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202192	108202192	108202192	-
NM_000051.4(ATM):c.7538C>G (p.Thr2513Arg)	472	ATM	Uncertain significance	2136492214	RCV001943286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202193	108202193	108202193	-
NM_000051.4(ATM):c.7539A>G (p.Thr2513=)	472	ATM	Likely benign	752294923	RCV000601049\|RCV001026536\|RCV002063927;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202194	108202194		ClinGen:CA6266136	CN169374 not specified;
NM_000051.4(ATM):c.7540T>C (p.Tyr2514His)	472	ATM	Uncertain significance	1555123985	RCV000627905\|RCV002395641;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202195	108202195	11:g.108202195T>C	ClinGen:CA382560682	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7541A>T (p.Tyr2514Phe)	472	ATM	Uncertain significance	1555123994	RCV000561010\|RCV001308161;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202196	108202196	11:g.108202196A>T	ClinGen:CA382560687	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7541A>G (p.Tyr2514Cys)	472	ATM	Uncertain significance	1555123994	RCV000627960\|RCV002395642;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202196	108202196	11:g.108202196A>G	ClinGen:CA382560686	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7542T>C (p.Tyr2514=)	472	ATM	Conflicting interpretations of pathogenicity	777925486	RCV000166968\|RCV000430989\|RCV000463235\|RCV001711449;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202197	108202197		ClinGen:CA197160	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7542_7543del (p.Tyr2514_Lys2515delinsTer)	472	ATM	Pathogenic	1555123981	RCV000627914\|RCV000771704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202197	108202198	NC_000011.9:g.108202195TA[1]	ClinGen:CA658797729	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7542T>G (p.Tyr2514Ter)	472	ATM	Pathogenic	777925486	RCV000674615\|RCV003442016;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202197	108202197	11:g.108202197T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7543A>G (p.Lys2515Glu)	472	ATM	Uncertain significance	1555124004	RCV000627851\|RCV002395640;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202198	108202198	11:g.108202198A>G	ClinGen:CA382560691	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7544A>C (p.Lys2515Thr)	472	ATM	Uncertain significance	1591167340	RCV001026545\|RCV001862371;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202199	108202199	11:g.108202199A>C	-
NM_000051.4(ATM):c.7545A>G (p.Lys2515=)	472	ATM	Likely benign	1467809725	RCV000628318\|RCV002395644;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202200	108202200		ClinGen:CA476677040	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7550del (p.Leu2517fs)	472	ATM	Pathogenic	2136492942	RCV001887101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202201	108202201	108202200	-
NM_000051.4(ATM):c.7547T>G (p.Phe2516Cys)	472	ATM	Uncertain significance	774312539	RCV000567980\|RCV000810836;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202202	108202202	NC_000011.9:g.108202202T>G	ClinGen:CA6266139	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7549_7562delinsATG (p.Leu2517fs)	472	ATM	Pathogenic	1591167422	RCV000809700;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202204	108202217	11:g.108202205_108202217del	-
NM_000051.4(ATM):c.7552C>T (p.Pro2518Ser)	472	ATM	Uncertain significance	374876799	RCV000159751\|RCV000212071\|RCV000469048\|RCV003462076;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202207	108202207	NC_000011.9:g.108202207C>T	ClinGen:CA298322	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7553C>T (p.Pro2518Leu)	472	ATM	Uncertain significance	879254136	RCV000236198\|RCV000474629\|RCV002392731;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202208	108202208	NC_000011.9:g.108202208C>T	ClinGen:CA10584368	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7553C>A (p.Pro2518His)	472	ATM	Uncertain significance	879254136	RCV000811164;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202208	108202208	11:g.108202208C>A	-
NM_000051.4(ATM):c.7555C>G (p.Leu2519Val)	472	ATM	Uncertain significance	1555124019	RCV000628121\|RCV001026558;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202210	108202210	11:g.108202210C>G	ClinGen:CA382560716	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7555C>A (p.Leu2519Ile)	472	ATM	Uncertain significance	1555124019	RCV001058678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202210	108202210	11:g.108202210C>A	-
NM_000051.4(ATM):c.7557dup (p.Met2520fs)	472	ATM	Pathogenic	2136493530	RCV001989748\|RCV003170143;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202210	108202211	108202210	-
NM_000051.4(ATM):c.7556T>C (p.Leu2519Pro)	472	ATM	Uncertain significance	2136493486	RCV001874972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202211	108202211	108202211	-
NM_000051.4(ATM):c.7557T>C (p.Leu2519=)	472	ATM	Likely benign	1060504266	RCV001487520;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202212	108202212		ClinGen:CA16613126
NM_000051.4(ATM):c.7558A>C (p.Met2520Leu)	472	ATM	Uncertain significance	1591167508	RCV001026560\|RCV001862372;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202213	108202213	11:g.108202213A>C	-
NM_000051.4(ATM):c.7558A>T (p.Met2520Leu)	472	ATM	Uncertain significance	1591167508	RCV001904383\|RCV002388721;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202213	108202213	108202213	-
NM_000051.4(ATM):c.7559T>G (p.Met2520Arg)	472	ATM	Conflicting interpretations of pathogenicity	587782692	RCV000132126\|RCV000522314\|RCV000627852;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202214	108202214	11:g.108202214T>G	ClinGen:CA169309	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7559T>C (p.Met2520Thr)	472	ATM	Uncertain significance	-1	RCV003325295;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202214	108202214		-
NM_000051.4(ATM):c.7560G>A (p.Met2520Ile)	472	ATM	Uncertain significance	1591167543	RCV001026571\|RCV001192420\|RCV001239899;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202215	108202215	11:g.108202215G>A	-
NM_000051.4(ATM):c.7561T>G (p.Tyr2521Asp)	472	ATM	Uncertain significance	2136493941	RCV001875503;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202216	108202216	108202216	-
NM_000051.4(ATM):c.7562A>G (p.Tyr2521Cys)	472	ATM	Uncertain significance	876660422	RCV000214484\|RCV001237625;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202217	108202217	11:g.108202217A>G	ClinGen:CA10579260	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7562A>T (p.Tyr2521Phe)	472	ATM	Uncertain significance	-1	RCV002942701;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202217	108202217	NC_000011.9:g.108202217A>T	-
NM_000051.4(ATM):c.7563C>G (p.Tyr2521Ter)	472	ATM	Pathogenic	772228129	RCV000230138;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202218	108202218	11:g.108202218C>G	ClinGen:CA10582854	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7563C>T (p.Tyr2521=)	472	ATM	Likely benign	772228129	RCV002178164\|RCV002391171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202218	108202218		-
NM_000051.4(ATM):c.7564C>G (p.Gln2522Glu)	472	ATM	Uncertain significance	1591167598	RCV000802286;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202219	108202219	11:g.108202219C>G	-
NM_000051.4(ATM):c.7565A>G (p.Gln2522Arg)	472	ATM	Uncertain significance	1555124039	RCV000557040\|RCV002395265;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202220	108202220	NC_000011.9:g.108202220A>G	ClinGen:CA382560740	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7565A>C (p.Gln2522Pro)	472	ATM	Uncertain significance	-1	RCV003022150;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202220	108202220	NC_000011.9:g.108202220A>C	-
NM_000051.4(ATM):c.7566A>G (p.Gln2522=)	472	ATM	Conflicting interpretations of pathogenicity	775621333	RCV000206378\|RCV000483209\|RCV000574825\|RCV001193662;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108202221	108202221		ClinGen:CA350418	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7566A>T (p.Gln2522His)	472	ATM	Uncertain significance	775621333	RCV000537750\|RCV000563607;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202221	108202221	11:g.108202221A>T	ClinGen:CA382560742	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7567T>C (p.Leu2523=)	472	ATM	Likely benign	1565532289	RCV000772453\|RCV001355617\|RCV001445963\|RCV003150343;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108202222	108202222		-
NM_000051.4(ATM):c.7568T>G (p.Leu2523Trp)	472	ATM	Uncertain significance	747145967	RCV001229300\|RCV002393568\|RCV003321813;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108202223	108202223	11:g.108202223T>G	-
NM_000051.4(ATM):c.7570G>C (p.Ala2524Pro)	472	ATM	Pathogenic/Likely pathogenic	769142993	RCV000167357\|RCV000550379\|RCV003319326;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202225	108202225	11:g.108202225G>C	ClinGen:CA198094	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7570G>T (p.Ala2524Ser)	472	ATM	Conflicting interpretations of pathogenicity	769142993	RCV000702258\|RCV000772608\|RCV001759398;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108202225	108202225	11:g.108202225G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7570G>A (p.Ala2524Thr)	472	ATM	Uncertain significance	769142993	RCV001066437\|RCV002393321;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202225	108202225	11:g.108202225G>A	-
NM_000051.4(ATM):c.7571C>T (p.Ala2524Val)	472	ATM	Uncertain significance	876660663	RCV000220965\|RCV001212210;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202226	108202226	11:g.108202226C>T	ClinGen:CA10579261	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7576A>G (p.Arg2526Gly)	472	ATM	Uncertain significance	1591167721	RCV001026580\|RCV001219389;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202231	108202231	11:g.108202231A>G	-
NM_000051.4(ATM):c.7577G>C (p.Arg2526Thr)	472	ATM	Uncertain significance	876659323	RCV000218566\|RCV000476708;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202232	108202232	11:g.108202232G>C	ClinGen:CA10579262	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7577G>A (p.Arg2526Lys)	472	ATM	Uncertain significance	876659323	RCV000483604\|RCV000568883\|RCV002298613;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202232	108202232	11:g.108202232G>A	ClinGen:CA16619234	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7579A>G (p.Met2527Val)	472	ATM	Uncertain significance	-1	RCV002297837;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202234	108202234	108202234	-
NM_000051.4(ATM):c.7581G>A (p.Met2527Ile)	472	ATM	Uncertain significance	2086230646	RCV001040513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202236	108202236	11:g.108202236G>A	-
NM_000051.4(ATM):c.7585del (p.Thr2529fs)	472	ATM	Pathogenic	-1	RCV002814754;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202240	108202240	NC_000011.9:g.108202240del	-
NM_000051.4(ATM):c.7587C>T (p.Thr2529=)	472	ATM	Likely benign	890244103	RCV000583598\|RCV000934847;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202242	108202242		ClinGen:CA228418472	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7587C>G (p.Thr2529=)	472	ATM	Likely benign	-1	RCV002865976;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202242	108202242		-
NM_000051.4(ATM):c.7588A>G (p.Lys2530Glu)	472	ATM	Uncertain significance	2086231222	RCV001220330;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202243	108202243	11:g.108202243A>G	-
NM_000051.4(ATM):c.7592T>C (p.Met2531Thr)	472	ATM	Conflicting interpretations of pathogenicity	587781365	RCV000129166\|RCV000195721\|RCV000656762\|RCV001192416\|RCV003415942\|RCV003460890;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202247	108202247	11:g.108202247T>C	ClinGen:CA293988	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7592T>G (p.Met2531Arg)	472	ATM	Uncertain significance	587781365	RCV001318770;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202247	108202247	108202247	-
NM_000051.4(ATM):c.7593G>A (p.Met2531Ile)	472	ATM	Uncertain significance	786203764	RCV000167211\|RCV000235970\|RCV000684945;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202248	108202248	11:g.108202248G>A	ClinGen:CA197744	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7594A>G (p.Met2532Val)	472	ATM	Uncertain significance	2136496697	RCV001956770\|RCV002388946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202249	108202249	108202249	-
NM_000051.4(ATM):c.7595T>C (p.Met2532Thr)	472	ATM	Uncertain significance	765654550	RCV000988723;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202250	108202250	11:g.108202250T>C	-
NM_000051.4(ATM):c.7596G>A (p.Met2532Ile)	472	ATM	Uncertain significance	587781854	RCV000130160\|RCV000485002\|RCV001314694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202251	108202251	11:g.108202251G>A	ClinGen:CA165837	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7598G>A (p.Gly2533Glu)	472	ATM	Uncertain significance	864622688	RCV000206717\|RCV000216243\|RCV001762447;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108202253	108202253	NC_000011.9:g.108202253G>A	ClinGen:CA350716	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7599A>G (p.Gly2533=)	472	ATM	Likely benign	2136497122	RCV001786195\|RCV002074082;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202254	108202254		-
NM_000051.4(ATM):c.7599del (p.Gly2534fs)	472	ATM	Pathogenic	2136497216	RCV001996963;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202254	108202254	108202253	-
NM_000051.4(ATM):c.7603dup (p.Leu2535fs)	472	ATM	Pathogenic	2136497534	RCV001946786;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202256	108202257	108202256	-
NM_000051.4(ATM):c.7602C>T (p.Gly2534=)	472	ATM	Likely benign	562264493	RCV000221285\|RCV000556680\|RCV001798720;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108202257	108202257		ClinGen:CA6266144	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7605A>G (p.Leu2535=)	472	ATM	Likely benign	1591167954	RCV001447965\|RCV002390988;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202260	108202260		-
NM_000051.4(ATM):c.7606G>T (p.Gly2536Ter)	472	ATM	Pathogenic	2136497891	RCV001958726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202261	108202261	108202261	-
NM_000051.4(ATM):c.7607G>C (p.Gly2536Ala)	472	ATM	Uncertain significance	2136497972	RCV001902192;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202262	108202262	108202262	-
NM_000051.4(ATM):c.7608del (p.His2538fs)	472	ATM	Pathogenic	1565532554	RCV000689167;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202263	108202263	NC_000011.9:g.108202263del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7609T>C (p.Phe2537Leu)	472	ATM	Uncertain significance	2086234277	RCV001962024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202264	108202264	108202264	-
NM_000051.4(ATM):c.7614T>G (p.His2538Gln)	472	ATM	Uncertain significance	2086234461	RCV001066229;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202269	108202269	11:g.108202269T>G	-
NM_000051.4(ATM):c.7616A>G (p.Glu2539Gly)	472	ATM	Uncertain significance	-1	RCV003024338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202271	108202271	NC_000011.9:g.108202271A>G	-
NM_000051.4(ATM):c.7617A>C (p.Glu2539Asp)	472	ATM	Uncertain significance	1591168001	RCV000806740\|RCV002390611;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202272	108202272	11:g.108202272A>C	-
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile)	472	ATM	Conflicting interpretations of pathogenicity	35203200	RCV000130162\|RCV000167957\|RCV000236319\|RCV000779778\|RCV001798442\|RCV003474759;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202273	108202273	11:g.108202273G>A	ClinGen:CA165843	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7620C>A (p.Val2540=)	472	ATM	Benign/Likely benign	863224298	RCV000198887\|RCV000218293\|RCV001594869;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108202275	108202275		ClinGen:CA338264	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7620C>T (p.Val2540=)	472	ATM	Likely benign	863224298	RCV000582522\|RCV000628265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202275	108202275		ClinGen:CA476677084	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7621C>T (p.Leu2541Phe)	472	ATM	Uncertain significance	1565532615	RCV000685925\|RCV001026633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202276	108202276	NC_000011.9:g.108202276C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7623C>T (p.Leu2541=)	472	ATM	Likely benign	2086235791	RCV001179430\|RCV001484368;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202278	108202278		-
NM_000051.4(ATM):c.7625A>G (p.Asn2542Ser)	472	ATM	Uncertain significance	2086236181	RCV001234116\|RCV002393587;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202280	108202280	11:g.108202280A>G	-
NM_000051.4(ATM):c.7629_7629+4del	472	ATM	Pathogenic/Likely pathogenic	876660041	RCV000219911\|RCV000476426\|RCV002465574\|RCV003469060;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202281	108202285	11:g.108202281_108202285del	ClinGen:CA6266145	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7626T>A (p.Asn2542Lys)	472	ATM	Uncertain significance	1555124134	RCV000628089\|RCV001026634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202281	108202281	11:g.108202281T>A	ClinGen:CA382560866	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7626T>C (p.Asn2542=)	472	ATM	Likely benign	-1	RCV002847396;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202281	108202281		-
NM_000051.4(ATM):c.7629T>C (p.Asn2543=)	472	ATM	Likely benign	767123895	RCV000433634\|RCV000569334\|RCV000807976;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202284	108202284		ClinGen:CA6266146	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7629+2dup	472	ATM	Uncertain significance	1555124141	RCV000673001;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202285	108202286	11:g.108202285_108202286insT	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7629+1G>A	472	ATM	Pathogenic/Likely pathogenic	1565532703	RCV000704900\|RCV001026637;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202285	108202285	NC_000011.9:g.108202285G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7629+2T>C	472	ATM	Conflicting interpretations of pathogenicity	786203059	RCV000166196\|RCV000236019\|RCV000697479\|RCV000762828\|RCV001171408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108202286	108202286	11:g.108202286T>C	ClinGen:CA195221	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7629+3A>C	472	ATM	Uncertain significance	752251778	RCV000215238\|RCV000537409;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202287	108202287	11:g.108202287A>C	ClinGen:CA6266147	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7629+9A>C	472	ATM	Likely benign	2136500176	RCV002189787;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202293	108202293	108202293	-
NM_000051.4(ATM):c.7629+12T>C	472	ATM	Likely benign	373731708	RCV000435600\|RCV001175893\|RCV002059898;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202296	108202296	11:g.108202296T>C	ClinGen:CA16606120	CN169374 not specified;
NM_000051.4(ATM):c.7629+12_7629+15del	472	ATM	Conflicting interpretations of pathogenicity	1555124156	RCV000583525\|RCV000709191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202296	108202299	11:g.108202296_108202299del	ClinGen:CA658683759	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7629+12T>G	472	ATM	Likely benign	-1	RCV003005672;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202296	108202296	NC_000011.9:g.108202296T>G	-
NM_000051.4(ATM):c.7629+14A>G	472	ATM	Likely benign	2136500635	RCV002205208;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202298	108202298	108202298	-
NM_000051.4(ATM):c.7629+14A>C	472	ATM	Likely benign	-1	RCV002601715;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202298	108202298	NC_000011.9:g.108202298A>C	-
NM_000051.4(ATM):c.7629+20A>C	472	ATM	Likely benign	2086239323	RCV002207813;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202304	108202304	108202304	-
NM_000051.4(ATM):c.7629+146A>G	472	ATM	Likely benign	769608929	RCV001505323\|RCV002258294;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202430	108202430	108202430	-
NM_000051.4(ATM):c.7630-37G>T	472	ATM	Benign	1591170392	RCV000988724;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202569	108202569	11:g.108202569G>T	-
NM_000051.4(ATM):c.7630-29G>T	472	ATM	Benign	1591170490	RCV000988725;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202577	108202577	11:g.108202577G>T	-
NM_000051.4(ATM):c.7630-18A>G	472	ATM	Uncertain significance	1236081666	RCV001981750;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202588	108202588	108202588	-
NM_000051.4(ATM):c.7630-17_7630-16del	472	ATM	Uncertain significance	-1	RCV002731332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202588	108202589	NC_000011.9:g.108202589_108202590del	-
NM_000051.4(ATM):c.7630-17T>C	472	ATM	Benign/Likely benign	116047570	RCV000123714\|RCV000212073\|RCV001517746\|RCV001811990\|RCV002225395\|RCV003149849\|RCV003315831;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN221562\|MONDO:MONDO:00164	11	108202589	108202589	NC_000011.9:g.108202589T>C	ClinGen:CA289523	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7630-16_7630-10del	472	ATM	Likely benign	2136513424	RCV002074871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202589	108202595	108202588	-
NM_000051.4(ATM):c.7630-16A>G	472	ATM	Likely benign	2136513501	RCV002119864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202590	108202590	108202590	-
NM_000051.4(ATM):c.7630-16A>C	472	ATM	Uncertain significance	-1	RCV003017381;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202590	108202590	NC_000011.9:g.108202590A>C	-
NM_000051.4(ATM):c.7630-15G>T	472	ATM	Likely benign	773603597	RCV000437611\|RCV001191342\|RCV002065031;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202591	108202591	11:g.108202591G>T	ClinGen:CA6266167	CN169374 not specified;
NM_000051.4(ATM):c.7630-12C>G	472	ATM	Likely benign	911541230	RCV000582887\|RCV000604725\|RCV002061686;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202594	108202594	NC_000011.9:g.108202594C>G	ClinGen:CA228418670	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7630-12C>A	472	ATM	Likely benign	-1	RCV002751028;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202594	108202594	NC_000011.9:g.108202594C>A	-
NM_000051.4(ATM):c.7630-7C>A	472	ATM	Uncertain significance	730881276	RCV001850248\|RCV003128587;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202599	108202599	NC_000011.9:g.108202599C>A	ClinGen:CA297969	CN169374 not specified;
NM_000051.4(ATM):c.7630-7C>T	472	ATM	Likely benign	730881276	RCV000628275;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202599	108202599	11:g.108202599C>T	ClinGen:CA658797733	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7630-4A>G	472	ATM	Likely benign	1057523067	RCV000419890\|RCV002522435;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202602	108202602	11:g.108202602A>G	ClinGen:CA16606851	CN169374 not specified;
NM_000051.4(ATM):c.7630-3C>G	472	ATM	Conflicting interpretations of pathogenicity	587782448	RCV000131518\|RCV000538287\|RCV001566258;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202603	108202603	11:g.108202603C>G	ClinGen:CA168292	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7630-3C>T	472	ATM	Conflicting interpretations of pathogenicity	587782448	RCV000217123\|RCV000689792\|RCV001697248\|RCV003468995;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202603	108202603	11:g.108202603C>T	ClinGen:CA10579265	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7630-2A>C	472	ATM	Pathogenic	587779866	RCV000115253\|RCV000206201\|RCV000212074\|RCV000515371\|RCV001253391\|RCV001270954\|RCV002463639\|RCV003319320;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108202604	108202604	NC_000011.9:g.108202604A>C	ClinGen:CA286993	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7630-2A>G	472	ATM	Pathogenic/Likely pathogenic	587779866	RCV000484828\|RCV000493469\|RCV000525719;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202604	108202604	11:g.108202604A>G	ClinGen:CA16619236	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7630-1G>A	472	ATM	Pathogenic/Likely pathogenic	2086285148	RCV001245396\|RCV002393650\|RCV003469471;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202605	108202605	11:g.108202605G>A	-
NM_000051.4(ATM):c.7631T>C (p.Leu2544Pro)	472	ATM	Uncertain significance	1555124459	RCV000550900\|RCV000565747;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202607	108202607	NC_000011.9:g.108202607T>C	ClinGen:CA382560888	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7631del (p.Leu2544fs)	472	ATM	Pathogenic	1591171040	RCV000802290;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202607	108202607	11:g.108202607_108202607del	-
NM_000051.4(ATM):c.7632A>C (p.Leu2544=)	472	ATM	Likely benign	1363431568	RCV002206352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202608	108202608		-
NM_000051.4(ATM):c.7632A>G (p.Leu2544=)	472	ATM	Likely benign	-1	RCV003012501;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202608	108202608		-
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del)	472	ATM	Pathogenic/Likely pathogenic	587776547	RCV000003163\|RCV000185637\|RCV000206671\|RCV000212075\|RCV000417362\|RCV000709706\|RCV001355331\|RCV001797988\|RCV003389662;	N	MONDO:MONDO:0019468,MedGen:C2363142, Orphanet:86871\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|Human Phenotype Ontology:HP:0010623,Human Phenotype Ontology	11	108202612	108202620	NC_000011.9:g.108202614_108202622del	OMIM:607585.0007,OMIM:607585.0002,ClinGen:CA115924	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7639A>G (p.Arg2547Gly)	472	ATM	Uncertain significance	1565533544	RCV000687944;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202615	108202615	11:g.108202615A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7640G>T (p.Arg2547Ile)	472	ATM	Uncertain significance	2136515485	RCV001980193;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202616	108202616	108202616	-
NM_000051.4(ATM):c.7645T>C (p.Ser2549Pro)	472	ATM	Uncertain significance	-1	RCV002396374\|RCV003103424;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202621	108202621	108202621	-
NM_000051.4(ATM):c.7647A>T (p.Ser2549=)	472	ATM	Likely benign	1591171175	RCV000943602\|RCV001191074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202623	108202623		-
NM_000051.4(ATM):c.7648A>G (p.Met2550Val)	472	ATM	Uncertain significance	878853545	RCV000232658\|RCV000564111;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202624	108202624	NC_000011.9:g.108202624A>G	ClinGen:CA10582855	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7648A>C (p.Met2550Leu)	472	ATM	Uncertain significance	878853545	RCV000464306\|RCV002393113;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202624	108202624	NC_000011.9:g.108202624A>C	ClinGen:CA16613129	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7650G>T (p.Met2550Ile)	472	ATM	Uncertain significance	1565533594	RCV000694305;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202626	108202626	11:g.108202626G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7651G>A (p.Asp2551Asn)	472	ATM	Uncertain significance	2086287943	RCV001232620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202627	108202627	11:g.108202627G>A	-
NM_000051.4(ATM):c.7651G>C (p.Asp2551His)	472	ATM	Uncertain significance	-1	RCV002396405\|RCV003103426;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202627	108202627	108202627	-
NM_000051.4(ATM):c.7652A>G (p.Asp2551Gly)	472	ATM	Uncertain significance	1565533613	RCV000704727\|RCV001026668\|RCV001766551\|RCV002477625;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108202628	108202628	NC_000011.9:g.108202628A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7654C>A (p.His2552Asn)	472	ATM	Uncertain significance	786202174	RCV000164866\|RCV000703395\|RCV001354738\|RCV001357301;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0002108,MedGen:C0007115	11	108202630	108202630	11:g.108202630C>A	ClinGen:CA191960	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7655_7656insGA (p.His2552fs)	472	ATM	Pathogenic	1565533629	RCV000693827;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202630	108202631	11:g.108202630_108202631insAG	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7654C>T (p.His2552Tyr)	472	ATM	Uncertain significance	786202174	RCV001979178\|RCV002388949;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202630	108202630	108202630	-
NM_000051.4(ATM):c.7656C>A (p.His2552Gln)	472	ATM	Uncertain significance	1555124473	RCV000527029\|RCV002395266;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202632	108202632	11:g.108202632C>A	ClinGen:CA382560943	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7656C>T (p.His2552=)	472	ATM	Likely benign	1555124473	RCV000936877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202632	108202632		-
NM_000051.4(ATM):c.7660del (p.His2554fs)	472	ATM	Pathogenic	2086289400	RCV001050325;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202632	108202632	11:g.108202632_108202632del	-
NM_000051.4(ATM):c.7657C>A (p.Pro2553Thr)	472	ATM	Uncertain significance	1555124475	RCV000563320\|RCV000703781;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202633	108202633	NC_000011.9:g.108202633C>A	ClinGen:CA382560945	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7657C>G (p.Pro2553Ala)	472	ATM	Uncertain significance	-1	RCV002396416\|RCV003099707;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202633	108202633	108202633	-
NM_000051.4(ATM):c.7658C>A (p.Pro2553His)	472	ATM	Uncertain significance	864622368	RCV000204693\|RCV000571765\|RCV001798685;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562	11	108202634	108202634	NC_000011.9:g.108202634C>A	ClinGen:CA348900	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7658C>T (p.Pro2553Leu)	472	ATM	Uncertain significance	864622368	RCV000205582\|RCV001026670;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202634	108202634	11:g.108202634C>T	ClinGen:CA349716	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7659C>T (p.Pro2553=)	472	ATM	Likely benign	1591171386	RCV001026672\|RCV002551976;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202635	108202635		-
NM_000051.4(ATM):c.7660C>T (p.His2554Tyr)	472	ATM	Uncertain significance	1555124482	RCV000628051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202636	108202636	11:g.108202636C>T	ClinGen:CA382560951	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7661A>T (p.His2554Leu)	472	ATM	Uncertain significance	1555124487	RCV000574320\|RCV000693499;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202637	108202637	NC_000011.9:g.108202637A>T	ClinGen:CA382560952	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7661A>G (p.His2554Arg)	472	ATM	Uncertain significance	1555124487	RCV001049366;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202637	108202637	11:g.108202637A>G	-
NM_000051.4(ATM):c.7664A>G (p.His2555Arg)	472	ATM	Uncertain significance	876658925	RCV000214254\|RCV001222431\|RCV001770175;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202640	108202640	11:g.108202640A>G	ClinGen:CA10579266	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7665delinsGTGA (p.His2555delinsGlnTer)	472	ATM	Pathogenic	1555124503	RCV000540205\|RCV000575090\|RCV003470686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202641	108202641	11:g.108202641_108202642insTGA	ClinGen:CA658656297	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7665C>T (p.His2555=)	472	ATM	Likely benign	908781160	RCV001488230;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202641	108202641		-
NM_000051.4(ATM):c.7666_7684del (p.Thr2556fs)	472	ATM	Pathogenic	2136518319	RCV001388469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202642	108202660	108202641	-
NM_000051.4(ATM):c.7667C>A (p.Thr2556Asn)	472	ATM	Uncertain significance	1226186392	RCV000576131\|RCV001209165;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202643	108202643	11:g.108202643C>A	ClinGen:CA382560966	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7667C>G (p.Thr2556Ser)	472	ATM	Uncertain significance	-1	RCV003052316;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202643	108202643	NC_000011.9:g.108202643C>G	-
NM_000051.4(ATM):c.7671_7674del (p.Phe2558fs)	472	ATM	Pathogenic	1555124506	RCV000628056\|RCV001026690\|RCV003162773\|RCV003465374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:0016419,MedGen:C03	11	108202644	108202647	NC_000011.9:g.108202647_108202650del	ClinGen:CA658797736	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7669_7670del (p.Leu2557fs)	472	ATM	Pathogenic	1565533778	RCV000684851\|RCV002388192\|RCV003155955;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202644	108202645	NC_000011.9:g.108202645_108202646del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7670del (p.Leu2557fs)	472	ATM	Pathogenic	1565533778	RCV001387427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202644	108202644	108202643	-
NM_000051.4(ATM):c.7670T>A (p.Leu2557Ter)	472	ATM	Pathogenic	2086293039	RCV001232125;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202646	108202646	11:g.108202646T>A	-
NM_000051.4(ATM):c.7670T>G (p.Leu2557Trp)	472	ATM	Uncertain significance	2086293039	RCV001364089\|RCV001773723\|RCV003399168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|	11	108202646	108202646	108202646	-
NM_000051.4(ATM):c.7671G>C (p.Leu2557Phe)	472	ATM	Uncertain significance	2086293337	RCV001313860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202647	108202647	108202647	-
NM_000051.4(ATM):c.7674TAT[1] (p.Ile2560del)	472	ATM	Uncertain significance	1591171617	RCV001026697\|RCV001862379;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202649	108202651	11:g.108202649_108202651del	-
NM_000051.4(ATM):c.7674_7686delinsA (p.Phe2558_Ala2562delinsLeu)	472	ATM	Uncertain significance	2086293945	RCV001048550;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202650	108202662	11:g.108202651_108202662del	-
NM_000051.4(ATM):c.7674T>C (p.Phe2558=)	472	ATM	Likely benign	1291388225	RCV001397820;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202650	108202650		-
NM_000051.4(ATM):c.7676_7680del (p.Ile2559fs)	472	ATM	Pathogenic	2136519174	RCV001864958;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202650	108202654	108202649	-
NM_000051.4(ATM):c.7675del (p.Ile2559fs)	472	ATM	Pathogenic	-1	RCV002972178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202651	108202651	NC_000011.9:g.108202651del	-
NM_000051.4(ATM):c.7677T>C (p.Ile2559=)	472	ATM	Likely benign	2136519388	RCV002209377;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202653	108202653		-
NM_000051.4(ATM):c.7679dup (p.Leu2561fs)	472	ATM	Pathogenic	2136519577	RCV001380188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202654	108202655	108202654	-
NM_000051.4(ATM):c.7679T>C (p.Ile2560Thr)	472	ATM	Uncertain significance	2086294390	RCV001220257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202655	108202655	11:g.108202655T>C	-
NM_000051.4(ATM):c.7681C>T (p.Leu2561=)	472	ATM	Likely benign	1060504314	RCV001463936\|RCV002402336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202657	108202657		ClinGen:CA16613431
NM_000051.4(ATM):c.7683G>C (p.Leu2561=)	472	ATM	Likely benign	2136519792	RCV001482153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202659	108202659		-
NM_000051.4(ATM):c.7684G>T (p.Ala2562Ser)	472	ATM	Uncertain significance	1555124521	RCV000822064\|RCV001026707;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202660	108202660	11:g.108202660G>T	-
NM_000051.4(ATM):c.7685C>A (p.Ala2562Asp)	472	ATM	Uncertain significance	1322308382	RCV000571056\|RCV000779781\|RCV001060917\|RCV002289827;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202661	108202661	NC_000011.9:g.108202661C>A	ClinGen:CA382561004	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7685C>G (p.Ala2562Gly)	472	ATM	Uncertain significance	1322308382	RCV001372910;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202661	108202661	108202661	-
NM_000051.4(ATM):c.7687T>G (p.Leu2563Val)	472	ATM	Uncertain significance	1208002418	RCV000533526\|RCV000580459\|RCV003403244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	11	108202663	108202663	11:g.108202663T>G	ClinGen:CA382561008	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7687T>A (p.Leu2563Ile)	472	ATM	Uncertain significance	1208002418	RCV001341516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202663	108202663	108202663	-
NM_000051.4(ATM):c.7688T>C (p.Leu2563Ser)	472	ATM	Uncertain significance	2136520333	RCV002012702;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202664	108202664	108202664	-
NM_000051.4(ATM):c.7688T>A (p.Leu2563Ter)	472	ATM	Pathogenic	-1	RCV003054282;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202664	108202664	NC_000011.9:g.108202664T>A	-
NM_000051.4(ATM):c.7690G>A (p.Ala2564Thr)	472	ATM	Uncertain significance	940285361	RCV000570379\|RCV000806122\|RCV001755923\|RCV003330799;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108202666	108202666	NC_000011.9:g.108202666G>A	ClinGen:CA228418719	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7690G>C (p.Ala2564Pro)	472	ATM	Uncertain significance	940285361	RCV002009061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202666	108202666	108202666	-
NM_000051.4(ATM):c.7694dup (p.Asn2565fs)	472	ATM	Pathogenic/Likely pathogenic	1591171790	RCV001026718\|RCV001383310\|RCV003316823;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202667	108202668	11:g.108202667_108202668insA	-
NM_000051.4(ATM):c.7693A>G (p.Asn2565Asp)	472	ATM	Uncertain significance	1555124543	RCV000541590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202669	108202669	11:g.108202669A>G	ClinGen:CA382561019	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7696G>A (p.Ala2566Thr)	472	ATM	Uncertain significance	1060501604	RCV000469096\|RCV000581078;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202672	108202672	NC_000011.9:g.108202672G>A	ClinGen:CA16613130	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7699_7702del (p.Asn2567fs)	472	ATM	Pathogenic/Likely pathogenic	1060501547	RCV000463805\|RCV000486343\|RCV001026721\|RCV003470415;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202673	108202676	NC_000011.9:g.108202675_108202678del	ClinGen:CA16613433	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7697C>G (p.Ala2566Gly)	472	ATM	Uncertain significance	2086297257	RCV001222848\|RCV002402687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202673	108202673	11:g.108202673C>G	-
NM_000051.4(ATM):c.7701_7702del (p.Asn2567fs)	472	ATM	Pathogenic	1064793359	RCV000485065\|RCV001390721;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202676	108202677	11:g.108202676_108202677del	ClinGen:CA16619237	CN517202 not provided;
NM_000051.4(ATM):c.7701C>T (p.Asn2567=)	472	ATM	Likely benign	786201637	RCV000164019\|RCV002517612;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202677	108202677		ClinGen:CA189809	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7705_7706del (p.Arg2568_Asp2569insTer)	472	ATM	Pathogenic/Likely pathogenic	759965045	RCV000204947\|RCV000214581\|RCV000478786\|RCV003165498\|RCV003468954;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:00	11	108202678	108202679	NC_000011.9:g.108202679GA[1]	ClinGen:CA334724	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7702A>G (p.Arg2568Gly)	472	ATM	Uncertain significance	2086298156	RCV001064776;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202678	108202678	11:g.108202678A>G	-
NM_000051.4(ATM):c.7703G>A (p.Arg2568Lys)	472	ATM	Uncertain significance	1591171915	RCV000800275;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202679	108202679	11:g.108202679G>A	-
NM_000051.4(ATM):c.7704A>T (p.Arg2568Ser)	472	ATM	Uncertain significance	2136521869	RCV002041965;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202680	108202680	108202680	-
NM_000051.4(ATM):c.7705G>A (p.Asp2569Asn)	472	ATM	Uncertain significance	898880638	RCV001064816;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202681	108202681	11:g.108202681G>A	-
NM_000051.4(ATM):c.7705G>C (p.Asp2569His)	472	ATM	Uncertain significance	898880638	RCV001068331;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202681	108202681	11:g.108202681G>C	-
NM_000051.4(ATM):c.7705del (p.Asp2569fs)	472	ATM	Pathogenic	2136522117	RCV001385546\|RCV002404900;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202681	108202681	108202680	-
NM_000051.4(ATM):c.7706del (p.Asp2569fs)	472	ATM	Pathogenic	2086299809	RCV001222811;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202682	108202682	11:g.108202682_108202682del	-
NM_000051.4(ATM):c.7707T>C (p.Asp2569=)	472	ATM	Likely benign	1183350500	RCV001403830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202683	108202683		-
NM_000051.4(ATM):c.7710A>G (p.Glu2570=)	472	ATM	Likely benign	760215505	RCV000628311\|RCV003302968;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202686	108202686		ClinGen:CA6266169
NM_000051.4(ATM):c.7711T>C (p.Phe2571Leu)	472	ATM	Uncertain significance	-1	RCV002302124\|RCV002400441;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202687	108202687	108202687	-
NM_000051.4(ATM):c.7712T>C (p.Phe2571Ser)	472	ATM	Uncertain significance	1555124612	RCV000563023\|RCV000628120;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202688	108202688	NC_000011.9:g.108202688T>C	ClinGen:CA382561064	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7714C>T (p.Leu2572=)	472	ATM	Likely benign	1472587727	RCV000566857\|RCV000614004\|RCV000935616;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202690	108202690		ClinGen:CA476677225	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7716G>C (p.Leu2572=)	472	ATM	Likely benign	763730344	RCV000553643\|RCV000562061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202692	108202692		ClinGen:CA6266170	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7719T>G (p.Thr2573=)	472	ATM	Likely benign	2136523339	RCV001401713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202695	108202695		-
NM_000051.4(ATM):c.7720A>C (p.Lys2574Gln)	472	ATM	Uncertain significance	1357229307	RCV000564161\|RCV000628197\|RCV001764651;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108202696	108202696	NC_000011.9:g.108202696A>C	ClinGen:CA382561079	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7724C>A (p.Pro2575Gln)	472	ATM	Uncertain significance	1591172186	RCV001026756\|RCV001345556;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202700	108202700	11:g.108202700C>A	-
NM_000051.4(ATM):c.7725del (p.Glu2576fs)	472	ATM	Pathogenic	-1	RCV003021369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202701	108202701	NC_000011.9:g.108202701del	-
NM_000051.4(ATM):c.7727A>G (p.Glu2576Gly)	472	ATM	Uncertain significance	1202657573	RCV000565504\|RCV001834822;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202703	108202703	NC_000011.9:g.108202703A>G	ClinGen:CA382561098	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7731A>G (p.Val2577=)	472	ATM	Likely benign	2136524528	RCV002177839\|RCV002398170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202707	108202707		-
NM_000051.4(ATM):c.7732G>A (p.Ala2578Thr)	472	ATM	Uncertain significance	1555124632	RCV001240694;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202708	108202708	11:g.108202708G>A	-
NM_000051.4(ATM):c.7734C>G (p.Ala2578=)	472	ATM	Likely benign	753442840	RCV001189371\|RCV001455294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202710	108202710		-
NM_000051.4(ATM):c.7734C>T (p.Ala2578=)	472	ATM	Likely benign	753442840	RCV001431576\|RCV002405010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202710	108202710		-
NM_000051.4(ATM):c.7737AAG[1] (p.Arg2580del)	472	ATM	Uncertain significance	1064795204	RCV000479155\|RCV001297218;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202711	108202713	NC_000011.9:g.108202713AAG[1]	ClinGen:CA16619239	CN169374 not specified;
NM_000051.4(ATM):c.7735A>C (p.Arg2579=)	472	ATM	Likely benign	2136524882	RCV002150984;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202711	108202711		-
NM_000051.4(ATM):c.7736G>C (p.Arg2579Thr)	472	ATM	Uncertain significance	879254206	RCV000236150\|RCV000569511\|RCV000691617;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202712	108202712	NC_000011.9:g.108202712G>C	ClinGen:CA10584369	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7739G>A (p.Arg2580Lys)	472	ATM	Uncertain significance	761790685	RCV000564504\|RCV001218403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202715	108202715	NC_000011.9:g.108202715G>A	ClinGen:CA6266172	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7739G>T (p.Arg2580Ile)	472	ATM	Uncertain significance	761790685	RCV001872887\|RCV003230706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108202715	108202715	108202715	-
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser)	472	ATM	Conflicting interpretations of pathogenicity	199915459	RCV000115254\|RCV000205594\|RCV000589821\|RCV000855570\|RCV003153367;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	11	108202716	108202716	NC_000011.9:g.108202716A>C	ClinGen:CA286994	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7743C>A (p.Ser2581Arg)	472	ATM	Uncertain significance	2086306575	RCV001296195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202719	108202719	108202719	-
NM_000051.4(ATM):c.7744A>G (p.Arg2582Gly)	472	ATM	Uncertain significance	750224234	RCV000484994\|RCV000529781\|RCV000576036\|RCV003476167;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202720	108202720	11:g.108202720A>G	ClinGen:CA6266173	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7744A>C (p.Arg2582=)	472	ATM	Likely benign	-1	RCV002988702;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202720	108202720		-
NM_000051.4(ATM):c.7760_7761insCAATAACTAAAAATGT (p.Val2587_Pro2588insAsnAsnTer)	472	ATM	Pathogenic	2136525978	RCV001384926;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202721	108202722	108202721	-
NM_000051.4(ATM):c.7746A>T (p.Arg2582Ser)	472	ATM	Uncertain significance	-1	RCV002645642;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202722	108202722	NC_000011.9:g.108202722A>T	-
NM_000051.4(ATM):c.7747A>C (p.Ile2583Leu)	472	ATM	Uncertain significance	-1	RCV002400794\|RCV003099732;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202723	108202723	108202723	-
NM_000051.4(ATM):c.7748T>A (p.Ile2583Lys)	472	ATM	Uncertain significance	2086307984	RCV001327451;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202724	108202724	108202724	-
NM_000051.4(ATM):c.7749A>T (p.Ile2583=)	472	ATM	Likely benign	2136526242	RCV001494498;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202725	108202725		-
NM_000051.4(ATM):c.7752T>C (p.Thr2584=)	472	ATM	Likely benign	2136526454	RCV001417371;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202728	108202728		-
NM_000051.4(ATM):c.7753A>G (p.Lys2585Glu)	472	ATM	Uncertain significance	2086308918	RCV001244042;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202729	108202729	11:g.108202729A>G	-
NM_000051.4(ATM):c.7753A>T (p.Lys2585Ter)	472	ATM	Pathogenic/Likely pathogenic	2086308918	RCV001382517\|RCV003469678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202729	108202729	108202729	-
NM_000051.4(ATM):c.7757A>G (p.Asn2586Ser)	472	ATM	Conflicting interpretations of pathogenicity	587778079	RCV000120158\|RCV000465515\|RCV000561937\|RCV000587034;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108202733	108202733	11:g.108202733A>G	ClinGen:CA157171	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7758T>G (p.Asn2586Lys)	472	ATM	Uncertain significance	2136526693	RCV001922765;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202734	108202734	108202734	-
NM_000051.4(ATM):c.7758T>C (p.Asn2586=)	472	ATM	Likely benign	2136526693	RCV002168262\|RCV002407345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202734	108202734		-
NM_000051.4(ATM):c.7759G>A (p.Val2587Met)	472	ATM	Uncertain significance	1285491916	RCV001026788\|RCV001365524;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202735	108202735	11:g.108202735G>A	-
NM_000051.4(ATM):c.7764dup (p.Lys2589Ter)	472	ATM	Pathogenic	1591172641	RCV000810428\|RCV001184406\|RCV003155962;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202739	108202740	11:g.108202739_108202740insT	-
NM_000051.4(ATM):c.7764T>A (p.Pro2588=)	472	ATM	Likely benign	1591172609	RCV001026792\|RCV001418154;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202740	108202740		-
NM_000051.4(ATM):c.7764del (p.Lys2589fs)	472	ATM	Pathogenic	-1	RCV002829736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202740	108202740	NC_000011.9:g.108202740del	-
NM_000051.4(ATM):c.7765A>G (p.Lys2589Glu)	472	ATM	Uncertain significance	876659557	RCV000216785\|RCV001853578;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202741	108202741	11:g.108202741A>G	ClinGen:CA10579268	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7767del (p.Lys2589fs)	472	ATM	Pathogenic/Likely pathogenic	1057517025	RCV000411122\|RCV002411274;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202741	108202741	11:g.108202741_108202741del	ClinGen:CA16041427	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7766A>G (p.Lys2589Arg)	472	ATM	Uncertain significance	878853546	RCV000227549\|RCV000567191;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202742	108202742	NC_000011.9:g.108202742A>G	ClinGen:CA10582856	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7768C>G (p.Gln2590Glu)	472	ATM	Uncertain significance	876659561	RCV000221942\|RCV001853580;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202744	108202744	11:g.108202744C>G	ClinGen:CA10579269	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7768C>T (p.Gln2590Ter)	472	ATM	Pathogenic	876659561	RCV000695615;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202744	108202744	11:g.108202744C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7769A>G (p.Gln2590Arg)	472	ATM	Uncertain significance	1555124706	RCV000574353\|RCV001834814;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202745	108202745	NC_000011.9:g.108202745A>G	ClinGen:CA382561183	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7770A>G (p.Gln2590=)	472	ATM	Conflicting interpretations of pathogenicity	864622437	RCV000203798\|RCV002408895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202746	108202746		ClinGen:CA348073	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7770A>C (p.Gln2590His)	472	ATM	Uncertain significance	-1	RCV002297985;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202746	108202746	108202746	-
NM_000051.4(ATM):c.7771A>C (p.Ser2591Arg)	472	ATM	Uncertain significance	2086312114	RCV001216414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202747	108202747	11:g.108202747A>C	-
NM_000051.4(ATM):c.7772G>A (p.Ser2591Asn)	472	ATM	Uncertain significance	730881319	RCV000159653\|RCV000574674\|RCV000685254;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202748	108202748	NC_000011.9:g.108202748G>A	ClinGen:CA298059	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7773C>T (p.Ser2591=)	472	ATM	Likely benign	1045232065	RCV001026798\|RCV001438149;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202749	108202749		-
NM_000051.4(ATM):c.7775C>G (p.Ser2592Cys)	472	ATM	Conflicting interpretations of pathogenicity	755009196	RCV000166355\|RCV000230322\|RCV000236197\|RCV002307425\|RCV003468780;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202751	108202751	11:g.108202751C>G	ClinGen:CA195635	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7775C>T (p.Ser2592Phe)	472	ATM	Uncertain significance	-1	RCV002299478;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202751	108202751	108202751	-
NM_000051.4(ATM):c.7777C>T (p.Gln2593Ter)	472	ATM	Pathogenic	781215442	RCV000581671\|RCV000628122;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202753	108202753	NC_000011.9:g.108202753C>T	ClinGen:CA6266176	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg)	472	ATM	Conflicting interpretations of pathogenicity	587779867	RCV000115255\|RCV000197623\|RCV000588147\|RCV001257470\|RCV002228249;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN169374	11	108202754	108202754	NC_000011.9:g.108202754A>G	ClinGen:CA286997	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7779G>A (p.Gln2593=)	472	ATM	Likely benign	770321620	RCV000195848\|RCV000575678\|RCV001812203\|RCV002228899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108202755	108202755		ClinGen:CA335991	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7782T>A (p.Leu2594=)	472	ATM	Likely benign	905474729	RCV000612713\|RCV001026807\|RCV001445821;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202758	108202758		ClinGen:CA228418791
NM_000051.4(ATM):c.7785T>C (p.Asp2595=)	472	ATM	Likely benign	34838175	RCV000122883\|RCV000220642\|RCV001704041;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108202761	108202761		ClinGen:CA332357	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7786G>A (p.Glu2596Lys)	472	ATM	Uncertain significance	1555124747	RCV000546936\|RCV001026808;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202762	108202762	NC_000011.9:g.108202762G>A	ClinGen:CA382561218	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7788G>A (p.Glu2596=)	472	ATM	Pathogenic/Likely pathogenic	587780639	RCV000122884\|RCV000159654\|RCV000217179\|RCV001255554\|RCV002505072\|RCV003155919;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:00	11	108202764	108202764		ClinGen:CA298062
NM_000051.4(ATM):c.7788G>T (p.Glu2596Asp)	472	ATM	Conflicting interpretations of pathogenicity	587780639	RCV000227156\|RCV003454687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202764	108202764	NC_000011.9:g.108202764G>T	ClinGen:CA10582857	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7788G>C (p.Glu2596Asp)	472	ATM	Conflicting interpretations of pathogenicity	587780639	RCV000674257\|RCV002406517\|RCV003332225\|RCV003316796;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108202764	108202764	11:g.108202764G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7788+1G>T	472	ATM	Likely pathogenic	1565534524	RCV000684980\|RCV001355283\|RCV003278986;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202765	108202765	11:g.108202765G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7788+1G>A	472	ATM	Likely pathogenic	1565534524	RCV001379761;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202765	108202765	108202765	-
NM_000051.4(ATM):c.7788+1G>C	472	ATM	Likely pathogenic	1565534524	RCV001970447\|RCV002407212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202765	108202765	108202765	-
NM_000051.4(ATM):c.7788+3A>G	472	ATM	Conflicting interpretations of pathogenicity	869312788	RCV000482677\|RCV000779769\|RCV001317104\|RCV001692142;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202767	108202767	11:g.108202767A>G	ClinGen:CA16619241	CN169374 not specified;
NM_000051.4(ATM):c.7788+4T>C	472	ATM	Uncertain significance	2136529910	RCV001913690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202768	108202768	108202768	-
NM_000051.4(ATM):c.7788+7G>A	472	ATM	Conflicting interpretations of pathogenicity	749610251	RCV000554985\|RCV000606073\|RCV000776302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108202771	108202771	11:g.108202771G>A	ClinGen:CA6266177	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7788+8G>T	472	ATM	Conflicting interpretations of pathogenicity	112775908	RCV000115256\|RCV000119166\|RCV000589845\|RCV000579980\|RCV001357795\|RCV001798326;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562	11	108202772	108202772	NC_000011.9:g.108202772G>T	ClinGen:CA287000	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7788+9A>G	472	ATM	Likely benign	1182105888	RCV000944437;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202773	108202773	11:g.108202773A>G	-
NM_000051.4(ATM):c.7788+10T>G	472	ATM	Likely benign	1555124759	RCV000584137\|RCV002529198;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202774	108202774	11:g.108202774T>G	ClinGen:CA658683764	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7788+10T>C	472	ATM	Likely benign	1555124759	RCV002174651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202774	108202774	108202774	-
NM_000051.4(ATM):c.7788+12A>T	472	ATM	Likely benign	1555124760	RCV000581598\|RCV002529199;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202776	108202776	11:g.108202776A>T	ClinGen:CA658683765	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7788+19C>T	472	ATM	Likely benign	201990371	RCV000583071\|RCV000616169\|RCV002061687;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202783	108202783	NC_000011.9:g.108202783C>T	ClinGen:CA6266178	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7788+19C>G	472	ATM	Conflicting interpretations of pathogenicity	201990371	RCV001187005\|RCV002559961;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202783	108202783	11:g.108202783C>G	-
NM_000051.4(ATM):c.7788+20G>A	472	ATM	Likely benign	775245736	RCV000584509\|RCV002061688;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202784	108202784	11:g.108202784G>A	ClinGen:CA6266180	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7788+20G>T	472	ATM	Likely benign	-1	RCV002856826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202784	108202784	NC_000011.9:g.108202784G>T	-
NM_000051.4(ATM):c.7789-29_7789-16del	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002409840\|RCV003099747;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203458	108203471	108203457	-
NM_000051.4(ATM):c.7789-15_7789-9del	472	ATM	Uncertain significance	-1	RCV003110612;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203466	108203472	NC_000011.9:g.108203467GTTTTTT[1]	-
NM_000051.4(ATM):c.7789-19_7789-16del	472	ATM	Uncertain significance	-1	RCV003087779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203468	108203471	NC_000011.9:g.108203470_108203473del	-
NM_000051.4(ATM):c.7789-19T>C	472	ATM	Likely benign	560800769	RCV001859433\|RCV001694188;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108203470	108203470	108203470	-
NM_000051.4(ATM):c.7789-16T>C	472	ATM	Likely benign	-1	RCV002612001;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203473	108203473	NC_000011.9:g.108203473T>C	-
NM_000051.4(ATM):c.7789-16T>G	472	ATM	Likely benign	-1	RCV002587213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203473	108203473	NC_000011.9:g.108203473T>G	-
NM_000051.4(ATM):c.7789-15G>C	472	ATM	Benign/Likely benign	781449587	RCV000582418\|RCV001672883\|RCV002061689;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203474	108203474	NC_000011.9:g.108203474G>C	ClinGen:CA6266192	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7789-15G>T	472	ATM	Benign	781449587	RCV000988726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203474	108203474	11:g.108203474G>T	-
NC_000011.10:g.(?_108332752)_(108354884_?)dup	472	ATM	Uncertain significance	-1	RCV001031345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203479	108225611	-1	-
NM_000051.4(ATM):c.7789-8A>T	472	ATM	Likely benign	1591177900	RCV000988727;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203481	108203481	11:g.108203481A>T	-
NM_000051.4(ATM):c.7789-4A>G	472	ATM	Conflicting interpretations of pathogenicity	2086401774	RCV001036713\|RCV002409367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203485	108203485	11:g.108203485A>G	-
NM_000051.4(ATM):c.7789-3T>G	472	ATM	Pathogenic/Likely pathogenic	864622185	RCV000206828\|RCV000562166\|RCV001310118\|RCV001270955\|RCV003326373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:CN221562\|MedGen:C3661900	11	108203486	108203486	11:g.108203486T>G	ClinGen:CA350818	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7789-3T>C	472	ATM	Uncertain significance	-1	RCV003017208;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203486	108203486	NC_000011.9:g.108203486T>C	-
NM_000051.4(ATM):c.7789-1G>A	472	ATM	Likely pathogenic	1591177953	RCV001379476\|RCV003355448;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203488	108203488	108203488	-
NM_000051.4(ATM):c.7789G>T (p.Asp2597Tyr)	472	ATM	Conflicting interpretations of pathogenicity	1555125212	RCV000673806\|RCV002406516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203489	108203489	11:g.108203489G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7789G>C (p.Asp2597His)	472	ATM	Uncertain significance	1555125212	RCV001348331;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203489	108203489	108203489	-
NM_000051.4(ATM):c.7792C>T (p.Arg2598Ter)	472	ATM	Pathogenic	138941496	RCV000256020\|RCV000564573\|RCV000705286\|RCV000763225\|RCV001731470\|RCV003463716\|RCV003165701;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108203492	108203492	11:g.108203492C>T	ClinGen:CA6266193	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7792del (p.Arg2598fs)	472	ATM	Pathogenic	1591178022	RCV000810046;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203492	108203492	11:g.108203492_108203492del	-
NM_000051.4(ATM):c.7793G>A (p.Arg2598Gln)	472	ATM	Uncertain significance	140263969	RCV000223451\|RCV000463904\|RCV001689753;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108203493	108203493	11:g.108203493G>A	ClinGen:CA6266194	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7794A>C (p.Arg2598=)	472	ATM	Likely benign	1555125220	RCV000604474\|RCV000927280\|RCV001026813;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203494	108203494		ClinGen:CA476677312	CN169374 not specified;
NM_000051.4(ATM):c.7796del (p.Thr2599fs)	472	ATM	Likely pathogenic	1555125223	RCV000665019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203496	108203496	11:g.108203496_108203496del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7796C>T (p.Thr2599Ile)	472	ATM	Uncertain significance	2086404569	RCV001223243\|RCV002411825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203496	108203496	11:g.108203496C>T	-
NM_000051.4(ATM):c.7797A>G (p.Thr2599=)	472	ATM	Likely benign	2086405045	RCV002187537;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203497	108203497		-
NM_000051.4(ATM):c.7798G>A (p.Glu2600Lys)	472	ATM	Uncertain significance	2086405495	RCV001348476;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203498	108203498	108203498	-
NM_000051.4(ATM):c.7800G>A (p.Glu2600=)	472	ATM	Likely benign	1591178097	RCV001441313\|RCV002409246;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203500	108203500		-
NM_000051.4(ATM):c.7804G>A (p.Ala2602Thr)	472	ATM	Uncertain significance	1555125227	RCV000574916\|RCV002526813;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203504	108203504	NC_000011.9:g.108203504G>A	ClinGen:CA382561267	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7808A>G (p.Asn2603Ser)	472	ATM	Conflicting interpretations of pathogenicity	150355232	RCV000195852\|RCV001357358\|RCV001818483\|RCV002408879\|RCV003153470\|RCV003325466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MedGen:C3661900	11	108203508	108203508	NC_000011.9:g.108203508A>G	ClinGen:CA335994	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7809T>C (p.Asn2603=)	472	ATM	Likely benign	2136562134	RCV002080858\|RCV002407396;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203509	108203509		-
NM_000051.4(ATM):c.7809T>A (p.Asn2603Lys)	472	ATM	Uncertain significance	-1	RCV002966530;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203509	108203509	NC_000011.9:g.108203509T>A	-
NM_000051.4(ATM):c.7813ATA[1] (p.Ile2606del)	472	ATM	Uncertain significance	786203830	RCV000167305\|RCV001238094;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203512	108203514	11:g.108203512_108203514del	ClinGen:CA197972	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7812A>T (p.Arg2604Ser)	472	ATM	Uncertain significance	1484346818	RCV000772788\|RCV001063624;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203512	108203512	NC_000011.9:g.108203512A>T	-
NM_000051.4(ATM):c.7814T>C (p.Ile2605Thr)	472	ATM	Uncertain significance	2136562632	RCV002021573;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203514	108203514	108203514	-
NM_000051.4(ATM):c.7816A>G (p.Ile2606Val)	472	ATM	Conflicting interpretations of pathogenicity	376824528	RCV000166765\|RCV000197716\|RCV000513206\|RCV000625763\|RCV002265647\|RCV002485035;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C000	11	108203516	108203516	11:g.108203516A>G	ClinGen:CA196681	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7818A>G (p.Ile2606Met)	472	ATM	Uncertain significance	1027959208	RCV000474353\|RCV000485307\|RCV000565171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203518	108203518	NC_000011.9:g.108203518A>G	ClinGen:CA16613132	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7819T>C (p.Cys2607Arg)	472	ATM	Conflicting interpretations of pathogenicity	1459650575	RCV000546599\|RCV000777212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203519	108203519	11:g.108203519T>C	ClinGen:CA382561300	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7819T>G (p.Cys2607Gly)	472	ATM	Uncertain significance	1459650575	RCV002012904;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203519	108203519	108203519	-
NM_000051.4(ATM):c.7821T>C (p.Cys2607=)	472	ATM	Likely benign	771607956	RCV001523869\|RCV002070292;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203521	108203521		-
NM_000051.4(ATM):c.7822A>G (p.Thr2608Ala)	472	ATM	Uncertain significance	2086408912	RCV001208957;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203522	108203522	11:g.108203522A>G	-
NM_000051.4(ATM):c.7825A>G (p.Ile2609Val)	472	ATM	Uncertain significance	779400418	RCV000486626\|RCV000559151\|RCV001026849;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203525	108203525	11:g.108203525A>G	ClinGen:CA6266196	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7826T>C (p.Ile2609Thr)	472	ATM	Uncertain significance	369846067	RCV000231040\|RCV000573136\|RCV003317161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108203526	108203526	NC_000011.9:g.108203526T>C	ClinGen:CA6266197	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7827C>T (p.Ile2609=)	472	ATM	Likely benign	768423205	RCV000628225\|RCV001523870;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203527	108203527		ClinGen:CA6266198	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7828A>C (p.Arg2610=)	472	ATM	Likely benign	-1	RCV002952928;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203528	108203528		-
NM_000051.4(ATM):c.7829G>C (p.Arg2610Thr)	472	ATM	Uncertain significance	2136563969	RCV001888832;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203529	108203529	108203529	-
NM_000051.4(ATM):c.7833T>C (p.Ser2611=)	472	ATM	Likely benign	2136564372	RCV001575060\|RCV002570802;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203533	108203533		-
NM_000051.4(ATM):c.7834A>C (p.Arg2612=)	472	ATM	Likely benign	1305691166	RCV000584431\|RCV002061690;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203534	108203534		ClinGen:CA476677383	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7834del (p.Arg2612fs)	472	ATM	Pathogenic	2086411154	RCV001246756\|RCV002411907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203534	108203534	11:g.108203534_108203534del	-
NM_000051.4(ATM):c.7838_7839dup (p.Pro2614fs)	472	ATM	Pathogenic/Likely pathogenic	730881293	RCV000159622\|RCV000470648\|RCV001026860\|RCV003467215;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203535	108203536	NC_000011.9:g.108203536GA[3]	ClinGen:CA298008	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7835G>A (p.Arg2612Lys)	472	ATM	Uncertain significance	138048269	RCV000456297\|RCV003319354;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108203535	108203535	NC_000011.9:g.108203535G>A	ClinGen:CA6266199	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7836G>A (p.Arg2612=)	472	ATM	Likely benign	761324887	RCV000535267\|RCV000567654;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203536	108203536		ClinGen:CA6266200	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7836G>C (p.Arg2612Ser)	472	ATM	Uncertain significance	761324887	RCV001995023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203536	108203536	108203536	-
NM_000051.4(ATM):c.7839A>T (p.Arg2613Ser)	472	ATM	Uncertain significance	-1	RCV002886223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203539	108203539	NC_000011.9:g.108203539A>T	-
NM_000051.4(ATM):c.7840C>T (p.Pro2614Ser)	472	ATM	Uncertain significance	1555125305	RCV000564605\|RCV002528969;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203540	108203540	NC_000011.9:g.108203540C>T	ClinGen:CA382561346	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7841C>A (p.Pro2614His)	472	ATM	Uncertain significance	769207177	RCV000573170\|RCV001061732;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203541	108203541	NC_000011.9:g.108203541C>A	ClinGen:CA382561348	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7841C>T (p.Pro2614Leu)	472	ATM	Uncertain significance	769207177	RCV000564217\|RCV001306294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203541	108203541	11:g.108203541C>T	ClinGen:CA6266201	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7843C>G (p.Gln2615Glu)	472	ATM	Uncertain significance	773159296	RCV000708658\|RCV000792860;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203543	108203543	11:g.108203543C>G	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7845G>T (p.Gln2615His)	472	ATM	Uncertain significance	-1	RCV003039462;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203545	108203545	NC_000011.9:g.108203545G>T	-
NM_000051.4(ATM):c.7846A>G (p.Met2616Val)	472	ATM	Uncertain significance	876658208	RCV000221185\|RCV000542754;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203546	108203546	11:g.108203546A>G	ClinGen:CA10579271	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7847T>C (p.Met2616Thr)	472	ATM	Uncertain significance	762765902	RCV000217366\|RCV001233269;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203547	108203547	11:g.108203547T>C	ClinGen:CA6266203	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7849G>T (p.Val2617Phe)	472	ATM	Uncertain significance	1555125331	RCV000582276\|RCV001860067;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203549	108203549	11:g.108203549G>T	ClinGen:CA382561366	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7850T>A (p.Val2617Asp)	472	ATM	Uncertain significance	-1	RCV002847886;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203550	108203550	NC_000011.9:g.108203550T>A	-
NM_000051.4(ATM):c.7852A>G (p.Arg2618Gly)	472	ATM	Uncertain significance	1057521185	RCV000559858\|RCV002413420;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203552	108203552	11:g.108203552A>G	ClinGen:CA382561371	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7853G>A (p.Arg2618Lys)	472	ATM	Uncertain significance	-1	RCV002299544;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203553	108203553	108203553	-
NM_000051.4(ATM):c.7854A>C (p.Arg2618Ser)	472	ATM	Uncertain significance	1565536250	RCV000695918;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203554	108203554	11:g.108203554A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7855A>G (p.Ser2619Gly)	472	ATM	Uncertain significance	2086416652	RCV001305063\|RCV001785809\|RCV003355373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203555	108203555	108203555	-
NM_000051.4(ATM):c.7858del (p.Val2620fs)	472	ATM	Pathogenic/Likely pathogenic	1555125349	RCV000570724\|RCV000780915;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203558	108203558	NC_000011.9:g.108203558del	ClinGen:CA658656302	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7858G>C (p.Val2620Leu)	472	ATM	Uncertain significance	1427723678	RCV001026878\|RCV001042524\|RCV003467692;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203558	108203558	11:g.108203558G>C	-
NM_000051.4(ATM):c.7858G>T (p.Val2620Phe)	472	ATM	Uncertain significance	1427723678	RCV001026879\|RCV001050743;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203558	108203558	11:g.108203558G>T	-
NM_000051.4(ATM):c.7860T>G (p.Val2620=)	472	ATM	Likely benign	1555125353	RCV000583788\|RCV002529200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203560	108203560		ClinGen:CA476677399	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7861G>C (p.Glu2621Gln)	472	ATM	Uncertain significance	1555125355	RCV000565308\|RCV001207415\|RCV002469202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108203561	108203561	NC_000011.9:g.108203561G>C	ClinGen:CA382561392	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7864G>A (p.Ala2622Thr)	472	ATM	Uncertain significance	2136567791	RCV001369368;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203564	108203564	108203564	-
NM_000051.4(ATM):c.7865C>G (p.Ala2622Gly)	472	ATM	Uncertain significance	766351395	RCV000167438\|RCV000469981\|RCV000480349\|RCV003474890;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203565	108203565	11:g.108203565C>G	ClinGen:CA198312	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7865C>T (p.Ala2622Val)	472	ATM	Pathogenic/Likely pathogenic	766351395	RCV000521492\|RCV001026887\|RCV001386702\|RCV003319205;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0002394,Human Phenotype Ontology:HP:0030051,Human Phenotype Ontology:HP:0040083,Med	11	108203565	108203565	11:g.108203565C>T	ClinGen:CA382561402	CN517202 not provided;
NM_000051.4(ATM):c.7867C>G (p.Leu2623Val)	472	ATM	Uncertain significance	774118570	RCV000791990\|RCV001026889;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203567	108203567	11:g.108203567C>G	-
NM_000051.4(ATM):c.7867C>A (p.Leu2623Ile)	472	ATM	Uncertain significance	774118570	RCV001180350\|RCV001875983;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203567	108203567	11:g.108203567C>A	-
NM_000051.4(ATM):c.7871G>C (p.Cys2624Ser)	472	ATM	Uncertain significance	759392666	RCV000696595\|RCV001026894\|RCV001798962;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562	11	108203571	108203571	11:g.108203571G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7874A>C (p.Asp2625Ala)	472	ATM	Uncertain significance	876660121	RCV000222168\|RCV001833226\|RCV003469063;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203574	108203574	11:g.108203574A>C	ClinGen:CA10579272	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7874A>G (p.Asp2625Gly)	472	ATM	Uncertain significance	876660121	RCV001870624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203574	108203574	108203574	-
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro)	472	ATM	Pathogenic/Likely pathogenic	267606668	RCV000132184\|RCV000202436\|RCV000679143\|RCV003333722;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203575	108203576	NC_000011.9:g.108203575_108203576delinsGC	ClinGen:CA211317,OMIM:607585.0013	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7875T>G (p.Asp2625Glu)	472	ATM	Pathogenic	1196903858	RCV000988728;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203575	108203575	11:g.108203575T>G	-
NM_000051.4(ATM):c.7876G>C (p.Ala2626Pro)	472	ATM	Pathogenic	267606669	RCV000988729;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203576	108203576	11:g.108203576G>C	-
NM_000051.4(ATM):c.7877C>T (p.Ala2626Val)	472	ATM	Uncertain significance	1555125394	RCV000579395\|RCV001213875;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203577	108203577	NC_000011.9:g.108203577C>T	ClinGen:CA382561427	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs)	472	ATM	Pathogenic/Likely pathogenic	1450394308	RCV000003171\|RCV000222650\|RCV000483952\|RCV001030602\|RCV003165556\|RCV003468994;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0	11	108203578	108203582	11:g.108203578_108203582del	ClinGen:CA252539,OMIM:607585.0015	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7878T>G (p.Ala2626=)	472	ATM	Likely benign	2086422316	RCV001429757;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203578	108203578		-
NM_000051.4(ATM):c.7879T>C (p.Tyr2627His)	472	ATM	Conflicting interpretations of pathogenicity	2086422796	RCV001090200\|RCV001862671;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203579	108203579	11:g.108203579T>C	-
NM_000051.4(ATM):c.7880A>G (p.Tyr2627Cys)	472	ATM	Conflicting interpretations of pathogenicity	767670019	RCV000204776\|RCV000567581;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203580	108203580	11:g.108203580A>G	ClinGen:CA348974	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7880del (p.Tyr2627fs)	472	ATM	Pathogenic/Likely pathogenic	1057516599	RCV000409111\|RCV000657502\|RCV001026909\|RCV003470327;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203580	108203580	NC_000011.9:g.108203580del	ClinGen:CA16041428	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7880A>C (p.Tyr2627Ser)	472	ATM	Uncertain significance	-1	RCV003091199;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203580	108203580	NC_000011.9:g.108203580A>C	-
NM_000051.4(ATM):c.7882A>G (p.Ile2628Val)	472	ATM	Uncertain significance	587781370	RCV000129183\|RCV001226656;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203582	108203582	11:g.108203582A>G	ClinGen:CA163917	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7882A>C (p.Ile2628Leu)	472	ATM	Uncertain significance	587781370	RCV000699898\|RCV002406616;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203582	108203582	11:g.108203582A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7887A>G (p.Ile2629Met)	472	ATM	Uncertain significance	752886000	RCV000563057\|RCV001058181\|RCV001558673;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108203587	108203587	NC_000011.9:g.108203587A>G	ClinGen:CA6266206	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7888T>G (p.Leu2630Val)	472	ATM	Uncertain significance	1555125427	RCV000548687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203588	108203588	11:g.108203588T>G	ClinGen:CA382561448	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7888T>A (p.Leu2630Ile)	472	ATM	Uncertain significance	1555125427	RCV001026913\|RCV001204472;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203588	108203588	11:g.108203588T>A	-
NM_000051.4(ATM):c.7889T>A (p.Leu2630Ter)	472	ATM	Pathogenic	1591178998	RCV000823141;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203589	108203589	11:g.108203589T>A	-
NM_000051.4(ATM):c.7890A>G (p.Leu2630=)	472	ATM	Likely benign	756181210	RCV000570767\|RCV000628220;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203590	108203590		ClinGen:CA6266207	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7896C>G (p.Asn2632Lys)	472	ATM	Uncertain significance	1591179036	RCV001211001\|RCV002418717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203596	108203596	11:g.108203596C>G	-
NM_000051.4(ATM):c.7897T>G (p.Leu2633Val)	472	ATM	Uncertain significance	587779868	RCV000115257\|RCV000475783\|RCV002415591;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203597	108203597	NC_000011.9:g.108203597T>G	ClinGen:CA287001	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7899A>G (p.Leu2633=)	472	ATM	Likely benign	2086426925	RCV001186843\|RCV001408384\|RCV001799045;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562	11	108203599	108203599		-
NM_000051.4(ATM):c.7901A>T (p.Asp2634Val)	472	ATM	Uncertain significance	876660909	RCV000214199\|RCV000538011;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203601	108203601	11:g.108203601A>T	ClinGen:CA10579273	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7902T>G (p.Asp2634Glu)	472	ATM	Uncertain significance	373147078	RCV000204200\|RCV000575804\|RCV003417745;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	11	108203602	108203602	11:g.108203602T>G	ClinGen:CA348440	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7904C>G (p.Ala2635Gly)	472	ATM	Uncertain significance	754002355	RCV000550643\|RCV000562052\|RCV001030603\|RCV003470687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203604	108203604	11:g.108203604C>G	ClinGen:CA382561483	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7905C>T (p.Ala2635=)	472	ATM	Likely benign	757829783	RCV000561940\|RCV000628211;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203605	108203605		ClinGen:CA6266209	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7911G>A (p.Gln2637=)	472	ATM	Likely benign	2136572151	RCV001499948;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203611	108203611		-
NM_000051.4(ATM):c.7911G>T (p.Gln2637His)	472	ATM	Uncertain significance	2136572151	RCV002019829;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203611	108203611	108203611	-
NM_000051.4(ATM):c.7912T>G (p.Trp2638Gly)	472	ATM	Uncertain significance	563137460	RCV000217815\|RCV000235518\|RCV000764947\|RCV000700670;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108203612	108203612	11:g.108203612T>G	ClinGen:CA6266210	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter)	472	ATM	Pathogenic/Likely pathogenic	377349459	RCV000129649\|RCV000169621\|RCV000212077\|RCV000768151\|RCV002251994\|RCV003460899;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108203613	108203613	11:g.108203613G>A	ClinGen:CA294097	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7914G>T (p.Trp2638Cys)	472	ATM	Conflicting interpretations of pathogenicity	758843096	RCV000467501\|RCV000569832;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203614	108203614	NC_000011.9:g.108203614G>T	ClinGen:CA6266211	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7915A>T (p.Lys2639Ter)	472	ATM	Pathogenic	2136572656	RCV001917093;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203615	108203615	108203615	-
NM_000051.4(ATM):c.7917G>A (p.Lys2639=)	472	ATM	Likely benign	1555125501	RCV000628256;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203617	108203617		ClinGen:CA476677473	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7917G>C (p.Lys2639Asn)	472	ATM	Uncertain significance	1555125501	RCV000988730;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203617	108203617	11:g.108203617G>C	-
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile)	472	ATM	Conflicting interpretations of pathogenicity	4988125	RCV000120159\|RCV000130402\|RCV000168144\|RCV000586791\|RCV001355591\|RCV003325183;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108203619	108203619	11:g.108203619C>T	ClinGen:CA157174,UniProtKB:Q13315#VAR_056691	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7921C>T (p.Gln2641Ter)	472	ATM	Pathogenic/Likely pathogenic	769523686	RCV000574436\|RCV000628076\|RCV000657754\|RCV003465192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203621	108203621	11:g.108203621C>T	ClinGen:CA6266213	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7921C>G (p.Gln2641Glu)	472	ATM	Uncertain significance	769523686	RCV001992357;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203621	108203621	108203621	-
NM_000051.4(ATM):c.7926A>C (p.Arg2642Ser)	472	ATM	Conflicting interpretations of pathogenicity	863224440	RCV000197870\|RCV000215938\|RCV000420030\|RCV001250432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203626	108203626	NC_000011.9:g.108203626A>C	ClinGen:CA337507	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7926A>T (p.Arg2642Ser)	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002635439\|RCV003308193;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203626	108203626	NC_000011.9:g.108203626A>T	-
NM_000051.4(ATM):c.7927+1_7927+2dup	472	ATM	Uncertain significance	2086432329	RCV001318931;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203627	108203628	108203627	-
NM_000051.4(ATM):c.7927+1G>C	472	ATM	Likely pathogenic	1555125532	RCV000627920;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203628	108203628	11:g.108203628G>C	ClinGen:CA382561532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7927+1G>A	472	ATM	Likely pathogenic	1555125532	RCV001222651\|RCV002418766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203628	108203628	11:g.108203628G>A	-
NM_000051.4(ATM):c.7927+2T>G	472	ATM	Likely pathogenic	2086432758	RCV001215787;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203629	108203629	11:g.108203629T>G	-
NM_000051.4(ATM):c.7927+2T>C	472	ATM	Likely pathogenic	-1	RCV002872639;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203629	108203629	NC_000011.9:g.108203629T>C	-
NM_000051.4(ATM):c.7927+3A>G	472	ATM	Uncertain significance	-1	RCV002872367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203630	108203630	NC_000011.9:g.108203630A>G	-
NM_000051.4(ATM):c.7927+4del	472	ATM	Uncertain significance	2086433771	RCV001202192;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203631	108203631	11:g.108203631_108203631del	-
NM_000051.4(ATM):c.7927+4T>C	472	ATM	Uncertain significance	1335862267	RCV001368386\|RCV002420819;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203631	108203631	108203631	-
NM_000051.4(ATM):c.7927+13dup	472	ATM	Benign/Likely benign	587781324	RCV000129065\|RCV000679144\|RCV001080944\|RCV001354994\|RCV001818300;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517\|MedGen:CN169374	11	108203632	108203633	11:g.108203632_108203633insT	ClinGen:CA293950	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7927+5del	472	ATM	Conflicting interpretations of pathogenicity	786204437	RCV000169058\|RCV000570113;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203632	108203632	NC_000011.9:g.108203632del	ClinGen:CA273903	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7927+5G>A	472	ATM	Uncertain significance	1299306446	RCV000780897\|RCV000797163\|RCV002422670;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203632	108203632	NC_000011.9:g.108203632G>A	-
NM_000051.4(ATM):c.7927+5G>T	472	ATM	Uncertain significance	1299306446	RCV001056815;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203632	108203632	11:g.108203632G>T	-
NM_000051.4(ATM):c.7927+13del	472	ATM	Benign/Likely benign	587781324	RCV000486213\|RCV000580897\|RCV002063808;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203633	108203633	11:g.108203633_108203633del	ClinGen:CA6266215	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7927+6T>G	472	ATM	Uncertain significance	1591179460	RCV000821222\|RCV003467506;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108203633	108203633	11:g.108203633T>G	-
NM_000051.4(ATM):c.7927+10T>C	472	ATM	Benign/Likely benign	730881277	RCV000159596\|RCV000198055\|RCV000582584;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108203637	108203637	NC_000011.9:g.108203637T>C	ClinGen:CA297970	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7927+12T>C	472	ATM	Likely benign	-1	RCV003038909;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203639	108203639	NC_000011.9:g.108203639T>C	-
NM_000051.4(ATM):c.7927+13T>A	472	ATM	Likely benign	748853277	RCV000431437\|RCV001176541\|RCV002059639;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203640	108203640	11:g.108203640T>A	ClinGen:CA6266216	CN169374 not specified;
NM_000051.4(ATM):c.7927+14A>G	472	ATM	Likely benign	770850205	RCV000584032\|RCV002061691;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203641	108203641	11:g.108203641A>G	ClinGen:CA658683770	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7927+14A>C	472	ATM	Likely benign	770850205	RCV002141584;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203641	108203641	108203641	-
NM_000051.4(ATM):c.7927+16A>C	472	ATM	Likely benign	746438364	RCV000771934\|RCV002067240;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203643	108203643	NC_000011.9:g.108203643A>C	-
NM_000051.4(ATM):c.7927+20G>T	472	ATM	Likely benign	-1	RCV002918686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108203647	108203647	NC_000011.9:g.108203647G>T	-
NM_000051.4(ATM):c.7928-10T>C	472	ATM	Conflicting interpretations of pathogenicity	188404773	RCV000115258\|RCV000588523\|RCV000776053\|RCV001083708\|RCV001357331;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108204603	108204603	NC_000011.9:g.108204603T>C	ClinGen:CA287004	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7928-10T>G	472	ATM	Uncertain significance	188404773	RCV000628074\|RCV001355977\|RCV001771843;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015278,MedGen:C2931038, Orphanet:1333\|MedGen:C3661900	11	108204603	108204603	11:g.108204603T>G	ClinGen:CA601727258	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108204603)_(108204705_?)del	472	ATM	Pathogenic	-1	RCV001381459;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204603	108204705	-1	-
NM_000051.4(ATM):c.7928-9T>C	472	ATM	Likely benign	1060504261	RCV001505342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204604	108204604	NC_000011.9:g.108204604T>C	ClinGen:CA16613436	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7928-8A>G	472	ATM	Uncertain significance	2086542058	RCV001220358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204605	108204605	11:g.108204605A>G	-
NM_000051.4(ATM):c.7928-7A>T	472	ATM	Likely benign	-1	RCV002876907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204606	108204606	NC_000011.9:g.108204606A>T	-
NM_000051.4(ATM):c.7928-6A>T	472	ATM	Likely benign	373509918	RCV000430180\|RCV002059912;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204607	108204607	11:g.108204607A>T	ClinGen:CA6266227	CN169374 not specified;
NM_000051.4(ATM):c.7928-5T>C	472	ATM	Conflicting interpretations of pathogenicity	1591183992	RCV001026960\|RCV002551987;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204608	108204608	11:g.108204608T>C	-
NM_000051.4(ATM):c.7928-4A>C	472	ATM	Conflicting interpretations of pathogenicity	876658629	RCV000217382\|RCV001393345;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204609	108204609	11:g.108204609A>C	ClinGen:CA10579275	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7928-4A>G	472	ATM	Likely benign	876658629	RCV001026959\|RCV001410134;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204609	108204609	11:g.108204609A>G	-
NM_000051.4(ATM):c.7928-3C>T	472	ATM	Uncertain significance	1555126153	RCV000568080\|RCV001867854;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204610	108204610	11:g.108204610C>T	ClinGen:CA658656184	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7928-2A>T	472	ATM	Conflicting interpretations of pathogenicity	864622610	RCV000205665\|RCV002415871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204611	108204611	11:g.108204611A>T	ClinGen:CA349800	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7928-2A>G	472	ATM	Conflicting interpretations of pathogenicity	864622610	RCV000581443\|RCV001860068\|RCV003159978;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659	11	108204611	108204611	11:g.108204611A>G	ClinGen:CA382561648	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7928-1G>A	472	ATM	Conflicting interpretations of pathogenicity	1555126163	RCV000568827\|RCV000821107\|RCV003329311;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108204612	108204612	11:g.108204612G>A	ClinGen:CA382561649	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7929delA (p.Gly2644fs)	472	ATM	Pathogenic/Likely pathogenic	1064795550	RCV000478885\|RCV001856861;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204613	108204613	11:g.108204613_108204613del	ClinGen:CA16619242	CN517202 not provided;
NM_000051.4(ATM):c.7929A>T (p.Lys2643Asn)	472	ATM	Uncertain significance	780247224	RCV000526758\|RCV003302763;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204614	108204614	11:g.108204614A>T	ClinGen:CA6266228	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7930G>C (p.Gly2644Arg)	472	ATM	Uncertain significance	587781897	RCV000130234\|RCV001066097\|RCV003460917;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204615	108204615	11:g.108204615G>C	ClinGen:CA166002	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7930G>A (p.Gly2644Ser)	472	ATM	Uncertain significance	587781897	RCV000221138\|RCV002516176\|RCV003469096;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204615	108204615	11:g.108204615G>A	ClinGen:CA10579276	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7930G>T (p.Gly2644Cys)	472	ATM	Uncertain significance	587781897	RCV001998123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204615	108204615	108204615	-
NM_000051.4(ATM):c.7932C>T (p.Gly2644=)	472	ATM	Uncertain significance	2136610997	RCV001958414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204617	108204617		-
NM_000051.4(ATM):c.7933A>G (p.Ile2645Val)	472	ATM	Uncertain significance	937831636	RCV000572919\|RCV001222082;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204618	108204618	NC_000011.9:g.108204618A>G	ClinGen:CA228419730	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7936A>C (p.Asn2646His)	472	ATM	Uncertain significance	1060501575	RCV000467074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204621	108204621	NC_000011.9:g.108204621A>C	ClinGen:CA16613141	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7937A>G (p.Asn2646Ser)	472	ATM	Uncertain significance	-1	RCV002721580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204622	108204622	NC_000011.9:g.108204622A>G	-
NM_000051.4(ATM):c.7940_7970del (p.Ile2647fs)	472	ATM	Likely pathogenic	2136611559	RCV001814480\|RCV003238375;	N	Human Phenotype Ontology:HP:0011442,MedGen:C4023354\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204624	108204654	108204623	-
NM_000051.4(ATM):c.7942C>A (p.Pro2648Thr)	472	ATM	Uncertain significance	878853547	RCV000227613\|RCV003362733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204627	108204627	NC_000011.9:g.108204627C>A	ClinGen:CA10582858	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7942C>G (p.Pro2648Ala)	472	ATM	Uncertain significance	878853547	RCV000478040\|RCV000804189;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204627	108204627	11:g.108204627C>G	ClinGen:CA16619243	CN169374 not specified;
NM_000051.4(ATM):c.7942C>T (p.Pro2648Ser)	472	ATM	Uncertain significance	878853547	RCV001221756;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204627	108204627	11:g.108204627C>T	-
NM_000051.4(ATM):c.7946C>T (p.Ala2649Val)	472	ATM	Uncertain significance	876660877	RCV000218059\|RCV001048572;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204631	108204631	11:g.108204631C>T	ClinGen:CA10579277	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7947A>G (p.Ala2649=)	472	ATM	Likely benign	1060504301	RCV000461694\|RCV001192091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204632	108204632		ClinGen:CA16613143	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7947A>C (p.Ala2649=)	472	ATM	Likely benign	1060504301	RCV000628287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204632	108204632		ClinGen:CA476677568	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7948G>A (p.Asp2650Asn)	472	ATM	Uncertain significance	786202219	RCV000164935\|RCV002516471\|RCV003468725;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204633	108204633	11:g.108204633G>A	ClinGen:CA192109	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7949A>C (p.Asp2650Ala)	472	ATM	Uncertain significance	1060501635	RCV000469677;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204634	108204634	NC_000011.9:g.108204634A>C	ClinGen:CA16613207	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7949A>G (p.Asp2650Gly)	472	ATM	Uncertain significance	-1	RCV003038195;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204634	108204634	NC_000011.9:g.108204634A>G	-
NM_000051.4(ATM):c.7950C>T (p.Asp2650=)	472	ATM	Likely benign	1060504298	RCV000469037\|RCV001026991;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204635	108204635		ClinGen:CA16613144	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7950C>A (p.Asp2650Glu)	472	ATM	Uncertain significance	1060504298	RCV001969294\|RCV002423170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204635	108204635	108204635	-
NM_000051.4(ATM):c.7951C>T (p.Gln2651Ter)	472	ATM	Pathogenic/Likely pathogenic	587781994	RCV000130403\|RCV000411562;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204636	108204636	11:g.108204636C>T	ClinGen:CA166363	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7951C>G (p.Gln2651Glu)	472	ATM	Uncertain significance	587781994	RCV001916455;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204636	108204636	108204636	-
NM_000051.4(ATM):c.7953del (p.Gln2651fs)	472	ATM	Pathogenic	2136612771	RCV001385793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204638	108204638	108204637	-
NM_000051.4(ATM):c.7955C>T (p.Pro2652Leu)	472	ATM	Uncertain significance	1565538433	RCV000693792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204640	108204640	11:g.108204640C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7957A>G (p.Ile2653Val)	472	ATM	Uncertain significance	747448699	RCV000470182\|RCV001523871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204642	108204642	NC_000011.9:g.108204642A>G	ClinGen:CA6266229	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7958_7960del (p.Ile2653del)	472	ATM	Uncertain significance	1555126226	RCV000563531\|RCV001226252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204642	108204644	11:g.108204642_108204644del	ClinGen:CA658656196	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7957A>T (p.Ile2653Phe)	472	ATM	Uncertain significance	747448699	RCV001245634\|RCV002418845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204642	108204642	11:g.108204642A>T	-
NM_000051.4(ATM):c.7958T>C (p.Ile2653Thr)	472	ATM	Uncertain significance	-1	RCV002416880\|RCV003099800;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204643	108204643	108204643	-
NM_000051.4(ATM):c.7959T>C (p.Ile2653=)	472	ATM	Likely benign	2136613483	RCV001422757\|RCV002414002;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204644	108204644		-
NM_000051.4(ATM):c.7960dup (p.Thr2654fs)	472	ATM	Pathogenic	2136613666	RCV001942299;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204644	108204645	108204644	-
NM_000051.4(ATM):c.7960A>G (p.Thr2654Ala)	472	ATM	Uncertain significance	2136613550	RCV001976473\|RCV002423175;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204645	108204645	108204645	-
NM_000051.4(ATM):c.7961C>T (p.Thr2654Ile)	472	ATM	Uncertain significance	786203621	RCV000167013\|RCV001042093;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204646	108204646	11:g.108204646C>T	ClinGen:CA197274	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7961C>G (p.Thr2654Ser)	472	ATM	Uncertain significance	786203621	RCV001065271\|RCV002418537;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204646	108204646	11:g.108204646C>G	-
NM_000051.4(ATM):c.7963A>T (p.Lys2655Ter)	472	ATM	Pathogenic	1289658632	RCV001901850;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204648	108204648	108204648	-
NM_000051.4(ATM):c.7964A>C (p.Lys2655Thr)	472	ATM	Uncertain significance	2086549249	RCV001296277;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204649	108204649	108204649	-
NM_000051.4(ATM):c.7966_7970del (p.Leu2656fs)	472	ATM	Pathogenic	-1	RCV002806851\|RCV003358003;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204649	108204653	NC_000011.9:g.108204651_108204655del	-
NM_000051.4(ATM):c.7966C>G (p.Leu2656Val)	472	ATM	Conflicting interpretations of pathogenicity	1591184384	RCV000988731\|RCV002409319\|RCV002290502;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204651	108204651	11:g.108204651C>G	-
NM_000051.4(ATM):c.7966C>T (p.Leu2656Phe)	472	ATM	Uncertain significance	1591184384	RCV001228306\|RCV002411840\|RCV003469401;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204651	108204651	11:g.108204651C>T	-
NM_000051.4(ATM):c.7967T>G (p.Leu2656Arg)	472	ATM	Uncertain significance	121434218	RCV000538788;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204652	108204652	11:g.108204652T>G	ClinGen:CA382561729	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7968T>C (p.Leu2656=)	472	ATM	Likely benign	1591184410	RCV000877710\|RCV002416086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204653	108204653		-
NM_000051.4(ATM):c.7969A>G (p.Lys2657Glu)	472	ATM	Uncertain significance	755706903	RCV000463779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204654	108204654	NC_000011.9:g.108204654A>G	ClinGen:CA16613150	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7969A>C (p.Lys2657Gln)	472	ATM	Uncertain significance	-1	RCV002979166\|RCV003274119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204654	108204654	NC_000011.9:g.108204654A>C	-
NM_000051.4(ATM):c.7972A>T (p.Asn2658Tyr)	472	ATM	Uncertain significance	2086550573	RCV001220860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204657	108204657	11:g.108204657A>T	-
NM_000051.4(ATM):c.7974T>C (p.Asn2658=)	472	ATM	Likely benign	777548685	RCV000465820\|RCV000580966\|RCV001418806;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204659	108204659		ClinGen:CA6266231	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7975_7976insSVAelement	472	ATM	Pathogenic	2086551043	RCV001089779;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204660	108204661	-1	-
NM_000051.4(ATM):c.7976T>C (p.Leu2659Ser)	472	ATM	Uncertain significance	1565538536	RCV000771696\|RCV001798973\|RCV001856002;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204661	108204661	NC_000011.9:g.108204661T>C	-
NM_000051.4(ATM):c.7976T>G (p.Leu2659Ter)	472	ATM	Pathogenic	1565538536	RCV001389523;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204661	108204661	108204661	-
NM_000051.4(ATM):c.7977AGA[1] (p.Glu2660del)	472	ATM	Uncertain significance	2086551461	RCV001308300\|RCV002418936;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204662	108204664	108204661	-
NM_000051.4(ATM):c.7977A>G (p.Leu2659=)	472	ATM	Likely benign	2136615106	RCV001489411\|RCV002414183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204662	108204662		-
NM_000051.4(ATM):c.7978del (p.Glu2660fs)	472	ATM	Pathogenic	1591184471	RCV000824098;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204663	108204663	11:g.108204663_108204663del	-
NM_000051.4(ATM):c.7980A>T (p.Glu2660Asp)	472	ATM	Uncertain significance	1555126247	RCV000555928\|RCV000775848\|RCV003464124;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204665	108204665	11:g.108204665A>T	ClinGen:CA382561758	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7983T>C (p.Asp2661=)	472	ATM	Benign/Likely benign	143972422	RCV000163374\|RCV000199625\|RCV000442969\|RCV001200384;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108204668	108204668		ClinGen:CA188122	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7983TGT[2] (p.Val2664del)	472	ATM	Conflicting interpretations of pathogenicity	876660743	RCV000214450\|RCV000475820\|RCV000478779\|RCV003469090;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204668	108204670	11:g.108204668_108204670del	ClinGen:CA10579278	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7984G>A (p.Val2662Ile)	472	ATM	Conflicting interpretations of pathogenicity	1315805984	RCV000527553\|RCV001180547\|RCV001597153;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108204669	108204669	11:g.108204669G>A	ClinGen:CA382561767	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7985T>A (p.Val2662Asp)	472	ATM	Pathogenic/Likely pathogenic	863224463	RCV000200768\|RCV001176540\|RCV003468895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204670	108204670	11:g.108204670T>A	ClinGen:CA339537	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7991_8010+8dup	472	ATM	Uncertain significance	1555126295	RCV000628010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204672	108204673	NC_000011.9:g.108204676_108204703dup	ClinGen:CA658797750	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7987G>C (p.Val2663Leu)	472	ATM	Uncertain significance	-1	RCV002662445;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204672	108204672	NC_000011.9:g.108204672G>C	-
NM_000051.4(ATM):c.7988_7991del (p.Val2663fs)	472	ATM	Pathogenic	587776550	RCV000003173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204673	108204676	NC_000011.9:g.108204673_108204676delTTGT	ClinGen:CA252540,OMIM:607585.0017	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7988T>C (p.Val2663Ala)	472	ATM	Conflicting interpretations of pathogenicity	377648506	RCV000120160\|RCV000214426\|RCV000231221\|RCV000656763\|RCV002225366\|RCV003315730\|RCV003415906;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C03461	11	108204673	108204673	11:g.108204673T>C	ClinGen:CA157177	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7989T>C (p.Val2663=)	472	ATM	Likely benign	774232968	RCV000222269\|RCV000869016;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204674	108204674		ClinGen:CA6266232	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.7990G>T (p.Val2664Phe)	472	ATM	Uncertain significance	2086554329	RCV001228893;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204675	108204675	11:g.108204675G>T	-
NM_000051.4(ATM):c.7992C>T (p.Val2664=)	472	ATM	Likely benign	1591184637	RCV000981456;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204677	108204677		-
NM_000051.4(ATM):c.7993C>G (p.Pro2665Ala)	472	ATM	Uncertain significance	1555126304	RCV000540134\|RCV001805143;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204678	108204678	11:g.108204678C>G	ClinGen:CA382561783	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7994C>A (p.Pro2665His)	472	ATM	Uncertain significance	1591184690	RCV000810730;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204679	108204679	11:g.108204679C>A	-
NM_000051.4(ATM):c.7994C>T (p.Pro2665Leu)	472	ATM	Uncertain significance	1591184690	RCV000812466\|RCV001184410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204679	108204679	11:g.108204679C>T	-
NM_000051.4(ATM):c.7995T>G (p.Pro2665=)	472	ATM	Likely benign	1591184714	RCV001399392;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204680	108204680		-
NM_000051.4(ATM):c.7995T>A (p.Pro2665=)	472	ATM	Likely benign	1591184714	RCV001480755\|RCV003298850;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204680	108204680		-
NM_000051.4(ATM):c.7996A>G (p.Thr2666Ala)	472	ATM	Conflicting interpretations of pathogenicity	745775382	RCV000222128\|RCV000205336\|RCV001193061\|RCV001356715;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0007254,MedGen:C0006142	11	108204681	108204681	11:g.108204681A>G	ClinGen:CA349494,UniProtKB:Q13315#VAR_041580	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7996A>C (p.Thr2666Pro)	472	ATM	Uncertain significance	745775382	RCV000627979;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204681	108204681	11:g.108204681A>C	ClinGen:CA382561788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7998dup (p.Met2667fs)	472	ATM	Pathogenic/Likely pathogenic	587779869	RCV000115259\|RCV000409494\|RCV000766525\|RCV003460810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204682	108204683	NC_000011.9:g.108204683dup	ClinGen:CA287005	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7997C>A (p.Thr2666Asn)	472	ATM	Pathogenic/Likely pathogenic	730881384	RCV000159752\|RCV000628059\|RCV001027026\|RCV003467237;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204682	108204682	NC_000011.9:g.108204682C>A	ClinGen:CA298325	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7997C>T (p.Thr2666Ile)	472	ATM	Likely pathogenic	730881384	RCV002005123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204682	108204682	108204682	-
NM_000051.4(ATM):c.7999A>G (p.Met2667Val)	472	ATM	Uncertain significance	34099398	RCV000130136\|RCV000416016\|RCV000474473\|RCV001798440\|RCV002288635;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204684	108204684	11:g.108204684A>G	ClinGen:CA165779	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.7999A>T (p.Met2667Leu)	472	ATM	Uncertain significance	34099398	RCV000565488\|RCV000806156\|RCV003459273;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204684	108204684	NC_000011.9:g.108204684A>T	ClinGen:CA382561793	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8000T>C (p.Met2667Thr)	472	ATM	Uncertain significance	1060501566	RCV000465477\|RCV000567349\|RCV000587442\|RCV001356986\|RCV003470416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204685	108204685	NC_000011.9:g.108204685T>C	ClinGen:CA16613151	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8001G>A (p.Met2667Ile)	472	ATM	Uncertain significance	1591184841	RCV000810483;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204686	108204686	11:g.108204686G>A	-
NM_000051.4(ATM):c.8002G>A (p.Glu2668Lys)	472	ATM	Uncertain significance	772097933	RCV001182745\|RCV001232483;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204687	108204687	11:g.108204687G>A	-
NM_000051.4(ATM):c.8002G>C (p.Glu2668Gln)	472	ATM	Uncertain significance	772097933	RCV001319165;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204687	108204687	108204687	-
NM_000051.4(ATM):c.8008A>G (p.Lys2670Glu)	472	ATM	Uncertain significance	2086557212	RCV002044589;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204693	108204693	108204693	-
NM_000051.4(ATM):c.8010+1del	472	ATM	Likely pathogenic	876659350	RCV000213901\|RCV000475897\|RCV003155933;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204695	108204695	11:g.108204695_108204695del	ClinGen:CA10579279	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8010G>A (p.Lys2670=)	472	ATM	Conflicting interpretations of pathogenicity	1013244700	RCV001027065\|RCV001068502\|RCV001564202\|RCV003467696;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204695	108204695		-
NM_000051.4(ATM):c.8010+2T>C	472	ATM	Likely pathogenic	1591184927	RCV000807935\|RCV003316812;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108204697	108204697	11:g.108204697T>C	-
NM_000051.4(ATM):c.8010+2T>G	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002419221\|RCV003316867\|RCV003099817;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204697	108204697	108204697	-
NM_000051.4(ATM):c.8010+5T>A	472	ATM	Conflicting interpretations of pathogenicity	56256497	RCV000561163\|RCV000824046\|RCV003225089;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108204700	108204700	11:g.108204700T>A	ClinGen:CA228419803	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8010+5T>G	472	ATM	Likely benign	56256497	RCV000573344\|RCV000628169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204700	108204700	11:g.108204700T>G	ClinGen:CA658656202	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8010+5T>C	472	ATM	Conflicting interpretations of pathogenicity	56256497	RCV000628093\|RCV002420660;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108204700	108204700	NC_000011.9:g.108204700T>C	ClinGen:CA658797751	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8010+6T>C	472	ATM	Uncertain significance	2086559039	RCV001063056;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204701	108204701	11:g.108204701T>C	-
NM_000051.4(ATM):c.8010+6T>G	472	ATM	Uncertain significance	-1	RCV002866023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204701	108204701	NC_000011.9:g.108204701T>G	-
NM_000051.4(ATM):c.8010+9C>T	472	ATM	Likely benign	-1	RCV003034722;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204704	108204704	NC_000011.9:g.108204704C>T	-
NM_000051.4(ATM):c.8010+11A>C	472	ATM	Likely benign	760588708	RCV000430734\|RCV000580422\|RCV002059008;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204706	108204706	11:g.108204706A>C	ClinGen:CA6266235	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8010+30_8010+31insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTTTAGCCGGGATGGTCTCGATCTCCTGACCTCG	472	ATM	Likely benign	2136618959	RCV002179620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204708	108204709	108204708	-
NM_000051.4(ATM):c.8010+14A>T	472	ATM	Likely benign	2136618870	RCV002217477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204709	108204709	108204709	-
NM_000051.4(ATM):c.8010+18_8010+19del	472	ATM	Likely benign	750095790	RCV000771936\|RCV002534001;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204711	108204712	NC_000011.9:g.108204711CT[1]	-
NM_000051.4(ATM):c.8010+18C>A	472	ATM	Likely benign	2086560371	RCV002108071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204713	108204713	108204713	-
NM_000051.4(ATM):c.8010+19T>C	472	ATM	Likely benign	1555126346	RCV000583272\|RCV000610440\|RCV002529201;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204714	108204714	11:g.108204714T>C	ClinGen:CA658683773	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8010+19_8010+20del	472	ATM	Likely benign	1325965934	RCV002143397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204714	108204715	108204713	-
NM_000051.4(ATM):c.8010+19T>G	472	ATM	Likely benign	-1	RCV002810064;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204714	108204714	NC_000011.9:g.108204714T>G	-
NM_000051.4(ATM):c.8010+21_8010+24del	472	ATM	Likely benign	-1	RCV003045500;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204714	108204717	NC_000011.9:g.108204716_108204719del	-
NM_000051.4(ATM):c.8010+20T>C	472	ATM	Likely benign	2136619908	RCV002150071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204715	108204715	108204715	-
NM_000051.4(ATM):c.8010+30dup	472	ATM	Benign	3218702	RCV000669129\|RCV001712776\|RCV002225712\|RCV003320477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108204717	108204718	11:g.108204717_108204718insT	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8010+185_8010+186del	472	ATM	Likely benign	984385407	RCV000583953\|RCV000673390;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204880	108204881	11:g.108204880_108204881del	ClinGen:CA228419880	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8010+186C>T	472	ATM	Benign	227060	RCV000581035\|RCV000860160\|RCV001520053;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108204881	108204881	NC_000011.9:g.108204881C>T	ClinGen:CA228419883	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8011-18T>C	472	ATM	Likely benign	768522292	RCV000583872\|RCV002061692;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205678	108205678	NC_000011.9:g.108205678T>C	ClinGen:CA6266261	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8011-16T>C	472	ATM	Likely benign	776948701	RCV000611027\|RCV002063232;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205680	108205680	11:g.108205680T>C	ClinGen:CA6266262	CN169374 not specified;
NM_000051.4(ATM):c.8011-13A>T	472	ATM	Likely benign	-1	RCV003088308;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205683	108205683	NC_000011.9:g.108205683A>T	-
NM_000051.4(ATM):c.8011-12T>C	472	ATM	Likely benign	2136651285	RCV002083027;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205684	108205684	108205684	-
NM_000051.4(ATM):c.8011-10C>G	472	ATM	Uncertain significance	1555127008	RCV000555575;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205686	108205686	11:g.108205686C>G	ClinGen:CA658656204	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108334959)_(108354884_?)del	472	ATM	Likely pathogenic	-1	RCV000792792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205686	108225611		-
NC_000011.9:g.(?_108205686)_(108236245_?)dup	472	ATM	Uncertain significance	-1	RCV001975401;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205686	108236245	-1	-
NM_000051.4(ATM):c.8011-9T>C	472	ATM	Likely benign	1591190803	RCV001435925;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205687	108205687	11:g.108205687T>C	-
NM_000051.4(ATM):c.8011-9T>A	472	ATM	Uncertain significance	-1	RCV003020399;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205687	108205687	NC_000011.9:g.108205687T>A	-
NM_000051.4(ATM):c.8011-8T>G	472	ATM	Likely benign	1189310621	RCV001470860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205688	108205688	108205688	-
NM_000051.4(ATM):c.8011-4_8011-2del	472	ATM	Likely benign	2136651774	RCV001439082;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205689	108205691	108205688	-
NM_000051.4(ATM):c.8011-7T>C	472	ATM	Likely benign	2136651700	RCV001463699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205689	108205689	108205689	-
NM_000051.4(ATM):c.8011-6T>G	472	ATM	Conflicting interpretations of pathogenicity	762092284	RCV000234012\|RCV000481088\|RCV000776130\|RCV001171475;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108205690	108205690	11:g.108205690T>G	ClinGen:CA6266263	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108205690)_(108236241_?)dup	472	ATM	Uncertain significance	-1	RCV000628326;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205690	108236241		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108334963)_(108354880_?)del	472	ATM	Likely pathogenic	-1	RCV000708046;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205690	108225607		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8011-6T>C	472	ATM	Likely benign	762092284	RCV001471214;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205690	108205690	108205690	-
NM_000051.4(ATM):c.8011-4T>G	472	ATM	Uncertain significance	2086667288	RCV001225348;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205692	108205692	11:g.108205692T>G	-
NM_000051.4(ATM):c.8011-2A>C	472	ATM	Pathogenic	1591190908	RCV000800255;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205694	108205694	11:g.108205694A>C	-
NM_000051.4(ATM):c.8011-2A>G	472	ATM	Pathogenic	1591190908	RCV001946978;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205694	108205694	108205694	-
NM_000051.4(ATM):c.8011-1G>T	472	ATM	Pathogenic	1555127017	RCV000531766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205695	108205695	11:g.108205695G>T	ClinGen:CA382561832	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8014G>T (p.Asp2672Tyr)	472	ATM	Uncertain significance	1555127024	RCV000544384\|RCV000566307\|RCV003320471;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108205699	108205699	11:g.108205699G>T	ClinGen:CA382561841	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8015A>C (p.Asp2672Ala)	472	ATM	Uncertain significance	763161651	RCV000219117\|RCV000479711\|RCV000551886\|RCV001355903\|RCV003469035;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205700	108205700	11:g.108205700A>C	ClinGen:CA6266266	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8015A>G (p.Asp2672Gly)	472	ATM	Uncertain significance	763161651	RCV000805544;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205700	108205700	11:g.108205700A>G	-
NM_000051.4(ATM):c.8016C>T (p.Asp2672=)	472	ATM	Likely benign	1591191019	RCV001027066\|RCV002067705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205701	108205701		-
NM_000051.4(ATM):c.8017C>T (p.His2673Tyr)	472	ATM	Uncertain significance	1555127035	RCV000532605\|RCV002420328;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205702	108205702	11:g.108205702C>T	ClinGen:CA382561848	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8019C>T (p.His2673=)	472	ATM	Likely benign	1181283176	RCV001194270\|RCV002069253\|RCV002418653;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205704	108205704		-
NM_000051.4(ATM):c.8026G>A (p.Glu2676Lys)	472	ATM	Uncertain significance	786202859	RCV000165894\|RCV000478776\|RCV000685251;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205711	108205711	11:g.108205711G>A	ClinGen:CA194459	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8027A>T (p.Glu2676Val)	472	ATM	Uncertain significance	2136653996	RCV002016359;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205712	108205712	108205712	-
NM_000051.4(ATM):c.8028A>G (p.Glu2676=)	472	ATM	Conflicting interpretations of pathogenicity	1389648050	RCV000678990\|RCV001861865;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205713	108205713		-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8030A>G (p.Tyr2677Cys)	472	ATM	Conflicting interpretations of pathogenicity	28942103	RCV000003186\|RCV000545206\|RCV001027090;	N	MONDO:MONDO:0018266,MedGen:C1876175, Orphanet:370109\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205715	108205715	11:g.108205715A>G	ClinGen:CA249431,OMIM:607585.0028,OMIM:607585.0029	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8030delinsGTG (p.Tyr2677fs)	472	ATM	Pathogenic	2086671320	RCV001241385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205715	108205715	11:g.108205715_108205716insTG	-
NM_000051.4(ATM):c.8032G>A (p.Gly2678Arg)	472	ATM	Uncertain significance	766730487	RCV000484889\|RCV000557756\|RCV000567730\|RCV002222523;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108205717	108205717	11:g.108205717G>A	ClinGen:CA6266267	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8036_8051del (p.Asn2679fs)	472	ATM	Pathogenic	587780640	RCV000122885\|RCV000165284\|RCV000657318\|RCV001535617\|RCV003468739;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:00	11	108205720	108205735	11:g.108205720_108205735del	ClinGen:CA192972	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8035A>G (p.Asn2679Asp)	472	ATM	Uncertain significance	-1	RCV002828074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205720	108205720	NC_000011.9:g.108205720A>G	-
NM_000051.4(ATM):c.8036A>G (p.Asn2679Ser)	472	ATM	Uncertain significance	-1	RCV002419294\|RCV003103468;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205721	108205721	108205721	-
NM_000051.4(ATM):c.8038C>A (p.Leu2680Met)	472	ATM	Uncertain significance	2086671863	RCV001067045\|RCV001176271;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205723	108205723	11:g.108205723C>A	-
NM_000051.4(ATM):c.8041G>A (p.Val2681Met)	472	ATM	Uncertain significance	1064795034	RCV000482245\|RCV000564723\|RCV001068507;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205726	108205726	11:g.108205726G>A	ClinGen:CA16619245	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8041G>C (p.Val2681Leu)	472	ATM	Uncertain significance	1064795034	RCV000777428\|RCV001243234\|RCV001779076;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108205726	108205726	NC_000011.9:g.108205726G>C	-
NM_000051.4(ATM):c.8043dup (p.Thr2682fs)	472	ATM	Pathogenic	2086672570	RCV001241675\|RCV002418831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205727	108205728	11:g.108205727_108205728insG	-
NM_000051.4(ATM):c.8044A>C (p.Thr2682Pro)	472	ATM	Uncertain significance	730881320	RCV000159656\|RCV001027101\|RCV001049555;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205729	108205729	NC_000011.9:g.108205729A>C	ClinGen:CA298065	CN169374 not specified;
NM_000051.4(ATM):c.8044A>G (p.Thr2682Ala)	472	ATM	Uncertain significance	730881320	RCV001208406\|RCV002418700\|RCV003469342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205729	108205729	11:g.108205729A>G	-
NM_000051.4(ATM):c.8045C>G (p.Thr2682Ser)	472	ATM	Conflicting interpretations of pathogenicity	1175177178	RCV000797998\|RCV002406758;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205730	108205730	11:g.108205730C>G	-
NM_000051.4(ATM):c.8046T>C (p.Thr2682=)	472	ATM	Likely benign	876660435	RCV000220713\|RCV000588552\|RCV001485115;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205731	108205731		ClinGen:CA10579280	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8048_8049del (p.Ile2683fs)	472	ATM	Pathogenic	1565540673	RCV000703769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205731	108205732	11:g.108205731_108205732del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8047dup (p.Ile2683fs)	472	ATM	Pathogenic	2086674096	RCV001052590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205731	108205732	11:g.108205731_108205732insA	-
NM_000051.4(ATM):c.8049_8056dup (p.Phe2686fs)	472	ATM	Pathogenic	-1	RCV003031591;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205731	108205732	NC_000011.9:g.108205734_108205741dup	-
NM_000051.4(ATM):c.8047A>G (p.Ile2683Val)	472	ATM	Uncertain significance	587781344	RCV000534505\|RCV000565189\|RCV001355951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	11	108205732	108205732	11:g.108205732A>G	ClinGen:CA382561910	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8048T>C (p.Ile2683Thr)	472	ATM	Uncertain significance	1555127096	RCV000561388\|RCV000696163;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205733	108205733	11:g.108205733T>C	ClinGen:CA382561914	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8049A>G (p.Ile2683Met)	472	ATM	Uncertain significance	1292192410	RCV000627880;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205734	108205734	11:g.108205734A>G	ClinGen:CA382561917	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8050_8051del (p.Gln2684fs)	472	ATM	Pathogenic	2086675006	RCV001234692;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205734	108205735	11:g.108205734_108205735del	-
NM_000051.4(ATM):c.8050C>T (p.Gln2684Ter)	472	ATM	Pathogenic	1555127102	RCV000571748\|RCV001225686\|RCV001814187\|RCV003151789\|RCV003459274;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0011442,MedGen:C4023354\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108205735	108205735	NC_000011.9:g.108205735C>T	ClinGen:CA382561922	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8052_8055del (p.Gln2684fs)	472	ATM	Pathogenic	1591191412	RCV001027117\|RCV001057885\|RCV003455139;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205735	108205738	11:g.108205735_108205738del	-
NM_000051.4(ATM):c.8052G>C (p.Gln2684His)	472	ATM	Uncertain significance	-1	RCV003118519;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205737	108205737	NC_000011.9:g.108205737G>C	-
NM_000051.4(ATM):c.8054C>T (p.Ser2685Leu)	472	ATM	Uncertain significance	-1	RCV002760693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205739	108205739	NC_000011.9:g.108205739C>T	-
NM_000051.4(ATM):c.8056T>C (p.Phe2686Leu)	472	ATM	Conflicting interpretations of pathogenicity	1555127125	RCV000582097\|RCV000706251;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205741	108205741	11:g.108205741T>C	ClinGen:CA382561941	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8066A>G (p.Glu2689Gly)	472	ATM	Uncertain significance	759779781	RCV000580705\|RCV000627935;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205751	108205751	NC_000011.9:g.108205751A>G	ClinGen:CA6266269	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8068T>G (p.Phe2690Val)	472	ATM	Uncertain significance	2086677473	RCV001348860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205753	108205753	108205753	-
NM_000051.4(ATM):c.8069T>G (p.Phe2690Cys)	472	ATM	Uncertain significance	2086677926	RCV001050857;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205754	108205754	11:g.108205754T>G	-
NM_000051.4(ATM):c.8071C>T (p.Arg2691Cys)	472	ATM	Conflicting interpretations of pathogenicity	531980488	RCV000120161\|RCV000131504\|RCV000199628\|RCV000587628\|RCV001250430\|RCV002492419\|RCV003153382;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C000	11	108205756	108205756	11:g.108205756C>T	ClinGen:CA157180	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8071C>G (p.Arg2691Gly)	472	ATM	Uncertain significance	531980488	RCV001027138\|RCV001315328;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205756	108205756	11:g.108205756C>G	-
NM_000051.4(ATM):c.8071C>A (p.Arg2691Ser)	472	ATM	Uncertain significance	531980488	RCV001220716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205756	108205756	11:g.108205756C>A	-
NM_000051.4(ATM):c.8072G>A (p.Arg2691His)	472	ATM	Uncertain significance	876658385	RCV000218643\|RCV000236137\|RCV000628082\|RCV000764948\|RCV003417781;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108205757	108205757	11:g.108205757G>A	ClinGen:CA10579281	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8072G>C (p.Arg2691Pro)	472	ATM	Uncertain significance	876658385	RCV000231672\|RCV002417983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205757	108205757	NC_000011.9:g.108205757G>C	ClinGen:CA10582859	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8072G>T (p.Arg2691Leu)	472	ATM	Uncertain significance	876658385	RCV001929322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205757	108205757	108205757	-
NM_000051.4(ATM):c.8073C>G (p.Arg2691=)	472	ATM	Uncertain significance	1215882325	RCV000809026;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205758	108205758		-
NM_000051.4(ATM):c.8077G>A (p.Ala2693Thr)	472	ATM	Uncertain significance	2086679024	RCV001297648;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205762	108205762	108205762	-
NM_000051.4(ATM):c.8077G>C (p.Ala2693Pro)	472	ATM	Uncertain significance	-1	RCV002820884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205762	108205762	NC_000011.9:g.108205762G>C	-
NM_000051.4(ATM):c.8078C>A (p.Ala2693Glu)	472	ATM	Uncertain significance	2136659025	RCV001997939;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205763	108205763	108205763	-
NM_000051.4(ATM):c.8079AGG[1] (p.Gly2695del)	472	ATM	Uncertain significance	1565540828	RCV000686444\|RCV001027152\|RCV003235347;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108205764	108205766	11:g.108205764_108205766del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8080G>A (p.Gly2694Arg)	472	ATM	Uncertain significance	1555127157	RCV000561362\|RCV000823662;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205765	108205765	NC_000011.9:g.108205765G>A	ClinGen:CA382562025	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8080G>T (p.Gly2694Ter)	472	ATM	Pathogenic	1555127157	RCV001867525;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205765	108205765	108205765	-
NM_000051.4(ATM):c.8081G>C (p.Gly2694Ala)	472	ATM	Uncertain significance	2086679689	RCV001345670\|RCV002419021;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205766	108205766	108205766	-
NM_000051.4(ATM):c.8082A>C (p.Gly2694=)	472	ATM	Likely benign	540266635	RCV000423435\|RCV000547128\|RCV000771270;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205767	108205767		ClinGen:CA6266270	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8083G>T (p.Gly2695Cys)	472	ATM	Uncertain significance	1555127166	RCV000575375\|RCV000695768\|RCV001356533;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108205768	108205768	NC_000011.9:g.108205768G>T	ClinGen:CA382562037	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8083G>A (p.Gly2695Ser)	472	ATM	Uncertain significance	1555127166	RCV000628137\|RCV001756032\|RCV002420661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205768	108205768	NC_000011.9:g.108205768G>A	ClinGen:CA382562035	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8083G>C (p.Gly2695Arg)	472	ATM	Uncertain significance	1555127166	RCV001226296\|RCV003163762;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205768	108205768	11:g.108205768G>C	-
NM_000051.4(ATM):c.8084G>A (p.Gly2695Asp)	472	ATM	Uncertain significance	1060501680	RCV000466495\|RCV000563000\|RCV003326434;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108205769	108205769	NC_000011.9:g.108205769G>A	ClinGen:CA16613445	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8084G>C (p.Gly2695Ala)	472	ATM	Uncertain significance	1060501680	RCV000788614\|RCV000792375;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205769	108205769	11:g.108205769G>C	-
NM_000051.4(ATM):c.8084G>T (p.Gly2695Val)	472	ATM	Uncertain significance	1060501680	RCV001027154\|RCV001862400;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205769	108205769	11:g.108205769G>T	-
NM_000051.4(ATM):c.8086G>A (p.Val2696Ile)	472	ATM	Uncertain significance	989577687	RCV000472748;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205771	108205771	NC_000011.9:g.108205771G>A	ClinGen:CA16613495	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8087T>C (p.Val2696Ala)	472	ATM	Uncertain significance	1591191762	RCV001027155\|RCV002551993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205772	108205772	11:g.108205772T>C	-
NM_000051.4(ATM):c.8088A>G (p.Val2696=)	472	ATM	Likely benign	2136659987	RCV001451493;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205773	108205773		-
NM_000051.4(ATM):c.8089A>G (p.Asn2697Asp)	472	ATM	Uncertain significance	1555127177	RCV000565749\|RCV000792595;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205774	108205774	NC_000011.9:g.108205774A>G	ClinGen:CA382562053	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8089A>T (p.Asn2697Tyr)	472	ATM	Uncertain significance	1555127177	RCV001363148;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205774	108205774	108205774	-
NM_000051.4(ATM):c.8090A>G (p.Asn2697Ser)	472	ATM	Uncertain significance	2136660129	RCV001884525\|RCV003166993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205775	108205775	108205775	-
NM_000051.4(ATM):c.8091T>C (p.Asn2697=)	472	ATM	Likely benign	756887364	RCV000583126\|RCV001438741;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205776	108205776		ClinGen:CA6266271	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8093T>C (p.Leu2698Ser)	472	ATM	Uncertain significance	2136660259	RCV001942877;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205778	108205778	108205778	-
NM_000051.4(ATM):c.8094A>G (p.Leu2698=)	472	ATM	Likely benign	786203569	RCV000166947\|RCV000952587\|RCV001174986;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108205779	108205779		ClinGen:CA197107	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8095C>T (p.Pro2699Ser)	472	ATM	Uncertain significance	2086682194	RCV001054315\|RCV003160430;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205780	108205780	11:g.108205780C>T	-
NM_000051.4(ATM):c.8096C>G (p.Pro2699Arg)	472	ATM	Uncertain significance	879254209	RCV000235760\|RCV000562391\|RCV000706089;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205781	108205781	NC_000011.9:g.108205781C>G	ClinGen:CA10584370	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8096C>T (p.Pro2699Leu)	472	ATM	Conflicting interpretations of pathogenicity	879254209	RCV001207707\|RCV002418698;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205781	108205781	11:g.108205781C>T	-
NM_000051.4(ATM):c.8098A>T (p.Lys2700Ter)	472	ATM	Pathogenic/Likely pathogenic	758588019	RCV000411242\|RCV001182536\|RCV001268064\|RCV003470345;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205783	108205783	NC_000011.9:g.108205783A>T	ClinGen:CA16041429	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8098A>G (p.Lys2700Glu)	472	ATM	Uncertain significance	758588019	RCV001899710\|RCV002422912;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205783	108205783	108205783	-
NM_000051.4(ATM):c.8100A>G (p.Lys2700=)	472	ATM	Likely benign	778601472	RCV000163063\|RCV000434133\|RCV000472585\|RCV000679145;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108205785	108205785		ClinGen:CA187357	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8100A>T (p.Lys2700Asn)	472	ATM	Uncertain significance	778601472	RCV000205684;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205785	108205785	NC_000011.9:g.108205785A>T	ClinGen:CA349815	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8102_8103insTA (p.Ile2702fs)	472	ATM	Pathogenic	2136661064	RCV001936335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205787	108205788	108205787	-
NM_000051.4(ATM):c.8103_8104del (p.Ile2702fs)	472	ATM	Pathogenic/Likely pathogenic	1064793406	RCV000480632\|RCV001193039\|RCV003278827;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205788	108205789	11:g.108205788_108205789del	ClinGen:CA16619246	CN517202 not provided;
NM_000051.4(ATM):c.8103A>T (p.Ile2701=)	472	ATM	Likely benign	779803253	RCV002149987;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205788	108205788		-
NM_000051.4(ATM):c.8105T>G (p.Ile2702Arg)	472	ATM	Likely pathogenic	876659735	RCV000215525\|RCV000800002;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205790	108205790	11:g.108205790T>G	ClinGen:CA10579282,UniProtKB:Q13315#VAR_010870	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8106dup (p.Asp2703fs)	472	ATM	Likely pathogenic	1555127231	RCV000672507;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205790	108205791	11:g.108205790_108205791insA	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8105T>C (p.Ile2702Thr)	472	ATM	Conflicting interpretations of pathogenicity	876659735	RCV001297873\|RCV002418895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205790	108205790	108205790	-
NM_000051.4(ATM):c.8106A>G (p.Ile2702Met)	472	ATM	Uncertain significance	2086684779	RCV001322277\|RCV003469551;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205791	108205791	108205791	-
NM_000051.4(ATM):c.8107G>A (p.Asp2703Asn)	472	ATM	Uncertain significance	1555127236	RCV000628168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205792	108205792	NC_000011.9:g.108205792G>A	ClinGen:CA382562120	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8108A>T (p.Asp2703Val)	472	ATM	Uncertain significance	1565541059	RCV000706838;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205793	108205793	11:g.108205793A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8108A>G (p.Asp2703Gly)	472	ATM	Uncertain significance	1565541059	RCV001351080;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205793	108205793	108205793	-
NM_000051.4(ATM):c.8110dup (p.Cys2704fs)	472	ATM	Pathogenic	2136661900	RCV001390332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205793	108205794	108205793	-
NM_000051.4(ATM):c.8109T>C (p.Asp2703=)	472	ATM	Likely benign	201689025	RCV000570336\|RCV000628208\|RCV001194267;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108205794	108205794		ClinGen:CA6266275	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8111G>A (p.Cys2704Tyr)	472	ATM	Uncertain significance	1555127249	RCV000628090;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205796	108205796	NC_000011.9:g.108205796G>A	ClinGen:CA382562136	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8112T>C (p.Cys2704=)	472	ATM	Likely benign	786201543	RCV000163847\|RCV000419580\|RCV001491177;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205797	108205797		ClinGen:CA189334	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8113G>A (p.Val2705Ile)	472	ATM	Uncertain significance	587779870	RCV000115260\|RCV000234753\|RCV000235110\|RCV000779774\|RCV003467033;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205798	108205798	NC_000011.9:g.108205798G>A	ClinGen:CA287006	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8113G>T (p.Val2705Leu)	472	ATM	Uncertain significance	587779870	RCV000115261\|RCV000212078\|RCV000464258;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205798	108205798	NC_000011.9:g.108205798G>T	ClinGen:CA287009	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8115A>C (p.Val2705=)	472	ATM	Likely benign	1188411746	RCV001485010;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205800	108205800		-
NM_000051.4(ATM):c.8116G>T (p.Gly2706Cys)	472	ATM	Uncertain significance	2136662430	RCV001936669;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205801	108205801	108205801	-
NM_000051.4(ATM):c.8118T>C (p.Gly2706=)	472	ATM	Likely benign	1057520990	RCV001442320\|RCV001703652\|RCV002418267;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205803	108205803		ClinGen:CA16605833	CN169374 not specified;
NM_000051.4(ATM):c.8119T>A (p.Ser2707Thr)	472	ATM	Uncertain significance	1555127276	RCV000628143;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205804	108205804	NC_000011.9:g.108205804T>A	ClinGen:CA382562157	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8120C>G (p.Ser2707Cys)	472	ATM	Uncertain significance	748016261	RCV000204523\|RCV000447583\|RCV000509525\|RCV001030604\|RCV003468945;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,O	11	108205805	108205805	11:g.108205805C>G	ClinGen:CA348749	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8120C>T (p.Ser2707Phe)	472	ATM	Uncertain significance	748016261	RCV001920962;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205805	108205805	108205805	-
NM_000051.4(ATM):c.8121C>T (p.Ser2707=)	472	ATM	Likely benign	770138283	RCV000228505\|RCV000561507\|RCV001722204\|RCV002229637;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108205806	108205806		ClinGen:CA6266276	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8122G>A (p.Asp2708Asn)	472	ATM	Pathogenic/Likely pathogenic	587782719	RCV000132208\|RCV000255899\|RCV000559678\|RCV003162592\|RCV003149912\|RCV003230416\|RCV003467191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MedGen:CN22156	11	108205807	108205807	NC_000011.9:g.108205807G>A	ClinGen:CA169419	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8122G>C (p.Asp2708His)	472	ATM	Likely pathogenic	587782719	RCV000457844\|RCV002418373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205807	108205807	NC_000011.9:g.108205807G>C	ClinGen:CA16613497	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8122G>T (p.Asp2708Tyr)	472	ATM	Conflicting interpretations of pathogenicity	587782719	RCV001035949\|RCV002416329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205807	108205807	11:g.108205807G>T	-
NM_000051.4(ATM):c.8123A>T (p.Asp2708Val)	472	ATM	Uncertain significance	2086688080	RCV001321301\|RCV003120549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108205808	108205808	108205808	-
NM_000051.4(ATM):c.8123A>G (p.Asp2708Gly)	472	ATM	Uncertain significance	-1	RCV003000155;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205808	108205808	NC_000011.9:g.108205808A>G	-
NM_000051.4(ATM):c.8124T>A (p.Asp2708Glu)	472	ATM	Pathogenic	587781990	RCV000130392\|RCV001044776;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205809	108205809	11:g.108205809T>A	ClinGen:CA166315	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8124T>C (p.Asp2708=)	472	ATM	Likely benign	587781990	RCV000771937\|RCV000933104;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205809	108205809		-
NM_000051.4(ATM):c.8125G>A (p.Gly2709Ser)	472	ATM	Uncertain significance	3218680	RCV000535857\|RCV002420329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205810	108205810	11:g.108205810G>A	ClinGen:CA228420397	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8126G>C (p.Gly2709Ala)	472	ATM	Uncertain significance	2086688845	RCV001066472;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205811	108205811	11:g.108205811G>C	-
NM_000051.4(ATM):c.8127del (p.Lys2710fs)	472	ATM	Pathogenic/Likely pathogenic	1591192266	RCV000800174\|RCV001027201\|RCV003467381;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205812	108205812	11:g.108205812_108205812del	-
NM_000051.4(ATM):c.8129A>G (p.Lys2710Arg)	472	ATM	Uncertain significance	587782001	RCV000130416\|RCV000485472\|RCV000547885\|RCV002505108\|RCV003474762;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108205814	108205814	11:g.108205814A>G	ClinGen:CA166386	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8129A>T (p.Lys2710Met)	472	ATM	Uncertain significance	587782001	RCV001040020;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205814	108205814	11:g.108205814A>T	-
NM_000051.4(ATM):c.8135_8139del (p.Arg2712fs)	472	ATM	Pathogenic	2136663735	RCV001915239\|RCV002422999\|RCV003452097;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205814	108205818	108205813	-
NM_000051.4(ATM):c.8133G>A (p.Glu2711=)	472	ATM	Likely benign	1591192322	RCV001472490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205818	108205818		-
NM_000051.4(ATM):c.8139_8142dup (p.Leu2715fs)	472	ATM	Pathogenic	-1	RCV003051897;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205821	108205822	NC_000011.9:g.108205824_108205827dup	-
NM_000051.4(ATM):c.8138G>A (p.Arg2713Lys)	472	ATM	Uncertain significance	876659351	RCV000219954\|RCV000486028\|RCV000701187;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205823	108205823	11:g.108205823G>A	ClinGen:CA10579283	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8138G>C (p.Arg2713Thr)	472	ATM	Uncertain significance	876659351	RCV000522072\|RCV000567578\|RCV000819092\|RCV003470645;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205823	108205823	11:g.108205823G>C	ClinGen:CA382562221	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8138G>T (p.Arg2713Ile)	472	ATM	Uncertain significance	876659351	RCV001346959;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205823	108205823	108205823	-
NM_000051.4(ATM):c.8139A>C (p.Arg2713Ser)	472	ATM	Uncertain significance	-1	RCV003054006;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205824	108205824	NC_000011.9:g.108205824A>C	-
NM_000051.4(ATM):c.8140C>G (p.Gln2714Glu)	472	ATM	Uncertain significance	1060501695	RCV000471423\|RCV000569182\|RCV000589329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108205825	108205825	NC_000011.9:g.108205825C>G	ClinGen:CA16613499	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8140C>T (p.Gln2714Ter)	472	ATM	Pathogenic	1060501695	RCV000480590\|RCV000627965\|RCV001027217\|RCV003155945\|RCV003168944;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO	11	108205825	108205825	11:g.108205825C>T	ClinGen:CA16619247	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8140C>A (p.Gln2714Lys)	472	ATM	Uncertain significance	1060501695	RCV000628096\|RCV001027216;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205825	108205825	11:g.108205825C>A	ClinGen:CA382562232	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8141A>G (p.Gln2714Arg)	472	ATM	Uncertain significance	2086691196	RCV001214602;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205826	108205826	11:g.108205826A>G	-
NM_000051.4(ATM):c.8143C>T (p.Leu2715Phe)	472	ATM	Uncertain significance	1591192429	RCV001027218\|RCV001374269;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205828	108205828	11:g.108205828C>T	-
NM_000051.4(ATM):c.8148_8151+2del	472	ATM	Likely pathogenic	1565541335	RCV000704009\|RCV002422588\|RCV003453493;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205831	108205836	11:g.108205831_108205836del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8146G>A (p.Val2716Ile)	472	ATM	Uncertain significance	730881385	RCV001321853\|RCV003469549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108205831	108205831	108205831	-
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala)	472	ATM	Pathogenic/Likely pathogenic	587782652	RCV000132066\|RCV000169105\|RCV000212079\|RCV000709709\|RCV001640164\|RCV002285144\|RCV003128150\|RCV003318553;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO	11	108205832	108205832	11:g.108205832T>C	ClinGen:CA294465	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8148_8150dup (p.Val2716_Lys2717insAsn)	472	ATM	Uncertain significance	2086692643	RCV001322632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205832	108205833	108205832	-
NM_000051.4(ATM):c.8149A>C (p.Lys2717Gln)	472	ATM	Uncertain significance	774334667	RCV000813016;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205834	108205834	11:g.108205834A>C	-
NM_000051.4(ATM):c.8149A>G (p.Lys2717Glu)	472	ATM	Uncertain significance	774334667	RCV001220625;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205834	108205834	11:g.108205834A>G	-
NM_000051.4(ATM):c.8150A>C (p.Lys2717Thr)	472	ATM	Uncertain significance	1555127353	RCV001999121\|RCV002423213;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205835	108205835	108205835	-
NM_000051.4(ATM):c.8151G>A (p.Lys2717=)	472	ATM	Conflicting interpretations of pathogenicity	1591192550	RCV001027230\|RCV001207545;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205836	108205836		-
NM_000051.4(ATM):c.8151+1G>A	472	ATM	Pathogenic	1591192583	RCV001377244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205837	108205837	108205837	-
NM_000051.4(ATM):c.8151+2T>C	472	ATM	Pathogenic	2136665852	RCV001975133;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205838	108205838	108205838	-
NM_000051.4(ATM):c.8151+3G>A	472	ATM	Likely benign	760065522	RCV000423664\|RCV001027229\|RCV001211248;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205839	108205839	11:g.108205839G>A	ClinGen:CA6266279	CN169374 not specified;
NM_000051.4(ATM):c.8151+4A>T	472	ATM	Uncertain significance	1294982909	RCV000570433\|RCV000700055;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205840	108205840	NC_000011.9:g.108205840A>T	ClinGen:CA602132917	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8151+5G>A	472	ATM	Uncertain significance	1555127370	RCV000566878\|RCV001276373;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205841	108205841	NC_000011.9:g.108205841G>A	ClinGen:CA658656224	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8151+5G>C	472	ATM	Uncertain significance	1555127370	RCV001064046\|RCV001175972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205841	108205841	11:g.108205841G>C	-
NM_000051.4(ATM):c.8151+6C>T	472	ATM	Conflicting interpretations of pathogenicity	910779363	RCV001322452\|RCV001524376;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108205842	108205842	108205842	-
NM_000051.4(ATM):c.8151+7C>T	472	ATM	Uncertain significance	2086695144	RCV001279129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205843	108205843	11:g.108205843C>T	-
NM_000051.4(ATM):c.8151+8T>C	472	ATM	Likely benign	768069197	RCV000434936\|RCV000776303\|RCV000988732;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205844	108205844	11:g.108205844T>C	ClinGen:CA6266280	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8151+11_8151+17del	472	ATM	Likely benign	-1	RCV002815203;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205845	108205851	NC_000011.9:g.108205847_108205853del	-
NM_000051.4(ATM):c.8151+11C>T	472	ATM	Benign/Likely benign	555381912	RCV000445037\|RCV000679146\|RCV000579588\|RCV001357740\|RCV002061336;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205847	108205847	11:g.108205847C>T	ClinGen:CA6266281	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8151+11C>A	472	ATM	Likely benign	555381912	RCV002107096;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205847	108205847	108205847	-
NM_000051.4(ATM):c.8151+13T>G	472	ATM	Likely benign	-1	RCV002611950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205849	108205849	NC_000011.9:g.108205849T>G	-
NM_000051.4(ATM):c.8151+17C>G	472	ATM	Benign/Likely benign	761029795	RCV000679147\|RCV000771938\|RCV002060845;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108205853	108205853	NC_000011.9:g.108205853C>G	-	CN517202 not provided;
NM_000051.4(ATM):c.8152-50T>C	472	ATM	Likely benign	762648668	RCV000988733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206522	108206522	11:g.108206522T>C	-
NM_000051.4(ATM):c.8152-20C>T	472	ATM	Likely benign	1555128158	RCV000583491\|RCV002061693;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206552	108206552	NC_000011.9:g.108206552C>T	ClinGen:CA658683775	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8152-20C>G	472	ATM	Likely benign	-1	RCV002824442;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206552	108206552	NC_000011.9:g.108206552C>G	-
NM_000051.4(ATM):c.8152-17G>A	472	ATM	Likely benign	368924012	RCV000429938\|RCV000580163\|RCV002061633;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206555	108206555	11:g.108206555G>A	ClinGen:CA6266309	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8152-17del	472	ATM	Likely benign	2136689987	RCV002137687;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206555	108206555	108206554	-
NM_000051.4(ATM):c.8152-16C>G	472	ATM	Conflicting interpretations of pathogenicity	1555128173	RCV000582430\|RCV001860069;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206556	108206556	11:g.108206556C>G	ClinGen:CA658683776	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8152-11T>C	472	ATM	Likely benign	2136690464	RCV002167654;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206561	108206561	108206561	-
NC_000011.10:g.(?_108335835)_(108365508_?)dup	472	ATM	Uncertain significance	-1	RCV001032690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206562	108236235	-1	-
NC_000011.10:g.(?_108335835)_(108365518_?)dup	472	ATM	Uncertain significance	-1	RCV001032763;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206562	108236245	-1	-
NM_000051.4(ATM):c.8152-9A>G	472	ATM	Likely benign	1555128181	RCV000628233;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206563	108206563	NC_000011.9:g.108206563A>G	ClinGen:CA658797753	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8152-8T>A	472	ATM	Likely benign	752705487	RCV001501398;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206564	108206564	11:g.108206564T>A	-
NM_000051.4(ATM):c.8152-8T>C	472	ATM	Likely benign	-1	RCV003040078;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206564	108206564	NC_000011.9:g.108206564T>C	-
NM_000051.4(ATM):c.8152-7T>C	472	ATM	Conflicting interpretations of pathogenicity	2086778829	RCV001187960\|RCV002560000;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206565	108206565	11:g.108206565T>C	-
NM_000051.4(ATM):c.8152-6C>T	472	ATM	Conflicting interpretations of pathogenicity	200389039	RCV000472526\|RCV000582342\|RCV000599710\|RCV001696805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108206566	108206566	NC_000011.9:g.108206566C>T	ClinGen:CA6266311	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108206566)_(108206694_?)del	472	ATM	Likely pathogenic	-1	RCV000527043;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206566	108206694		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108206566)_(108236241_?)dup	472	ATM	Uncertain significance	-1	RCV000628324;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206566	108236241		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8152-4G>A	472	ATM	Likely benign	-1	RCV002953632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206568	108206568	NC_000011.9:g.108206568G>A	-
NM_000051.4(ATM):c.8152-2A>G	472	ATM	Pathogenic/Likely pathogenic	777602049	RCV000581351\|RCV002529202;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206570	108206570	11:g.108206570A>G	ClinGen:CA6266312	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8152-1G>A	472	ATM	Pathogenic/Likely pathogenic	1398616877	RCV000523454\|RCV000574836\|RCV001060841\|RCV003470658;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206571	108206571	11:g.108206571G>A	ClinGen:CA382562325	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8152-1G>T	472	ATM	Conflicting interpretations of pathogenicity	1398616877	RCV002246616\|RCV002423131\|RCV002035496;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206571	108206571	108206571	-
NM_000051.4(ATM):c.8152-1G>C	472	ATM	Pathogenic	1398616877	RCV001998146;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206571	108206571	108206571	-
NM_000051.4(ATM):c.8152G>A (p.Gly2718Ser)	472	ATM	Uncertain significance	1060501689	RCV000463539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206572	108206572	NC_000011.9:g.108206572G>A	ClinGen:CA16613449	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8152G>C (p.Gly2718Arg)	472	ATM	Uncertain significance	1060501689	RCV001225182\|RCV002418781;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206572	108206572	11:g.108206572G>C	-
NM_000051.4(ATM):c.8154C>T (p.Gly2718=)	472	ATM	Likely benign	371021126	RCV000165214\|RCV000204374\|RCV000428717\|RCV003150019;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:CN221562	11	108206574	108206574		ClinGen:CA192791
NM_000051.4(ATM):c.8154C>G (p.Gly2718=)	472	ATM	Likely benign	371021126	RCV002174839;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206574	108206574		-
NM_000051.4(ATM):c.8155C>T (p.Arg2719Cys)	472	ATM	Uncertain significance	138526014	RCV000165327\|RCV000457425\|RCV001529786\|RCV002247570\|RCV003313782\|RCV003468741;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MedGen:C5669733\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206575	108206575	11:g.108206575C>T	ClinGen:CA193094	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8156G>A (p.Arg2719His)	472	ATM	Uncertain significance	55982963	RCV000115262\|RCV000232453\|RCV000586113\|RCV000764949\|RCV001257471\|RCV001798327\|RCV001818260;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108206576	108206576	NC_000011.9:g.108206576G>A	ClinGen:CA287012,UniProtKB:Q13315#VAR_041581	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8156G>T (p.Arg2719Leu)	472	ATM	Uncertain significance	55982963	RCV000196713\|RCV000579724\|RCV003417720;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	11	108206576	108206576	11:g.108206576G>T	ClinGen:CA336645	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8156G>C (p.Arg2719Pro)	472	ATM	Uncertain significance	-1	RCV003025027\|RCV003358053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206576	108206576	NC_000011.9:g.108206576G>C	-
NM_000051.4(ATM):c.8157T>C (p.Arg2719=)	472	ATM	Likely benign	2136691533	RCV001433333;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206577	108206577		-
NM_000051.4(ATM):c.8158G>C (p.Asp2720His)	472	ATM	Uncertain significance	876659942	RCV000695980;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206578	108206578	11:g.108206578G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8159A>G (p.Asp2720Gly)	472	ATM	Uncertain significance	745901025	RCV001322368\|RCV002418967;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206579	108206579	108206579	-
NM_000051.4(ATM):c.8161G>C (p.Asp2721His)	472	ATM	Uncertain significance	876659066	RCV000216939\|RCV000628023;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206581	108206581	11:g.108206581G>C	ClinGen:CA10579285	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8161G>T (p.Asp2721Tyr)	472	ATM	Uncertain significance	876659066	RCV001223329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206581	108206581	11:g.108206581G>T	-
NM_000051.4(ATM):c.8161G>A (p.Asp2721Asn)	472	ATM	Conflicting interpretations of pathogenicity	876659066	RCV001362560\|RCV001820061\|RCV002420793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206581	108206581	108206581	-
NM_000051.4(ATM):c.8162A>T (p.Asp2721Val)	472	ATM	Uncertain significance	1555128280	RCV001341953\|RCV003442861\|RCV003469572;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206582	108206582	108206582	-
NM_000051.4(ATM):c.8164_8181del (p.Leu2722_Val2727del)	472	ATM	Uncertain significance	1555128287	RCV000628134;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206583	108206600	NC_000011.9:g.108206584_108206601del	ClinGen:CA658797754	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8163C>A (p.Asp2721Glu)	472	ATM	Uncertain significance	1305816583	RCV001373596;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206583	108206583	108206583	-
NM_000051.4(ATM):c.8164C>G (p.Leu2722Val)	472	ATM	Uncertain significance	587782399	RCV000131432\|RCV002514745;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206584	108206584	11:g.108206584C>G	ClinGen:CA168141	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8164C>T (p.Leu2722=)	472	ATM	Likely benign	587782399	RCV000477334\|RCV000580302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206584	108206584		ClinGen:CA6266314	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8165T>G (p.Leu2722Arg)	472	ATM	Uncertain significance	2086784272	RCV001318045;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206585	108206585	108206585	-
NM_000051.4(ATM):c.8167A>G (p.Arg2723Gly)	472	ATM	Uncertain significance	-1	RCV003026922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206587	108206587	NC_000011.9:g.108206587A>G	-
NM_000051.4(ATM):c.8168G>T (p.Arg2723Ile)	472	ATM	Uncertain significance	1555128301	RCV000627842\|RCV003441974;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108206588	108206588	NC_000011.9:g.108206588G>T	ClinGen:CA382562486	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8169A>G (p.Arg2723=)	472	ATM	Likely benign	780495319	RCV001406997;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206589	108206589		-
NM_000051.4(ATM):c.8170C>A (p.Gln2724Lys)	472	ATM	Uncertain significance	2086784990	RCV001061645\|RCV002429694;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206590	108206590	11:g.108206590C>A	-
NM_000051.4(ATM):c.8170C>T (p.Gln2724Ter)	472	ATM	Pathogenic/Likely pathogenic	2086784990	RCV001915367\|RCV003407917;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|	11	108206590	108206590	108206590	-
NM_000051.4(ATM):c.8171A>G (p.Gln2724Arg)	472	ATM	Uncertain significance	1565543300	RCV000692223\|RCV002424632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206591	108206591	11:g.108206591A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8173G>C (p.Asp2725His)	472	ATM	Uncertain significance	587782049	RCV000130517\|RCV000470886\|RCV000994717;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108206593	108206593	11:g.108206593G>C	ClinGen:CA166572	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8173G>A (p.Asp2725Asn)	472	ATM	Uncertain significance	587782049	RCV001341435;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206593	108206593	108206593	-
NM_000051.4(ATM):c.8173G>T (p.Asp2725Tyr)	472	ATM	Uncertain significance	587782049	RCV002040647;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206593	108206593	108206593	-
NM_000051.4(ATM):c.8174A>G (p.Asp2725Gly)	472	ATM	Uncertain significance	1555128314	RCV000567377\|RCV001212148;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206594	108206594	NC_000011.9:g.108206594A>G	ClinGen:CA382562502	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8174A>T (p.Asp2725Val)	472	ATM	Uncertain significance	1555128314	RCV001347477;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206594	108206594	108206594	-
NM_000051.4(ATM):c.8175T>A (p.Asp2725Glu)	472	ATM	Uncertain significance	1431188311	RCV001027246\|RCV001041104;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206595	108206595	11:g.108206595T>A	-
NM_000051.4(ATM):c.8175T>G (p.Asp2725Glu)	472	ATM	Uncertain significance	1431188311	RCV001524751\|RCV002568078;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206595	108206595	108206595	-
NM_000051.4(ATM):c.8178T>C (p.Ala2726=)	472	ATM	Likely benign	367575159	RCV000219852\|RCV000465107\|RCV001705221\|RCV001731448;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108206598	108206598		ClinGen:CA6266316	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8178T>G (p.Ala2726=)	472	ATM	Likely benign	367575159	RCV001455693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206598	108206598		-
NM_000051.4(ATM):c.8180T>C (p.Val2727Ala)	472	ATM	Uncertain significance	1565543359	RCV000679148\|RCV001317382\|RCV002424575;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206600	108206600	NC_000011.9:g.108206600T>C	-	CN517202 not provided;
NM_000051.4(ATM):c.8180T>G (p.Val2727Gly)	472	ATM	Uncertain significance	1565543359	RCV000820101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206600	108206600	11:g.108206600T>G	-
NM_000051.4(ATM):c.8182dup (p.Met2728fs)	472	ATM	Pathogenic	2136693800	RCV001382615\|RCV003450057;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206601	108206602	108206601	-
NM_000051.4(ATM):c.8181C>T (p.Val2727=)	472	ATM	Likely benign	2136693653	RCV001440663\|RCV002432224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206601	108206601		-
NM_000051.4(ATM):c.8182A>T (p.Met2728Leu)	472	ATM	Uncertain significance	1555128338	RCV000528580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206602	108206602	11:g.108206602A>T	ClinGen:CA382562517	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8185C>T (p.Gln2729Ter)	472	ATM	Pathogenic/Likely pathogenic	587781967	RCV000130347\|RCV000410300\|RCV000657613\|RCV003467141;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206605	108206605	11:g.108206605C>T	ClinGen:CA166241	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8185C>G (p.Gln2729Glu)	472	ATM	Uncertain significance	587781967	RCV001060404\|RCV002429685;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206605	108206605	11:g.108206605C>G	-
NM_000051.4(ATM):c.8186A>C (p.Gln2729Pro)	472	ATM	Uncertain significance	1555128350	RCV000536620\|RCV002431499;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206606	108206606	11:g.108206606A>C	ClinGen:CA382562528	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8186A>G (p.Gln2729Arg)	472	ATM	Uncertain significance	-1	RCV002297063;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206606	108206606	108206606	-
NM_000051.4(ATM):c.8187A>C (p.Gln2729His)	472	ATM	Uncertain significance	587781946	RCV000130316\|RCV000549269\|RCV001576209\|RCV003398761;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108206607	108206607	11:g.108206607A>C	ClinGen:CA166168	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8187A>T (p.Gln2729His)	472	ATM	Uncertain significance	587781946	RCV000159754\|RCV000456573\|RCV000572704;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206607	108206607	NC_000011.9:g.108206607A>T	ClinGen:CA298331	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8187A>G (p.Gln2729=)	472	ATM	Conflicting interpretations of pathogenicity	587781946	RCV000486743\|RCV000799140\|RCV001027254;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206607	108206607		ClinGen:CA16619249	CN169374 not specified;
NM_000051.4(ATM):c.8188C>G (p.Gln2730Glu)	472	ATM	Uncertain significance	587782317	RCV001234260;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206608	108206608	11:g.108206608C>G	-
NM_000051.4(ATM):c.8188C>T (p.Gln2730Ter)	472	ATM	Pathogenic	587782317	RCV001240432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206608	108206608	11:g.108206608C>T	-
NM_000051.4(ATM):c.8189A>C (p.Gln2730Pro)	472	ATM	Likely pathogenic	762154857	RCV000800526;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206609	108206609	11:g.108206609A>C	-
NM_000051.4(ATM):c.8189A>G (p.Gln2730Arg)	472	ATM	Uncertain significance	762154857	RCV000799071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206609	108206609	11:g.108206609A>G	-
NM_000051.4(ATM):c.8189A>T (p.Gln2730Leu)	472	ATM	Uncertain significance	762154857	RCV001232393;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206609	108206609	11:g.108206609A>T	-
NM_000051.4(ATM):c.8190G>C (p.Gln2730His)	472	ATM	Uncertain significance	2086788941	RCV001304689\|RCV003284159;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206610	108206610	108206610	-
NM_000051.4(ATM):c.8191G>A (p.Val2731Ile)	472	ATM	Uncertain significance	1215175886	RCV001364571\|RCV003469601;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206611	108206611	108206611	-
NM_000051.4(ATM):c.8192_8194delinsCC (p.Val2731fs)	472	ATM	Pathogenic	2086789644	RCV001239662;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206612	108206614	11:g.108206613_108206614del	-
NM_000051.4(ATM):c.8192T>C (p.Val2731Ala)	472	ATM	Uncertain significance	2086789387	RCV001325786\|RCV002431929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206612	108206612	108206612	-
NM_000051.4(ATM):c.8192T>G (p.Val2731Gly)	472	ATM	Uncertain significance	2086789387	RCV001340168\|RCV002431951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206612	108206612	108206612	-
NM_000051.4(ATM):c.8192T>A (p.Val2731Asp)	472	ATM	Uncertain significance	-1	RCV003062454;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206612	108206612	NC_000011.9:g.108206612T>A	-
NM_000051.4(ATM):c.8193C>A (p.Val2731=)	472	ATM	Likely benign	1060504307	RCV000457873\|RCV000775798;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206613	108206613		ClinGen:CA16613212	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8193C>T (p.Val2731=)	472	ATM	Likely benign	1060504307	RCV001027262\|RCV001418528;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206613	108206613		-
NM_000051.4(ATM):c.8194T>C (p.Phe2732Leu)	472	ATM	Uncertain significance	876659619	RCV000214208\|RCV000528261;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206614	108206614	11:g.108206614T>C	ClinGen:CA10579286,UniProtKB:Q13315#VAR_010875	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8194T>G (p.Phe2732Val)	472	ATM	Uncertain significance	876659619	RCV000481433\|RCV000540840\|RCV000563377;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206614	108206614	11:g.108206614T>G	ClinGen:CA16619250	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8194T>A (p.Phe2732Ile)	472	ATM	Uncertain significance	876659619	RCV002015475;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206614	108206614	108206614	-
NM_000051.4(ATM):c.8195T>C (p.Phe2732Ser)	472	ATM	Uncertain significance	2086790430	RCV001222955;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206615	108206615	11:g.108206615T>C	-
NM_000051.4(ATM):c.8196C>G (p.Phe2732Leu)	472	ATM	Uncertain significance	1183442138	RCV001878233\|RCV002425122;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206616	108206616	108206616	-
NM_000051.4(ATM):c.8198A>G (p.Gln2733Arg)	472	ATM	Uncertain significance	1591198624	RCV000792390;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206618	108206618	11:g.108206618A>G	-
NM_000051.4(ATM):c.8199G>A (p.Gln2733=)	472	ATM	Likely benign	770552705	RCV000164998\|RCV000470464\|RCV001697122;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108206619	108206619		ClinGen:CA192266	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8199G>C (p.Gln2733His)	472	ATM	Uncertain significance	770552705	RCV001926741\|RCV003159222;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108206619	108206619	108206619	-
NM_000051.4(ATM):c.8204_8205dup (p.Asn2736fs)	472	ATM	Pathogenic/Likely pathogenic	1555128432	RCV000215590\|RCV000799342\|RCV003469051;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206620	108206621	NC_000011.9:g.108206622GT[3]	ClinGen:CA10579287	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8201T>C (p.Met2734Thr)	472	ATM	Uncertain significance	2136695452	RCV001886287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206621	108206621	108206621	-
NM_000051.4(ATM):c.8202G>A (p.Met2734Ile)	472	ATM	Uncertain significance	2086792007	RCV001219390;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206622	108206622	11:g.108206622G>A	-
NM_000051.4(ATM):c.8204G>T (p.Cys2735Phe)	472	ATM	Uncertain significance	-1	RCV003063748;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206624	108206624	NC_000011.9:g.108206624G>T	-
NM_000051.4(ATM):c.8206_8207dup (p.Asn2736fs)	472	ATM	Pathogenic	587782525	RCV000131713\|RCV001857465;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206625	108206626	11:g.108206625_108206626insAA	ClinGen:CA168643	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8205T>C (p.Cys2735=)	472	ATM	Likely benign	2136696071	RCV002191620;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206625	108206625		-
NM_000051.4(ATM):c.8206A>T (p.Asn2736Tyr)	472	ATM	Uncertain significance	1060501577	RCV000462568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206626	108206626	NC_000011.9:g.108206626A>T	ClinGen:CA16613214	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8206A>G (p.Asn2736Asp)	472	ATM	Uncertain significance	1060501577	RCV001219939\|RCV002411813;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206626	108206626	11:g.108206626A>G	-
NM_000051.4(ATM):c.8207_8211del (p.Asn2736fs)	472	ATM	Likely pathogenic	2136696317	RCV001580633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206626	108206630	108206625	-
NM_000051.4(ATM):c.8207del (p.Asn2736fs)	472	ATM	Pathogenic	587782525	RCV001960543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206626	108206626	108206625	-
NM_000051.4(ATM):c.8207A>G (p.Asn2736Ser)	472	ATM	Uncertain significance	1190456608	RCV000553464\|RCV000563950\|RCV002260644;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108206627	108206627	11:g.108206627A>G	ClinGen:CA382562577	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8208T>C (p.Asn2736=)	472	ATM	Likely benign	1057523318	RCV000439120\|RCV001411861;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206628	108206628		ClinGen:CA16606123	CN169374 not specified;
NM_000051.4(ATM):c.8210C>G (p.Thr2737Arg)	472	ATM	Uncertain significance	2086793204	RCV001231115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206630	108206630	11:g.108206630C>G	-
NM_000051.4(ATM):c.8210C>T (p.Thr2737Ile)	472	ATM	Uncertain significance	2086793204	RCV001870196;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206630	108206630	108206630	-
NM_000051.4(ATM):c.8211A>T (p.Thr2737=)	472	ATM	Conflicting interpretations of pathogenicity	876660946	RCV000219301\|RCV000979478\|RCV003320462;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108206631	108206631		ClinGen:CA10579288
NM_000051.4(ATM):c.8211A>G (p.Thr2737=)	472	ATM	Likely benign	876660946	RCV000564036\|RCV000605623\|RCV000935499;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206631	108206631		ClinGen:CA476678163	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8213_8249dup (p.Leu2750delinsPheThrAlaGluLysHisGlyAsnTer)	472	ATM	Pathogenic	2086793763	RCV001228859;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206631	108206632	11:g.108206631_108206632insTTACTGCAGAGAAACACGGAAACTAGGAAGAGGAAAT	-
NM_000051.4(ATM):c.8214A>C (p.Leu2738Phe)	472	ATM	Uncertain significance	2136696989	RCV001962314;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206634	108206634	108206634	-
NM_000051.4(ATM):c.8215C>T (p.Leu2739=)	472	ATM	Likely benign	1060504311	RCV001408175\|RCV001524370;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206635	108206635		ClinGen:CA16613215
NM_000051.4(ATM):c.8217G>A (p.Leu2739=)	472	ATM	Likely benign	759069006	RCV000166774\|RCV000432903\|RCV000926977;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206637	108206637		ClinGen:CA196699	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8217G>T (p.Leu2739=)	472	ATM	Likely benign	759069006	RCV000935548\|RCV001027292\|RCV001703651;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108206637	108206637		ClinGen:CA6266319	CN169374 not specified;
NM_000051.4(ATM):c.8218C>T (p.Gln2740Ter)	472	ATM	Pathogenic	866402530	RCV000220128\|RCV000525053\|RCV003332149;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108206638	108206638	11:g.108206638C>T	ClinGen:CA10579289	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108335912)_(108340340_?)del	472	ATM	Pathogenic	-1	RCV000628327;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206639	108211067		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8220G>A (p.Gln2740=)	472	ATM	Likely benign	1060504313	RCV001450152;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206640	108206640		ClinGen:CA16613216
NM_000051.4(ATM):c.8224_8225del (p.Asn2742fs)	472	ATM	Pathogenic/Likely pathogenic	1162534390	RCV000628047\|RCV001027302\|RCV003465373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206643	108206644	NC_000011.9:g.108206644_108206645del	ClinGen:CA601727583	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8227_8228del (p.Thr2743fs)	472	ATM	Likely pathogenic	2086795898	RCV001261522;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206645	108206646	11:g.108206645_108206646del	-
NM_000051.4(ATM):c.8226C>T (p.Asn2742=)	472	ATM	Likely benign	2136697809	RCV002208814\|RCV002407365;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206646	108206646		-
NM_000051.4(ATM):c.8228C>T (p.Thr2743Met)	472	ATM	Uncertain significance	730881321	RCV000159657\|RCV000206677\|RCV000436353\|RCV003462069;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206648	108206648	NC_000011.9:g.108206648C>T	ClinGen:CA298068	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8229G>A (p.Thr2743=)	472	ATM	Benign/Likely benign	150603052	RCV000163112\|RCV000466026\|RCV001193634\|RCV001640212;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108206649	108206649		ClinGen:CA187474	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8231A>C (p.Glu2744Ala)	472	ATM	Uncertain significance	764003317	RCV000166414\|RCV000628192\|RCV001797653;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108206651	108206651	11:g.108206651A>C	ClinGen:CA195815	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8234C>T (p.Thr2745Ile)	472	ATM	Uncertain significance	786203094	RCV000166247\|RCV002298493;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206654	108206654	11:g.108206654C>T	ClinGen:CA195363	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8235T>C (p.Thr2745=)	472	ATM	Likely benign	2136698319	RCV001433375;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206655	108206655		-
NM_000051.4(ATM):c.8236A>G (p.Arg2746Gly)	472	ATM	Uncertain significance	2136698373	RCV001944871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206656	108206656	108206656	-
NM_000051.4(ATM):c.8238del (p.Lys2747fs)	472	ATM	Pathogenic	-1	RCV002801960;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206657	108206657	NC_000011.9:g.108206658del	-
NM_000051.4(ATM):c.8240dup (p.Arg2748fs)	472	ATM	Pathogenic	1591199097	RCV001027315\|RCV001049654\|RCV003467697;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206658	108206659	11:g.108206658_108206659insA	-
NM_000051.4(ATM):c.8239A>T (p.Lys2747Ter)	472	ATM	Pathogenic	2136698578	RCV001383338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206659	108206659	108206659	-
NM_000051.4(ATM):c.8240A>G (p.Lys2747Arg)	472	ATM	Uncertain significance	1038749014	RCV000468082\|RCV001181422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206660	108206660	NC_000011.9:g.108206660A>G	ClinGen:CA16613500	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8243G>A (p.Arg2748Lys)	472	ATM	Uncertain significance	75305387	RCV001322106;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206663	108206663	108206663	-
NM_000051.4(ATM):c.8244G>A (p.Arg2748=)	472	ATM	Likely benign	1591199166	RCV001027317\|RCV001492335;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206664	108206664		-
NM_000051.4(ATM):c.8247del (p.Lys2749fs)	472	ATM	Pathogenic	2136698948	RCV001947071;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206665	108206665	108206664	-
NM_000051.4(ATM):c.8246A>T (p.Lys2749Ile)	472	ATM	Conflicting interpretations of pathogenicity	779145081	RCV000223476\|RCV000347894\|RCV001030605\|RCV001526927\|RCV003441794\|RCV003469000;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C03461	11	108206666	108206666	11:g.108206666A>T	ClinGen:CA6266322	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8246A>G (p.Lys2749Arg)	472	ATM	Uncertain significance	779145081	RCV000464927\|RCV000481130\|RCV000564545;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206666	108206666	NC_000011.9:g.108206666A>G	ClinGen:CA6266323	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8249dup (p.Leu2750fs)	472	ATM	Pathogenic	1565543844	RCV000691218;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206667	108206668	11:g.108206667_108206668insT	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8248T>A (p.Leu2750Ile)	472	ATM	Uncertain significance	876658559	RCV000217852\|RCV001301600;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206668	108206668	11:g.108206668T>A	ClinGen:CA10579291	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8248_8268del (p.Leu2750_Lys2756del)	472	ATM	Conflicting interpretations of pathogenicity	771146489	RCV000486046\|RCV000628063\|RCV001027318;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206668	108206688	NC_000011.9:g.108206668_108206688del	ClinGen:CA6266324	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8248T>C (p.Leu2750=)	472	ATM	Likely benign	876658559	RCV000541650\|RCV002431500;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206668	108206668		ClinGen:CA476678197	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer)	472	ATM	Pathogenic	1565543844	RCV001027319\|RCV002286800;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206668	108206668	11:g.108206668_108206668del	-
NM_000051.4(ATM):c.8249T>C (p.Leu2750Ser)	472	ATM	Uncertain significance	-1	RCV002430142\|RCV003099883;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206669	108206669	108206669	-
NM_000051.4(ATM):c.8251A>G (p.Thr2751Ala)	472	ATM	Uncertain significance	2086799919	RCV001260401\|RCV002541564;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206671	108206671	11:g.108206671A>G	-
NM_000051.4(ATM):c.8252C>G (p.Thr2751Ser)	472	ATM	Uncertain significance	2086800136	RCV001058550\|RCV001760010\|RCV002429677\|RCV003467793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206672	108206672	11:g.108206672C>G	-
NM_000051.4(ATM):c.8254A>G (p.Ile2752Val)	472	ATM	Uncertain significance	1215163673	RCV000777066\|RCV001279130;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206674	108206674	NC_000011.9:g.108206674A>G	-
NM_000051.4(ATM):c.8254A>C (p.Ile2752Leu)	472	ATM	Uncertain significance	-1	RCV002430163\|RCV003099886;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206674	108206674	108206674	-
NM_000051.4(ATM):c.8256C>G (p.Ile2752Met)	472	ATM	Uncertain significance	1555128574	RCV000554255;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206676	108206676	11:g.108206676C>G	ClinGen:CA382562679	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8257T>C (p.Cys2753Arg)	472	ATM	Uncertain significance	-1	RCV002991405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206677	108206677	NC_000011.9:g.108206677T>C	-
NM_000051.4(ATM):c.8258G>T (p.Cys2753Phe)	472	ATM	Uncertain significance	1284049490	RCV000705887\|RCV001027328\|RCV003465637;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206678	108206678	NC_000011.9:g.108206678G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8258del (p.Cys2753fs)	472	ATM	Pathogenic	2086801267	RCV001059665;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206678	108206678	11:g.108206678_108206678del	-
NM_000051.4(ATM):c.8258G>A (p.Cys2753Tyr)	472	ATM	Uncertain significance	1284049490	RCV001308935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206678	108206678	108206678	-
NM_000051.4(ATM):c.8260A>G (p.Thr2754Ala)	472	ATM	Uncertain significance	587781414	RCV000129278\|RCV000467996\|RCV000489256;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108206680	108206680	11:g.108206680A>G	ClinGen:CA164107	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8261C>T (p.Thr2754Ile)	472	ATM	Uncertain significance	587779871	RCV000115263\|RCV000219340\|RCV000674526\|RCV003467034;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206681	108206681	NC_000011.9:g.108206681C>T	ClinGen:CA287015	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8262T>G (p.Thr2754=)	472	ATM	Likely benign	1057521506	RCV000428132\|RCV002062563;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206682	108206682		ClinGen:CA16605840	CN169374 not specified;
NM_000051.4(ATM):c.8264_8268del (p.Tyr2755fs)	472	ATM	Pathogenic	730881294	RCV000159623\|RCV000190640\|RCV000221664\|RCV003467216;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206684	108206688	NC_000011.9:g.108206684_108206688del	ClinGen:CA276029	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8264A>C (p.Tyr2755Ser)	472	ATM	Uncertain significance	1591199410	RCV001027336\|RCV001243992\|RCV001535475;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206684	108206684	11:g.108206684A>C	-
NM_000051.4(ATM):c.8264A>G (p.Tyr2755Cys)	472	ATM	Uncertain significance	-1	RCV002430200\|RCV003099889;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206684	108206684	108206684	-
NM_000051.4(ATM):c.8265T>C (p.Tyr2755=)	472	ATM	Likely benign	758654836	RCV000221847\|RCV000472072\|RCV001311790\|RCV001357323;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142	11	108206685	108206685		ClinGen:CA6266325
NM_000051.4(ATM):c.8265T>G (p.Tyr2755Ter)	472	ATM	Pathogenic	758654836	RCV000237049\|RCV001854865\|RCV002429152;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206685	108206685	11:g.108206685T>G	ClinGen:CA10584371	CN517202 not provided;
NM_000051.4(ATM):c.8265T>A (p.Tyr2755Ter)	472	ATM	Pathogenic	758654836	RCV001962985\|RCV002425323;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206685	108206685	108206685	-
NM_000051.4(ATM):c.8266A>T (p.Lys2756Ter)	472	ATM	Pathogenic/Likely pathogenic	371638537	RCV000122886\|RCV000128904\|RCV000212082\|RCV001356913\|RCV002272133\|RCV002483233;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108206686	108206686	NC_000011.9:g.108206686A>T	ClinGen:CA293899	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8266A>G (p.Lys2756Glu)	472	ATM	Uncertain significance	371638537	RCV000483443\|RCV001865438;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206686	108206686	11:g.108206686A>G	ClinGen:CA16619251	CN169374 not specified;
NM_000051.4(ATM):c.8267A>G (p.Lys2756Arg)	472	ATM	Conflicting interpretations of pathogenicity	1555128635	RCV000569218\|RCV001220325;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206687	108206687	NC_000011.9:g.108206687A>G	ClinGen:CA382562700	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8268G>T (p.Lys2756Asn)	472	ATM	Conflicting interpretations of pathogenicity	1555128642	RCV000564312\|RCV001213681\|RCV003229841\|RCV003465195;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206688	108206688	NC_000011.9:g.108206688G>T	ClinGen:CA382562703	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8268G>A (p.Lys2756=)	472	ATM	Conflicting interpretations of pathogenicity	1555128642	RCV001733362\|RCV001806252\|RCV002032729;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206688	108206688		-
NM_000051.4(ATM):c.8268+1G>T	472	ATM	Likely pathogenic	876658957	RCV000220293\|RCV000988734\|RCV003235141\|RCV003469024;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108206689	108206689	11:g.108206689G>T	ClinGen:CA10579293	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8268+1G>A	472	ATM	Likely pathogenic	876658957	RCV000479755\|RCV001310098\|RCV001377037\|RCV002431404;	N	MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206689	108206689	11:g.108206689G>A	ClinGen:CA16619252	CN169374 not specified;
NM_000051.4(ATM):c.8268+1G>C	472	ATM	Likely pathogenic	876658957	RCV002031852;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206689	108206689	108206689	-
NM_000051.4(ATM):c.8268+2T>C	472	ATM	Likely pathogenic	1565544020	RCV001197869\|RCV002561058;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206690	108206690	11:g.108206690T>C	-
NM_000051.4(ATM):c.8268+4A>G	472	ATM	Uncertain significance	2086804691	RCV001305605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206692	108206692	108206692	-
NM_000051.4(ATM):c.8268+5C>T	472	ATM	Conflicting interpretations of pathogenicity	1565544035	RCV000704122\|RCV001027340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108206693	108206693	NC_000011.9:g.108206693C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8268+6T>A	472	ATM	Conflicting interpretations of pathogenicity	747153940	RCV000229843\|RCV000584183\|RCV001697224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108206694	108206694	11:g.108206694T>A	ClinGen:CA6266326	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8268+7A>G	472	ATM	Likely benign	1057524565	RCV000418219\|RCV001473604;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206695	108206695	11:g.108206695A>G	ClinGen:CA16606126	CN169374 not specified;
NM_000051.4(ATM):c.8268+7A>T	472	ATM	Likely benign	1057524565	RCV002137678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206695	108206695	108206695	-
NM_000051.4(ATM):c.8268+8T>A	472	ATM	Likely benign	1263247290	RCV001418012;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206696	108206696	11:g.108206696T>A	-
NM_000051.4(ATM):c.8268+8T>G	472	ATM	Likely benign	-1	RCV002720660;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206696	108206696	NC_000011.9:g.108206696T>G	-
NM_000051.4(ATM):c.8268+9T>C	472	ATM	Likely benign	2136701769	RCV002127609;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206697	108206697	108206697	-
NM_000051.4(ATM):c.8268+11G>A	472	ATM	Likely benign	769204788	RCV000610174\|RCV001175899\|RCV002063959;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206699	108206699	11:g.108206699G>A	ClinGen:CA6266327	CN169374 not specified;
NM_000051.4(ATM):c.8268+13A>T	472	ATM	Likely benign	1400036072	RCV000582722\|RCV001354371\|RCV002061694\|RCV002506391;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:	11	108206701	108206701	11:g.108206701A>T	ClinGen:CA658683698	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8268+14C>T	472	ATM	Likely benign	1057520231	RCV000438234\|RCV002058882;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206702	108206702	11:g.108206702C>T	ClinGen:CA16606130	CN169374 not specified;
NM_000051.4(ATM):c.8268+15T>G	472	ATM	Likely benign	1555128691	RCV000603673\|RCV001186313\|RCV002529604;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206703	108206703	11:g.108206703T>G	ClinGen:CA658797757	CN169374 not specified;
NM_000051.4(ATM):c.8268+15T>A	472	ATM	Likely benign	1555128691	RCV002111767;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206703	108206703	108206703	-
NM_000051.4(ATM):c.8268+18T>C	472	ATM	Likely benign	1555128701	RCV000614909\|RCV001186687\|RCV002066676;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206706	108206706	11:g.108206706T>C	ClinGen:CA601727617	CN169374 not specified;
NM_000051.4(ATM):c.8268+22_8268+25del	472	ATM	Likely benign	746285826	RCV000776304\|RCV002061103;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206707	108206710	NC_000011.9:g.108206710_108206713del	-
NM_000051.4(ATM):c.8268+19G>T	472	ATM	Likely benign	1415660878	RCV002074488;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108206707	108206707	108206707	-
NM_000051.4(ATM):c.8269-18_8269-15del	472	ATM	Conflicting interpretations of pathogenicity	1064794684	RCV000481352\|RCV000580007\|RCV002056782;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213929	108213932	NC_000011.9:g.108213931_108213934del	ClinGen:CA16619253	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8269-16T>C	472	ATM	Likely benign	375051442	RCV001176542\|RCV002068170;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213933	108213933	11:g.108213933T>C	-
NM_000051.4(ATM):c.8269-14A>T	472	ATM	Benign/Likely benign	114320959	RCV000123715\|RCV000580949\|RCV000988735\|RCV001357049\|RCV001689672\|RCV002225396;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108213935	108213935	11:g.108213935A>T	ClinGen:CA289524	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8269-13del	472	ATM	Likely benign	2136938446	RCV002160431;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213936	108213936	108213935	-
NM_000051.4(ATM):c.8269-10_8269-9del	472	ATM	Conflicting interpretations of pathogenicity	587780641	RCV000115264\|RCV000776305\|RCV001081001\|RCV002222395;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108213938	108213939	NC_000011.9:g.108213939_108213940del	ClinGen:CA287018	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108343212)_(108365518_?)del	472	ATM	Pathogenic	-1	RCV000792146;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213939	108236245		-
NC_000011.10:g.(?_108343212)_(108354884_?)dup	472	ATM	Uncertain significance	-1	RCV001032059;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213939	108225611	-1	-
NC_000011.9:g.(?_108213939)_(108225611_?)del	472	ATM	Likely pathogenic	-1	RCV001377249;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213939	108225611	-1	-
NC_000011.9:g.(?_108213939)_(108218102_?)del	472	ATM	Pathogenic	-1	RCV001381792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213939	108218102	-1	-
NC_000011.9:g.(?_108213939)_(108236235_?)del	472	ATM	Pathogenic	-1	RCV001381793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213939	108236235	-1	-
NC_000011.9:g.(?_108213939)_(108236235_?)dup	472	ATM	Uncertain significance	-1	RCV002039020;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213939	108236235	-1	-
NM_000051.4(ATM):c.8269-9T>C	472	ATM	Likely benign	2136938827	RCV001399871;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213940	108213940	108213940	-
NM_000051.4(ATM):c.8269-7A>G	472	ATM	Uncertain significance	2087803205	RCV001298181;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213942	108213942	108213942	-
NM_000051.4(ATM):c.8269-6dup	472	ATM	Likely benign	-1	RCV002853132;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213942	108213943	NC_000011.9:g.108213943dup	-
NM_000051.4(ATM):c.8269-6C>T	472	ATM	Likely benign	1284643640	RCV002177171;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213943	108213943	108213943	-
NM_000051.4(ATM):c.8269-5T>G	472	ATM	Uncertain significance	1555135331	RCV000562682\|RCV001243643;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213944	108213944	NC_000011.9:g.108213944T>G	ClinGen:CA658656234	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8269-2A>T	472	ATM	Pathogenic	2136939497	RCV001942055;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213947	108213947	108213947	-
NM_001330368.2(C11orf65):c.641-34150del	472	ATM	Pathogenic	1555135341	RCV000568327\|RCV001090520\|RCV001390326;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213948	108213948	NC_000011.9:g.108213949del	ClinGen:CA658656235	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8269-1G>C	472	ATM	Pathogenic/Likely pathogenic	1565557607	RCV000773540\|RCV001869098;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213948	108213948	NC_000011.9:g.108213948G>C	-
NM_000051.4(ATM):c.8269-1G>A	472	ATM	Pathogenic/Likely pathogenic	-1	RCV003037429\|RCV003367961\|RCV003336803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213948	108213948	NC_000011.9:g.108213948G>A	-
NC_000011.10:g.(?_108343222)_(108369099_?)del	472	ATM	Pathogenic	-1	RCV000474950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213949	108239826		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8269G>A (p.Val2757Met)	472	ATM	Uncertain significance	761625350	RCV000458287\|RCV000572109\|RCV001310119\|RCV001591083;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108213949	108213949	NC_000011.9:g.108213949G>A	ClinGen:CA6266339	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8269G>C (p.Val2757Leu)	472	ATM	Uncertain significance	761625350	RCV000627943;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213949	108213949	NC_000011.9:g.108213949G>C	ClinGen:CA382516285	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8269G>T (p.Val2757Leu)	472	ATM	Uncertain significance	761625350	RCV001225185;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213949	108213949	11:g.108213949G>T	-
NM_000051.4(ATM):c.8270T>G (p.Val2757Gly)	472	ATM	Uncertain significance	201216427	RCV000484049\|RCV001027350\|RCV001367481;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213950	108213950	11:g.108213950T>G	ClinGen:CA16619254	CN169374 not specified;
NM_000051.4(ATM):c.8272G>T (p.Val2758Phe)	472	ATM	Uncertain significance	1555135373	RCV000574378\|RCV002530301;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213952	108213952	NC_000011.9:g.108213952G>T	ClinGen:CA382516291	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8275C>T (p.Pro2759Ser)	472	ATM	Uncertain significance	764906663	RCV000530410\|RCV000771939;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213955	108213955	11:g.108213955C>T	ClinGen:CA6266340	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8275C>G (p.Pro2759Ala)	472	ATM	Uncertain significance	764906663	RCV000799167\|RCV002406766;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213955	108213955	11:g.108213955C>G	-
NM_000051.4(ATM):c.8278del (p.Leu2760fs)	472	ATM	Pathogenic	1486627670	RCV001055664;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213955	108213955	11:g.108213955_108213955del	-
NM_000051.4(ATM):c.8276C>A (p.Pro2759His)	472	ATM	Uncertain significance	2087807752	RCV001064146\|RCV002429711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213956	108213956	11:g.108213956C>A	-
NM_000051.4(ATM):c.8276C>T (p.Pro2759Leu)	472	ATM	Uncertain significance	2087807752	RCV001067328\|RCV001525993;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213956	108213956	11:g.108213956C>T	-
NM_000051.4(ATM):c.8277C>T (p.Pro2759=)	472	ATM	Likely benign	878853548	RCV000231486\|RCV001027354;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213957	108213957		ClinGen:CA10582860	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8278C>G (p.Leu2760Val)	472	ATM	Uncertain significance	758609900	RCV000213288\|RCV000688832;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213958	108213958	11:g.108213958C>G	ClinGen:CA6266343	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8283_8284del (p.Gln2762fs)	472	ATM	Pathogenic	775899653	RCV000571482\|RCV002528100\|RCV003459342;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213958	108213959	NC_000011.9:g.108213959TC[2]	ClinGen:CA658656238	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8281_8284del (p.Gln2762fs)	472	ATM	Pathogenic	775899653	RCV000792593\|RCV003316809;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213958	108213961	11:g.108213958_108213961del	-
NM_000051.4(ATM):c.8278C>T (p.Leu2760Phe)	472	ATM	Uncertain significance	758609900	RCV001027355\|RCV001231393\|RCV002469327;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108213958	108213958	11:g.108213958C>T	-
NM_000051.4(ATM):c.8279T>C (p.Leu2760Pro)	472	ATM	Uncertain significance	1060501578	RCV000471896;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213959	108213959	NC_000011.9:g.108213959T>C	ClinGen:CA16613507	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8283T>G (p.Ser2761=)	472	ATM	Likely benign	1591247541	RCV001429621;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213963	108213963		-
NM_000051.4(ATM):c.8284C>T (p.Gln2762Ter)	472	ATM	Pathogenic	751574257	RCV000771940\|RCV001856006;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213964	108213964	NC_000011.9:g.108213964C>T	-
NM_000051.4(ATM):c.8284C>G (p.Gln2762Glu)	472	ATM	Uncertain significance	751574257	RCV002016173;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213964	108213964	108213964	-
NM_000051.4(ATM):c.8287C>T (p.Arg2763Ter)	472	ATM	Pathogenic	876659872	RCV000214803\|RCV000538433\|RCV001531760;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108213967	108213967	11:g.108213967C>T	ClinGen:CA10579294	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8287C>G (p.Arg2763Gly)	472	ATM	Uncertain significance	876659872	RCV001201763;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213967	108213967	11:g.108213967C>G	-
NM_000051.4(ATM):c.8288del (p.Arg2763fs)	472	ATM	Pathogenic/Likely pathogenic	886039630	RCV000255851\|RCV001027365\|RCV001354266\|RCV001859487;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213968	108213968	11:g.108213968_108213968del	ClinGen:CA10588510	CN517202 not provided;
NM_000051.4(ATM):c.8288G>A (p.Arg2763Gln)	472	ATM	Uncertain significance	551411717	RCV000556125\|RCV000575048\|RCV002284403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108213968	108213968	11:g.108213968G>A	ClinGen:CA6266346	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8289A>G (p.Arg2763=)	472	ATM	Likely benign	2136941755	RCV001468254;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213969	108213969		-
NM_000051.4(ATM):c.8292_8293del (p.Ser2764fs)	472	ATM	Pathogenic/Likely pathogenic	879254036	RCV000236646\|RCV000477401\|RCV000566679\|RCV003475838;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213971	108213972	11:g.108213971_108213972del	ClinGen:CA10584372	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8291GTG[1] (p.Gly2765del)	472	ATM	Uncertain significance	1565557806	RCV000704344;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213971	108213973	NC_000011.9:g.108213971GTG[1]	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8291G>C (p.Ser2764Thr)	472	ATM	Uncertain significance	-1	RCV003059099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213971	108213971	NC_000011.9:g.108213971G>C	-
NM_000051.4(ATM):c.8292T>C (p.Ser2764=)	472	ATM	Likely benign	781690523	RCV001457901\|RCV001526106;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213972	108213972		-
NM_000051.4(ATM):c.8293G>A (p.Gly2765Ser)	472	ATM	Pathogenic/Likely pathogenic	748634900	RCV000165932\|RCV000200060\|RCV003468762;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213973	108213973	11:g.108213973G>A	ClinGen:CA194563,UniProtKB:Q13315#VAR_010876	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8293G>T (p.Gly2765Cys)	472	ATM	Uncertain significance	748634900	RCV002003971;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213973	108213973	108213973	-
NM_000051.4(ATM):c.8294G>A (p.Gly2765Asp)	472	ATM	Conflicting interpretations of pathogenicity	1565557835	RCV000772361\|RCV001850961;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213974	108213974	NC_000011.9:g.108213974G>A	-
NM_000051.4(ATM):c.8294G>T (p.Gly2765Val)	472	ATM	Conflicting interpretations of pathogenicity	1565557835	RCV001027369\|RCV001862405;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213974	108213974	11:g.108213974G>T	-
NM_000051.4(ATM):c.8294G>C (p.Gly2765Ala)	472	ATM	Likely pathogenic	-1	RCV002999492;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213974	108213974	NC_000011.9:g.108213974G>C	-
NM_000051.4(ATM):c.8296G>A (p.Val2766Ile)	472	ATM	Uncertain significance	730881322	RCV000159658\|RCV000226399\|RCV000776306\|RCV003467221;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213976	108213976	NC_000011.9:g.108213976G>A	ClinGen:CA298071	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8297T>G (p.Val2766Gly)	472	ATM	Uncertain significance	1064796249	RCV000486302\|RCV001851245;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213977	108213977	11:g.108213977T>G	ClinGen:CA16619255	CN169374 not specified;
NM_000051.4(ATM):c.8299C>T (p.Leu2767Phe)	472	ATM	Uncertain significance	786203975	RCV000167511\|RCV001770131\|RCV001850370;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213979	108213979	11:g.108213979C>T	ClinGen:CA198487	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8300T>G (p.Leu2767Arg)	472	ATM	Uncertain significance	1591247825	RCV000816755\|RCV001772119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108213980	108213980	11:g.108213980T>G	-
NM_000051.4(ATM):c.8300T>C (p.Leu2767Pro)	472	ATM	Uncertain significance	1591247825	RCV001323753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213980	108213980	108213980	-
NM_000051.4(ATM):c.8300T>A (p.Leu2767His)	472	ATM	Uncertain significance	-1	RCV003015711;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213980	108213980	NC_000011.9:g.108213980T>A	-
NM_000051.4(ATM):c.8301T>G (p.Leu2767=)	472	ATM	Likely benign	1060504303	RCV001443466;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213981	108213981		ClinGen:CA16613508
NM_000051.4(ATM):c.8301T>C (p.Leu2767=)	472	ATM	Likely benign	1060504303	RCV002187193;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213981	108213981		-
NM_000051.4(ATM):c.8305_8317del (p.Trp2769fs)	472	ATM	Pathogenic/Likely pathogenic	786202318	RCV000165065\|RCV000484455\|RCV000627855\|RCV003468732;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213982	108213994	11:g.108213982_108213994del	ClinGen:CA192423	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8302G>T (p.Glu2768Ter)	472	ATM	Pathogenic	1555135513	RCV001055464;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213982	108213982	11:g.108213982G>T	-
NM_000051.4(ATM):c.8303A>T (p.Glu2768Val)	472	ATM	Uncertain significance	2136943134	RCV001892929\|RCV003166975;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213983	108213983	108213983	-
NM_000051.4(ATM):c.8304A>G (p.Glu2768=)	472	ATM	Likely benign	-1	RCV003044569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213984	108213984		-
NM_000051.4(ATM):c.8305T>C (p.Trp2769Arg)	472	ATM	Uncertain significance	1591247945	RCV000796454;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213985	108213985	11:g.108213985T>C	-
NM_000051.4(ATM):c.8305del (p.Trp2769fs)	472	ATM	Pathogenic/Likely pathogenic	-1	RCV002833587\|RCV003464607;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213985	108213985	NC_000011.9:g.108213985del	-
NM_000051.4(ATM):c.8307G>A (p.Trp2769Ter)	472	ATM	Pathogenic/Likely pathogenic	778269655	RCV000169516\|RCV000579481\|RCV001564923\|RCV003468846;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108213987	108213987	NC_000011.9:g.108213987G>A	ClinGen:CA334794	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8307G>T (p.Trp2769Cys)	472	ATM	Uncertain significance	778269655	RCV001930815;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213987	108213987	108213987	-
NM_000051.4(ATM):c.8309G>T (p.Cys2770Phe)	472	ATM	Uncertain significance	2087816795	RCV001318319\|RCV002431907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213989	108213989	108213989	-
NM_000051.4(ATM):c.8310C>G (p.Cys2770Trp)	472	ATM	Uncertain significance	1555135544	RCV001941058;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213990	108213990	108213990	-
NM_000051.4(ATM):c.8311A>G (p.Thr2771Ala)	472	ATM	Uncertain significance	876660587	RCV000215289\|RCV000532336\|RCV001582755;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108213991	108213991	11:g.108213991A>G	ClinGen:CA10579295	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8312C>T (p.Thr2771Ile)	472	ATM	Uncertain significance	771781881	RCV000586326\|RCV001017535\|RCV001248211\|RCV002506397;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108213992	108213992	11:g.108213992C>T	ClinGen:CA382516366	CN517202 not provided;
NM_000051.4(ATM):c.8313A>C (p.Thr2771=)	472	ATM	Likely benign	1555135563	RCV000571875\|RCV000988736;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213993	108213993		ClinGen:CA476672607	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8314_8316del (p.Gly2772del)	472	ATM	Uncertain significance	2087818644	RCV001213281;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213993	108213995	11:g.108213993_108213995del	-
NM_000051.4(ATM):c.8313A>G (p.Thr2771=)	472	ATM	Likely benign	1555135563	RCV002125540;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213993	108213993		-
NM_000051.4(ATM):c.8314G>A (p.Gly2772Arg)	472	ATM	Conflicting interpretations of pathogenicity	1064794239	RCV000486226\|RCV000565973\|RCV000670258;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213994	108213994	11:g.108213994G>A	ClinGen:CA16619256	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8315G>C (p.Gly2772Ala)	472	ATM	Uncertain significance	775293524	RCV000572687\|RCV001206473;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213995	108213995	NC_000011.9:g.108213995G>C	ClinGen:CA382516369	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8315G>A (p.Gly2772Glu)	472	ATM	Uncertain significance	775293524	RCV000579864\|RCV001051232;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213995	108213995	NC_000011.9:g.108213995G>A	ClinGen:CA6266351	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8319_8323dup (p.Pro2775fs)	472	ATM	Pathogenic	1555135596	RCV000474586\|RCV001017539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213997	108213998	NC_000011.9:g.108213999_108214003dup	ClinGen:CA16613162	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8317A>G (p.Thr2773Ala)	472	ATM	Uncertain significance	2087819658	RCV001041250\|RCV002427506;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213997	108213997	11:g.108213997A>G	-
NM_000051.4(ATM):c.8318C>A (p.Thr2773Asn)	472	ATM	Uncertain significance	786203321	RCV000166582\|RCV001850348;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213998	108213998	11:g.108213998C>A	ClinGen:CA196229	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8318C>T (p.Thr2773Ile)	472	ATM	Uncertain significance	786203321	RCV001017538\|RCV001043902;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108213998	108213998	11:g.108213998C>T	-
NM_000051.4(ATM):c.8319T>C (p.Thr2773=)	472	ATM	Likely benign	1591248170	RCV001418888\|RCV003169314;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108213999	108213999		-
NM_000051.4(ATM):c.8320G>C (p.Val2774Leu)	472	ATM	Uncertain significance	2087821053	RCV001968049;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214000	108214000	108214000	-
NM_000051.4(ATM):c.8321_8322delinsA (p.Val2774fs)	472	ATM	Pathogenic	1060501630	RCV000464272\|RCV001185536;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214001	108214002	NC_000011.9:g.108214001_108214002delinsA	ClinGen:CA16613164	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8321T>C (p.Val2774Ala)	472	ATM	Uncertain significance	776988084	RCV001229826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214001	108214001	11:g.108214001T>C	-
NM_000051.4(ATM):c.8325del (p.Ile2776fs)	472	ATM	Pathogenic	886039623	RCV000255611\|RCV000494589\|RCV001061492;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214002	108214002	11:g.108214002_108214002del	ClinGen:CA10588511	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8322C>A (p.Val2774=)	472	ATM	Likely benign	1060504267	RCV000474507;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214002	108214002		ClinGen:CA16613167	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8322C>T (p.Val2774=)	472	ATM	Likely benign	-1	RCV002807305;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214002	108214002		-
NM_000051.4(ATM):c.8323C>T (p.Pro2775Ser)	472	ATM	Uncertain significance	2087822375	RCV001346753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214003	108214003	108214003	-
NM_000051.4(ATM):c.8325C>A (p.Pro2775=)	472	ATM	Likely benign	-1	RCV002996571;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214005	108214005		-
NM_000051.4(ATM):c.8327T>C (p.Ile2776Thr)	472	ATM	Conflicting interpretations of pathogenicity	746475628	RCV000217725\|RCV000229175\|RCV000478838\|RCV001818515\|RCV003468980;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214007	108214007	11:g.108214007T>C	ClinGen:CA6266352	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8327T>A (p.Ile2776Asn)	472	ATM	Uncertain significance	746475628	RCV001017553\|RCV001209228;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214007	108214007	11:g.108214007T>A	-
NM_000051.4(ATM):c.8327T>G (p.Ile2776Ser)	472	ATM	Uncertain significance	746475628	RCV001923480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214007	108214007	108214007	-
NM_000051.4(ATM):c.8328T>G (p.Ile2776Met)	472	ATM	Uncertain significance	-1	RCV002730999;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214008	108214008	NC_000011.9:g.108214008T>G	-
NM_000051.4(ATM):c.8329G>A (p.Gly2777Ser)	472	ATM	Uncertain significance	2087823795	RCV001063472\|RCV002259080\|RCV003467819;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214009	108214009	11:g.108214009G>A	-
NM_000051.4(ATM):c.8330G>T (p.Gly2777Val)	472	ATM	Uncertain significance	879254240	RCV000236765\|RCV000569573\|RCV002518464;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214010	108214010	NC_000011.9:g.108214010G>T	ClinGen:CA10584373	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8330G>A (p.Gly2777Asp)	472	ATM	Uncertain significance	879254240	RCV001215602;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214010	108214010	11:g.108214010G>A	-
NM_000051.4(ATM):c.8333A>C (p.Glu2778Ala)	472	ATM	Uncertain significance	876659792	RCV000222722\|RCV001058866\|RCV003441801;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108214013	108214013	11:g.108214013A>C	ClinGen:CA10579296	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8341_8343del (p.Val2781del)	472	ATM	Uncertain significance	1178661659	RCV000564903\|RCV001040443;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214019	108214021	11:g.108214019_108214021del	ClinGen:CA658656243	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8339T>C (p.Leu2780Pro)	472	ATM	Uncertain significance	2087825562	RCV001053549;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214019	108214019	11:g.108214019T>C	-
NM_000051.4(ATM):c.8343del (p.Asn2782fs)	472	ATM	Pathogenic	-1	RCV003021167;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214022	108214022	NC_000011.9:g.108214023del	-
NM_000051.4(ATM):c.8344A>G (p.Asn2782Asp)	472	ATM	Uncertain significance	2136947170	RCV001908474;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214024	108214024	108214024	-
NM_000051.4(ATM):c.8345A>G (p.Asn2782Ser)	472	ATM	Uncertain significance	2136947221	RCV001931927;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214025	108214025	108214025	-
NM_000051.4(ATM):c.8346C>T (p.Asn2782=)	472	ATM	Likely benign	999357615	RCV000564436\|RCV001442169;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214026	108214026		ClinGen:CA228364884	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8348A>G (p.Asn2783Ser)	472	ATM	Uncertain significance	2087826921	RCV001959341\|RCV002407204;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214028	108214028	108214028	-
NM_000051.4(ATM):c.8350G>A (p.Glu2784Lys)	472	ATM	Uncertain significance	1479612629	RCV001998792;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214030	108214030	108214030	-
NM_000051.4(ATM):c.8353G>A (p.Asp2785Asn)	472	ATM	Conflicting interpretations of pathogenicity	587782417	RCV000131464\|RCV000198515\|RCV000479519\|RCV002469022;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108214033	108214033	11:g.108214033G>A	ClinGen:CA168194	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8353G>C (p.Asp2785His)	472	ATM	Uncertain significance	-1	RCV002412598\|RCV003099921\|RCV003464493;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214033	108214033	108214033	-
NM_000051.4(ATM):c.8354A>G (p.Asp2785Gly)	472	ATM	Uncertain significance	1591248589	RCV000810420\|RCV002465786;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108214034	108214034	11:g.108214034A>G	-
NM_000051.4(ATM):c.8355T>C (p.Asp2785=)	472	ATM	Likely benign	372834825	RCV000215084\|RCV000428559\|RCV000463261\|RCV001697250;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108214035	108214035		ClinGen:CA6266353	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8356G>T (p.Gly2786Cys)	472	ATM	Uncertain significance	1167044647	RCV001343323;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214036	108214036	108214036	-
NM_000051.4(ATM):c.8356G>A (p.Gly2786Ser)	472	ATM	Uncertain significance	1167044647	RCV001361990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214036	108214036	108214036	-
NM_000051.4(ATM):c.8357del (p.Gly2786fs)	472	ATM	Pathogenic	2136948126	RCV001930853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214036	108214036	108214035	-
NM_000051.4(ATM):c.8359G>A (p.Ala2787Thr)	472	ATM	Uncertain significance	1591248677	RCV001017599\|RCV002549458;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214039	108214039	11:g.108214039G>A	-
NM_000051.4(ATM):c.8359G>C (p.Ala2787Pro)	472	ATM	Uncertain significance	-1	RCV002301964\|RCV003164511;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214039	108214039	108214039	-
NM_000051.4(ATM):c.8360C>T (p.Ala2787Val)	472	ATM	Uncertain significance	879253877	RCV000236706\|RCV000475993\|RCV001017604\|RCV003235159;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108214040	108214040	NC_000011.9:g.108214040C>T	ClinGen:CA10584374	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8360C>G (p.Ala2787Gly)	472	ATM	Uncertain significance	879253877	RCV001366483;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214040	108214040	108214040	-
NM_000051.4(ATM):c.8362C>A (p.His2788Asn)	472	ATM	Uncertain significance	-1	RCV002895144;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214042	108214042	NC_000011.9:g.108214042C>A	-
NM_000051.4(ATM):c.8363A>C (p.His2788Pro)	472	ATM	Uncertain significance	1555135716	RCV000561588\|RCV002528095;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214043	108214043	11:g.108214043A>C	ClinGen:CA382516507	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8363A>G (p.His2788Arg)	472	ATM	Uncertain significance	1555135716	RCV000772534\|RCV001040220;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214043	108214043	NC_000011.9:g.108214043A>G	-
NM_000051.4(ATM):c.8364T>G (p.His2788Gln)	472	ATM	Uncertain significance	1591248749	RCV002024825\|RCV002265060;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108214044	108214044	108214044	-
NM_000051.4(ATM):c.8368del (p.Arg2790fs)	472	ATM	Likely pathogenic	2136948975	RCV001376110;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214045	108214045	108214044	-
NM_000051.4(ATM):c.8366A>G (p.Lys2789Arg)	472	ATM	Uncertain significance	1591248788	RCV000797342;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214046	108214046	11:g.108214046A>G	-
NM_000051.4(ATM):c.8367delinsTT (p.Lys2789fs)	472	ATM	Pathogenic	786202418	RCV000165220\|RCV000627937;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214047	108214047	11:g.108214047_108214048insT	ClinGen:CA192805	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8367A>G (p.Lys2789=)	472	ATM	Likely benign	1393366622	RCV001461035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214047	108214047		-
NM_000051.4(ATM):c.8371_8374del (p.Tyr2791fs)	472	ATM	Pathogenic/Likely pathogenic	1064793046	RCV000481743\|RCV000581187\|RCV000696221\|RCV003470522;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214050	108214053	NC_000011.9:g.108214051_108214054del	ClinGen:CA16619257	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8370A>C (p.Arg2790Ser)	472	ATM	Uncertain significance	1010206130	RCV001017643\|RCV001040393\|RCV003317417;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108214050	108214050	11:g.108214050A>C	-
NM_000051.4(ATM):c.8371T>C (p.Tyr2791His)	472	ATM	Uncertain significance	1020805015	RCV001269199\|RCV001304784\|RCV002436988\|RCV003153970;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108214051	108214051	11:g.108214051T>C	-
NM_000051.4(ATM):c.8371T>A (p.Tyr2791Asn)	472	ATM	Uncertain significance	1020805015	RCV001894825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214051	108214051	108214051	-
NM_000051.4(ATM):c.8372dup (p.Tyr2791Ter)	472	ATM	Pathogenic	-1	RCV003034323;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214051	108214052	NC_000011.9:g.108214052dup	-
NM_000051.4(ATM):c.8372A>G (p.Tyr2791Cys)	472	ATM	Uncertain significance	534914490	RCV000808738\|RCV002440732;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214052	108214052	11:g.108214052A>G	-
NM_000051.4(ATM):c.8373C>T (p.Tyr2791=)	472	ATM	Likely benign	1060504292	RCV001017645\|RCV001413457;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214053	108214053		ClinGen:CA16613217
NM_000051.4(ATM):c.8373C>A (p.Tyr2791Ter)	472	ATM	Pathogenic/Likely pathogenic	1060504292	RCV000479411\|RCV000533131\|RCV001177309\|RCV003470552;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214053	108214053	11:g.108214053C>A	ClinGen:CA16619258	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8373C>G (p.Tyr2791Ter)	472	ATM	Pathogenic	1060504292	RCV000806145\|RCV003353038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214053	108214053	11:g.108214053C>G	-
NM_000051.4(ATM):c.8373del (p.Arg2790_Tyr2791insTer)	472	ATM	Pathogenic	2136949935	RCV001953005;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214053	108214053	108214052	-
NM_000051.4(ATM):c.8377C>T (p.Pro2793Ser)	472	ATM	Uncertain significance	1174335574	RCV000562159\|RCV000696104\|RCV003403361;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108214057	108214057	11:g.108214057C>T	ClinGen:CA382516540	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8377C>A (p.Pro2793Thr)	472	ATM	Uncertain significance	1174335574	RCV001930988;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214057	108214057	108214057	-
NM_000051.4(ATM):c.8382T>A (p.Asn2794Lys)	472	ATM	Uncertain significance	1555135797	RCV000628000;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214062	108214062	11:g.108214062T>A	ClinGen:CA382516550	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8383G>T (p.Asp2795Tyr)	472	ATM	Uncertain significance	1565558417	RCV000774212\|RCV000800265;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214063	108214063	NC_000011.9:g.108214063G>T	-
NM_000051.4(ATM):c.8383G>A (p.Asp2795Asn)	472	ATM	Uncertain significance	1565558417	RCV000798842;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214063	108214063	11:g.108214063G>A	-
NM_000051.4(ATM):c.8384A>C (p.Asp2795Ala)	472	ATM	Uncertain significance	2087834639	RCV001229052;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214064	108214064	11:g.108214064A>C	-
NM_000051.4(ATM):c.8395_8404dup (p.Gln2802fs)	472	ATM	Pathogenic/Likely pathogenic	786202800	RCV001385068\|RCV003469713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214064	108214065	108214064	-
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs)	472	ATM	Pathogenic/Likely pathogenic	786202800	RCV000165801\|RCV000204163\|RCV000255017\|RCV001574077\|RCV002221503\|RCV003162705;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|MONDO:MONDO:0016419,MedGen:C0346153,OMI	11	108214065	108214074	11:g.108214065_108214074del	ClinGen:CA194225	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8385T>C (p.Asp2795=)	472	ATM	Likely benign	1251164631	RCV000944533\|RCV002298804\|RCV002434303;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214065	108214065		-
NM_000051.4(ATM):c.8386T>C (p.Phe2796Leu)	472	ATM	Uncertain significance	1591249094	RCV000819464\|RCV001017656;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214066	108214066	11:g.108214066T>C	-
NM_000051.4(ATM):c.8389A>G (p.Ser2797Gly)	472	ATM	Uncertain significance	761629908	RCV000708660\|RCV001062481;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214069	108214069	11:g.108214069A>G	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8390G>A (p.Ser2797Asn)	472	ATM	Uncertain significance	1203037698	RCV000628170\|RCV001188329;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214070	108214070	NC_000011.9:g.108214070G>A	ClinGen:CA382516614	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8391T>C (p.Ser2797=)	472	ATM	Conflicting interpretations of pathogenicity	566485657	RCV000233368\|RCV000423464\|RCV000573042\|RCV001357039;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|Human Phenotype Ontology:HP:0012114,MONDO:MONDO:0002447,MedGen:C0476089,OMIM:608089	11	108214071	108214071		ClinGen:CA6266355	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8392G>T (p.Ala2798Ser)	472	ATM	Uncertain significance	1591249178	RCV000795129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214072	108214072	11:g.108214072G>T	-
NM_000051.4(ATM):c.8392_8393delinsTT (p.Ala2798Phe)	472	ATM	Uncertain significance	2087837804	RCV001050107;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214072	108214073	NC_000011.9:g.108214072_108214073delinsTT	-
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp)	472	ATM	Uncertain significance	772992098	RCV000204614\|RCV000218858\|RCV000484197\|RCV003468957;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214073	108214073	11:g.108214073C>A	ClinGen:CA348832	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8394C>T (p.Ala2798=)	472	ATM	Likely benign	2136951901	RCV001447746\|RCV002439056;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214074	108214074		-
NM_000051.4(ATM):c.8397del (p.Gln2800fs)	472	ATM	Pathogenic	587781837	RCV000130132\|RCV000255447\|RCV000499426\|RCV000801010\|RCV003460912;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:C3469522\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214075	108214075	NC_000011.9:g.108214077del	ClinGen:CA165770	C3469522 Breast cancer, susceptibility to;
NM_000051.4(ATM):c.8395T>G (p.Phe2799Val)	472	ATM	Uncertain significance	730881323	RCV000159659\|RCV000572659\|RCV001850249;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214075	108214075	NC_000011.9:g.108214075T>G	ClinGen:CA298074	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8397_8398delinsAA (p.Phe2799_Gln2800delinsLeuLys)	472	ATM	Uncertain significance	2136952226	RCV002025806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214077	108214078	108214077	-
NM_000051.4(ATM):c.8398C>T (p.Gln2800Ter)	472	ATM	Pathogenic	2136952289	RCV001525225\|RCV001872074;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214078	108214078	108214078	-
NM_000051.4(ATM):c.8399A>C (p.Gln2800Pro)	472	ATM	Uncertain significance	879254273	RCV000235330\|RCV000572446\|RCV001854874;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214079	108214079	NC_000011.9:g.108214079A>C	ClinGen:CA10584375	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8400G>C (p.Gln2800His)	472	ATM	Uncertain significance	879253901	RCV000235765\|RCV000561460\|RCV000628196;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214080	108214080	11:g.108214080G>C	ClinGen:CA10584376	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8402G>T (p.Cys2801Phe)	472	ATM	Uncertain significance	2136952675	RCV001966421;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214082	108214082	108214082	-
NM_000051.4(ATM):c.8403C>A (p.Cys2801Ter)	472	ATM	Pathogenic	1555135852	RCV000628066\|RCV003162774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214083	108214083	NC_000011.9:g.108214083C>A	ClinGen:CA382516731	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8403C>T (p.Cys2801=)	472	ATM	Likely benign	1555135852	RCV002148966\|RCV002443251;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214083	108214083		-
NM_000051.4(ATM):c.8405A>G (p.Gln2802Arg)	472	ATM	Uncertain significance	730881324	RCV000159660\|RCV000464909\|RCV000562069\|RCV003467222;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214085	108214085	NC_000011.9:g.108214085A>G	ClinGen:CA298077	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8406A>G (p.Gln2802=)	472	ATM	Likely benign	2136952999	RCV002195890;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214086	108214086		-
NM_000051.4(ATM):c.8413dup (p.Met2805fs)	472	ATM	Pathogenic	2136953216	RCV001386338;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214089	108214090	108214089	-
NM_000051.4(ATM):c.8410A>C (p.Lys2804Gln)	472	ATM	Uncertain significance	878853549	RCV000227143;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214090	108214090	11:g.108214090A>C	ClinGen:CA10582861	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8413A>G (p.Met2805Val)	472	ATM	Uncertain significance	-1	RCV002701549\|RCV003475414;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214093	108214093	NC_000011.9:g.108214093A>G	-
NM_000051.4(ATM):c.8414del (p.Met2805fs)	472	ATM	Pathogenic	2087842345	RCV001211762;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214094	108214094	11:g.108214094_108214094del	-
NM_000051.4(ATM):c.8416_8418+5del	472	ATM	Likely pathogenic	1591249480	RCV000796009\|RCV001017726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214095	108214102	11:g.108214095_108214102del	-
NM_000051.4(ATM):c.8417T>C (p.Met2806Thr)	472	ATM	Uncertain significance	1234463032	RCV000572738\|RCV000804686;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214097	108214097	11:g.108214097T>C	ClinGen:CA382516869	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8418+1_8418+3del	472	ATM	Likely pathogenic	2136953867	RCV002045818;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214097	108214099	108214096	-
NM_000051.4(ATM):c.8418G>A (p.Met2806Ile)	472	ATM	Conflicting interpretations of pathogenicity	762744146	RCV000545748\|RCV002448585;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214098	108214098	11:g.108214098G>A	ClinGen:CA382516878	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8418G>T (p.Met2806Ile)	472	ATM	Conflicting interpretations of pathogenicity	762744146	RCV002022214\|RCV002442984;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214098	108214098	108214098	-
NM_000051.4(ATM):c.8418+5_8418+8del	472	ATM	Pathogenic	730881295	RCV000159624\|RCV000204238\|RCV000212083\|RCV001258123\|RCV001171409\|RCV001355024;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:C3469522; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C034615	11	108214099	108214102	NC_000011.9:g.108214099GTGA[1]	ClinGen:CA298009	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8418+1G>A	472	ATM	Likely pathogenic	766533795	RCV000409887;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214099	108214099	11:g.108214099G>A	ClinGen:CA6266357	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8418+2T>C	472	ATM	Likely pathogenic	1060501713	RCV000462857\|RCV000494154;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214100	108214100	NC_000011.9:g.108214100T>C	ClinGen:CA16613510	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8418+4A>C	472	ATM	Uncertain significance	-1	RCV003337936;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214102	108214102		-
NM_000051.4(ATM):c.8418+5G>A	472	ATM	Pathogenic/Likely pathogenic	1305740166	RCV000566313\|RCV001234263\|RCV003470809;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108214103	108214103	11:g.108214103G>A	ClinGen:CA601698826	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8418+5G>T	472	ATM	Conflicting interpretations of pathogenicity	1305740166	RCV000570679\|RCV000628150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214103	108214103	11:g.108214103G>T	ClinGen:CA601698827	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8418+6T>C	472	ATM	Uncertain significance	1555135928	RCV000580707\|RCV001220481;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214104	108214104	NC_000011.9:g.108214104T>C	ClinGen:CA658683704	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8418+7G>A	472	ATM	Likely benign	2136954579	RCV001503358;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214105	108214105	108214105	-
NM_000051.4(ATM):c.8418+8A>T	472	ATM	Likely benign	1591249687	RCV000939497;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214106	108214106	11:g.108214106A>T	-
NM_000051.4(ATM):c.8418+8A>G	472	ATM	Likely benign	1591249687	RCV001474205;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214106	108214106	11:g.108214106A>G	-
NM_000051.4(ATM):c.8418+9C>T	472	ATM	Likely benign	-1	RCV003024158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214107	108214107	NC_000011.9:g.108214107C>T	-
NM_000051.4(ATM):c.8418+11C>A	472	ATM	Likely benign	1277361086	RCV001187243\|RCV002068462;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214109	108214109	11:g.108214109C>A	-
NM_000051.4(ATM):c.8418+11C>G	472	ATM	Likely benign	-1	RCV002846385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214109	108214109	NC_000011.9:g.108214109C>G	-
NM_000051.4(ATM):c.8418+13C>T	472	ATM	Benign/Likely benign	372552946	RCV000159597\|RCV000579622\|RCV002053910;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214111	108214111	NC_000011.9:g.108214111C>T	ClinGen:CA297971	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8418+13C>G	472	ATM	Likely benign	-1	RCV002982862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214111	108214111	NC_000011.9:g.108214111C>G	-
NM_000051.4(ATM):c.8418+14A>C	472	ATM	Likely benign	1555135939	RCV000582560\|RCV002061695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214112	108214112	11:g.108214112A>C	ClinGen:CA658683706	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8418+15A>C	472	ATM	Likely benign	1565558731	RCV000776945\|RCV002535586;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214113	108214113	NC_000011.9:g.108214113A>C	-
NM_000051.4(ATM):c.8418+17A>G	472	ATM	Likely benign	2136955270	RCV002147073;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108214115	108214115	108214115	-
NM_000051.4(ATM):c.8418+704G>T	472	ATM	Uncertain significance	-1	RCV002932695\|RCV003170579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108214802	108214802	NC_000011.9:g.108214802G>T	-
NC_000011.9:g.(?_108215207)_(108216339_?)del	472	ATM	Uncertain significance	-1	RCV002008411;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108215207	108216339	-1	-
NM_000051.4(ATM):c.8419-22TA[2]	472	ATM	Likely benign	1257766623	RCV001967786;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216448	108216451	108216447	-
NM_000051.4(ATM):c.8419-19A>G	472	ATM	Benign/Likely benign	12279930	RCV000128896\|RCV000679149\|RCV000672211\|RCV001682840\|RCV002225417\|RCV003149881;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN221562	11	108216451	108216451	11:g.108216451A>G	ClinGen:CA163523	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8419-18T>C	472	ATM	Likely benign	2088256725	RCV001182833\|RCV002068334;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216452	108216452	11:g.108216452T>C	-
NM_000051.4(ATM):c.8419-17A>G	472	ATM	Likely benign	1057520452	RCV000426340\|RCV000584021\|RCV002061580;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216453	108216453	11:g.108216453A>G	ClinGen:CA16605841	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8419-16_8419-13del	472	ATM	Conflicting interpretations of pathogenicity	774275044	RCV000485799\|RCV000771183\|RCV002063724\|RCV002465684\|RCV003419801;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|	11	108216454	108216457	NC_000011.9:g.108216454_108216457del	ClinGen:CA6266368	CN169374 not specified;
NM_000051.4(ATM):c.8419-16T>C	472	ATM	Likely benign	2137021914	RCV002177625;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216454	108216454	108216454	-
NM_000051.4(ATM):c.8419-14T>C	472	ATM	Likely benign	1441150092	RCV002145544;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216456	108216456	108216456	-
NM_000051.4(ATM):c.8419-14T>A	472	ATM	Likely benign	-1	RCV003052483;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216456	108216456	NC_000011.9:g.108216456T>A	-
NM_000051.4(ATM):c.8419-11T>C	472	ATM	Likely benign	-1	RCV003061994;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216459	108216459	NC_000011.9:g.108216459T>C	-
NM_000051.4(ATM):c.8419-10C>G	472	ATM	Likely benign	2137022388	RCV001970374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216460	108216460	108216460	-
NM_000051.4(ATM):c.8419-7_8419-4del	472	ATM	Uncertain significance	730881306	RCV000159635\|RCV000628073\|RCV000771941;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216461	108216464	NC_000011.9:g.108216463_108216466del	ClinGen:CA298020	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8419-8A>G	472	ATM	Conflicting interpretations of pathogenicity	567215034	RCV000583342\|RCV000628209\|RCV001549526\|RCV001821699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108216462	108216462	11:g.108216462A>G	ClinGen:CA6266369	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8419-7T>C	472	ATM	Likely benign	1591263768	RCV001496328;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216463	108216463	11:g.108216463T>C	-
NM_000051.4(ATM):c.8419-6T>G	472	ATM	Uncertain significance	-1	RCV002852162;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216464	108216464	NC_000011.9:g.108216464T>G	-
NM_000051.4(ATM):c.8419-2A>G	472	ATM	Likely pathogenic	1555137917	RCV000628064;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216468	108216468	NC_000011.9:g.108216468A>G	ClinGen:CA382517699	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8419-2A>C	472	ATM	Likely pathogenic	1555137917	RCV001378008\|RCV003469632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216468	108216468	108216468	-
NM_001330368.2(C11orf65):c.641-36671del	472	ATM	Likely pathogenic	2137023331	RCV002238595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216469	108216469	108216468	-
NM_000051.4(ATM):c.8419G>A (p.Glu2807Lys)	472	ATM	Uncertain significance	1555137929	RCV000565674\|RCV000702751;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216470	108216470	11:g.108216470G>A	ClinGen:CA382517709	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8419G>T (p.Glu2807Ter)	472	ATM	Pathogenic	1555137929	RCV000657598\|RCV000813123\|RCV003303087;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216470	108216470	11:g.108216470G>T	-	CN517202 not provided;
NM_000051.4(ATM):c.8421G>T (p.Glu2807Asp)	472	ATM	Uncertain significance	-1	RCV002903488;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216472	108216472	NC_000011.9:g.108216472G>T	-
NM_000051.4(ATM):c.8422G>A (p.Val2808Met)	472	ATM	Uncertain significance	876660616	RCV000222841\|RCV000558286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216473	108216473	11:g.108216473G>A	ClinGen:CA10579298	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8423T>C (p.Val2808Ala)	472	ATM	Uncertain significance	1359195708	RCV001068201\|RCV001186571\|RCV003462608;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216474	108216474	11:g.108216474T>C	-
NM_000051.4(ATM):c.8424G>T (p.Val2808=)	472	ATM	Likely benign	786203870	RCV000167364\|RCV000937486;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216475	108216475		ClinGen:CA198107	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8432dup (p.Ser2812fs)	472	ATM	Pathogenic	587782558	RCV000166814\|RCV001051125\|RCV001689710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108216476	108216477	11:g.108216476_108216477insA	ClinGen:CA196792	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8425C>G (p.Gln2809Glu)	472	ATM	Uncertain significance	1555137973	RCV000534447;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216476	108216476	11:g.108216476C>G	ClinGen:CA382517733	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8425C>T (p.Gln2809Ter)	472	ATM	Pathogenic/Likely pathogenic	1555137973	RCV000755036\|RCV000796609\|RCV002467451;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216476	108216476	NC_000011.9:g.108216476C>T	-
NM_000051.4(ATM):c.8432del (p.Lys2811fs)	472	ATM	Pathogenic	587782558	RCV000131776\|RCV000229908\|RCV000235769\|RCV003162589\|RCV003155924;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:00	11	108216477	108216477	11:g.108216477_108216477del	ClinGen:CA168737	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8430_8432del (p.Lys2811del)	472	ATM	Uncertain significance	587782558	RCV000569309\|RCV001050266;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216477	108216479	11:g.108216477_108216479del	ClinGen:CA645598133	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8431_8432del (p.Lys2811fs)	472	ATM	Pathogenic	587782558	RCV001017769\|RCV001873302;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216477	108216478	11:g.108216477_108216478del	-
NM_000051.4(ATM):c.8427A>G (p.Gln2809=)	472	ATM	Likely benign	538173062	RCV000204532\|RCV000223503\|RCV001705170;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108216478	108216478		ClinGen:CA348756	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8428A>C (p.Lys2810Gln)	472	ATM	Uncertain significance	730881325	RCV000159661\|RCV000168380\|RCV000569229\|RCV000764950\|RCV001354380\|RCV001526890\|RCV003467223;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108216479	108216479	NC_000011.9:g.108216479A>C	ClinGen:CA298080	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8428A>G (p.Lys2810Glu)	472	ATM	Uncertain significance	730881325	RCV000459044;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216479	108216479	NC_000011.9:g.108216479A>G	ClinGen:CA16613453	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8429A>C (p.Lys2810Thr)	472	ATM	Uncertain significance	1555137999	RCV000627876\|RCV002258973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216480	108216480	11:g.108216480A>C	ClinGen:CA382517759	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8431_8432delinsT (p.Lys2811fs)	472	ATM	Pathogenic	-1	RCV003021443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216482	108216483	NC_000011.9:g.108216482_108216483delinsT	-
NM_000051.4(ATM):c.8434T>C (p.Ser2812Pro)	472	ATM	Uncertain significance	786202372	RCV000165144\|RCV000685963\|RCV003468735;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216485	108216485	11:g.108216485T>C	ClinGen:CA192613	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8435_8436del (p.Ser2812fs)	472	ATM	Pathogenic	767533596	RCV000477637\|RCV003298483\|RCV003470434;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216485	108216486	NC_000011.9:g.108216486_108216487del	ClinGen:CA6266370	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8434T>G (p.Ser2812Ala)	472	ATM	Uncertain significance	786202372	RCV000628111;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216485	108216485	NC_000011.9:g.108216485T>G	ClinGen:CA382517783	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8435_8437del (p.Ser2812del)	472	ATM	Uncertain significance	1591264086	RCV000797684;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216485	108216487	11:g.108216485_108216487del	-
NM_000051.4(ATM):c.8434T>A (p.Ser2812Thr)	472	ATM	Uncertain significance	-1	RCV002305303;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216485	108216485	108216485	-
NM_000051.4(ATM):c.8439del (p.Phe2813fs)	472	ATM	Pathogenic	991405942	RCV001035602;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216487	108216487	11:g.108216487_108216487del	-
NM_000051.4(ATM):c.8438_8439del (p.Ser2812_Phe2813insTer)	472	ATM	Pathogenic	991405942	RCV001389375\|RCV002449078;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216487	108216488	108216486	-
NM_000051.4(ATM):c.8437T>C (p.Phe2813Leu)	472	ATM	Uncertain significance	1280239284	RCV000572960\|RCV000627970;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216488	108216488	NC_000011.9:g.108216488T>C	ClinGen:CA382517798	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8438_8449del (p.Phe2813_Lys2816del)	472	ATM	Uncertain significance	2137025439	RCV002006481;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216488	108216499	108216487	-
NM_000051.4(ATM):c.8438T>C (p.Phe2813Ser)	472	ATM	Uncertain significance	1555138027	RCV000584382\|RCV000627917\|RCV001564677\|RCV002248796;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108216489	108216489	11:g.108216489T>C	ClinGen:CA382517806	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8440del (p.Glu2814fs)	472	ATM	Pathogenic	752526400	RCV000695448\|RCV003460941;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216491	108216491	11:g.108216491_108216491del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8440G>A (p.Glu2814Lys)	472	ATM	Uncertain significance	2137025722	RCV002025751;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216491	108216491	108216491	-
NM_000051.4(ATM):c.8443G>A (p.Glu2815Lys)	472	ATM	Uncertain significance	1214616015	RCV000800937;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216494	108216494	11:g.108216494G>A	-
NM_000051.4(ATM):c.8445G>A (p.Glu2815=)	472	ATM	Likely benign	2137026158	RCV002184961;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216496	108216496		-
NM_000051.4(ATM):c.8446A>C (p.Lys2816Gln)	472	ATM	Uncertain significance	1555138041	RCV000569004\|RCV001865740;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216497	108216497	11:g.108216497A>C	ClinGen:CA382517857	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8450A>G (p.Tyr2817Cys)	472	ATM	Uncertain significance	747764678	RCV000204381\|RCV000566655\|RCV001356908\|RCV002465563\|RCV003462377;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216501	108216501	11:g.108216501A>G	ClinGen:CA348619	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8451T>A (p.Tyr2817Ter)	472	ATM	Pathogenic	2137026687	RCV001389337;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216502	108216502	108216502	-
NM_000051.4(ATM):c.8451T>G (p.Tyr2817Ter)	472	ATM	Pathogenic/Likely pathogenic	2137026687	RCV002002539\|RCV003471145;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216502	108216502	108216502	-
NM_000051.4(ATM):c.8454A>G (p.Glu2818=)	472	ATM	Likely benign	2137026950	RCV002147353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216505	108216505		-
NM_000051.4(ATM):c.8456T>G (p.Val2819Gly)	472	ATM	Uncertain significance	1565563392	RCV000705145;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216507	108216507	11:g.108216507T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8457C>G (p.Val2819=)	472	ATM	Likely benign	2137027225	RCV001465040;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216508	108216508		-
NM_000051.4(ATM):c.8457C>A (p.Val2819=)	472	ATM	Likely benign	2137027225	RCV002196977\|RCV002443114;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216508	108216508		-
NM_000051.4(ATM):c.8460C>A (p.Phe2820Leu)	472	ATM	Uncertain significance	2137027437	RCV001877733;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216511	108216511	108216511	-
NM_000051.4(ATM):c.8461A>G (p.Met2821Val)	472	ATM	Uncertain significance	876660081	RCV000215494\|RCV000464237\|RCV003469062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216512	108216512	11:g.108216512A>G	ClinGen:CA10579299	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8464_8467del (p.Asp2822fs)	472	ATM	Pathogenic	2137027657	RCV001775270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216512	108216515	108216511	-
NM_000051.4(ATM):c.8462T>G (p.Met2821Arg)	472	ATM	Uncertain significance	1555138065	RCV000568334\|RCV001069706\|RCV003459339;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216513	108216513	11:g.108216513T>G	ClinGen:CA382517950	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8462T>C (p.Met2821Thr)	472	ATM	Uncertain significance	1555138065	RCV001017846\|RCV001860879;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216513	108216513	11:g.108216513T>C	-
NM_000051.4(ATM):c.8464G>A (p.Asp2822Asn)	472	ATM	Uncertain significance	2088274235	RCV001324525;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216515	108216515	108216515	-
NM_000051.4(ATM):c.8466T>C (p.Asp2822=)	472	ATM	Likely benign	1057523224	RCV000419229\|RCV001492214;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216517	108216517		ClinGen:CA16606135	CN169374 not specified;
NM_000051.4(ATM):c.8466T>A (p.Asp2822Glu)	472	ATM	Uncertain significance	1057523224	RCV001985223;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216517	108216517	108216517	-
NM_000051.4(ATM):c.8469T>C (p.Val2823=)	472	ATM	Likely benign	1555138081	RCV000628317\|RCV000771678;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216520	108216520		ClinGen:CA476673080	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8469T>A (p.Val2823=)	472	ATM	Likely benign	-1	RCV003099947\|RCV002447574;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216520	108216520		-
NM_000051.4(ATM):c.8471G>A (p.Cys2824Tyr)	472	ATM	Uncertain significance	876660927	RCV000213976\|RCV000823433\|RCV001193635;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108216522	108216522	11:g.108216522G>A	ClinGen:CA10579300,UniProtKB:Q13315#VAR_010878	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8471G>C (p.Cys2824Ser)	472	ATM	Uncertain significance	876660927	RCV000698140;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216522	108216522	11:g.108216522G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8472C>T (p.Cys2824=)	472	ATM	Likely benign	1555138090	RCV000566083\|RCV002528102;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216523	108216523		ClinGen:CA476673082	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8473C>T (p.Gln2825Ter)	472	ATM	Pathogenic	587781363	RCV000129156\|RCV000523615\|RCV000549950\|RCV003467103;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216524	108216524	11:g.108216524C>T	ClinGen:CA163889	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8476_8477dup (p.Asn2826fs)	472	ATM	Pathogenic	786203272	RCV000166505\|RCV001035860;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216524	108216525	NC_000011.9:g.108216527_108216528dup	ClinGen:CA196050	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8473C>G (p.Gln2825Glu)	472	ATM	Uncertain significance	587781363	RCV001900683;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216524	108216524	108216524	-
NM_000051.4(ATM):c.8474A>G (p.Gln2825Arg)	472	ATM	Uncertain significance	1555138094	RCV000584705\|RCV001070627;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216525	108216525	NC_000011.9:g.108216525A>G	ClinGen:CA382518009	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8475A>G (p.Gln2825=)	472	ATM	Likely benign	769656947	RCV000223573\|RCV001242423\|RCV003456381;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108216526	108216526		ClinGen:CA6266372
NM_000051.4(ATM):c.8477A>G (p.Asn2826Ser)	472	ATM	Uncertain significance	1591264493	RCV001017861\|RCV001860881;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216528	108216528	11:g.108216528A>G	-
NM_000051.4(ATM):c.8478T>C (p.Asn2826=)	472	ATM	Likely benign	1315026465	RCV001017875\|RCV002068956;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216529	108216529		-
NM_000051.4(ATM):c.8481del (p.Gln2828fs)	472	ATM	Pathogenic	2088278756	RCV001220444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216529	108216529	11:g.108216529_108216529del	-
NM_000051.4(ATM):c.8479T>A (p.Phe2827Ile)	472	ATM	Conflicting interpretations of pathogenicity	370152402	RCV000165657\|RCV000485679\|RCV000628018;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216530	108216530	11:g.108216530T>A	ClinGen:CA193918	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8480T>G (p.Phe2827Cys)	472	ATM	Conflicting interpretations of pathogenicity	121434216	RCV000003158\|RCV000581067\|RCV000628126\|RCV003230344\|RCV003231072\|RCV003460407;	N	MONDO:MONDO:0018266,MedGen:C1876175, Orphanet:370109\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:11	11	108216531	108216531	11:g.108216531T>G	ClinGen:CA115928,UniProtKB:Q13315#VAR_010879,OMIM:607585.0006	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8481T>G (p.Phe2827Leu)	472	ATM	Uncertain significance	886047614	RCV000294087\|RCV000573046;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216532	108216532	NC_000011.9:g.108216532T>G	ClinGen:CA10629786	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8482C>G (p.Gln2828Glu)	472	ATM	Uncertain significance	1555138125	RCV000567443\|RCV000806553;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216533	108216533	11:g.108216533C>G	ClinGen:CA382518054	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8482C>T (p.Gln2828Ter)	472	ATM	Pathogenic	1555138125	RCV001218452\|RCV002447098;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216533	108216533	11:g.108216533C>T	-
NM_000051.4(ATM):c.8484del (p.Gln2828fs)	472	ATM	Pathogenic	1565563579	RCV000709192;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216534	108216534	11:g.108216534_108216534del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8485C>T (p.Pro2829Ser)	472	ATM	Likely pathogenic	2137030040	RCV002006070;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216536	108216536	108216536	-
NM_000051.4(ATM):c.8486C>T (p.Pro2829Leu)	472	ATM	Conflicting interpretations of pathogenicity	938431501	RCV000480686\|RCV000566971\|RCV000792087\|RCV002307513;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108216537	108216537	11:g.108216537C>T	ClinGen:CA16619259	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8490T>C (p.Val2830=)	472	ATM	Likely benign	773149592	RCV002120087;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216541	108216541		-
NM_000051.4(ATM):c.8491T>G (p.Phe2831Val)	472	ATM	Uncertain significance	-1	RCV002663462;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216542	108216542	NC_000011.9:g.108216542T>G	-
NM_000051.4(ATM):c.8492T>C (p.Phe2831Ser)	472	ATM	Uncertain significance	1591264665	RCV000795031;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216543	108216543	11:g.108216543T>C	-
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys)	472	ATM	Pathogenic/Likely pathogenic	587779872	RCV000115265\|RCV000169354\|RCV000212084\|RCV001197256\|RCV001814061\|RCV003162536;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|Human Phenotype Ontology:HP:0011442,MedGen:C402	11	108216545	108216545	NC_000011.9:g.108216545C>T	ClinGen:CA287019,UniProtKB:Q13315#VAR_010881	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8494C>G (p.Arg2832Gly)	472	ATM	Uncertain significance	587779872	RCV001324895;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216545	108216545	108216545	-
NM_000051.4(ATM):c.8495G>A (p.Arg2832His)	472	ATM	Conflicting interpretations of pathogenicity	529296539	RCV000120163\|RCV000159755\|RCV000462707\|RCV000656764\|RCV000764951\|RCV001798380\|RCV003153383\|RCV003153384;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C034615	11	108216546	108216546	11:g.108216546G>A	ClinGen:CA157186	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8495G>C (p.Arg2832Pro)	472	ATM	Likely pathogenic	529296539	RCV000492899\|RCV002527069;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216546	108216546	NC_000011.9:g.108216546G>C	ClinGen:CA382518107	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8495G>T (p.Arg2832Leu)	472	ATM	Conflicting interpretations of pathogenicity	529296539	RCV000493266\|RCV000534120\|RCV002413361;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216546	108216546	11:g.108216546G>T	ClinGen:CA382518109	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8497del (p.Tyr2833fs)	472	ATM	Pathogenic	-1	RCV002761019;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216547	108216547	NC_000011.9:g.108216548del	-
NM_000051.4(ATM):c.8497T>C (p.Tyr2833His)	472	ATM	Uncertain significance	774171813	RCV000483229\|RCV000709193\|RCV001017910;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216548	108216548	11:g.108216548T>C	ClinGen:CA6266374	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8499C>G (p.Tyr2833Ter)	472	ATM	Pathogenic	2137031313	RCV001978884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216550	108216550	108216550	-
NM_000051.4(ATM):c.8499C>T (p.Tyr2833=)	472	ATM	Likely benign	-1	RCV002447677\|RCV003099950;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216550	108216550		-
NM_000051.4(ATM):c.8500T>A (p.Phe2834Ile)	472	ATM	Uncertain significance	1591264768	RCV001017927\|RCV001363266;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216551	108216551	11:g.108216551T>A	-
NM_000051.4(ATM):c.8502C>T (p.Phe2834=)	472	ATM	Likely benign	1555138167	RCV000562909\|RCV000873209;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216553	108216553		ClinGen:CA476673097	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8504dup (p.Cys2835fs)	472	ATM	Pathogenic	2137031805	RCV001951427;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216554	108216555	108216554	-
NM_000051.4(ATM):c.8504G>A (p.Cys2835Tyr)	472	ATM	Uncertain significance	759655842	RCV000561919\|RCV002526903;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216555	108216555	NC_000011.9:g.108216555G>A	ClinGen:CA6266375	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8505C>A (p.Cys2835Ter)	472	ATM	Pathogenic/Likely pathogenic	587781597	RCV000129661\|RCV000557950\|RCV003467116;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216556	108216556	11:g.108216556C>A	ClinGen:CA164890	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8505C>T (p.Cys2835=)	472	ATM	Likely benign	-1	RCV002872634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216556	108216556		-
NM_000051.4(ATM):c.8506A>G (p.Met2836Val)	472	ATM	Uncertain significance	879253968	RCV000235391\|RCV000814842\|RCV001017929;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216557	108216557	11:g.108216557A>G	ClinGen:CA10584377	CN169374 not specified;
NM_000051.4(ATM):c.8507T>C (p.Met2836Thr)	472	ATM	Uncertain significance	1591264886	RCV001017931\|RCV001860883;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216558	108216558	11:g.108216558T>C	-
NM_000051.4(ATM):c.8512A>C (p.Lys2838Gln)	472	ATM	Uncertain significance	2088287574	RCV001036637;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216563	108216563	11:g.108216563A>C	-
NM_000051.4(ATM):c.8512A>G (p.Lys2838Glu)	472	ATM	Uncertain significance	-1	RCV002304387;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216563	108216563	108216563	-
NM_000051.4(ATM):c.8513A>G (p.Lys2838Arg)	472	ATM	Uncertain significance	2088287946	RCV001067784;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216564	108216564	11:g.108216564A>G	-
NM_000051.4(ATM):c.8514A>G (p.Lys2838=)	472	ATM	Likely benign	1591264927	RCV001470211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216565	108216565		-
NM_000051.4(ATM):c.8516dup (p.Asp2841fs)	472	ATM	Pathogenic	2137032635	RCV001940765;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216565	108216566	108216565	-
NM_000051.4(ATM):c.8515T>A (p.Phe2839Ile)	472	ATM	Uncertain significance	876658958	RCV000213259\|RCV000804338;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216566	108216566	11:g.108216566T>A	ClinGen:CA10579302	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8517C>A (p.Phe2839Leu)	472	ATM	Uncertain significance	767845728	RCV000220045\|RCV001372693;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216568	108216568	11:g.108216568C>A	ClinGen:CA6266376	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8518T>C (p.Leu2840=)	472	ATM	Conflicting interpretations of pathogenicity	794727769	RCV000179200\|RCV000563134\|RCV001426526;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216569	108216569		ClinGen:CA246478	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8519T>C (p.Leu2840Ser)	472	ATM	Uncertain significance	947497737	RCV000695570;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216570	108216570	NC_000011.9:g.108216570T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8520G>C (p.Leu2840Phe)	472	ATM	Uncertain significance	752652869	RCV000204493\|RCV000219341\|RCV001770156\|RCV003237343;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216571	108216571	11:g.108216571G>C	ClinGen:CA348719	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8521G>T (p.Asp2841Tyr)	472	ATM	Uncertain significance	786203013	RCV000166132\|RCV001248123;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216572	108216572	11:g.108216572G>T	ClinGen:CA195080	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8521G>A (p.Asp2841Asn)	472	ATM	Uncertain significance	786203013	RCV001359929;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216572	108216572	108216572	-
NM_000051.4(ATM):c.8523T>G (p.Asp2841Glu)	472	ATM	Uncertain significance	-1	RCV002912822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216574	108216574	NC_000011.9:g.108216574T>G	-
NM_000051.4(ATM):c.8524C>T (p.Pro2842Ser)	472	ATM	Uncertain significance	876659505	RCV000218221\|RCV000227307\|RCV003469049;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216575	108216575	11:g.108216575C>T	ClinGen:CA10579303	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8525C>T (p.Pro2842Leu)	472	ATM	Uncertain significance	879254065	RCV001982561\|RCV002442926;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216576	108216576	108216576	-
NM_000051.4(ATM):c.8526A>G (p.Pro2842=)	472	ATM	Likely benign	900737596	RCV000434348\|RCV001017959\|RCV002524827;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216577	108216577		ClinGen:CA16606136	CN169374 not specified;
NM_000051.4(ATM):c.8526A>T (p.Pro2842=)	472	ATM	Likely benign	900737596	RCV002084624;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216577	108216577		-
NM_000051.4(ATM):c.8527G>T (p.Ala2843Ser)	472	ATM	Uncertain significance	2137033579	RCV001874053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216578	108216578	108216578	-
NM_000051.4(ATM):c.8528C>T (p.Ala2843Val)	472	ATM	Uncertain significance	1060501637	RCV000466265;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216579	108216579	NC_000011.9:g.108216579C>T	ClinGen:CA16613512	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8530_8532dup (p.Ile2844_Trp2845insIle)	472	ATM	Uncertain significance	1555138275	RCV000485444\|RCV000694450\|RCV002446922;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216579	108216580	NC_000011.9:g.108216581_108216583dup	ClinGen:CA16619260	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8530A>G (p.Ile2844Val)	472	ATM	Conflicting interpretations of pathogenicity	756230327	RCV000167366\|RCV000473223\|RCV000779779\|RCV001562843;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108216581	108216581	11:g.108216581A>G	ClinGen:CA198113	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8531T>G (p.Ile2844Ser)	472	ATM	Uncertain significance	1591265172	RCV001017968\|RCV001860885;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216582	108216582	11:g.108216582T>G	-
NM_000051.4(ATM):c.8531_8534del (p.Ile2844fs)	472	ATM	Pathogenic	-1	RCV002447809\|RCV003099963;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216582	108216585	108216581	-
NM_000051.4(ATM):c.8531T>C (p.Ile2844Thr)	472	ATM	Uncertain significance	-1	RCV002414439\|RCV003099964;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216582	108216582	108216582	-
NM_000051.4(ATM):c.8532T>C (p.Ile2844=)	472	ATM	Conflicting interpretations of pathogenicity	730881278	RCV000159598\|RCV000212085\|RCV000231198\|RCV001580007;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108216583	108216583		ClinGen:CA297972	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8533T>C (p.Trp2845Arg)	472	ATM	Uncertain significance	2137034127	RCV002039478;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216584	108216584	108216584	-
NM_000051.4(ATM):c.8534G>T (p.Trp2845Leu)	472	ATM	Uncertain significance	2137034202	RCV001900923\|RCV002407018;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216585	108216585	108216585	-
NM_000051.4(ATM):c.8535G>A (p.Trp2845Ter)	472	ATM	Pathogenic/Likely pathogenic	1555138291	RCV000671076\|RCV000722036\|RCV000991563\|RCV003465507;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0018177,MeSH:D005909,MedGen:C0017636, Orphanet:360\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216586	108216586	11:g.108216586G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8536T>C (p.Phe2846Leu)	472	ATM	Uncertain significance	1591265229	RCV000991564\|RCV002295315;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216587	108216587	11:g.108216587T>C	-
NM_000051.4(ATM):c.8536T>A (p.Phe2846Ile)	472	ATM	Uncertain significance	1591265229	RCV001215367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216587	108216587	11:g.108216587T>A	-
NM_000051.4(ATM):c.8541G>A (p.Glu2847=)	472	ATM	Likely benign	-1	RCV002766913;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216592	108216592		-
NM_000051.4(ATM):c.8542A>G (p.Lys2848Glu)	472	ATM	Uncertain significance	1565563932	RCV000706482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216593	108216593	11:g.108216593A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8544G>A (p.Lys2848=)	472	ATM	Likely benign	-1	RCV002414452\|RCV003099966;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216595	108216595		-
NM_000051.4(ATM):c.8545C>T (p.Arg2849Ter)	472	ATM	Pathogenic/Likely pathogenic	587778080	RCV000120162\|RCV000407552\|RCV000478987\|RCV000566641\|RCV001258124\|RCV001352893\|RCV003460846;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MedGen:C3469522\|Human Phenotype On	11	108216596	108216596	11:g.108216596C>T	ClinGen:CA157183	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8545C>A (p.Arg2849=)	472	ATM	Likely benign	587778080	RCV000569685\|RCV001429051;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216596	108216596		ClinGen:CA476673128	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8545C>G (p.Arg2849Gly)	472	ATM	Conflicting interpretations of pathogenicity	587778080	RCV000563784\|RCV001264461\|RCV001378817;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216596	108216596	NC_000011.9:g.108216596C>G	ClinGen:CA382518434	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8546G>A (p.Arg2849Gln)	472	ATM	Conflicting interpretations of pathogenicity	587782202	RCV000130863\|RCV000482134\|RCV000627888;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216597	108216597	11:g.108216597G>A	ClinGen:CA167269	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8546G>C (p.Arg2849Pro)	472	ATM	Likely pathogenic	587782202	RCV000582030\|RCV000805253\|RCV002221560\|RCV002280130;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108216597	108216597	11:g.108216597G>C	ClinGen:CA382518439	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8548T>C (p.Leu2850=)	472	ATM	Likely benign	1555138320	RCV000628297;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216599	108216599		ClinGen:CA476673134	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8549T>A (p.Leu2850Ter)	472	ATM	Pathogenic/Likely pathogenic	876658716	RCV000215215\|RCV000526852\|RCV000519674\|RCV003469011;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216600	108216600	11:g.108216600T>A	ClinGen:CA10579304	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8549T>C (p.Leu2850Ser)	472	ATM	Uncertain significance	876658716	RCV000479563\|RCV000580976\|RCV000819032;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216600	108216600	11:g.108216600T>C	ClinGen:CA16619261	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8550G>A (p.Leu2850=)	472	ATM	Likely benign	1591265370	RCV000979814;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216601	108216601		-
NM_000051.4(ATM):c.8550G>T (p.Leu2850Phe)	472	ATM	Uncertain significance	1591265370	RCV001035629;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216601	108216601	11:g.108216601G>T	-
NM_000051.4(ATM):c.8551_8554dup (p.Tyr2852fs)	472	ATM	Pathogenic	2088299549	RCV001050719\|RCV003455216;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216601	108216602	11:g.108216601_108216602insGCTT	-
NM_000051.4(ATM):c.8553T>C (p.Ala2851=)	472	ATM	Likely benign	2137035844	RCV002078430;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216604	108216604		-
NM_000051.4(ATM):c.8554T>C (p.Tyr2852His)	472	ATM	Uncertain significance	1064794108	RCV000484099\|RCV002525815;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216605	108216605	11:g.108216605T>C	ClinGen:CA16619262	CN169374 not specified;
NM_000051.4(ATM):c.8556T>C (p.Tyr2852=)	472	ATM	Conflicting interpretations of pathogenicity	779394254	RCV000163648\|RCV000539465\|RCV000612311\|RCV002478499;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108216607	108216607		ClinGen:CA188843	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8556T>G (p.Tyr2852Ter)	472	ATM	Pathogenic/Likely pathogenic	779394254	RCV001381412\|RCV002447508\|RCV003469659;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216607	108216607	108216607	-
NM_000051.4(ATM):c.8556T>A (p.Tyr2852Ter)	472	ATM	Pathogenic	779394254	RCV001887802;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216607	108216607	108216607	-
NM_000051.4(ATM):c.8558C>G (p.Thr2853Arg)	472	ATM	Uncertain significance	141534716	RCV000115266\|RCV000564804\|RCV000547519;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216609	108216609	NC_000011.9:g.108216609C>G	ClinGen:CA287021	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8558C>T (p.Thr2853Met)	472	ATM	Uncertain significance	141534716	RCV000131262\|RCV000203831\|RCV000589725\|RCV001356460\|RCV002265616\|RCV002483265\|RCV003474776;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108216609	108216609	11:g.108216609C>T	ClinGen:CA294334	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8558_8559insAAA (p.Thr2853_Arg2854insLys)	472	ATM	Uncertain significance	2088301952	RCV001208264;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216609	108216610	11:g.108216609_108216610insAAA	-
NM_000051.4(ATM):c.8558C>A (p.Thr2853Lys)	472	ATM	Uncertain significance	141534716	RCV001988568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216609	108216609	108216609	-
NM_000051.4(ATM):c.8559G>A (p.Thr2853=)	472	ATM	Benign/Likely benign	368058202	RCV000460012\|RCV000564896\|RCV001613305;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108216610	108216610		ClinGen:CA16613168	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8559G>C (p.Thr2853=)	472	ATM	Likely benign	368058202	RCV000922123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216610	108216610		-
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys)	472	ATM	Conflicting interpretations of pathogenicity	201958469	RCV000131002\|RCV000199741\|RCV000585658\|RCV000656765\|RCV000779783\|RCV001354297\|RCV001798447\|RCV001357714;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0002032,MedGen:C069	11	108216611	108216611	11:g.108216611C>T	ClinGen:CA246481	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8561G>A (p.Arg2854His)	472	ATM	Uncertain significance	1060501605	RCV000472855\|RCV000487333\|RCV000579515;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216612	108216612	NC_000011.9:g.108216612G>A	ClinGen:CA16613514	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8561G>T (p.Arg2854Leu)	472	ATM	Uncertain significance	1060501605	RCV000563565\|RCV000627844\|RCV003314618;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108216612	108216612	11:g.108216612G>T	ClinGen:CA382518588	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8561G>C (p.Arg2854Pro)	472	ATM	Uncertain significance	1060501605	RCV001339447;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216612	108216612	108216612	-
NM_000051.4(ATM):c.8562C>T (p.Arg2854=)	472	ATM	Likely benign	878853550	RCV000233991\|RCV000440301\|RCV002258834;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216613	108216613		ClinGen:CA10582862	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8564G>A (p.Ser2855Asn)	472	ATM	Uncertain significance	2088303841	RCV001043291;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216615	108216615	11:g.108216615G>A	-
NM_000051.4(ATM):c.8564G>T (p.Ser2855Ile)	472	ATM	Likely pathogenic	2088303841	RCV001961496;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216615	108216615	108216615	-
NM_000051.4(ATM):c.8565_8566delinsAA (p.Ser2855_Val2856delinsArgIle)	472	ATM	Pathogenic/Likely pathogenic	587781353	RCV000129137\|RCV000235111\|RCV000456994\|RCV003407539\|RCV003330499\|RCV003467102;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216616	108216617	NC_000011.9:g.108216616_108216617delinsAA	ClinGen:CA293967	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8565T>G (p.Ser2855Arg)	472	ATM	Pathogenic/Likely pathogenic	780905851	RCV000220309\|RCV000695412\|RCV002264921\|RCV003469029;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216616	108216616	11:g.108216616T>G	ClinGen:CA6266379,UniProtKB:Q13315#VAR_010883	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8565T>A (p.Ser2855Arg)	472	ATM	Likely pathogenic	780905851	RCV001235608;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216616	108216616	11:g.108216616T>A	-
NM_000051.4(ATM):c.8565T>C (p.Ser2855=)	472	ATM	Likely benign	780905851	RCV001468961;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216616	108216616		-
NM_000051.4(ATM):c.8566G>A (p.Val2856Ile)	472	ATM	Uncertain significance	777648248	RCV001018007\|RCV001355055\|RCV001312672;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216617	108216617	11:g.108216617G>A	-
NM_000051.4(ATM):c.8567T>A (p.Val2856Glu)	472	ATM	Uncertain significance	1060501649	RCV000456168;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216618	108216618	NC_000011.9:g.108216618T>A	ClinGen:CA16613218	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8568A>G (p.Val2856=)	472	ATM	Likely benign	2137037514	RCV002146436;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216619	108216619		-
NM_000051.4(ATM):c.8570C>G (p.Ala2857Gly)	472	ATM	Uncertain significance	2137037690	RCV001991838\|RCV002443023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216621	108216621	108216621	-
NM_000051.4(ATM):c.8571T>C (p.Ala2857=)	472	ATM	Likely benign	786203050	RCV000166185\|RCV000528790;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216622	108216622		ClinGen:CA195199	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8571T>G (p.Ala2857=)	472	ATM	Likely benign	786203050	RCV000977593;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216622	108216622		-
NM_000051.4(ATM):c.8572A>G (p.Thr2858Ala)	472	ATM	Uncertain significance	749193688	RCV000541227\|RCV000566369\|RCV002469182;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108216623	108216623	NC_000011.9:g.108216623A>G	ClinGen:CA6266382	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8575TCT[1] (p.Ser2860del)	472	ATM	Pathogenic	786203976	RCV000003154\|RCV000167512\|RCV000480186\|RCV002221464;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216624	108216626	NC_000011.9:g.108216626TCT[1]	ClinGen:CA198490,OMIM:607585.0001	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8573_8574insGAA (p.Thr2858_Ser2859insAsn)	472	ATM	Uncertain significance	2088307936	RCV001338385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216624	108216625	108216624	-
NM_000051.4(ATM):c.8574T>C (p.Thr2858=)	472	ATM	Benign/Likely benign	786203415	RCV000166708\|RCV000197928\|RCV000779775\|RCV001610475;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108216625	108216625		ClinGen:CA196535	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8575T>A (p.Ser2859Thr)	472	ATM	Uncertain significance	2088308600	RCV001225045;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216626	108216626	11:g.108216626T>A	-
NM_000051.4(ATM):c.8576C>G (p.Ser2859Cys)	472	ATM	Uncertain significance	786203542	RCV000166899\|RCV000553709;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216627	108216627	11:g.108216627C>G	ClinGen:CA196980	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8576C>T (p.Ser2859Phe)	472	ATM	Uncertain significance	786203542	RCV000570469\|RCV000709194;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216627	108216627	11:g.108216627C>T	ClinGen:CA382518749	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8578_8584+17del	472	ATM	Likely pathogenic	-1	RCV002893989;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216628	108216651	NC_000011.9:g.108216629_108216652del	-
NM_000051.4(ATM):c.8579C>G (p.Ser2860Cys)	472	ATM	Uncertain significance	1158350157	RCV001018030\|RCV001305936;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216630	108216630	11:g.108216630C>G	-
NM_000051.4(ATM):c.8580T>C (p.Ser2860=)	472	ATM	Likely benign	1591265841	RCV001410907;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216631	108216631		-
NM_000051.4(ATM):c.8581A>G (p.Ile2861Val)	472	ATM	Uncertain significance	1555138472	RCV000668175\|RCV001018038\|RCV003465482;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216632	108216632	11:g.108216632A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8582T>C (p.Ile2861Thr)	472	ATM	Uncertain significance	2137038745	RCV001542251\|RCV001568365\|RCV002568259;	N	Human Phenotype Ontology:HP:0006625,MedGen:C2986662\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216633	108216633	108216633	-
NM_000051.4(ATM):c.8583T>G (p.Ile2861Met)	472	ATM	Uncertain significance	2137038817	RCV002033102;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216634	108216634	108216634	-
NM_000051.4(ATM):c.8584+1G>A	472	ATM	Pathogenic/Likely pathogenic	876658182	RCV000213099\|RCV000628104;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216636	108216636	11:g.108216636G>A	ClinGen:CA10579306	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8584+2T>C	472	ATM	Pathogenic/Likely pathogenic	730881326	RCV000411372\|RCV000567828\|RCV001798543\|RCV003462070;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216637	108216637	NC_000011.9:g.108216637T>C	ClinGen:CA298083	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8584+2T>A	472	ATM	Pathogenic	-1	RCV002851794;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216637	108216637	NC_000011.9:g.108216637T>A	-
NM_000051.4(ATM):c.8584+3A>G	472	ATM	Uncertain significance	-1	RCV002447907\|RCV003099979\|RCV003329446;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108216638	108216638	108216638	-
NM_000051.4(ATM):c.8584+4A>G	472	ATM	Uncertain significance	1555138484	RCV000575273\|RCV001248226\|RCV003465230;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108216639	108216639	NC_000011.9:g.108216639A>G	ClinGen:CA658656261	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8584+9_8584+11del	472	ATM	Likely benign	1064794534	RCV000481048\|RCV000934351\|RCV001178852;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216640	108216642	NC_000011.9:g.108216641CTT[1]	ClinGen:CA16619263	CN169374 not specified;
NM_000051.4(ATM):c.8584+6C>G	472	ATM	Conflicting interpretations of pathogenicity	863224300	RCV000200137\|RCV000771942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216641	108216641	11:g.108216641C>G	ClinGen:CA339118	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8584+7T>C	472	ATM	Likely benign	1374271708	RCV000529706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216642	108216642	11:g.108216642T>C	ClinGen:CA658656262	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8584+7T>G	472	ATM	Likely benign	1374271708	RCV000542737;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216642	108216642	11:g.108216642T>G	ClinGen:CA602132886	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8584+9del	472	ATM	Likely benign	1565564405	RCV000772964\|RCV001475587;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216644	108216644	NC_000011.9:g.108216644del	-
NM_000051.4(ATM):c.8584+10T>C	472	ATM	Benign/Likely benign	373321041	RCV000232687\|RCV000425140\|RCV000580047\|RCV001288458;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108216645	108216645	NC_000011.9:g.108216645T>C	ClinGen:CA6266385	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8584+12del	472	ATM	Likely benign	2137040055	RCV002156355;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216647	108216647	108216646	-
NM_000051.4(ATM):c.8584+12G>C	472	ATM	Likely benign	2137039977	RCV002182780;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216647	108216647	108216647	-
NM_000051.4(ATM):c.8584+12G>A	472	ATM	Likely benign	-1	RCV002922719;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216647	108216647	NC_000011.9:g.108216647G>A	-
NM_000051.4(ATM):c.8584+15_8584+20del	472	ATM	Likely benign	2137040215	RCV002201526;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216648	108216653	108216647	-
NM_000051.4(ATM):c.8584+15dup	472	ATM	Likely benign	2137040530	RCV002166469;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216649	108216650	108216649	-
NM_000051.4(ATM):c.8584+14A>G	472	ATM	Likely benign	-1	RCV002823811;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216649	108216649	NC_000011.9:g.108216649A>G	-
NM_000051.4(ATM):c.8584+16A>C	472	ATM	Likely benign	1322889530	RCV000581410\|RCV002061696;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216651	108216651	11:g.108216651A>C	ClinGen:CA658683716	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8584+16A>G	472	ATM	Conflicting interpretations of pathogenicity	1322889530	RCV002083028\|RCV002443149;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108216651	108216651	108216651	-
NM_000051.4(ATM):c.8584+17T>C	472	ATM	Likely benign	-1	RCV002646443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216652	108216652	NC_000011.9:g.108216652T>C	-
NM_000051.4(ATM):c.8584+18A>G	472	ATM	Likely benign	2137040788	RCV002206266;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216653	108216653	108216653	-
NM_000051.4(ATM):c.8584+19T>C	472	ATM	Likely benign	772128061	RCV002208607;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216654	108216654	108216654	-
NM_000051.4(ATM):c.8584+19del	472	ATM	Likely benign	2137040977	RCV002203944;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216654	108216654	108216653	-
NM_000051.4(ATM):c.8584+20_8584+36del	472	ATM	Likely benign	-1	RCV003073537;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108216654	108216670	NC_000011.9:g.108216655_108216671del	-
NM_000051.4(ATM):c.8585-17_8585-14del	472	ATM	Likely benign	764013510	RCV000481895\|RCV000580886\|RCV002056732;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217983	108217986	11:g.108217983_108217986del	ClinGen:CA6266395	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8585-19T>C	472	ATM	Likely benign	2137076742	RCV002120121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217987	108217987	108217987	-
NM_000051.4(ATM):c.8585-16T>A	472	ATM	Likely benign	2137076895	RCV002122273;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217990	108217990	108217990	-
NM_000051.4(ATM):c.8585-14T>G	472	ATM	Likely benign	-1	RCV002638535;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217992	108217992	NC_000011.9:g.108217992T>G	-
NM_000051.4(ATM):c.8585-11T>C	472	ATM	Likely benign	-1	RCV002866083;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217995	108217995	NC_000011.9:g.108217995T>C	-
NC_000011.10:g.(?_108347269)_(108354884_?)del	472	ATM	Pathogenic	-1	RCV000818561;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217996	108225611		-
NC_000011.9:g.(?_108217996)_(108218102_?)del	472	ATM	Likely pathogenic	-1	RCV001379790;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217996	108218102	-1	-
NM_000051.4(ATM):c.8585-9T>C	472	ATM	Likely benign	2137077383	RCV002203942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217997	108217997	108217997	-
NM_000051.4(ATM):c.8585-8T>C	472	ATM	Likely benign	2137077459	RCV001422676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108217998	108217998	108217998	-
NM_000051.4(ATM):c.8585-6C>T	472	ATM	Likely benign	2137077591	RCV002200020;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218000	108218000	108218000	-
NM_000051.4(ATM):c.8585-5T>G	472	ATM	Likely benign	-1	RCV002959221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218001	108218001	NC_000011.9:g.108218001T>G	-
NM_000051.4(ATM):c.8585-4C>G	472	ATM	Likely benign	1555139447	RCV000555160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218002	108218002	11:g.108218002C>G	ClinGen:CA658656264	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8585-4C>A	472	ATM	Likely benign	1555139447	RCV000771652\|RCV000944680;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218002	108218002	NC_000011.9:g.108218002C>A	-
NM_000051.4(ATM):c.8585-4C>T	472	ATM	Conflicting interpretations of pathogenicity	1555139447	RCV002188759\|RCV002443266;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218002	108218002	108218002	-
NM_000051.4(ATM):c.8585-3C>A	472	ATM	Uncertain significance	-1	RCV002979914;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218003	108218003	NC_000011.9:g.108218003C>A	-
NM_000051.4(ATM):c.8585-2A>C	472	ATM	Pathogenic	1060501700	RCV000462876\|RCV000482474\|RCV001018039\|RCV002221539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108218004	108218004	NC_000011.9:g.108218004A>C	ClinGen:CA16613454	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8585-2A>G	472	ATM	Likely pathogenic	1060501700	RCV000668705\|RCV003303096;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218004	108218004	11:g.108218004A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8586del (p.Gly2863fs)	472	ATM	Likely pathogenic	1555139467	RCV000576832;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218006	108218006	11:g.108218006_108218006del	ClinGen:CA658656265	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8588G>T (p.Gly2863Val)	472	ATM	Uncertain significance	786201911	RCV000164436\|RCV001850297;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218009	108218009	11:g.108218009G>T	ClinGen:CA190943	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8589T>C (p.Gly2863=)	472	ATM	Likely benign	1409265866	RCV001443303;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218010	108218010		-
NM_000051.4(ATM):c.8592C>T (p.Tyr2864=)	472	ATM	Benign/Likely benign	56025670	RCV000123716\|RCV000212088\|RCV000587103\|RCV000988737\|RCV001356318\|RCV001798399;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562	11	108218013	108218013		ClinGen:CA289525	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8592C>G (p.Tyr2864Ter)	472	ATM	Pathogenic	56025670	RCV001804474\|RCV001869512;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218013	108218013	108218013	-
NM_000051.4(ATM):c.8592C>A (p.Tyr2864Ter)	472	ATM	Pathogenic	-1	RCV003032489;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218013	108218013	NC_000011.9:g.108218013C>A	-
NM_000051.4(ATM):c.8593A>G (p.Ile2865Val)	472	ATM	Uncertain significance	786202223	RCV000164939\|RCV000588681\|RCV000628009\|RCV003462156;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108218014	108218014	11:g.108218014A>G	ClinGen:CA192135	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8594T>C (p.Ile2865Thr)	472	ATM	Uncertain significance	587779873	RCV000115267\|RCV000771943\|RCV000812988;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218015	108218015	NC_000011.9:g.108218015T>C	ClinGen:CA287024	CN169374 not specified;
NM_000051.4(ATM):c.8594T>G (p.Ile2865Arg)	472	ATM	Uncertain significance	587779873	RCV001218853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218015	108218015	11:g.108218015T>G	-
NM_000051.4(ATM):c.8595A>T (p.Ile2865=)	472	ATM	Likely benign	777245630	RCV000219891\|RCV000435342\|RCV000932599;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218016	108218016		ClinGen:CA6266399	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8596C>G (p.Leu2866Val)	472	ATM	Conflicting interpretations of pathogenicity	368666328	RCV000166084\|RCV000168218\|RCV002272149\|RCV003316050;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108218017	108218017	11:g.108218017C>G	ClinGen:CA194948	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8596C>T (p.Leu2866Phe)	472	ATM	Uncertain significance	368666328	RCV000217814\|RCV000236111\|RCV000465062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218017	108218017	11:g.108218017C>T	ClinGen:CA10579308	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8597T>C (p.Leu2866Pro)	472	ATM	Uncertain significance	1555139517	RCV000531201\|RCV001354106\|RCV002448586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218018	108218018	11:g.108218018T>C	ClinGen:CA382520424	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8598T>C (p.Leu2866=)	472	ATM	Likely benign	-1	RCV002830069;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218019	108218019		-
NM_000051.4(ATM):c.8599G>C (p.Gly2867Arg)	472	ATM	Uncertain significance	2137079086	RCV001937703\|RCV002449567\|RCV003232459;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108218020	108218020	108218020	-
NM_000051.4(ATM):c.8600G>A (p.Gly2867Glu)	472	ATM	Uncertain significance	2088544594	RCV001308546;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218021	108218021	108218021	-
NM_000051.4(ATM):c.8601A>G (p.Gly2867=)	472	ATM	Likely benign	1565567027	RCV000771697\|RCV000936989;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218022	108218022		-
NM_000051.4(ATM):c.8602C>A (p.Leu2868Ile)	472	ATM	Uncertain significance	587780642	RCV000122889;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218023	108218023	NC_000011.9:g.108218023C>A	ClinGen:CA332360	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8602C>G (p.Leu2868Val)	472	ATM	Uncertain significance	587780642	RCV000706783\|RCV003353001;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218023	108218023	11:g.108218023C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8604T>G (p.Leu2868=)	472	ATM	Likely benign	2088545756	RCV001189294\|RCV001467227;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218025	108218025		-
NM_000051.4(ATM):c.8605G>A (p.Gly2869Ser)	472	ATM	Uncertain significance	748855312	RCV000822176;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218026	108218026	11:g.108218026G>A	-
NM_000051.4(ATM):c.8606G>A (p.Gly2869Asp)	472	ATM	Uncertain significance	1555139531	RCV000627924\|RCV002448916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218027	108218027	NC_000011.9:g.108218027G>A	ClinGen:CA382520532	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8606G>C (p.Gly2869Ala)	472	ATM	Uncertain significance	1555139531	RCV000695648\|RCV002442467;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218027	108218027	11:g.108218027G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8608_8650dup (p.Glu2884delinsGlyTer)	472	ATM	Pathogenic	1591273850	RCV000811038;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218028	108218029	11:g.108218028_108218029insGATAGACATGTACAGAATATCTTGATAAATGAGCAGTCAGCAG	-
NM_000051.4(ATM):c.8607T>G (p.Gly2869=)	472	ATM	Likely benign	-1	RCV002852406;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218028	108218028		-
NM_000051.4(ATM):c.8608G>A (p.Asp2870Asn)	472	ATM	Uncertain significance	55798854	RCV000463528\|RCV002446806;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218029	108218029	NC_000011.9:g.108218029G>A	ClinGen:CA16613220	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8608G>T (p.Asp2870Tyr)	472	ATM	Uncertain significance	55798854	RCV001224099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218029	108218029	11:g.108218029G>T	-
NM_000051.4(ATM):c.8609A>G (p.Asp2870Gly)	472	ATM	Uncertain significance	1555139540	RCV000568239\|RCV000701666;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218030	108218030	11:g.108218030A>G	ClinGen:CA382520559	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8610T>C (p.Asp2870=)	472	ATM	Likely benign	1370524851	RCV000697779\|RCV001018087;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218031	108218031		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8611A>G (p.Arg2871Gly)	472	ATM	Uncertain significance	2088548689	RCV001057972;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218032	108218032	11:g.108218032A>G	-
NM_000051.4(ATM):c.8614C>G (p.His2872Asp)	472	ATM	Uncertain significance	2088549387	RCV001907801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218035	108218035	108218035	-
NM_000051.4(ATM):c.8614C>T (p.His2872Tyr)	472	ATM	Uncertain significance	2088549387	RCV001916479;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218035	108218035	108218035	-
NM_000051.4(ATM):c.8615_8616del (p.His2872fs)	472	ATM	Pathogenic/Likely pathogenic	1232259438	RCV000566982\|RCV001858068\|RCV002491120\|RCV003470810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MO	11	108218036	108218037	11:g.108218036_108218037del	ClinGen:CA601698941	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8615A>G (p.His2872Arg)	472	ATM	Uncertain significance	1591273938	RCV000813868\|RCV001816889\|RCV003372872;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218036	108218036	11:g.108218036A>G	-
NM_000051.4(ATM):c.8615A>T (p.His2872Leu)	472	ATM	Uncertain significance	1591273938	RCV001018088\|RCV001860891;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218036	108218036	11:g.108218036A>T	-
NM_000051.4(ATM):c.8616T>G (p.His2872Gln)	472	ATM	Uncertain significance	1555139556	RCV000543668\|RCV002448587;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218037	108218037	11:g.108218037T>G	ClinGen:CA382520686	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8616T>A (p.His2872Gln)	472	ATM	Uncertain significance	1555139556	RCV001239902;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218037	108218037	11:g.108218037T>A	-
NM_000051.4(ATM):c.8617G>A (p.Val2873Ile)	472	ATM	Uncertain significance	730881327	RCV000159663\|RCV000219224\|RCV000627883;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218038	108218038	NC_000011.9:g.108218038G>A	ClinGen:CA298084	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8618T>C (p.Val2873Ala)	472	ATM	Uncertain significance	1591274020	RCV000807192;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218039	108218039	11:g.108218039T>C	-
NM_000051.4(ATM):c.8620C>T (p.Gln2874Ter)	472	ATM	Pathogenic	2088551822	RCV001190881\|RCV001389297;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218041	108218041	11:g.108218041C>T	-
NM_000051.4(ATM):c.8621A>G (p.Gln2874Arg)	472	ATM	Uncertain significance	1565567144	RCV000772794\|RCV001856028;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218042	108218042	NC_000011.9:g.108218042A>G	-
NM_000051.4(ATM):c.8621A>C (p.Gln2874Pro)	472	ATM	Uncertain significance	1565567144	RCV001959845;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218042	108218042	108218042	-
NM_000051.4(ATM):c.8624A>G (p.Asn2875Ser)	472	ATM	Uncertain significance	587782451	RCV000131523\|RCV000458955\|RCV000520477;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108218045	108218045	11:g.108218045A>G	ClinGen:CA168300	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8624A>C (p.Asn2875Thr)	472	ATM	Uncertain significance	587782451	RCV000215637\|RCV000693312;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218045	108218045	11:g.108218045A>C	ClinGen:CA10579309	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8625_8627delinsAAAA (p.Asn2875fs)	472	ATM	Pathogenic	1565567205	RCV000687556;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218046	108218048	11:g.108218046_108218047insAAA	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8627T>C (p.Ile2876Thr)	472	ATM	Uncertain significance	2137081967	RCV002037230\|RCV002370349;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218048	108218048	108218048	-
NM_000051.4(ATM):c.8628_8629del (p.Leu2877fs)	472	ATM	Pathogenic	-1	RCV003018746;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218048	108218049	NC_000011.9:g.108218049_108218050del	-
NM_000051.4(ATM):c.8628C>T (p.Ile2876=)	472	ATM	Likely benign	1555139577	RCV000501300\|RCV002060104;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218049	108218049		ClinGen:CA476673486	CN169374 not specified;
NM_000051.4(ATM):c.8628C>A (p.Ile2876=)	472	ATM	Likely benign	1555139577	RCV001430613\|RCV002372684;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218049	108218049		-
NM_000051.4(ATM):c.8628C>G (p.Ile2876Met)	472	ATM	Uncertain significance	1555139577	RCV001889824;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218049	108218049	108218049	-
NM_000051.4(ATM):c.8629T>C (p.Leu2877=)	472	ATM	Benign/Likely benign	730881279	RCV000159599\|RCV000204820\|RCV000212089;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108218050	108218050		ClinGen:CA297975	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8632A>C (p.Ile2878Leu)	472	ATM	Uncertain significance	1591274185	RCV001018107\|RCV001047993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218053	108218053	11:g.108218053A>C	-
NM_000051.4(ATM):c.8633T>C (p.Ile2878Thr)	472	ATM	Uncertain significance	972293256	RCV001065302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218054	108218054	11:g.108218054T>C	-
NM_000051.4(ATM):c.8636dup (p.Asn2879fs)	472	ATM	Pathogenic	2137082728	RCV001388150;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218054	108218055	108218054	-
NM_000051.4(ATM):c.8634A>G (p.Ile2878Met)	472	ATM	Uncertain significance	2088556289	RCV001047490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218055	108218055	11:g.108218055A>G	-
NM_000051.4(ATM):c.8636A>G (p.Asn2879Ser)	472	ATM	Uncertain significance	1565567277	RCV000702680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218057	108218057	11:g.108218057A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8638G>A (p.Glu2880Lys)	472	ATM	Uncertain significance	771930635	RCV002023519;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218059	108218059	108218059	-
NM_000051.4(ATM):c.8641C>T (p.Gln2881Ter)	472	ATM	Pathogenic	1057520672	RCV000421983\|RCV001386462\|RCV002446664;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218062	108218062	11:g.108218062C>T	ClinGen:CA16606855	CN517202 not provided;
NM_000051.4(ATM):c.8642A>G (p.Gln2881Arg)	472	ATM	Uncertain significance	1555139623	RCV000582778\|RCV002529203;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218063	108218063	11:g.108218063A>G	ClinGen:CA382520973	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8643G>T (p.Gln2881His)	472	ATM	Uncertain significance	1591274305	RCV000811431;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218064	108218064	11:g.108218064G>T	-
NM_000051.4(ATM):c.8652A>C (p.Glu2884Asp)	472	ATM	Uncertain significance	-1	RCV002685496;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218073	108218073	NC_000011.9:g.108218073A>C	-
NM_000051.4(ATM):c.8655dup (p.Val2886fs)	472	ATM	Pathogenic	753961188	RCV000486055\|RCV000569773\|RCV000690610\|RCV001354733\|RCV001798858\|RCV003155946;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN221562\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108218074	108218075	NC_000011.9:g.108218076dup	ClinGen:CA6266402	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8653C>T (p.Leu2885Phe)	472	ATM	Uncertain significance	775185939	RCV000558899;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218074	108218074	11:g.108218074C>T	ClinGen:CA6266403	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8654T>A (p.Leu2885His)	472	ATM	Uncertain significance	2088560069	RCV001338244;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218075	108218075	108218075	-
NM_000051.4(ATM):c.8655T>C (p.Leu2885=)	472	ATM	Likely benign	1555139640	RCV000565122\|RCV001493676;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218076	108218076		ClinGen:CA476673502	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8656G>A (p.Val2886Ile)	472	ATM	Uncertain significance	1064795066	RCV000483866\|RCV000704042\|RCV001018134\|RCV003470570;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108218077	108218077	11:g.108218077G>A	ClinGen:CA16619265	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8656G>C (p.Val2886Leu)	472	ATM	Uncertain significance	-1	RCV003051935;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218077	108218077	NC_000011.9:g.108218077G>C	-
NM_000051.4(ATM):c.8658A>T (p.Val2886=)	472	ATM	Likely benign	1377662728	RCV001450714\|RCV002445024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218079	108218079		-
NM_000051.4(ATM):c.8658A>C (p.Val2886=)	472	ATM	Likely benign	1377662728	RCV001462281;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218079	108218079		-
NM_000051.4(ATM):c.8659C>G (p.His2887Asp)	472	ATM	Uncertain significance	1591274530	RCV000795716\|RCV001729706;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108218080	108218080	11:g.108218080C>G	-
NM_000051.4(ATM):c.8659C>T (p.His2887Tyr)	472	ATM	Uncertain significance	1591274530	RCV001863409;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218080	108218080	108218080	-
NM_000051.4(ATM):c.8660A>C (p.His2887Pro)	472	ATM	Uncertain significance	864622173	RCV000205815\|RCV000780918\|RCV002444824\|RCV003325467;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108218081	108218081	NC_000011.9:g.108218081A>C	ClinGen:CA349936	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8660A>G (p.His2887Arg)	472	ATM	Uncertain significance	864622173	RCV000221428\|RCV001216772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218081	108218081	11:g.108218081A>G	ClinGen:CA10579311	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8661T>C (p.His2887=)	472	ATM	Likely benign	-1	RCV003061926;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218082	108218082		-
NM_000051.4(ATM):c.8662A>T (p.Ile2888Leu)	472	ATM	Uncertain significance	2088562912	RCV001229336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218083	108218083	11:g.108218083A>T	-
NM_000051.4(ATM):c.8663T>C (p.Ile2888Thr)	472	ATM	Uncertain significance	760955058	RCV000236304\|RCV000468411\|RCV000563977;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218084	108218084	NC_000011.9:g.108218084T>C	ClinGen:CA6266404	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8663T>G (p.Ile2888Arg)	472	ATM	Uncertain significance	760955058	RCV001211859\|RCV002447078;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218084	108218084	11:g.108218084T>G	-
NM_000051.4(ATM):c.8663del (p.Ile2888fs)	472	ATM	Pathogenic	2137085814	RCV001385605;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218084	108218084	108218083	-
NM_000051.4(ATM):c.8663T>A (p.Ile2888Lys)	472	ATM	Uncertain significance	-1	RCV002774826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218084	108218084	NC_000011.9:g.108218084T>A	-
NM_000051.4(ATM):c.8664A>G (p.Ile2888Met)	472	ATM	Uncertain significance	769052707	RCV001316252;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218085	108218085	108218085	-
NM_000051.4(ATM):c.8665G>C (p.Asp2889His)	472	ATM	Uncertain significance	587781814	RCV000130085\|RCV000702410;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218086	108218086	11:g.108218086G>C	ClinGen:CA165673	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8665G>A (p.Asp2889Asn)	472	ATM	Uncertain significance	587781814	RCV000772280\|RCV001047217;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218086	108218086	NC_000011.9:g.108218086G>A	-
NM_000051.4(ATM):c.8665G>T (p.Asp2889Tyr)	472	ATM	Uncertain significance	587781814	RCV002044676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218086	108218086	108218086	-
NM_000051.4(ATM):c.8666A>G (p.Asp2889Gly)	472	ATM	Uncertain significance	876658236	RCV000222164\|RCV001042029;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218087	108218087	11:g.108218087A>G	ClinGen:CA10579312	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8668_8671+9del	472	ATM	Likely pathogenic	2088564736	RCV001233729;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218087	108218099	11:g.108218087_108218099del	-
NM_000051.4(ATM):c.8667T>G (p.Asp2889Glu)	472	ATM	Uncertain significance	1565567506	RCV000699089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218088	108218088	11:g.108218088T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8667T>A (p.Asp2889Glu)	472	ATM	Uncertain significance	1565567506	RCV001988528\|RCV002370661;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218088	108218088	108218088	-
NM_000051.4(ATM):c.8668C>G (p.Leu2890Val)	472	ATM	Uncertain significance	587779874	RCV000115268\|RCV000628131\|RCV002371943;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218089	108218089	NC_000011.9:g.108218089C>G	ClinGen:CA287027,UniProtKB:Q13315#VAR_010888	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8668C>T (p.Leu2890=)	472	ATM	Likely benign	587779874	RCV001186841\|RCV001394982;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218089	108218089		-
NM_000051.4(ATM):c.8668C>A (p.Leu2890Ile)	472	ATM	Uncertain significance	587779874	RCV001212313;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218089	108218089	11:g.108218089C>A	-
NM_000051.4(ATM):c.8669T>C (p.Leu2890Pro)	472	ATM	Uncertain significance	2088565976	RCV001221570\|RCV002447116;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218090	108218090	11:g.108218090T>C	-
NM_000051.4(ATM):c.8671G>A (p.Gly2891Ser)	472	ATM	Uncertain significance	1565567541	RCV000691974\|RCV002369862;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218092	108218092	11:g.108218092G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8671G>T (p.Gly2891Cys)	472	ATM	Uncertain significance	1565567541	RCV001066979\|RCV003469255;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108218092	108218092	11:g.108218092G>T	-
NM_000051.4(ATM):c.8671G>C (p.Gly2891Arg)	472	ATM	Uncertain significance	1565567541	RCV002041955\|RCV002282615\|RCV002370361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218092	108218092	108218092	-
NM_000051.4(ATM):c.8671+1G>T	472	ATM	Likely pathogenic	1555139694	RCV000542860\|RCV003235271;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108218093	108218093	11:g.108218093G>T	ClinGen:CA382521374	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8671+2dup	472	ATM	Uncertain significance	1555139698	RCV000627942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218093	108218094	NC_000011.9:g.108218094dup	ClinGen:CA658797768	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8671+1G>A	472	ATM	Likely pathogenic	-1	RCV002623901\|RCV003358111;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218093	108218093	NC_000011.9:g.108218093G>A	-
NM_000051.4(ATM):c.8671+2T>C	472	ATM	Likely pathogenic	1057516229	RCV000411013;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218094	108218094	11:g.108218094T>C	ClinGen:CA16041430	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8671+4A>C	472	ATM	Uncertain significance	876660652	RCV001203385\|RCV002447053;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108218096	108218096	11:g.108218096A>C	-
NM_000051.4(ATM):c.8671+6T>C	472	ATM	Uncertain significance	2088568547	RCV001350952;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218098	108218098	108218098	-
NM_000051.4(ATM):c.8671+6T>G	472	ATM	Uncertain significance	2088568547	RCV001890023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218098	108218098	108218098	-
NM_000051.4(ATM):c.8671+9T>G	472	ATM	Conflicting interpretations of pathogenicity	200190537	RCV000123717\|RCV000448274\|RCV000589757\|RCV000988738\|RCV002288615;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108218101	108218101	11:g.108218101T>G	ClinGen:CA289528	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8671+9T>C	472	ATM	Likely benign	200190537	RCV000559824;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218101	108218101	11:g.108218101T>C	ClinGen:CA601698942	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8671+13A>G	472	ATM	Likely benign	-1	RCV002871306;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218105	108218105	NC_000011.9:g.108218105A>G	-
NM_000051.4(ATM):c.8671+15C>G	472	ATM	Uncertain significance	1438943849	RCV001190688\|RCV001859144;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218107	108218107	11:g.108218107C>G	-
NM_000051.4(ATM):c.8671+15C>A	472	ATM	Likely benign	1438943849	RCV002180189;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218107	108218107	108218107	-
NM_000051.4(ATM):c.8671+17A>G	472	ATM	Likely benign	765608446	RCV000776307\|RCV002067326;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218109	108218109	NC_000011.9:g.108218109A>G	-
NM_000051.4(ATM):c.8671+18T>C	472	ATM	Benign/Likely benign	763189977	RCV000581636\|RCV001692212\|RCV002061697;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218110	108218110	11:g.108218110T>C	ClinGen:CA6266409	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8671+19G>C	472	ATM	Likely benign	1308810219	RCV000601201\|RCV002064043;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218111	108218111	11:g.108218111G>C	ClinGen:CA601698946	CN169374 not specified;
NM_000051.4(ATM):c.8671+19G>T	472	ATM	Likely benign	1308810219	RCV002194946;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218111	108218111	108218111	-
NM_000051.4(ATM):c.8671+20T>C	472	ATM	Likely benign	1057521774	RCV000435788\|RCV002065072;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108218112	108218112	11:g.108218112T>C	ClinGen:CA16606856	CN169374 not specified;
NM_000051.4(ATM):c.8672-20C>A	472	ATM	Likely benign	-1	RCV002637125;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224473	108224473	NC_000011.9:g.108224473C>A	-
NC_000011.9:g.(?_108224473)_(108332286_?)del	472	ATM	Pathogenic	-1	RCV003119180;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224473	108332286		-
NM_000051.4(ATM):c.8672-19A>T	472	ATM	Likely benign	1381779608	RCV002106856;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224474	108224474	108224474	-
NM_000051.4(ATM):c.8672-13T>G	472	ATM	Conflicting interpretations of pathogenicity	730881280	RCV000159600\|RCV001857580;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224480	108224480	NC_000011.9:g.108224480T>G	ClinGen:CA297978	CN169374 not specified;
NM_000051.4(ATM):c.8672-11_8672-5delinsAA	472	ATM	Uncertain significance	2089488486	RCV001224100;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224482	108224488	11:g.108224483_108224488del	-
NM_000051.4(ATM):c.8672-6_8672-2del	472	ATM	Uncertain significance	2089488857	RCV001243302\|RCV002225811;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108224482	108224486	11:g.108224482_108224486del	-
NM_000051.4(ATM):c.8672-11C>A	472	ATM	Uncertain significance	-1	RCV002880271;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224482	108224482	NC_000011.9:g.108224482C>A	-
NC_000011.10:g.(?_108353756)_(108354884_?)del	472	ATM	Pathogenic	-1	RCV001033166;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224483	108225611	-1	-
NM_000051.4(ATM):c.8672-9T>C	472	ATM	Conflicting interpretations of pathogenicity	2137283941	RCV002210666\|RCV002266110;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108224484	108224484	108224484	-
NM_000051.4(ATM):c.8672-8T>C	472	ATM	Likely benign	-1	RCV002839039;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224485	108224485	NC_000011.9:g.108224485T>C	-
NM_000051.4(ATM):c.8672-7A>G	472	ATM	Likely benign	2137284033	RCV001412016;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224486	108224486	108224486	-
NM_000051.4(ATM):c.8672-5T>C	472	ATM	Conflicting interpretations of pathogenicity	1591306315	RCV001480501\|RCV002372553;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224488	108224488	11:g.108224488T>C	-
NM_000051.4(ATM):c.8672-5T>G	472	ATM	Uncertain significance	1591306315	RCV001068630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224488	108224488	11:g.108224488T>G	-
NM_000051.4(ATM):c.8672-3T>C	472	ATM	Uncertain significance	1060501550	RCV000457502;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224490	108224490	NC_000011.9:g.108224490T>C	ClinGen:CA16613518	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8672-3T>G	472	ATM	Uncertain significance	1060501550	RCV001356120\|RCV000698390\|RCV001805813\|RCV003465604;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224490	108224490	11:g.108224490T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8672-1G>C	472	ATM	Pathogenic/Likely pathogenic	876660088	RCV000320277\|RCV001855068;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224492	108224492	11:g.108224492G>C	ClinGen:CA10603097	CN517202 not provided;
NM_001330368.2(C11orf65):c.640+32155del	472	ATM	Pathogenic	779170307	RCV001066449\|RCV001189736;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224492	108224492	11:g.108224492_108224492del	-
NM_000051.4(ATM):c.8672-1G>A	472	ATM	Likely pathogenic	876660088	RCV001215246\|RCV002375184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224492	108224492	11:g.108224492G>A	-
NM_000051.4(ATM):c.8672G>A (p.Gly2891Asp)	472	ATM	Uncertain significance	748192003	RCV000196162\|RCV000571315\|RCV001529507\|RCV002469060;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108224493	108224493	NC_000011.9:g.108224493G>A	ClinGen:CA336203	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8672G>T (p.Gly2891Val)	472	ATM	Uncertain significance	748192003	RCV000536441\|RCV001555327\|RCV002448588\|RCV003470688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224493	108224493	11:g.108224493G>T	ClinGen:CA382523445	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8672G>C (p.Gly2891Ala)	472	ATM	Uncertain significance	-1	RCV002300112\|RCV003308123;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224493	108224493	108224493	-
NM_000051.4(ATM):c.8676dup (p.Ala2893fs)	472	ATM	Pathogenic	2089492486	RCV001189853\|RCV001859138;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224495	108224496	11:g.108224495_108224496insT	-
NM_000051.4(ATM):c.8675T>C (p.Val2892Ala)	472	ATM	Uncertain significance	1591306442	RCV000820520\|RCV002372340;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224496	108224496	11:g.108224496T>C	-
NM_000051.4(ATM):c.8677G>A (p.Ala2893Thr)	472	ATM	Uncertain significance	1555142808	RCV000548922;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224498	108224498	11:g.108224498G>A	ClinGen:CA382523467	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8677G>C (p.Ala2893Pro)	472	ATM	Uncertain significance	1555142808	RCV001979580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224498	108224498	108224498	-
NM_000051.4(ATM):c.8677_8685del (p.Ala2893_Glu2895del)	472	ATM	Uncertain significance	2137285531	RCV001937781;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224498	108224506	108224497	-
NM_000051.4(ATM):c.8678C>A (p.Ala2893Asp)	472	ATM	Uncertain significance	2089493277	RCV001945569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224499	108224499	108224499	-
NM_000051.4(ATM):c.8683G>C (p.Glu2895Gln)	472	ATM	Uncertain significance	769951912	RCV001047247;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224504	108224504	11:g.108224504G>C	-
NM_000051.4(ATM):c.8686_8694del (p.Gln2896_Lys2898del)	472	ATM	Uncertain significance	1060501671	RCV000461274;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224505	108224513	NC_000011.9:g.108224507_108224515del	ClinGen:CA16613173	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8686C>T (p.Gln2896Ter)	472	ATM	Pathogenic	2137286457	RCV001866312\|RCV003332352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108224507	108224507	108224507	-
NM_000051.4(ATM):c.8687A>C (p.Gln2896Pro)	472	ATM	Conflicting interpretations of pathogenicity	2089494486	RCV001309869;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224508	108224508	108224508	-
NM_000051.4(ATM):c.8687A>G (p.Gln2896Arg)	472	ATM	Uncertain significance	2089494486	RCV001890490;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224508	108224508	108224508	-
NM_000051.4(ATM):c.8690del (p.Gly2897fs)	472	ATM	Pathogenic	2137286889	RCV001387998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224509	108224509	108224508	-
NM_000051.4(ATM):c.8689G>A (p.Gly2897Ser)	472	ATM	Uncertain significance	2089494758	RCV001057954;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224510	108224510	11:g.108224510G>A	-
NM_000051.4(ATM):c.8689G>T (p.Gly2897Cys)	472	ATM	Uncertain significance	2089494758	RCV001875123\|RCV002449513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224510	108224510	108224510	-
NM_000051.4(ATM):c.8690G>A (p.Gly2897Asp)	472	ATM	Uncertain significance	1591306536	RCV001018194\|RCV002481825;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224511	108224511	11:g.108224511G>A	-
NM_000051.4(ATM):c.8691C>A (p.Gly2897=)	472	ATM	Likely benign	1555142814	RCV000572137\|RCV001431430;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224512	108224512		ClinGen:CA476673803	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8695dup (p.Ile2899fs)	472	ATM	Pathogenic/Likely pathogenic	1555142816	RCV000657337\|RCV001234056\|RCV002369777\|RCV003459557;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224512	108224513	NC_000011.9:g.108224516dup	-	CN517202 not provided;
NM_000051.4(ATM):c.8692A>G (p.Lys2898Glu)	472	ATM	Uncertain significance	2137287369	RCV002035940\|RCV003471260;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224513	108224513	108224513	-
NM_000051.4(ATM):c.8695A>C (p.Ile2899Leu)	472	ATM	Uncertain significance	1591306598	RCV001932110;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224516	108224516	108224516	-
NM_000051.4(ATM):c.8697C>G (p.Ile2899Met)	472	ATM	Uncertain significance	1333079704	RCV000628043\|RCV001018196;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224518	108224518	NC_000011.9:g.108224518C>G	ClinGen:CA382523673	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8698C>A (p.Leu2900Ile)	472	ATM	Uncertain significance	2089496713	RCV001206951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224519	108224519	11:g.108224519C>A	-
NM_000051.4(ATM):c.8700T>C (p.Leu2900=)	472	ATM	Likely benign	2137288094	RCV002200211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224521	108224521		-
NM_000051.4(ATM):c.8704A>G (p.Thr2902Ala)	472	ATM	Uncertain significance	2137288475	RCV001973633\|RCV003151372;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108224525	108224525	108224525	-
NM_000051.4(ATM):c.8705C>T (p.Thr2902Ile)	472	ATM	Uncertain significance	1591306636	RCV001018207\|RCV001059139;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224526	108224526	11:g.108224526C>T	-
NM_000051.4(ATM):c.8705C>A (p.Thr2902Asn)	472	ATM	Uncertain significance	-1	RCV002299859;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224526	108224526	108224526	-
NM_000051.4(ATM):c.8707_8709del (p.Pro2903del)	472	ATM	Uncertain significance	-1	RCV002823776;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224526	108224528	NC_000011.9:g.108224528_108224530del	-
NM_000051.4(ATM):c.8707C>T (p.Pro2903Ser)	472	ATM	Uncertain significance	1591306666	RCV001018208\|RCV001210672;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224528	108224528	11:g.108224528C>T	-
NM_000051.4(ATM):c.8708C>T (p.Pro2903Leu)	472	ATM	Likely pathogenic	2089498194	RCV001352889;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224529	108224529	108224529	-
NM_000051.4(ATM):c.8709T>C (p.Pro2903=)	472	ATM	Likely benign	773208089	RCV001018209\|RCV001394700;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224530	108224530		-
NM_000051.4(ATM):c.8710G>C (p.Glu2904Gln)	472	ATM	Uncertain significance	1591306697	RCV000817006\|RCV001018216\|RCV002284443;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108224531	108224531	11:g.108224531G>C	-
NM_000051.4(ATM):c.8711A>G (p.Glu2904Gly)	472	ATM	Likely pathogenic	786202826	RCV000165842\|RCV000230822\|RCV000659280;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224532	108224532	11:g.108224532A>G	ClinGen:CA194327,UniProtKB:Q13315#VAR_010889	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8712G>A (p.Glu2904=)	472	ATM	Likely benign	1349488841	RCV001439135\|RCV002445129;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224533	108224533		-
NM_000051.4(ATM):c.8712G>C (p.Glu2904Asp)	472	ATM	Conflicting interpretations of pathogenicity	-1	RCV002373459\|RCV003100007;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224533	108224533	108224533	-
NM_000051.4(ATM):c.8715A>G (p.Thr2905=)	472	ATM	Likely benign	786202933	RCV000166007\|RCV000979737\|RCV001201196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108224536	108224536		ClinGen:CA194758	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8715A>C (p.Thr2905=)	472	ATM	Likely benign	-1	RCV003033289;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224536	108224536		-
NM_000051.4(ATM):c.8716G>A (p.Val2906Ile)	472	ATM	Uncertain significance	587780643	RCV000122890\|RCV000573392\|RCV000779782\|RCV003319321\|RCV003460867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224537	108224537	NC_000011.9:g.108224537G>A	ClinGen:CA332363	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8717T>C (p.Val2906Ala)	472	ATM	Uncertain significance	730881328	RCV000159664\|RCV000628195\|RCV001018231;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224538	108224538	NC_000011.9:g.108224538T>C	ClinGen:CA298087	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8718T>A (p.Val2906=)	472	ATM	Likely benign	1591306810	RCV001425671;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224539	108224539		-
NM_000051.4(ATM):c.8720C>G (p.Pro2907Arg)	472	ATM	Uncertain significance	56887719	RCV000223115\|RCV000810150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224541	108224541	11:g.108224541C>G	ClinGen:CA6266428	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8720C>A (p.Pro2907His)	472	ATM	Uncertain significance	56887719	RCV000628190;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224541	108224541	NC_000011.9:g.108224541C>A	ClinGen:CA382523861	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8725A>T (p.Arg2909Ter)	472	ATM	Pathogenic/Likely pathogenic	1555142845	RCV000576664\|RCV002448810\|RCV003459413;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224546	108224546	11:g.108224546A>T	ClinGen:CA382523884	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8726G>A (p.Arg2909Lys)	472	ATM	Uncertain significance	759905760	RCV001228590;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224547	108224547	11:g.108224547G>A	-
NM_000051.4(ATM):c.8730C>G (p.Leu2910=)	472	ATM	Benign/Likely benign	551041839	RCV000164225\|RCV000444064\|RCV001084626\|RCV001356058\|RCV001573723\|RCV002225392\|RCV003315811\|RCV003149834;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108224551	108224551		ClinGen:CA190390
NM_000051.4(ATM):c.8730C>A (p.Leu2910=)	472	ATM	Likely benign	551041839	RCV001416113\|RCV002374844;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224551	108224551		ClinGen:CA16613519
NM_000051.4(ATM):c.8731dup (p.Thr2911fs)	472	ATM	Pathogenic/Likely pathogenic	2137291352	RCV001911585\|RCV003471022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224551	108224552	108224551	-
NM_000051.4(ATM):c.8731A>C (p.Thr2911Pro)	472	ATM	Uncertain significance	786203271	RCV000561059\|RCV000808038;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224552	108224552	NC_000011.9:g.108224552A>C	ClinGen:CA382523911	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8732C>T (p.Thr2911Ile)	472	ATM	Conflicting interpretations of pathogenicity	794728018	RCV000181011\|RCV000214902\|RCV000486041\|RCV000537344\|RCV002465556;	N	MedGen:C4016951\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108224553	108224553	NC_000011.9:g.108224553C>T	ClinGen:CA203836	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8732C>G (p.Thr2911Ser)	472	ATM	Uncertain significance	794728018	RCV001236381\|RCV002255635;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224553	108224553	11:g.108224553C>G	-
NM_000051.4(ATM):c.8733del (p.Arg2912fs)	472	ATM	Pathogenic	-1	RCV003236403;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224553	108224553		-
NM_000051.4(ATM):c.8733C>A (p.Thr2911=)	472	ATM	Likely benign	1057523011	RCV000423764\|RCV000576028\|RCV000940879;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224554	108224554		ClinGen:CA16606857	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8733C>T (p.Thr2911=)	472	ATM	Likely benign	1057523011	RCV001464719;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224554	108224554		-
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly)	472	ATM	Uncertain significance	376676328	RCV000120167\|RCV000122892\|RCV000131723\|RCV000515325\|RCV000656766\|RCV001196874\|RCV001355184;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108224555	108224555	11:g.108224555A>G	ClinGen:CA157198	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8737_8738del (p.Asp2913fs)	472	ATM	Pathogenic	2137291785	RCV001953853;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224555	108224556	108224554	-
NM_000051.4(ATM):c.8735G>C (p.Arg2912Thr)	472	ATM	Uncertain significance	2089507361	RCV001306089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224556	108224556	108224556	-
NM_000051.4(ATM):c.8737G>C (p.Asp2913His)	472	ATM	Uncertain significance	756899044	RCV000216806\|RCV000234738\|RCV002478794\|RCV003462464;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224558	108224558	11:g.108224558G>C	ClinGen:CA6266430	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8737G>T (p.Asp2913Tyr)	472	ATM	Pathogenic/Likely pathogenic	756899044	RCV000221292\|RCV000802642\|RCV003316210;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224558	108224558	11:g.108224558G>T	ClinGen:CA10579315	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8739T>G (p.Asp2913Glu)	472	ATM	Uncertain significance	764778912	RCV000474802\|RCV001182537;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224560	108224560	NC_000011.9:g.108224560T>G	ClinGen:CA6266431	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8739T>C (p.Asp2913=)	472	ATM	Likely benign	764778912	RCV001018258\|RCV002068962;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224560	108224560		-
NM_000051.4(ATM):c.8741T>C (p.Ile2914Thr)	472	ATM	Uncertain significance	780303327	RCV000167039\|RCV000668579\|RCV001507797\|RCV002485037\|RCV003468798;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108224562	108224562	11:g.108224562T>C	ClinGen:CA197345	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8742T>G (p.Ile2914Met)	472	ATM	Uncertain significance	587782264	RCV000130993\|RCV001363951;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224563	108224563	11:g.108224563T>G	ClinGen:CA167513	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8743G>A (p.Val2915Met)	472	ATM	Uncertain significance	2089510680	RCV001343212;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224564	108224564	108224564	-
NM_000051.4(ATM):c.8744T>C (p.Val2915Ala)	472	ATM	Uncertain significance	2089511171	RCV001323467;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224565	108224565	108224565	-
NM_000051.4(ATM):c.8746G>A (p.Asp2916Asn)	472	ATM	Uncertain significance	150874041	RCV001071693\|RCV002445369;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224567	108224567	11:g.108224567G>A	-
NM_000051.4(ATM):c.8747A>T (p.Asp2916Val)	472	ATM	Uncertain significance	2137293159	RCV002027209;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224568	108224568	108224568	-
NM_000051.4(ATM):c.8748T>C (p.Asp2916=)	472	ATM	Likely benign	2137293260	RCV002145126;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224569	108224569		-
NM_000051.4(ATM):c.8749G>A (p.Gly2917Ser)	472	ATM	Uncertain significance	2137293373	RCV001967248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224570	108224570	108224570	-
NM_000051.4(ATM):c.8751C>G (p.Gly2917=)	472	ATM	Likely benign	779858366	RCV000163553\|RCV001399487;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224572	108224572		ClinGen:CA188599	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8751C>T (p.Gly2917=)	472	ATM	Likely benign	779858366	RCV000550389\|RCV002221552\|RCV002376973;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224572	108224572		ClinGen:CA6266433	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8752A>T (p.Met2918Leu)	472	ATM	Uncertain significance	1555142873	RCV000561263\|RCV000807592;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224573	108224573	NC_000011.9:g.108224573A>T	ClinGen:CA382524087	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8754G>A (p.Met2918Ile)	472	ATM	Uncertain significance	2137293810	RCV001934969;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224575	108224575	108224575	-
NM_000051.4(ATM):c.8756G>A (p.Gly2919Asp)	472	ATM	Uncertain significance	2137294046	RCV001907058\|RCV003355634;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224577	108224577	108224577	-
NM_000051.4(ATM):c.8756G>C (p.Gly2919Ala)	472	ATM	Uncertain significance	-1	RCV002832789;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224577	108224577	NC_000011.9:g.108224577G>C	-
NM_000051.4(ATM):c.8757C>T (p.Gly2919=)	472	ATM	Likely benign	987508358	RCV000424125\|RCV000776549\|RCV000815144;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224578	108224578		ClinGen:CA16606220	CN169374 not specified;
NM_000051.4(ATM):c.8759T>C (p.Ile2920Thr)	472	ATM	Uncertain significance	1565579485	RCV000691115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224580	108224580	11:g.108224580T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8761dup (p.Thr2921fs)	472	ATM	Pathogenic	-1	RCV002881389;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224581	108224582	NC_000011.9:g.108224582dup	-
NM_000051.4(ATM):c.8762C>A (p.Thr2921Lys)	472	ATM	Uncertain significance	730881329	RCV000159665\|RCV000212090\|RCV000538842\|RCV002469032;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108224583	108224583	NC_000011.9:g.108224583C>A	ClinGen:CA298090	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8762C>T (p.Thr2921Met)	472	ATM	Uncertain significance	730881329	RCV000483405\|RCV000551322\|RCV000569007;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224583	108224583	11:g.108224583C>T	ClinGen:CA6266435	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8763G>A (p.Thr2921=)	472	ATM	Conflicting interpretations of pathogenicity	781528244	RCV000163433\|RCV000700345\|RCV001651032;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108224584	108224584		ClinGen:CA188268
NM_000051.4(ATM):c.8763G>T (p.Thr2921=)	472	ATM	Likely benign	781528244	RCV000439454\|RCV001485867\|RCV002374688;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224584	108224584		ClinGen:CA6266436	CN169374 not specified;
NM_000051.4(ATM):c.8766dup (p.Val2923fs)	472	ATM	Pathogenic	876660813	RCV000213336\|RCV001384472\|RCV003326377\|RCV003155935;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224586	108224587	11:g.108224586_108224587insT	ClinGen:CA10579317	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8765G>T (p.Gly2922Val)	472	ATM	Uncertain significance	2089517173	RCV001055712;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224586	108224586	11:g.108224586G>T	-
NM_000051.4(ATM):c.8765G>A (p.Gly2922Asp)	472	ATM	Uncertain significance	2089517173	RCV001971113\|RCV002370641;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224586	108224586	108224586	-
NM_000051.4(ATM):c.8766T>C (p.Gly2922=)	472	ATM	Likely benign	1166849874	RCV001431931;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224587	108224587		-
NM_000051.4(ATM):c.8769T>C (p.Val2923=)	472	ATM	Likely benign	1591307335	RCV001497193\|RCV002372595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224590	108224590		-
NM_000051.4(ATM):c.8769T>G (p.Val2923=)	472	ATM	Likely benign	1591307335	RCV001394690;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224590	108224590		-
NM_000051.4(ATM):c.8770G>A (p.Glu2924Lys)	472	ATM	Uncertain significance	2137295860	RCV001967675\|RCV002370580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224591	108224591	108224591	-
NM_000051.4(ATM):c.8772A>C (p.Glu2924Asp)	472	ATM	Uncertain significance	2089519648	RCV001066101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224593	108224593	11:g.108224593A>C	-
NM_000051.4(ATM):c.8773G>A (p.Gly2925Ser)	472	ATM	Uncertain significance	876658519	RCV000214698\|RCV000822581;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224594	108224594	11:g.108224594G>A	ClinGen:CA10579318	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8773G>C (p.Gly2925Arg)	472	ATM	Uncertain significance	876658519	RCV000791732;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224594	108224594	11:g.108224594G>C	-
NM_000051.4(ATM):c.8774G>T (p.Gly2925Val)	472	ATM	Uncertain significance	769959260	RCV000494252\|RCV001865534;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224595	108224595	NC_000011.9:g.108224595G>T	ClinGen:CA382524281	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8774G>A (p.Gly2925Asp)	472	ATM	Uncertain significance	769959260	RCV000700847\|RCV003372823;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224595	108224595	NC_000011.9:g.108224595G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8774G>C (p.Gly2925Ala)	472	ATM	Uncertain significance	769959260	RCV000701007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224595	108224595	11:g.108224595G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8776G>A (p.Val2926Ile)	472	ATM	Uncertain significance	2137296380	RCV001367693;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224597	108224597	108224597	-
NM_000051.4(ATM):c.8777T>G (p.Val2926Gly)	472	ATM	Uncertain significance	773329421	RCV001302002;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224598	108224598	108224598	-
NM_000051.4(ATM):c.8777T>C (p.Val2926Ala)	472	ATM	Uncertain significance	-1	RCV002297148;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224598	108224598	108224598	-
NM_000051.4(ATM):c.8779_8780del (p.Phe2927fs)	472	ATM	Pathogenic	2089522875	RCV001207051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224600	108224601	11:g.108224600_108224601del	-
NM_000051.4(ATM):c.8780del (p.Phe2927fs)	472	ATM	Pathogenic	2089522517	RCV001228385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224600	108224600	11:g.108224600_108224600del	-
NM_000051.4(ATM):c.8779T>A (p.Phe2927Ile)	472	ATM	Uncertain significance	-1	RCV002303803;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224600	108224600	108224600	-
NM_000051.4(ATM):c.8781_8786+2del	472	ATM	Pathogenic	1591307438	RCV000817233;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224601	108224608	11:g.108224601_108224608del	-
NM_000051.4(ATM):c.8781C>T (p.Phe2927=)	472	ATM	Likely benign	2137297059	RCV001437745;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224602	108224602		-
NM_000051.4(ATM):c.8783G>A (p.Arg2928Lys)	472	ATM	Uncertain significance	1555142909	RCV000563058\|RCV000824591\|RCV003459307;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224604	108224604	NC_000011.9:g.108224604G>A	ClinGen:CA382524396	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8786_8786+3del	472	ATM	Likely pathogenic	1060501569	RCV000462151\|RCV001018316;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224606	108224609	NC_000011.9:g.108224607_108224610del	ClinGen:CA16613455	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8785A>C (p.Arg2929=)	472	ATM	Conflicting interpretations of pathogenicity	1013290424	RCV000527893\|RCV001181423;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108224606	108224606		ClinGen:CA228373546	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8785A>T (p.Arg2929Ter)	472	ATM	Pathogenic	1013290424	RCV001380186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224606	108224606	108224606	-
NM_000051.4(ATM):c.8786+1G>A	472	ATM	Pathogenic/Likely pathogenic	17174393	RCV000115269\|RCV000169303\|RCV000220586\|RCV000763226\|RCV000761159\|RCV003467035;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108224608	108224608	NC_000011.9:g.108224608G>A	ClinGen:CA274150	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8786+1G>C	472	ATM	Pathogenic/Likely pathogenic	17174393	RCV000166748\|RCV000196816\|RCV000254910\|RCV003162711\|RCV003468793;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:00	11	108224608	108224608	11:g.108224608G>C	ClinGen:CA196631	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8786+1G>T	472	ATM	Pathogenic/Likely pathogenic	17174393	RCV000164050\|RCV000540315\|RCV001558979\|RCV002485015\|RCV003467284;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108224608	108224608	11:g.108224608G>T	ClinGen:CA189911	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8786+2T>A	472	ATM	Pathogenic	1555142918	RCV000628191;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224609	108224609	NC_000011.9:g.108224609T>A	ClinGen:CA382524492	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8786+2T>C	472	ATM	Pathogenic	1555142918	RCV001211633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224609	108224609	11:g.108224609T>C	-
NM_000051.4(ATM):c.8786+4A>T	472	ATM	Uncertain significance	2137297919	RCV001371378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224611	108224611	108224611	-
NM_000051.4(ATM):c.8786+5_8786+9dup	472	ATM	Likely benign	2137298148	RCV002207105;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224611	108224612	108224611	-
NM_000051.4(ATM):c.8786+6_8786+9dup	472	ATM	Likely benign	1312735736	RCV000982643;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224612	108224613	11:g.108224612_108224613insTGAT	-
NM_000051.4(ATM):c.8786+7G>A	472	ATM	Likely benign	1555142923	RCV000628268;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224614	108224614	11:g.108224614G>A	ClinGen:CA658797727	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8786+8A>C	472	ATM	Benign/Likely benign	4986839	RCV000119125\|RCV000128889\|RCV000250207\|RCV000710683\|RCV001357843\|RCV002225347\|RCV003315703;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108224615	108224615	11:g.108224615A>C	ClinGen:CA163517	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8786+8A>G	472	ATM	Likely benign	4986839	RCV000552805;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224615	108224615	NC_000011.9:g.108224615A>G	ClinGen:CA658656272	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8786+9T>C	472	ATM	Likely benign	1060504271	RCV000457405;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224616	108224616	NC_000011.9:g.108224616T>C	ClinGen:CA16613177	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8786+10A>G	472	ATM	Likely benign	1591307673	RCV001406531;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224617	108224617	11:g.108224617A>G	-
NM_000051.4(ATM):c.8786+11T>G	472	ATM	Likely benign	368627124	RCV000417912\|RCV000580658\|RCV002063410;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224618	108224618	11:g.108224618T>G	ClinGen:CA6266440	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8786+11T>C	472	ATM	Likely benign	368627124	RCV000601255\|RCV001183520\|RCV002066734;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224618	108224618	11:g.108224618T>C	ClinGen:CA6266439	CN169374 not specified;
NM_000051.4(ATM):c.8786+12G>A	472	ATM	Likely benign	767836309	RCV000772041\|RCV002061061;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224619	108224619	NC_000011.9:g.108224619G>A	-
NM_000051.4(ATM):c.8786+14A>C	472	ATM	Likely benign	2137299188	RCV001994513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224621	108224621	108224621	-
NM_000051.4(ATM):c.8786+14A>G	472	ATM	Likely benign	2137299188	RCV001911269;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224621	108224621	108224621	-
NM_000051.4(ATM):c.8786+15G>A	472	ATM	Likely benign	866338415	RCV002134799;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224622	108224622	108224622	-
NM_000051.4(ATM):c.8786+16T>C	472	ATM	Likely benign	1057521277	RCV000443411\|RCV002062474\|RCV002506035;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108224623	108224623	11:g.108224623T>C	ClinGen:CA16606137	CN169374 not specified;
NM_000051.4(ATM):c.8786+16T>G	472	ATM	Likely benign	1057521277	RCV000583033\|RCV002529204;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224623	108224623	11:g.108224623T>G	ClinGen:CA658683725	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8786+19del	472	ATM	Conflicting interpretations of pathogenicity	730881307	RCV000159636\|RCV001189737\|RCV002516423;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224624	108224624	NC_000011.9:g.108224626del	ClinGen:CA298021	CN517202 not provided;
NM_000051.4(ATM):c.8786+20G>C	472	ATM	Benign/Likely benign	56283878	RCV000432836\|RCV000579892\|RCV002061600;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224627	108224627	11:g.108224627G>C	ClinGen:CA6266442	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8786+20G>A	472	ATM	Likely benign	56283878	RCV002187211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108224627	108224627	108224627	-
NM_000051.4(ATM):c.8786+90G>A	472	ATM	Benign	179108	RCV001554133\|RCV001713134;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108224697	108224697	108224697	-
NM_000051.4(ATM):c.8787-20T>A	472	ATM	Likely benign	1352666899	RCV000581933\|RCV002061699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225518	108225518	11:g.108225518T>A	ClinGen:CA658683727	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8787-19A>G	472	ATM	Likely benign	1555143457	RCV000615622\|RCV000584521\|RCV002061698;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225519	108225519	NC_000011.9:g.108225519A>G	ClinGen:CA658683729	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8787-17_8787-15del	472	ATM	Likely benign	1349996464	RCV002112282;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225519	108225521	108225518	-
NM_000051.4(ATM):c.8787-15T>C	472	ATM	Likely benign	1057521788	RCV000418246\|RCV000775874\|RCV002065073;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225523	108225523	11:g.108225523T>C	ClinGen:CA16606139	CN169374 not specified;
NM_000051.4(ATM):c.8787-14G>A	472	ATM	Likely benign	994348665	RCV000432218\|RCV001394799;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225524	108225524	11:g.108225524G>A	ClinGen:CA16605842	CN169374 not specified;
NM_000051.4(ATM):c.8787-11_8787-8dup	472	ATM	Likely benign	-1	RCV002606860;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225524	108225525	NC_000011.9:g.108225527_108225530dup	-
NM_000051.4(ATM):c.8787-7A>G	472	ATM	Likely benign	1591313741	RCV001428801;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225531	108225531	11:g.108225531A>G	-
NM_000051.4(ATM):c.8787-6C>T	472	ATM	Conflicting interpretations of pathogenicity	1591313765	RCV000897587\|RCV002225765\|RCV002255572;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225532	108225532	11:g.108225532C>T	-
NM_000051.4(ATM):c.8787-5T>C	472	ATM	Likely benign	1479499265	RCV000528822\|RCV000615255\|RCV000773089;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225533	108225533	NC_000011.9:g.108225533T>C	ClinGen:CA601699232	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8787-4C>G	472	ATM	Likely benign	944858078	RCV000467283\|RCV000580497;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225534	108225534	NC_000011.9:g.108225534C>G	ClinGen:CA16613225	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8787-3T>C	472	ATM	Conflicting interpretations of pathogenicity	2089687765	RCV001239227\|RCV002375261;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225535	108225535	11:g.108225535T>C	-
NM_000051.4(ATM):c.8787-2A>G	472	ATM	Pathogenic/Likely pathogenic	2089688512	RCV001213644\|RCV002290641\|RCV002375176;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225536	108225536	11:g.108225536A>G	-
NM_000051.4(ATM):c.8788T>G (p.Cys2930Gly)	472	ATM	Uncertain significance	876659807	RCV000220862\|RCV000628156;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225539	108225539	11:g.108225539T>G	ClinGen:CA10579319	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8789G>T (p.Cys2930Phe)	472	ATM	Uncertain significance	1060501572	RCV000466418;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225540	108225540	NC_000011.9:g.108225540G>T	ClinGen:CA16613523	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8789G>A (p.Cys2930Tyr)	472	ATM	Uncertain significance	1060501572	RCV000582927\|RCV001307692;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225540	108225540	11:g.108225540G>A	ClinGen:CA382525530	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8790C>G (p.Cys2930Trp)	472	ATM	Uncertain significance	1565582275	RCV000709195\|RCV001018341;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225541	108225541	11:g.108225541C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8790C>T (p.Cys2930=)	472	ATM	Likely benign	1565582275	RCV002113536;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225541	108225541		-
NM_000051.4(ATM):c.8791T>C (p.Cys2931Arg)	472	ATM	Uncertain significance	2089690140	RCV001309800;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225542	108225542	108225542	-
NM_000051.4(ATM):c.8792G>C (p.Cys2931Ser)	472	ATM	Uncertain significance	1060501563	RCV000476114\|RCV002269274\|RCV002289608;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108225543	108225543	NC_000011.9:g.108225543G>C	ClinGen:CA16613524	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8792G>A (p.Cys2931Tyr)	472	ATM	Uncertain significance	1060501563	RCV000686823;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225543	108225543	11:g.108225543G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8793T>A (p.Cys2931Ter)	472	ATM	Pathogenic/Likely pathogenic	1555143494	RCV000522033\|RCV000539551\|RCV001018342\|RCV001253612;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108225544	108225544	11:g.108225544T>A	ClinGen:CA382525570	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8794G>A (p.Glu2932Lys)	472	ATM	Uncertain significance	1240328733	RCV001052433\|RCV001805998;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225545	108225545	11:g.108225545G>A	-
NM_000051.4(ATM):c.8795A>G (p.Glu2932Gly)	472	ATM	Uncertain significance	2089691352	RCV001244216;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225546	108225546	11:g.108225546A>G	-
NM_000051.4(ATM):c.8797A>G (p.Lys2933Glu)	472	ATM	Uncertain significance	587779875	RCV000115270\|RCV000772042\|RCV000799192;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225548	108225548	NC_000011.9:g.108225548A>G	ClinGen:CA287030	CN169374 not specified;
NM_000051.4(ATM):c.8797A>T (p.Lys2933Ter)	472	ATM	Pathogenic	587779875	RCV001383930;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225548	108225548	108225548	-
NM_000051.4(ATM):c.8800A>G (p.Thr2934Ala)	472	ATM	Uncertain significance	746351323	RCV000215588\|RCV000476993;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225551	108225551	11:g.108225551A>G	ClinGen:CA6266457	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8802del (p.Met2935fs)	472	ATM	Pathogenic/Likely pathogenic	876660567	RCV000218511\|RCV000410819\|RCV000657195;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108225552	108225552	11:g.108225552_108225552del	ClinGen:CA10579320	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8801C>A (p.Thr2934Asn)	472	ATM	Uncertain significance	1591314020	RCV000810767;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225552	108225552	11:g.108225552C>A	-
NM_000051.4(ATM):c.8801C>T (p.Thr2934Ile)	472	ATM	Uncertain significance	1591314020	RCV001226704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225552	108225552	11:g.108225552C>T	-
NM_000051.4(ATM):c.8802C>G (p.Thr2934=)	472	ATM	Likely benign	1565582354	RCV000772862\|RCV002536638;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225553	108225553		-
NM_000051.4(ATM):c.8804T>C (p.Met2935Thr)	472	ATM	Uncertain significance	2137348119	RCV001941213\|RCV003167361;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225555	108225555	108225555	-
NM_000051.4(ATM):c.8805G>A (p.Met2935Ile)	472	ATM	Conflicting interpretations of pathogenicity	772621438	RCV000467173\|RCV000484203\|RCV000561470\|RCV003153615\|RCV003470428;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108225556	108225556	NC_000011.9:g.108225556G>A	ClinGen:CA6266458	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8806G>C (p.Glu2936Gln)	472	ATM	Uncertain significance	1060501537	RCV000458489\|RCV000570991\|RCV001562827\|RCV002506118;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108225557	108225557	NC_000011.9:g.108225557G>C	ClinGen:CA16613178	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8810_8813dup (p.Met2938fs)	472	ATM	Pathogenic	2137348962	RCV001905827;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225560	108225561	108225560	-
NM_000051.4(ATM):c.8810T>C (p.Val2937Ala)	472	ATM	Uncertain significance	587782149	RCV000130713\|RCV000236232\|RCV000456899\|RCV000779797\|RCV003461997;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108225561	108225561	11:g.108225561T>C	ClinGen:CA166966	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8810T>A (p.Val2937Glu)	472	ATM	Uncertain significance	587782149	RCV000132413\|RCV000628128\|RCV003467195;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108225561	108225561	11:g.108225561T>A	ClinGen:CA169806	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8811G>T (p.Val2937=)	472	ATM	Likely benign	1591314147	RCV001490110\|RCV003353092;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225562	108225562		-
NM_000051.4(ATM):c.8811G>A (p.Val2937=)	472	ATM	Likely benign	1591314147	RCV001471345\|RCV002449258;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225562	108225562		-
NM_000051.4(ATM):c.8814_8824del (p.Met2938fs)	472	ATM	Pathogenic/Likely pathogenic	758814126	RCV000408957\|RCV000483094\|RCV000571341\|RCV003470335;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108225565	108225575	11:g.108225565_108225575del	ClinGen:CA6266459	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8816_8828del (p.Arg2939fs)	472	ATM	Pathogenic	2089694729	RCV001052040;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225565	108225577	11:g.108225565_108225577del	-
NM_000051.4(ATM):c.8824_8834del (p.Gln2942fs)	472	ATM	Pathogenic	2089695236	RCV001041487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225567	108225577	11:g.108225567_108225577del	-
NM_000051.4(ATM):c.8818_8821dup (p.Ser2941Ter)	472	ATM	Pathogenic	876658959	RCV000217008\|RCV000819706;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225568	108225569	NC_000011.9:g.108225569_108225572dup	ClinGen:CA10579321	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8818_8819del (p.Asn2940fs)	472	ATM	Pathogenic	2137350203	RCV001994609;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225568	108225569	108225567	-
NM_000051.4(ATM):c.8820C>T (p.Asn2940=)	472	ATM	Likely benign	775823407	RCV000164503\|RCV000904532\|RCV001697062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108225571	108225571		ClinGen:CA191125	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8823_8824del (p.Gln2942fs)	472	ATM	Pathogenic/Likely pathogenic	1555143538	RCV000569029\|RCV001071301\|RCV002465714\|RCV003459270\|RCV003409831;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|	11	108225571	108225572	11:g.108225571_108225572del	ClinGen:CA658656274	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8820C>G (p.Asn2940Lys)	472	ATM	Uncertain significance	775823407	RCV000571137\|RCV001340015;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225571	108225571	NC_000011.9:g.108225571C>G	ClinGen:CA382525871	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8821T>G (p.Ser2941Ala)	472	ATM	Uncertain significance	1555143549	RCV000545062;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225572	108225572	11:g.108225572T>G	ClinGen:CA382525884	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8822C>T (p.Ser2941Phe)	472	ATM	Uncertain significance	1591314282	RCV001018377\|RCV001827194;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225573	108225573	11:g.108225573C>T	-
NM_000051.4(ATM):c.8822C>G (p.Ser2941Cys)	472	ATM	Uncertain significance	-1	RCV002639432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225573	108225573	NC_000011.9:g.108225573C>G	-
NM_000051.4(ATM):c.8823T>C (p.Ser2941=)	472	ATM	Likely benign	1060504288	RCV000462459;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225574	108225574		ClinGen:CA16613457	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8824C>T (p.Gln2942Ter)	472	ATM	Pathogenic	1591314316	RCV000812165\|RCV001018378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225575	108225575	11:g.108225575C>T	-
NM_000051.4(ATM):c.8826G>C (p.Gln2942His)	472	ATM	Uncertain significance	2137351461	RCV002006586;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225577	108225577	108225577	-
NM_000051.4(ATM):c.8826G>A (p.Gln2942=)	472	ATM	Likely benign	-1	RCV002649392;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225577	108225577		-
NM_000051.4(ATM):c.8833_8834del (p.Leu2945fs)	472	ATM	Pathogenic	786203030	RCV000166157\|RCV000486575\|RCV000699426\|RCV003468775;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108225582	108225583	11:g.108225582_108225583del	ClinGen:CA195135	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8831C>T (p.Thr2944Ile)	472	ATM	Uncertain significance	1555143562	RCV000628039\|RCV001185807;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225582	108225582	NC_000011.9:g.108225582C>T	ClinGen:CA382526003	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8833C>G (p.Leu2945Val)	472	ATM	Uncertain significance	786203505	RCV000166839\|RCV000703009;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225584	108225584	11:g.108225584C>G	ClinGen:CA196843	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8833C>T (p.Leu2945=)	472	ATM	Likely benign	786203505	RCV000220630\|RCV000438007\|RCV002054965;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225584	108225584		ClinGen:CA10579322	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8835_8836del (p.Leu2946fs)	472	ATM	Pathogenic/Likely pathogenic	786202547	RCV000165407\|RCV000627925\|RCV001294056\|RCV002272148;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MedGen:C3661900	11	108225585	108225586	11:g.108225585_108225586del	ClinGen:CA193313	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8837T>C (p.Leu2946Ser)	472	ATM	Uncertain significance	2137352720	RCV001973708\|RCV003303544;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225588	108225588	108225588	-
NM_000051.4(ATM):c.8839A>T (p.Thr2947Ser)	472	ATM	Uncertain significance	760950400	RCV001211068\|RCV003163604;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225590	108225590	11:g.108225590A>T	-
NM_000051.4(ATM):c.8840C>A (p.Thr2947Asn)	472	ATM	Uncertain significance	1555143579	RCV000553526\|RCV000777171\|RCV001561452;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108225591	108225591	11:g.108225591C>A	ClinGen:CA382526055	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.9:g.(?_108225592)_(108229424_?)del	472	ATM	Pathogenic	-1	RCV001963222;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225592	108229424	-1	-
NM_000051.4(ATM):c.8841C>G (p.Thr2947=)	472	ATM	Likely benign	2137353155	RCV002144188\|RCV002373007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225592	108225592		-
NM_000051.4(ATM):c.8841C>T (p.Thr2947=)	472	ATM	Likely benign	-1	RCV002871257;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225592	108225592		-
NM_000051.4(ATM):c.8841_8842insTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCANNNNNNNN	472	ATM	Pathogenic	-1	RCV003022004;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225592	108225593	NC_000011.9:g.108225592_108225593insTTCATAAGTGAAGGAGAAATAAAATACTTTACAGACAAGCAAATGCTGAGAGATTTTGTCANNNNNNNNNNNNNAAAAAAAAAA	-
NM_000051.4(ATM):c.8842A>G (p.Ile2948Val)	472	ATM	Uncertain significance	1333760745	RCV000797431\|RCV001018389\|RCV002298776;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108225593	108225593	11:g.108225593A>G	-
NM_000051.4(ATM):c.8843T>C (p.Ile2948Thr)	472	ATM	Uncertain significance	876659516	RCV000221397\|RCV000709196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225594	108225594	11:g.108225594T>C	ClinGen:CA10579323	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8844T>C (p.Ile2948=)	472	ATM	Likely benign	878853551	RCV000233731\|RCV000580560\|RCV000604063;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108225595	108225595		ClinGen:CA10582863	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8844T>G (p.Ile2948Met)	472	ATM	Uncertain significance	878853551	RCV001937360;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225595	108225595	108225595	-
NM_000051.4(ATM):c.8845G>A (p.Val2949Ile)	472	ATM	Uncertain significance	587782497	RCV000131626\|RCV000485678\|RCV000695433;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225596	108225596	11:g.108225596G>A	ClinGen:CA168491	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8848_8850+3del	472	ATM	Uncertain significance	2137353827	RCV001361892;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225596	108225601	108225595	-
NM_000051.4(ATM):c.8846T>C (p.Val2949Ala)	472	ATM	Uncertain significance	2089701066	RCV001228439\|RCV002285460\|RCV002249817\|RCV002447145;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225597	108225597	11:g.108225597T>C	-
NM_000051.4(ATM):c.8846T>G (p.Val2949Gly)	472	ATM	Uncertain significance	-1	RCV003046274\|RCV003367957;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225597	108225597	NC_000011.9:g.108225597T>G	-
NM_000051.4(ATM):c.8847A>G (p.Val2949=)	472	ATM	Likely benign	876658820	RCV000217865\|RCV000874892\|RCV001288459;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108225598	108225598		ClinGen:CA10579324	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8848G>A (p.Glu2950Lys)	472	ATM	Uncertain significance	898091069	RCV000458546\|RCV000561505;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108225599	108225599	NC_000011.9:g.108225599G>A	ClinGen:CA16613459	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8848G>C (p.Glu2950Gln)	472	ATM	Uncertain significance	-1	RCV003031394;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225599	108225599	NC_000011.9:g.108225599G>C	-
NM_000051.4(ATM):c.8850+2T>G	472	ATM	Likely pathogenic	1555143623	RCV001062440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225603	108225603	11:g.108225603T>G	-
NM_000051.4(ATM):c.8850+5dup	472	ATM	Conflicting interpretations of pathogenicity	1400626849	RCV001524952\|RCV001872062\|RCV003155415;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108225603	108225604	108225603	-
NM_000051.4(ATM):c.8850+3A>G	472	ATM	Uncertain significance	769427492	RCV001018412\|RCV001043376;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225604	108225604	11:g.108225604A>G	-
NM_000051.4(ATM):c.8850+4A>C	472	ATM	Conflicting interpretations of pathogenicity	587782335	RCV000131263\|RCV000212091\|RCV000227772;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225605	108225605	11:g.108225605A>C	ClinGen:CA294337	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8850+4A>G	472	ATM	Uncertain significance	587782335	RCV000204471;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225605	108225605	11:g.108225605A>G	ClinGen:CA348695	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8850+5A>C	472	ATM	Conflicting interpretations of pathogenicity	1057522186	RCV000563960\|RCV000444695\|RCV001036665;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225606	108225606	11:g.108225606A>C	ClinGen:CA16606221	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8850+5A>T	472	ATM	Uncertain significance	1057522186	RCV000697047;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225606	108225606	11:g.108225606A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8850+5A>G	472	ATM	Uncertain significance	1057522186	RCV001176676\|RCV001875820;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225606	108225606	11:g.108225606A>G	-
NM_000051.4(ATM):c.8850+6G>A	472	ATM	Likely benign	2089704921	RCV001060951;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225607	108225607	11:g.108225607G>A	-
NM_000051.4(ATM):c.8850+6G>C	472	ATM	Uncertain significance	2089704921	RCV001060543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225607	108225607	11:g.108225607G>C	-
NM_000051.4(ATM):c.8850+7T>C	472	ATM	Likely benign	2137355586	RCV001443115;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225608	108225608	108225608	-
NM_000051.4(ATM):c.8850+12dup	472	ATM	Benign/Likely benign	1555143639	RCV000486135\|RCV000584397\|RCV001354633\|RCV001521238;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225609	108225610	11:g.108225609_108225610insT	ClinGen:CA16619267	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8850+9T>G	472	ATM	Likely benign	571828498	RCV001434597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225610	108225610	11:g.108225610T>G	-
NM_000051.4(ATM):c.8850+10T>C	472	ATM	Benign/Likely benign	762487236	RCV000465597\|RCV000579420\|RCV001193058\|RCV001643181\|RCV003316600;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108225611	108225611	NC_000011.9:g.108225611T>C	ClinGen:CA6266462	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8850+14T>C	472	ATM	Likely benign	1294857465	RCV000610210\|RCV001868079;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225615	108225615	11:g.108225615T>C	ClinGen:CA601699235	CN169374 not specified;
NM_000051.4(ATM):c.8850+17G>A	472	ATM	Likely benign	1027667991	RCV000424705\|RCV000580226\|RCV002061337;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225618	108225618	11:g.108225618G>A	ClinGen:CA16605843	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8850+17G>C	472	ATM	Uncertain significance	-1	RCV002847051;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225618	108225618	NC_000011.9:g.108225618G>C	-
NM_000051.4(ATM):c.8850+18G>A	472	ATM	Likely benign	969877924	RCV002152866;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225619	108225619	108225619	-
NM_000051.4(ATM):c.8850+20A>C	472	ATM	Likely benign	2137357318	RCV002085402;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108225621	108225621	108225621	-
NM_000051.4(ATM):c.8851-973A>C	472	ATM	Benign	170548	RCV000580841\|RCV001515287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108234836	108234836	NC_000011.9:g.108234836A>C	ClinGen:CA13428522	C0027672 Hereditary cancer-predisposing syndrome;
NC_000011.10:g.(?_108364109)_(108365528_?)del	472	ATM	Pathogenic	-1	RCV000817281;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108234836	108236255		-
NC_000011.10:g.(?_108364109)_(108365518_?)del	472	ATM	Pathogenic	-1	RCV000801981;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108234836	108236245		-
NC_000011.10:g.(?_108365010)_(108365542_?)del	472	ATM	Pathogenic	-1	RCV001031916;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235737	108236269	-1	-
NC_000011.9:g.(?_108235789)_(108236235_?)dup	472	ATM	Uncertain significance	-1	RCV003119183;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235789	108236235		-
NM_000051.4(ATM):c.8851-20C>T	472	ATM	Likely benign	-1	RCV003024864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235789	108235789	NC_000011.9:g.108235789C>T	-
NM_000051.4(ATM):c.8851-19A>G	472	ATM	Likely benign	772496794	RCV000772043\|RCV002061062;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235790	108235790	NC_000011.9:g.108235790A>G	-
NM_000051.4(ATM):c.8851-18T>C	472	ATM	Likely benign	-1	RCV003112774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235791	108235791	NC_000011.9:g.108235791T>C	-
NM_000051.4(ATM):c.8851-16T>C	472	ATM	Likely benign	1565607217	RCV000771493\|RCV002067224;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235793	108235793	NC_000011.9:g.108235793T>C	-
NM_000051.4(ATM):c.8851-15dup	472	ATM	Likely benign	1565607238	RCV000777054\|RCV002068528;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235793	108235794	NC_000011.9:g.108235794dup	-
NM_000051.4(ATM):c.8851-15G>A	472	ATM	Likely benign	1222455348	RCV002199704;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235794	108235794	108235794	-
NM_000051.4(ATM):c.8851-10_8851-7del	472	ATM	Conflicting interpretations of pathogenicity	1591384042	RCV000819880\|RCV001664440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108235796	108235799	11:g.108235796_108235799del	-
NM_000051.4(ATM):c.8851-10C>T	472	ATM	Likely benign	1057521676	RCV000628296\|RCV001177842\|RCV001720186;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108235799	108235799	11:g.108235799C>T	ClinGen:CA16606226	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108365072)_(108365518_?)del	472	ATM	Pathogenic	-1	RCV000707909;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235799	108236245		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NC_000011.10:g.(?_108365072)_(108365508_?)del	472	ATM	Pathogenic	-1	RCV001032822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235799	108236235	-1	-
NM_000051.4(ATM):c.8851-10C>G	472	ATM	Likely benign	1057521676	RCV001407035;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235799	108235799	108235799	-
NM_000051.4(ATM):c.8851-8C>T	472	ATM	Likely benign	768937303	RCV001411036;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235801	108235801	108235801	-
NC_000011.10:g.(?_108365076)_(108365514_?)del	472	ATM	Pathogenic	-1	RCV000539373;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235803	108236241		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8851-4_8852del	472	ATM	Likely pathogenic	2091196613	RCV001219676\|RCV003142172;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235803	108235808	11:g.108235803_108235808del	-
NM_000051.4(ATM):c.8851-6G>C	472	ATM	Likely benign	777096209	RCV001505221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235803	108235803	108235803	-
NM_000051.4(ATM):c.8851-3T>G	472	ATM	Conflicting interpretations of pathogenicity	748874219	RCV000222144\|RCV000399889\|RCV002281068;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108235806	108235806	11:g.108235806T>G	ClinGen:CA6266483	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8851-3T>C	472	ATM	Conflicting interpretations of pathogenicity	748874219	RCV001805266\|RCV001869532;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235806	108235806	108235806	-
NM_000051.4(ATM):c.8851-2A>G	472	ATM	Likely pathogenic	886039647	RCV000255950\|RCV002446500\|RCV002518767;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235807	108235807	11:g.108235807A>G	ClinGen:CA10588513	CN517202 not provided;
NM_000051.4(ATM):c.8851-1G>T	472	ATM	Pathogenic/Likely pathogenic	1057516537	RCV000410513\|RCV002488837\|RCV003463793;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235808	108235808	NC_000011.9:g.108235808G>T	ClinGen:CA16041431	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8851-1G>C	472	ATM	Uncertain significance	1057516537	RCV001899830;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235808	108235808	108235808	-
NC_000011.10:g.(?_108365082)_(108365508_?)del	472	ATM	Pathogenic	-1	RCV000228621;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235809	108236235		-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8851G>A (p.Val2951Ile)	472	ATM	Conflicting interpretations of pathogenicity	1555151205	RCV000529480\|RCV000566124\|RCV001570885;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108235809	108235809	11:g.108235809G>A	ClinGen:CA382529526	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8851G>T (p.Val2951Phe)	472	ATM	Uncertain significance	-1	RCV003040950;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235809	108235809	NC_000011.9:g.108235809G>T	-
NM_000051.4(ATM):c.8853C>G (p.Val2951=)	472	ATM	Likely benign	878853552	RCV000572700\|RCV001404987;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235811	108235811		ClinGen:CA10582864
GRCh37/hg19 11q22.3(chr11:108235811-108239828)x1	472	ATM	not provided	-1	RCV001535804;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0007254,MedGen:C0006142	11	108235811	108239828	-1	-
NM_000051.4(ATM):c.8854C>G (p.Leu2952Val)	472	ATM	Uncertain significance	1555151218	RCV000546516;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235812	108235812	NC_000011.9:g.108235812C>G	ClinGen:CA382529542	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8854C>A (p.Leu2952Ile)	472	ATM	Uncertain significance	-1	RCV002938446\|RCV003170608;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235812	108235812	NC_000011.9:g.108235812C>A	-
NM_000051.4(ATM):c.8855T>C (p.Leu2952Pro)	472	ATM	Uncertain significance	1591384283	RCV000800864;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235813	108235813	11:g.108235813T>C	-
NM_000051.4(ATM):c.8857_8858del (p.Leu2953fs)	472	ATM	Pathogenic	2091198449	RCV001066007;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235814	108235815	11:g.108235814_108235815del	-
NM_000051.4(ATM):c.8859A>G (p.Leu2953=)	472	ATM	Likely benign	773994431	RCV000628305\|RCV001018413\|RCV001401474;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235817	108235817		ClinGen:CA228383491	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8860T>C (p.Tyr2954His)	472	ATM	Uncertain significance	371619067	RCV000215430\|RCV000456818\|RCV000479457\|RCV001818537\|RCV003469058;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235818	108235818	11:g.108235818T>C	ClinGen:CA6266486	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8860T>A (p.Tyr2954Asn)	472	ATM	Uncertain significance	-1	RCV002304101;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235818	108235818	108235818	-
NM_000051.4(ATM):c.8863_8865del (p.Asp2955del)	472	ATM	Uncertain significance	587780644	RCV000122893;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235819	108235821	11:g.108235819_108235821del	ClinGen:CA332366	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8861A>G (p.Tyr2954Cys)	472	ATM	Uncertain significance	767507047	RCV000478426\|RCV000559487\|RCV000574016;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235819	108235819	11:g.108235819A>G	ClinGen:CA6266487	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8861_8877del (p.Tyr2954fs)	472	ATM	Pathogenic	2091199523	RCV001237475;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235819	108235835	11:g.108235819_108235835del	-
NM_000051.4(ATM):c.8865del (p.Pro2956fs)	472	ATM	Pathogenic	1591384391	RCV001018423\|RCV002551810;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235823	108235823	11:g.108235823_108235823del	-
NM_000051.4(ATM):c.8867C>T (p.Pro2956Leu)	472	ATM	Uncertain significance	1555151244	RCV000535534\|RCV001201233;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108235825	108235825	NC_000011.9:g.108235825C>T	ClinGen:CA382529600	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8868A>T (p.Pro2956=)	472	ATM	Likely benign	1157772894	RCV000584314\|RCV001504285\|RCV002307555;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108235826	108235826		ClinGen:CA476745186	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8868A>C (p.Pro2956=)	472	ATM	Likely benign	1157772894	RCV001192162\|RCV001506494;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235826	108235826		-
NM_000051.4(ATM):c.8871_8872del (p.Leu2957_Phe2958insTer)	472	ATM	Pathogenic/Likely pathogenic	2091200503	RCV001288460\|RCV001871714;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235827	108235828	108235826	-
NM_000051.4(ATM):c.8869C>G (p.Leu2957Val)	472	ATM	Uncertain significance	2137872203	RCV002005557\|RCV003234152;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108235827	108235827	108235827	-
NM_000051.4(ATM):c.8870T>G (p.Leu2957Arg)	472	ATM	Uncertain significance	1555151255	RCV000628048;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235828	108235828	NC_000011.9:g.108235828T>G	ClinGen:CA382529610	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8871C>G (p.Leu2957=)	472	ATM	Likely benign	1555151266	RCV001405599\|RCV002372640;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235829	108235829		-
NM_000051.4(ATM):c.8871C>T (p.Leu2957=)	472	ATM	Likely benign	-1	RCV003011098;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235829	108235829		-
NM_000051.4(ATM):c.8873_8874del (p.Leu2957_Phe2958insTer)	472	ATM	Pathogenic	864622669	RCV000206073\|RCV000568943\|RCV003155930;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235830	108235831	NC_000011.9:g.108235831_108235832del	ClinGen:CA350133	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8872T>C (p.Phe2958Leu)	472	ATM	Uncertain significance	-1	RCV003015868;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235830	108235830	NC_000011.9:g.108235830T>C	-
NM_000051.4(ATM):c.8876_8879del (p.Asp2959fs)	472	ATM	Pathogenic/Likely pathogenic	786204726	RCV000169561\|RCV000236349\|RCV000494628\|RCV002283463\|RCV003468847;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108235832	108235835	11:g.108235832_108235835del	ClinGen:CA274409	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8875G>T (p.Asp2959Tyr)	472	ATM	Uncertain significance	1400589510	RCV001068556\|RCV001593248\|RCV002374986;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235833	108235833	11:g.108235833G>T	-
NM_000051.4(ATM):c.8878T>C (p.Trp2960Arg)	472	ATM	Uncertain significance	1064794739	RCV000485350\|RCV000575947\|RCV001225211;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235836	108235836	11:g.108235836T>C	ClinGen:CA16619268	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8878T>A (p.Trp2960Arg)	472	ATM	Uncertain significance	1064794739	RCV001034873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235836	108235836	11:g.108235836T>A	-
NM_000051.4(ATM):c.8879G>A (p.Trp2960Ter)	472	ATM	Pathogenic	1131691149	RCV000494678\|RCV000552032\|RCV003470606;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235837	108235837	11:g.108235837G>A	ClinGen:CA382529659	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8880G>A (p.Trp2960Ter)	472	ATM	Pathogenic	1060501650	RCV000472679\|RCV000493966\|RCV001753883\|RCV003463886;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235838	108235838	NC_000011.9:g.108235838G>A	ClinGen:CA16613231	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8880G>C (p.Trp2960Cys)	472	ATM	Uncertain significance	1060501650	RCV001058926\|RCV002374942;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235838	108235838	11:g.108235838G>C	-
NM_000051.4(ATM):c.8880G>T (p.Trp2960Cys)	472	ATM	Uncertain significance	1060501650	RCV001992685;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235838	108235838	108235838	-
NM_000051.4(ATM):c.8881A>G (p.Thr2961Ala)	472	ATM	Uncertain significance	1565607505	RCV000697947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235839	108235839	11:g.108235839A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8883dup (p.Met2962fs)	472	ATM	Pathogenic	2137874352	RCV001388861;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235839	108235840	108235839	-
NM_000051.4(ATM):c.8882C>T (p.Thr2961Ile)	472	ATM	Uncertain significance	1591384581	RCV000817823;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235840	108235840	11:g.108235840C>T	-
NM_000051.4(ATM):c.8886G>A (p.Met2962Ile)	472	ATM	Uncertain significance	2137874845	RCV001943743;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235844	108235844	108235844	-
NM_000051.4(ATM):c.8889T>C (p.Asn2963=)	472	ATM	Likely benign	1476881353	RCV001448230;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235847	108235847		-
NM_000051.4(ATM):c.8889T>A (p.Asn2963Lys)	472	ATM	Uncertain significance	1476881353	RCV002045959\|RCV002372807;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235847	108235847	108235847	-
NM_000051.4(ATM):c.8891C>T (p.Pro2964Leu)	472	ATM	Uncertain significance	-1	RCV002376014\|RCV003100049;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235849	108235849	108235849	-
NM_000051.4(ATM):c.8893T>C (p.Leu2965=)	472	ATM	Likely benign	1060504287	RCV000988739\|RCV001018457\|RCV001354751;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	11	108235851	108235851		ClinGen:CA16613232	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8894T>G (p.Leu2965Trp)	472	ATM	Uncertain significance	1555151299	RCV000562401\|RCV000627879;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235852	108235852	11:g.108235852T>G	ClinGen:CA382529773	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8895G>C (p.Leu2965Phe)	472	ATM	Uncertain significance	200899512	RCV000115271\|RCV000212092\|RCV000463179\|RCV001194300\|RCV003460811;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235853	108235853	NC_000011.9:g.108235853G>C	ClinGen:CA287033	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8895G>T (p.Leu2965Phe)	472	ATM	Uncertain significance	200899512	RCV000476059\|RCV000571599\|RCV001575086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108235853	108235853	NC_000011.9:g.108235853G>T	ClinGen:CA16613237	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8902T>C (p.Leu2968=)	472	ATM	Likely benign	775313366	RCV000422697\|RCV000567646\|RCV001398344;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235860	108235860		ClinGen:CA6266489
NM_000051.4(ATM):c.8903T>A (p.Leu2968Ter)	472	ATM	Pathogenic	1555151315	RCV000543440;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235861	108235861	11:g.108235861T>A	ClinGen:CA382529828	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8905T>C (p.Tyr2969His)	472	ATM	Uncertain significance	1591384712	RCV001018487\|RCV001860912;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235863	108235863	11:g.108235863T>C	-
NM_000051.4(ATM):c.8906A>G (p.Tyr2969Cys)	472	ATM	Uncertain significance	376524155	RCV000214134\|RCV000521477\|RCV000627975\|RCV001201252;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108235864	108235864	11:g.108235864A>G	ClinGen:CA6266490	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8907T>G (p.Tyr2969Ter)	472	ATM	Likely pathogenic	-1	RCV003238160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235865	108235865		-
NM_000051.4(ATM):c.8911C>T (p.Gln2971Ter)	472	ATM	Pathogenic/Likely pathogenic	1565607653	RCV000706912\|RCV000773913\|RCV001258065\|RCV003460987;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3469522; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108235869	108235869	11:g.108235869C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8912A>G (p.Gln2971Arg)	472	ATM	Uncertain significance	1060501714	RCV000477530\|RCV001018509;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235870	108235870	NC_000011.9:g.108235870A>G	ClinGen:CA16613181	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8914C>T (p.Gln2972Ter)	472	ATM	Pathogenic	2137878257	RCV001948934;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235872	108235872	108235872	-
NM_000051.4(ATM):c.8915A>G (p.Gln2972Arg)	472	ATM	Uncertain significance	763773991	RCV000220773\|RCV000628147\|RCV001651080\|RCV003338465;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235873	108235873	11:g.108235873A>G	ClinGen:CA6266491	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8918G>T (p.Arg2973Met)	472	ATM	Uncertain significance	730881331	RCV000159667\|RCV000560399\|RCV003362703;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235876	108235876	NC_000011.9:g.108235876G>T	ClinGen:CA298096	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8918_8929delinsTGT (p.Arg2973_Glu2977delinsMetTer)	472	ATM	Pathogenic/Likely pathogenic	1064795675	RCV000481418\|RCV000820697;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235876	108235887	NC_000011.9:g.108235876_108235887delinsTGT	ClinGen:CA16619269	CN517202 not provided;
NM_000051.4(ATM):c.8919G>A (p.Arg2973=)	472	ATM	Likely benign	786203613	RCV000167003\|RCV000461137\|RCV000601533;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108235877	108235877		ClinGen:CA197245	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8919G>T (p.Arg2973Ser)	472	ATM	Uncertain significance	786203613	RCV001308480;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235877	108235877	108235877	-
NM_000051.4(ATM):c.8919G>C (p.Arg2973Ser)	472	ATM	Uncertain significance	786203613	RCV001906824\|RCV003471031;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235877	108235877	108235877	-
NM_000051.4(ATM):c.8920C>A (p.Pro2974Thr)	472	ATM	Uncertain significance	984616023	RCV000573252\|RCV001834820;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235878	108235878	NC_000011.9:g.108235878C>A	ClinGen:CA382529949	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8920C>T (p.Pro2974Ser)	472	ATM	Uncertain significance	984616023	RCV000628024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235878	108235878	NC_000011.9:g.108235878C>T	ClinGen:CA228383578	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8921_8922insTTC (p.Pro2974_Glu2975insSer)	472	ATM	Uncertain significance	2091207598	RCV001041370;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235878	108235879	11:g.108235878_108235879insCTT	-
NM_000051.4(ATM):c.8921C>T (p.Pro2974Leu)	472	ATM	Conflicting interpretations of pathogenicity	139379666	RCV000122894\|RCV000159668\|RCV000200970\|RCV000780903\|RCV001030606\|RCV001356215\|RCV001798400;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0007254,MedGen:C00061	11	108235879	108235879	NC_000011.9:g.108235879C>T	ClinGen:CA185963	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8921C>A (p.Pro2974Gln)	472	ATM	Uncertain significance	139379666	RCV001975487;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235879	108235879	108235879	-
NM_000051.4(ATM):c.8922G>A (p.Pro2974=)	472	ATM	Benign/Likely benign	527248759	RCV000159601\|RCV000212093\|RCV000232139;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235880	108235880		ClinGen:CA297979	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8923del (p.Glu2975fs)	472	ATM	Pathogenic	2137879945	RCV001382099;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235880	108235880	108235879	-
NM_000051.4(ATM):c.8925_8928dup (p.Glu2977delinsArgTer)	472	ATM	Pathogenic	1555151395	RCV000570327\|RCV002527970;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235882	108235883	11:g.108235882_108235883insAGAT	ClinGen:CA658656277	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8928T>C (p.Asp2976=)	472	ATM	Likely benign	786202343	RCV000165104\|RCV000429921\|RCV000928820;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235886	108235886		ClinGen:CA192528	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8933C>G (p.Thr2978Ser)	472	ATM	Uncertain significance	765446164	RCV001963422;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235891	108235891	108235891	-
NM_000051.4(ATM):c.8934T>C (p.Thr2978=)	472	ATM	Likely benign	1057521029	RCV000432209\|RCV000775903\|RCV001446449;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235892	108235892		ClinGen:CA16606859	CN169374 not specified;
NM_000051.4(ATM):c.8934_8935del (p.Glu2979fs)	472	ATM	Pathogenic	2137881586	RCV001963102\|RCV002370614\|RCV003464324;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235892	108235893	108235891	-
NM_000051.4(ATM):c.8934T>G (p.Thr2978=)	472	ATM	Likely benign	1057521029	RCV002088126;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235892	108235892		-
NM_000051.4(ATM):c.8937G>A (p.Glu2979=)	472	ATM	Likely benign	876658242	RCV000221493\|RCV000628293\|RCV000603939\|RCV000679150;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900	11	108235895	108235895		ClinGen:CA10579325	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8938C>A (p.Leu2980Ile)	472	ATM	Uncertain significance	786203721	RCV000167148\|RCV000537024;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235896	108235896	11:g.108235896C>A	ClinGen:CA197606	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8938C>G (p.Leu2980Val)	472	ATM	Uncertain significance	786203721	RCV000573019\|RCV001068134;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235896	108235896	11:g.108235896C>G	ClinGen:CA382530090	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8940T>G (p.Leu2980=)	472	ATM	Likely benign	576335919	RCV000219097\|RCV000920324\|RCV002225515;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108235898	108235898		ClinGen:CA10579326	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8941C>T (p.His2981Tyr)	472	ATM	Uncertain significance	1555151422	RCV000628021;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235899	108235899	NC_000011.9:g.108235899C>T	ClinGen:CA382530122	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8942A>G (p.His2981Arg)	472	ATM	Uncertain significance	750441954	RCV000167373\|RCV000225919\|RCV000486851\|RCV001543124;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235900	108235900	11:g.108235900A>G	ClinGen:CA198131	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8942del (p.His2981fs)	472	ATM	Pathogenic/Likely pathogenic	786203489	RCV000166811\|RCV000549516\|RCV003474881;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235900	108235900	11:g.108235900_108235900del	ClinGen:CA196786	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8945dup (p.Thr2983fs)	472	ATM	Pathogenic	2137882907	RCV002007410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235900	108235901	108235900	-
NM_000051.4(ATM):c.8943C>G (p.His2981Gln)	472	ATM	Uncertain significance	876660594	RCV000216994\|RCV001294916;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235901	108235901	11:g.108235901C>G	ClinGen:CA10579327	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8944C>T (p.Pro2982Ser)	472	ATM	Conflicting interpretations of pathogenicity	1485620194	RCV000773183\|RCV000822149\|RCV001585699;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108235902	108235902	NC_000011.9:g.108235902C>T	-
NM_000051.4(ATM):c.8947_8951dup (p.Asn2985fs)	472	ATM	Pathogenic/Likely pathogenic	2091211325	RCV001179889\|RCV001875954;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235902	108235903	11:g.108235902_108235903insCTACT	-
NM_000051.4(ATM):c.8944C>A (p.Pro2982Thr)	472	ATM	Uncertain significance	1485620194	RCV001204174;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235902	108235902	11:g.108235902C>A	-
NM_000051.4(ATM):c.8944C>G (p.Pro2982Ala)	472	ATM	Uncertain significance	-1	RCV002587762;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235902	108235902	NC_000011.9:g.108235902C>G	-
NM_000051.4(ATM):c.8946T>C (p.Pro2982=)	472	ATM	Likely benign	780572651	RCV001018520\|RCV001860914;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235904	108235904		-
NM_000051.4(ATM):c.8948C>T (p.Thr2983Ile)	472	ATM	Uncertain significance	1472935232	RCV001090201\|RCV001339157;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235906	108235906	11:g.108235906C>T	-
NM_000051.4(ATM):c.8948C>A (p.Thr2983Asn)	472	ATM	Uncertain significance	1472935232	RCV001180230\|RCV001875978;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235906	108235906	11:g.108235906C>A	-
NM_000051.4(ATM):c.8950C>A (p.Leu2984Met)	472	ATM	Uncertain significance	747445236	RCV000219819\|RCV000691686;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235908	108235908	11:g.108235908C>A	ClinGen:CA6266495	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8950C>G (p.Leu2984Val)	472	ATM	Uncertain significance	747445236	RCV001018528\|RCV001873309\|RCV002505545;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235908	108235908	11:g.108235908C>G	-
NM_000051.4(ATM):c.8950C>T (p.Leu2984=)	472	ATM	Likely benign	747445236	RCV001462383\|RCV003298804;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235908	108235908		-
NM_000051.4(ATM):c.8952G>C (p.Leu2984=)	472	ATM	Likely benign	2137884197	RCV001426378;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235910	108235910		-
NM_000051.4(ATM):c.8952G>T (p.Leu2984=)	472	ATM	Likely benign	2137884197	RCV002110344;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235910	108235910		-
NM_000051.4(ATM):c.8952G>A (p.Leu2984=)	472	ATM	Likely benign	2137884197	RCV002080556;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235910	108235910		-
NM_000051.4(ATM):c.8955T>C (p.Asn2985=)	472	ATM	Likely benign	755561691	RCV000477107\|RCV003278825;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235913	108235913		ClinGen:CA6266496
NM_000051.4(ATM):c.8955T>G (p.Asn2985Lys)	472	ATM	Uncertain significance	755561691	RCV000563643\|RCV000795328;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235913	108235913	NC_000011.9:g.108235913T>G	ClinGen:CA382530239	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8955T>A (p.Asn2985Lys)	472	ATM	Uncertain significance	755561691	RCV002050415\|RCV002466741;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108235913	108235913	108235913	-
NM_000051.4(ATM):c.8958A>C (p.Ala2986=)	472	ATM	Likely benign	863224567	RCV001417861;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235916	108235916		ClinGen:CA337983
NM_000051.4(ATM):c.8959G>C (p.Asp2987His)	472	ATM	Uncertain significance	863224582	RCV000198659\|RCV002444808\|RCV003468903;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235917	108235917	11:g.108235917G>C	ClinGen:CA338090	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr)	472	ATM	Uncertain significance	863224582	RCV000525512\|RCV000570783\|RCV001764521;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108235917	108235917	NC_000011.9:g.108235917G>T	ClinGen:CA382530262	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8960A>T (p.Asp2987Val)	472	ATM	Uncertain significance	-1	RCV002376234\|RCV003108065;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235918	108235918	108235918	-
NM_000051.4(ATM):c.8964C>T (p.Asp2988=)	472	ATM	Likely benign	969795398	RCV000424251\|RCV000537946\|RCV001018553;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235922	108235922		ClinGen:CA16606863	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu)	472	ATM	Uncertain significance	147695170	RCV000129371\|RCV000204504\|RCV000212094\|RCV001262814\|RCV001358613\|RCV002298476;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN16	11	108235923	108235923	11:g.108235923C>G	ClinGen:CA294038	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8965C>T (p.Gln2989Ter)	472	ATM	Pathogenic	147695170	RCV001049656\|RCV001184926\|RCV003141977;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108235923	108235923	11:g.108235923C>T	-
NM_000051.4(ATM):c.8966A>G (p.Gln2989Arg)	472	ATM	Uncertain significance	1555151490	RCV000627861\|RCV001018554;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235924	108235924	NC_000011.9:g.108235924A>G	ClinGen:CA382530332	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8967A>G (p.Gln2989=)	472	ATM	Likely benign	876659033	RCV000219288\|RCV002054974;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235925	108235925		ClinGen:CA10579328	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys)	472	ATM	Conflicting interpretations of pathogenicity	1800558	RCV000115272\|RCV000200530\|RCV000212095\|RCV001358118\|RCV002271407\|RCV003467036\|RCV003330438;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:22	11	108235926	108235926	NC_000011.9:g.108235926G>A	ClinGen:CA287036	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8968G>C (p.Glu2990Gln)	472	ATM	Uncertain significance	1800558	RCV002275832\|RCV003101564\|RCV003365723;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235926	108235926	108235926	-
NM_000051.4(ATM):c.8971T>C (p.Cys2991Arg)	472	ATM	Uncertain significance	1591385376	RCV001018578\|RCV001860917;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235929	108235929	11:g.108235929T>C	-
NM_000051.4(ATM):c.8972G>A (p.Cys2991Tyr)	472	ATM	Uncertain significance	1555151500	RCV000803827\|RCV002442680;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235930	108235930	11:g.108235930G>A	-
NM_000051.4(ATM):c.8973C>A (p.Cys2991Ter)	472	ATM	Pathogenic	2137886925	RCV001951011;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235931	108235931	108235931	-
NM_000051.4(ATM):c.8976del (p.Lys2992fs)	472	ATM	Pathogenic	2137887202	RCV001872360;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235932	108235932	108235931	-
NM_000051.4(ATM):c.8977C>T (p.Arg2993Ter)	472	ATM	Pathogenic/Likely pathogenic	770641163	RCV000165909\|RCV000169469\|RCV000414034\|RCV000416708\|RCV000515430\|RCV001265579\|RCV003462193;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900,O	11	108235935	108235935	11:g.108235935C>T	ClinGen:CA194505	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8977C>G (p.Arg2993Gly)	472	ATM	Uncertain significance	770641163	RCV001977158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235935	108235935	108235935	-
NM_000051.4(ATM):c.8978G>A (p.Arg2993Gln)	472	ATM	Uncertain significance	587778081	RCV000120168\|RCV000132063\|RCV000628199;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235936	108235936	11:g.108235936G>A	ClinGen:CA157201	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8979A>G (p.Arg2993=)	472	ATM	Likely benign	1042288533	RCV000548735\|RCV000575884;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235937	108235937		ClinGen:CA228383727	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8979A>C (p.Arg2993=)	472	ATM	Likely benign	1042288533	RCV001018580\|RCV001475137;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235937	108235937		-
NM_000051.4(ATM):c.8981A>C (p.Asn2994Thr)	472	ATM	Uncertain significance	2091216343	RCV001298270;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235939	108235939	108235939	-
NM_000051.4(ATM):c.8981A>G (p.Asn2994Ser)	472	ATM	Uncertain significance	2091216343	RCV002001564;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235939	108235939	108235939	-
NM_000051.4(ATM):c.8982T>A (p.Asn2994Lys)	472	ATM	Uncertain significance	2137888159	RCV001864002;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235940	108235940	108235940	-
NM_000051.4(ATM):c.8982T>C (p.Asn2994=)	472	ATM	Likely benign	2137888159	RCV002150178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235940	108235940		-
NM_000051.4(ATM):c.8983C>A (p.Leu2995Ile)	472	ATM	Uncertain significance	142322668	RCV000164264\|RCV000313650\|RCV000480659\|RCV001535473\|RCV002288730;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108235941	108235941	11:g.108235941C>A	ClinGen:CA190478	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8986dup (p.Ser2996fs)	472	ATM	Pathogenic	2137888813	RCV001999867;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235943	108235944	108235943	-
NM_000051.4(ATM):c.8985C>T (p.Leu2995=)	472	ATM	Likely benign	771675608	RCV002192755;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235943	108235943		-
NM_000051.4(ATM):c.8987G>A (p.Ser2996Asn)	472	ATM	Uncertain significance	1555151525	RCV000575481\|RCV000803307;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235945	108235945	NC_000011.9:g.108235945G>A	ClinGen:CA382530577	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8987G>C (p.Ser2996Thr)	472	ATM	Uncertain significance	-1	RCV002376268\|RCV003103547;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235945	108235945	108235945	-
NM_000051.4(ATM):c.8987+1G>A	472	ATM	Pathogenic	786203631	RCV002000167;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235946	108235946	108235946	-
NM_000051.4(ATM):c.8987+3_8987+35del	472	ATM	Uncertain significance	774188684	RCV000666474;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235947	108235979	11:g.108235947_108235979del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8987+3G>A	472	ATM	Conflicting interpretations of pathogenicity	56360226	RCV000163760\|RCV000233461\|RCV000318833\|RCV000725914\|RCV001357667;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0016248,MedGen:C5679802, Orphanet:213517	11	108235948	108235948	11:g.108235948G>A	ClinGen:CA189127	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8987+5G>C	472	ATM	Uncertain significance	876660570	RCV000220961\|RCV001245673;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235950	108235950	11:g.108235950G>C	ClinGen:CA10579329	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8987+8G>C	472	ATM	Likely benign	2137889967	RCV002207653;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235953	108235953	108235953	-
NM_000051.4(ATM):c.8987+9T>C	472	ATM	Likely benign	-1	RCV002839158;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235954	108235954	NC_000011.9:g.108235954T>C	-
NM_000051.4(ATM):c.8987+10A>G	472	ATM	Conflicting interpretations of pathogenicity	1060504308	RCV000464499\|RCV000588444\|RCV000776543;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108235955	108235955	NC_000011.9:g.108235955A>G	ClinGen:CA16613526	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8987+12T>C	472	ATM	Likely benign	-1	RCV002634103;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235957	108235957	NC_000011.9:g.108235957T>C	-
NM_000051.4(ATM):c.8987+13T>C	472	ATM	Likely benign	-1	RCV002796589;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235958	108235958	NC_000011.9:g.108235958T>C	-
NM_000051.4(ATM):c.8987+19A>G	472	ATM	Likely benign	1403885730	RCV002129259;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108235964	108235964	108235964	-
NM_000051.4(ATM):c.8988-17dup	472	ATM	Likely benign	2137900748	RCV002128336;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236032	108236033	108236032	-
NM_000051.4(ATM):c.8988-19T>C	472	ATM	Likely benign	2137900568	RCV002102202;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236033	108236033	108236033	-
NM_000051.4(ATM):c.8988-18_8988-17del	472	ATM	Likely benign	-1	RCV003093632;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236033	108236034	NC_000011.9:g.108236034_108236035del	-
NM_000051.4(ATM):c.8988-16G>A	472	ATM	Likely benign	-1	RCV002825316;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236036	108236036	NC_000011.9:g.108236036G>A	-
NM_000051.4(ATM):c.8988-15T>A	472	ATM	Uncertain significance	-1	RCV002614597;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236037	108236037	NC_000011.9:g.108236037T>A	-
NM_000051.4(ATM):c.8988-13T>G	472	ATM	Conflicting interpretations of pathogenicity	756571175	RCV001189479\|RCV002069074;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236039	108236039	11:g.108236039T>G	-
NM_000051.4(ATM):c.8988-10T>C	472	ATM	Likely benign	2137901897	RCV001478852;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236042	108236042	108236042	-
NM_000051.4(ATM):c.8988-8dup	472	ATM	Uncertain significance	1591386308	RCV000791500\|RCV001188932;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236043	108236044	11:g.108236043_108236044insG	-
NM_000051.4(ATM):c.8988-9T>C	472	ATM	Likely benign	2137902045	RCV002121048;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236043	108236043	108236043	-
NM_000051.4(ATM):c.8988-8G>A	472	ATM	Likely benign	1555151666	RCV000611906\|RCV001462443;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236044	108236044	11:g.108236044G>A	ClinGen:CA658797738	CN169374 not specified;
NM_000051.4(ATM):c.8988-6_8988-4del	472	ATM	Uncertain significance	767175242	RCV000471517;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236045	108236047	NC_000011.9:g.108236046_108236048del	ClinGen:CA6266513	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8988-7T>G	472	ATM	Conflicting interpretations of pathogenicity	1487809821	RCV000524743\|RCV001547522;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108236045	108236045	NC_000011.9:g.108236045T>G	ClinGen:CA658656279	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8988-7T>A	472	ATM	Uncertain significance	1487809821	RCV001185601\|RCV001207125;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236045	108236045	11:g.108236045T>A	-
NM_000051.4(ATM):c.8988-5C>T	472	ATM	Likely benign	1591386387	RCV000941312\|RCV001191072;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236047	108236047	11:g.108236047C>T	-
NM_000051.4(ATM):c.8988-3T>C	472	ATM	Uncertain significance	1565608600	RCV000701263\|RCV001192208;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236049	108236049	11:g.108236049T>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8988-2A>G	472	ATM	Pathogenic/Likely pathogenic	786202087	RCV000164726\|RCV000627859\|RCV001258066\|RCV003468720;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MedGen:C3469522\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108236050	108236050	11:g.108236050A>G	ClinGen:CA191650	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8988-2A>C	472	ATM	Likely pathogenic	786202087	RCV000668318;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236050	108236050	11:g.108236050A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8988-1G>C	472	ATM	Pathogenic	730881386	RCV000159756\|RCV000563949\|RCV000627869\|RCV002492633\|RCV003467238;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108236051	108236051	NC_000011.9:g.108236051G>C	ClinGen:CA298332	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8988-1G>A	472	ATM	Pathogenic/Likely pathogenic	730881386	RCV000203896\|RCV000440256\|RCV000570351\|RCV001171410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236051	108236051	NC_000011.9:g.108236051G>A	ClinGen:CA348186	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8988-1G>T	472	ATM	Likely pathogenic	730881386	RCV000809686;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236051	108236051	11:g.108236051G>T	-
NM_000051.4(ATM):c.8989G>A (p.Asp2997Asn)	472	ATM	Uncertain significance	2091232028	RCV001220211;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236053	108236053	11:g.108236053G>A	-
NM_000051.4(ATM):c.8990A>G (p.Asp2997Gly)	472	ATM	Uncertain significance	-1	RCV002722112;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236054	108236054	NC_000011.9:g.108236054A>G	-
NM_000051.4(ATM):c.8992A>G (p.Ile2998Val)	472	ATM	Uncertain significance	1565608692	RCV000776650\|RCV001055859;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236056	108236056	NC_000011.9:g.108236056A>G	-
NM_000051.4(ATM):c.8993T>C (p.Ile2998Thr)	472	ATM	Conflicting interpretations of pathogenicity	778670498	RCV000227223\|RCV000569551\|RCV000590595\|RCV002057232\|RCV003153520;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100; MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480,Or	11	108236057	108236057	NC_000011.9:g.108236057T>C	ClinGen:CA6266514	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8993T>A (p.Ile2998Asn)	472	ATM	Uncertain significance	778670498	RCV001342126;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236057	108236057	108236057	-
NM_000051.4(ATM):c.8996A>T (p.Asp2999Val)	472	ATM	Uncertain significance	1555151684	RCV000541734\|RCV001805144;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236060	108236060	NC_000011.9:g.108236060A>T	ClinGen:CA382530812	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8997C>T (p.Asp2999=)	472	ATM	Likely benign	-1	RCV003054289;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236061	108236061		-
NM_000051.4(ATM):c.8998C>T (p.Gln3000Ter)	472	ATM	Pathogenic/Likely pathogenic	587781698	RCV000129865\|RCV000576680;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236062	108236062	11:g.108236062C>T	ClinGen:CA165254	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.8998C>G (p.Gln3000Glu)	472	ATM	Uncertain significance	587781698	RCV000562834\|RCV000822423;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236062	108236062	NC_000011.9:g.108236062C>G	ClinGen:CA382530840	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9001_9002del (p.Ser3001fs)	472	ATM	Pathogenic	876660022	RCV000222939\|RCV000814547;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236063	108236064	NC_000011.9:g.108236063AG[1]	ClinGen:CA10579330	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8999A>G (p.Gln3000Arg)	472	ATM	Uncertain significance	2137905294	RCV002016769;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236063	108236063	108236063	-
NM_000051.4(ATM):c.9002G>C (p.Ser3001Thr)	472	ATM	Uncertain significance	587781413	RCV000129277\|RCV000815890;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236066	108236066	11:g.108236066G>C	ClinGen:CA164104	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9002G>A (p.Ser3001Asn)	472	ATM	Uncertain significance	587781413	RCV000217769\|RCV000555618\|RCV000994721\|RCV001193665\|RCV002478796;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C000	11	108236066	108236066	11:g.108236066G>A	ClinGen:CA10579331	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9005T>A (p.Phe3002Tyr)	472	ATM	Uncertain significance	1565608780	RCV000688990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236069	108236069	NC_000011.9:g.108236069T>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9006C>T (p.Phe3002=)	472	ATM	Benign/Likely benign	540172506	RCV000162612\|RCV000418356\|RCV000757011\|RCV001079828\|RCV001354402;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0007254,MedGen:C0006142	11	108236070	108236070		ClinGen:CA186560	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9006C>A (p.Phe3002Leu)	472	ATM	Uncertain significance	540172506	RCV000467643\|RCV002374773\|RCV003329282\|RCV003463883;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236070	108236070	NC_000011.9:g.108236070C>A	ClinGen:CA16613196	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9006C>G (p.Phe3002Leu)	472	ATM	Uncertain significance	540172506	RCV000570075\|RCV001312732;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236070	108236070	NC_000011.9:g.108236070C>G	ClinGen:CA382530924	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9007_9034del (p.Asn3003fs)	472	ATM	Pathogenic/Likely pathogenic	2137906600	RCV001542261\|RCV001692466\|RCV003106231;	N	MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236071	108236098	108236070	-
NM_000051.4(ATM):c.9007A>G (p.Asn3003Asp)	472	ATM	Uncertain significance	1137889	RCV001794728\|RCV002541274;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236071	108236071	108236071	-
NM_000051.4(ATM):c.9008A>G (p.Asn3003Ser)	472	ATM	Uncertain significance	144636562	RCV000159669\|RCV000221585\|RCV000531722;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236072	108236072	NC_000011.9:g.108236072A>G	ClinGen:CA298099	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9010A>G (p.Lys3004Glu)	472	ATM	Uncertain significance	1555151737	RCV000581034\|RCV001220014;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236074	108236074	NC_000011.9:g.108236074A>G	ClinGen:CA382530978	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9010A>T (p.Lys3004Ter)	472	ATM	Pathogenic	-1	RCV003312990;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236074	108236074		-
NM_000051.4(ATM):c.9012A>G (p.Lys3004=)	472	ATM	Likely benign	2137907131	RCV001443226;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236076	108236076		-
NM_000051.4(ATM):c.9013G>C (p.Val3005Leu)	472	ATM	Uncertain significance	1555151745	RCV001937376;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236077	108236077	108236077	-
NM_000051.4(ATM):c.9014T>C (p.Val3005Ala)	472	ATM	Uncertain significance	876659968	RCV000222608\|RCV000587373\|RCV001360171;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236078	108236078	11:g.108236078T>C	ClinGen:CA10579333	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9016G>A (p.Ala3006Thr)	472	ATM	Uncertain significance	876658767	RCV000564608\|RCV000809465;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236080	108236080	11:g.108236080G>A	ClinGen:CA382531040	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9017C>T (p.Ala3006Val)	472	ATM	Uncertain significance	1319582645	RCV001018657\|RCV002550842;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236081	108236081	11:g.108236081C>T	-
NM_000051.4(ATM):c.9018T>C (p.Ala3006=)	472	ATM	Likely benign	2091236849	RCV001191061\|RCV001447200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236082	108236082		-
NM_000051.4(ATM):c.9019_9021dup (p.Glu3007_Arg3008insGlu)	472	ATM	Uncertain significance	-1	RCV002876906;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236082	108236083	NC_000011.9:g.108236083_108236085dup	-
NM_000051.4(ATM):c.9019G>T (p.Glu3007Ter)	472	ATM	Pathogenic/Likely pathogenic	876660382	RCV000222768\|RCV000255661\|RCV000233073\|RCV001854694;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0006770,MONDO:MONDO:0005005,MedGen:C0279702, Orphanet:319276	11	108236083	108236083	11:g.108236083G>T	ClinGen:CA10579335	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9021dup (p.Arg3008fs)	472	ATM	Pathogenic/Likely pathogenic	876660235	RCV000220949\|RCV000237011\|RCV000552654\|RCV001823719;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236083	108236084	11:g.108236083_108236084insA	ClinGen:CA10579336	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9021A>C (p.Glu3007Asp)	472	ATM	Uncertain significance	1565608897	RCV000688968\|RCV001253737\|RCV002369847;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236085	108236085	11:g.108236085A>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys)	472	ATM	Pathogenic/Likely pathogenic	587782292	RCV000131173\|RCV000169274\|RCV000212096\|RCV003162585\|RCV003474775;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:00	11	108236086	108236086	11:g.108236086C>T	ClinGen:CA294307,UniProtKB:Q13315#VAR_010893	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9022C>G (p.Arg3008Gly)	472	ATM	Conflicting interpretations of pathogenicity	587782292	RCV000564180\|RCV001210907;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236086	108236086	11:g.108236086C>G	ClinGen:CA382531129	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9022C>A (p.Arg3008Ser)	472	ATM	Conflicting interpretations of pathogenicity	587782292	RCV001018666\|RCV001065223;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236086	108236086	11:g.108236086C>A	-
NM_000051.4(ATM):c.9023G>A (p.Arg3008His)	472	ATM	Pathogenic/Likely pathogenic	587781894	RCV000130230\|RCV000196159\|RCV000254719\|RCV002281955\|RCV003162582\|RCV003467134;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen	11	108236087	108236087	11:g.108236087G>A	ClinGen:CA165987,UniProtKB:Q13315#VAR_010894	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9023G>C (p.Arg3008Pro)	472	ATM	Conflicting interpretations of pathogenicity	587781894	RCV000699124\|RCV002369909;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236087	108236087	11:g.108236087G>C	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9023G>T (p.Arg3008Leu)	472	ATM	Conflicting interpretations of pathogenicity	587781894	RCV000994722\|RCV001858796\|RCV002372715;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236087	108236087	11:g.108236087G>T	-
NM_000051.4(ATM):c.9024T>C (p.Arg3008=)	472	ATM	Likely benign	876658179	RCV000219029\|RCV000444796\|RCV000628272;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236088	108236088		ClinGen:CA10579337	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9026T>G (p.Val3009Gly)	472	ATM	Uncertain significance	1565608934	RCV000698732;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236090	108236090	11:g.108236090T>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9027C>G (p.Val3009=)	472	ATM	Likely benign	1200351979	RCV000584213\|RCV000944616;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236091	108236091		ClinGen:CA476745178	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9029T>C (p.Leu3010Ser)	472	ATM	Uncertain significance	2137909752	RCV002034146\|RCV002372819;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236093	108236093	108236093	-
NM_000051.4(ATM):c.9031A>G (p.Met3011Val)	472	ATM	Uncertain significance	372795527	RCV000159670\|RCV000196967\|RCV000212097\|RCV000779780\|RCV003153436;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236095	108236095	NC_000011.9:g.108236095A>G	ClinGen:CA298102	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9031A>T (p.Met3011Leu)	472	ATM	Uncertain significance	372795527	RCV001018690\|RCV001348591;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236095	108236095	11:g.108236095A>T	-
NM_000051.4(ATM):c.9032T>G (p.Met3011Arg)	472	ATM	Uncertain significance	1555151804	RCV000573123\|RCV001212392;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236096	108236096	11:g.108236096T>G	ClinGen:CA382531207	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9032T>A (p.Met3011Lys)	472	ATM	Uncertain significance	1555151804	RCV001018691\|RCV001860920;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236096	108236096	11:g.108236096T>A	-
NM_000051.4(ATM):c.9032T>C (p.Met3011Thr)	472	ATM	Uncertain significance	1555151804	RCV001184152\|RCV001876129;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236096	108236096	11:g.108236096T>C	-
NM_000051.4(ATM):c.9037_9040del (p.Leu3013fs)	472	ATM	Pathogenic	1565609008	RCV000697795;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236101	108236104	NC_000011.9:g.108236101_108236104del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9039dup (p.Gln3014fs)	472	ATM	Pathogenic/Likely pathogenic	879253972	RCV000236149\|RCV001854855\|RCV002374389\|RCV003469181;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236102	108236103	NC_000011.9:g.108236103dup	ClinGen:CA10584379	CN517202 not provided;
NM_000051.4(ATM):c.9038T>C (p.Leu3013Pro)	472	ATM	Uncertain significance	-1	RCV002302367;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236102	108236102	108236102	-
NM_000051.4(ATM):c.9039A>G (p.Leu3013=)	472	ATM	Likely benign	876659127	RCV000219861\|RCV000980031\|RCV001582749;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108236103	108236103		ClinGen:CA10579338	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9040C>T (p.Gln3014Ter)	472	ATM	Pathogenic/Likely pathogenic	2137911487	RCV001805516\|RCV002542405;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236104	108236104	108236104	-
NM_000051.4(ATM):c.9040C>A (p.Gln3014Lys)	472	ATM	Uncertain significance	-1	RCV003034302;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236104	108236104	NC_000011.9:g.108236104C>A	-
NM_000051.4(ATM):c.9041A>G (p.Gln3014Arg)	472	ATM	Uncertain significance	1064793579	RCV000545669\|RCV000581605\|RCV000710684\|RCV001821391;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374	11	108236105	108236105	11:g.108236105A>G	ClinGen:CA16619270	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9042A>G (p.Gln3014=)	472	ATM	Likely benign	1060504291	RCV000460483\|RCV000573290;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236106	108236106		ClinGen:CA16613463	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9045_9052dup (p.Lys3018delinsArgAsnTer)	472	ATM	Pathogenic	1555151827	RCV000483174\|RCV002526640;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236106	108236107	NC_000011.9:g.108236109_108236116dup	ClinGen:CA16619271	CN517202 not provided;
NM_000051.4(ATM):c.9042A>T (p.Gln3014His)	472	ATM	Uncertain significance	1060504291	RCV000812668\|RCV003279093;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236106	108236106	11:g.108236106A>T	-
NM_000051.4(ATM):c.9043G>A (p.Glu3015Lys)	472	ATM	Uncertain significance	1591387120	RCV000796024\|RCV003166131;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236107	108236107	11:g.108236107G>A	-
NM_000051.4(ATM):c.9044A>G (p.Glu3015Gly)	472	ATM	Uncertain significance	1565609065	RCV000705102\|RCV001018716;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236108	108236108	NC_000011.9:g.108236108A>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9047_9057del (p.Lys3016fs)	472	ATM	Pathogenic/Likely pathogenic	587782847	RCV000132441\|RCV001211331\|RCV002251998\|RCV002498648\|RCV003467196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|M	11	108236109	108236119	11:g.108236109_108236119del	ClinGen:CA169859	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9045G>A (p.Glu3015=)	472	ATM	Conflicting interpretations of pathogenicity	786203336	RCV000166602\|RCV000459874\|RCV001704222;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108236109	108236109		ClinGen:CA196279	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9045G>C (p.Glu3015Asp)	472	ATM	Uncertain significance	786203336	RCV001896287;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236109	108236109	108236109	-
NM_000051.4(ATM):c.9046A>G (p.Lys3016Glu)	472	ATM	Uncertain significance	2091242377	RCV001208317;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236110	108236110	11:g.108236110A>G	-
NM_000051.4(ATM):c.9047A>C (p.Lys3016Thr)	472	ATM	Uncertain significance	2137912584	RCV001359393;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236111	108236111	108236111	-
NM_000051.4(ATM):c.9048A>G (p.Lys3016=)	472	ATM	Likely benign	553001467	RCV000462333\|RCV000441748\|RCV000561915;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236112	108236112		ClinGen:CA6266516
NM_000051.4(ATM):c.9049C>T (p.Leu3017=)	472	ATM	Conflicting interpretations of pathogenicity	876658991	RCV000223235\|RCV000479815\|RCV001084757;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236113	108236113		ClinGen:CA10579339	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9050T>C (p.Leu3017Pro)	472	ATM	Uncertain significance	786204218	RCV000168343\|RCV000220983;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236114	108236114	NC_000011.9:g.108236114T>C	ClinGen:CA334624	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9050_9051insTTCA (p.Lys3018fs)	472	ATM	Pathogenic	1555151854	RCV000558630;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236114	108236115	11:g.108236114_108236115insTTCA	ClinGen:CA658656281	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9050T>G (p.Leu3017Arg)	472	ATM	Uncertain significance	786204218	RCV002041284;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236114	108236114	108236114	-
NM_000051.4(ATM):c.9051G>C (p.Leu3017=)	472	ATM	Likely benign	1467393169	RCV001407061;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236115	108236115		-
NM_000051.4(ATM):c.9051G>A (p.Leu3017=)	472	ATM	Likely benign	1467393169	RCV001443667\|RCV002377726;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236115	108236115		-
NM_000051.4(ATM):c.9052A>G (p.Lys3018Glu)	472	ATM	Uncertain significance	2091243577	RCV001324774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236116	108236116	108236116	-
NM_000051.4(ATM):c.9052A>C (p.Lys3018Gln)	472	ATM	Uncertain significance	-1	RCV002663821;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236116	108236116	NC_000011.9:g.108236116A>C	-
NM_000051.4(ATM):c.9058G>T (p.Val3020Leu)	472	ATM	Uncertain significance	1386313592	RCV001018728\|RCV001860923;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236122	108236122	11:g.108236122G>T	-
NM_000051.4(ATM):c.9060G>T (p.Val3020=)	472	ATM	Likely benign	864622625	RCV000204336\|RCV000444216\|RCV000569078\|RCV003389763;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	11	108236124	108236124		ClinGen:CA348586
NM_000051.4(ATM):c.9060G>A (p.Val3020=)	472	ATM	Likely benign	864622625	RCV001443221;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236124	108236124		-
NM_000051.4(ATM):c.9061del (p.Glu3021fs)	472	ATM	Pathogenic	2137914537	RCV001926657;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236124	108236124	108236123	-
NM_000051.4(ATM):c.9061G>T (p.Glu3021Ter)	472	ATM	Pathogenic	2091244384	RCV001221353;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236125	108236125	11:g.108236125G>T	-
NM_000051.4(ATM):c.9064dup (p.Glu3022fs)	472	ATM	Pathogenic/Likely pathogenic	1057516282	RCV000409037\|RCV000567742;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236127	108236128	NC_000011.9:g.108236128dup	ClinGen:CA16041432	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9063A>G (p.Glu3021=)	472	ATM	Likely benign	1555151874	RCV000628310\|RCV001565692\|RCV003302967;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236127	108236127		ClinGen:CA476745205
NM_000051.4(ATM):c.9067G>A (p.Gly3023Ser)	472	ATM	Uncertain significance	879253964	RCV000236052\|RCV001857801\|RCV002374388;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236131	108236131	NC_000011.9:g.108236131G>A	ClinGen:CA10584380	CN169374 not specified;
NM_000051.4(ATM):c.9068G>A (p.Gly3023Asp)	472	ATM	Uncertain significance	769548726	RCV000227967\|RCV001018769\|RCV001797688;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108236132	108236132	NC_000011.9:g.108236132G>A	ClinGen:CA6266517	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9068G>T (p.Gly3023Val)	472	ATM	Uncertain significance	769548726	RCV000458812;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236132	108236132	NC_000011.9:g.108236132G>T	ClinGen:CA16613527	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9070_*53del (p.Thr3024fs)	472	ATM	Pathogenic	2137915972	RCV001383966;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236132	108236286	108236131	-
NM_000051.4(ATM):c.9070A>C (p.Thr3024Pro)	472	ATM	Uncertain significance	587781630	RCV000129735\|RCV000230735\|RCV001578023\|RCV002478390;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900	11	108236134	108236134	11:g.108236134A>C	ClinGen:CA164993	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9071C>T (p.Thr3024Ile)	472	ATM	Uncertain significance	786203183	RCV000166387\|RCV000481586\|RCV001053518;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236135	108236135	11:g.108236135C>T	ClinGen:CA195730	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9071C>G (p.Thr3024Ser)	472	ATM	Uncertain significance	786203183	RCV001909553;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236135	108236135	108236135	-
NM_000051.4(ATM):c.9072T>G (p.Thr3024=)	472	ATM	Likely benign	1308894113	RCV000534678\|RCV000582997;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236136	108236136		ClinGen:CA476745215	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9073dup (p.Val3025fs)	472	ATM	Pathogenic/Likely pathogenic	2137916728	RCV002007312\|RCV003471119;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236136	108236137	108236136	-
NM_000051.4(ATM):c.9073G>A (p.Val3025Met)	472	ATM	Uncertain significance	1555151925	RCV000563352\|RCV000627949\|RCV002223875;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108236137	108236137	NC_000011.9:g.108236137G>A	ClinGen:CA382531702	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9073del (p.Val3025fs)	472	ATM	Pathogenic	1555151928	RCV000628091;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236137	108236137	11:g.108236137_108236137del	ClinGen:CA658797746	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9074T>C (p.Val3025Ala)	472	ATM	Uncertain significance	2137916904	RCV001988771\|RCV003303587;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236138	108236138	108236138	-
NM_000051.4(ATM):c.9076C>T (p.Leu3026Phe)	472	ATM	Uncertain significance	-1	RCV003043107;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236140	108236140	NC_000011.9:g.108236140C>T	-
NM_000051.4(ATM):c.9077T>G (p.Leu3026Arg)	472	ATM	Uncertain significance	1565609286	RCV000708661\|RCV001326791\|RCV002285405;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108236141	108236141	11:g.108236141T>G	-	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9077T>A (p.Leu3026His)	472	ATM	Uncertain significance	1565609286	RCV001991747;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236141	108236141	108236141	-
NM_000051.4(ATM):c.9079dup (p.Ser3027fs)	472	ATM	Pathogenic/Likely pathogenic	587780645	RCV000122895\|RCV000220797\|RCV000479629\|RCV003137635;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236142	108236143	NC_000011.9:g.108236143dup	ClinGen:CA332369	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9078C>T (p.Leu3026=)	472	ATM	Likely benign	901284125	RCV001500739\|RCV002449327;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236142	108236142		-
NM_000051.4(ATM):c.9078C>G (p.Leu3026=)	472	ATM	Likely benign	901284125	RCV002190214\|RCV003161385;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236142	108236142		-
NM_000051.4(ATM):c.9079A>C (p.Ser3027Arg)	472	ATM	Uncertain significance	763152094	RCV000547140\|RCV001185478;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236143	108236143	11:g.108236143A>C	ClinGen:CA382531756	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9079A>G (p.Ser3027Gly)	472	ATM	Uncertain significance	763152094	RCV000772044\|RCV001856008;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236143	108236143	NC_000011.9:g.108236143A>G	-
NM_000051.4(ATM):c.9080G>C (p.Ser3027Thr)	472	ATM	Uncertain significance	1565609342	RCV000777358\|RCV000793964;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236144	108236144	NC_000011.9:g.108236144G>C	-
NM_000051.4(ATM):c.9080G>T (p.Ser3027Ile)	472	ATM	Uncertain significance	1565609342	RCV001230861\|RCV002447154\|RCV003469410;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236144	108236144	11:g.108236144G>T	-
NM_000051.4(ATM):c.9080G>A (p.Ser3027Asn)	472	ATM	Uncertain significance	1565609342	RCV001945533\|RCV003365568;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236144	108236144	108236144	-
NM_000051.4(ATM):c.9081T>C (p.Ser3027=)	472	ATM	Likely benign	2091248229	RCV001188479\|RCV001499853;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236145	108236145		-
NM_000051.4(ATM):c.9082G>A (p.Val3028Ile)	472	ATM	Uncertain significance	876660251	RCV000223029\|RCV001853623;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236146	108236146	11:g.108236146G>A	ClinGen:CA10579340	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9083T>C (p.Val3028Ala)	472	ATM	Uncertain significance	2137918557	RCV001885558;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236147	108236147	108236147	-
NM_000051.4(ATM):c.9084T>C (p.Val3028=)	472	ATM	Likely benign	786203210	RCV000166422\|RCV001447621\|RCV001193063;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108236148	108236148		ClinGen:CA195833
NM_000051.4(ATM):c.9084TGG[1] (p.Gly3030del)	472	ATM	Uncertain significance	1591387676	RCV000807957;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236148	108236150	11:g.108236148_108236150del	-
NM_000051.4(ATM):c.9086_9096del (p.Gly3029fs)	472	ATM	Pathogenic	2137919004	RCV001939624\|RCV002442947;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236148	108236158	108236147	-
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp)	472	ATM	Conflicting interpretations of pathogenicity	201199629	RCV000115274\|RCV000198158\|RCV000212098\|RCV000780893\|RCV001374551\|RCV001535462\|RCV002288591;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0008840,MedGen:C00041	11	108236150	108236150	NC_000011.9:g.108236150G>A	ClinGen:CA287042	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9086G>T (p.Gly3029Val)	472	ATM	Uncertain significance	201199629	RCV000478842\|RCV000559547\|RCV003320469;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108236150	108236150	11:g.108236150G>T	ClinGen:CA6266519	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9087T>G (p.Gly3029=)	472	ATM	Likely benign	759675675	RCV000431145\|RCV001457542\|RCV002446674;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236151	108236151		ClinGen:CA6266520	CN169374 not specified;
NM_000051.4(ATM):c.9088G>A (p.Gly3030Arg)	472	ATM	Uncertain significance	879254215	RCV000237051\|RCV000802905\|RCV001018820;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236152	108236152	NC_000011.9:g.108236152G>A	ClinGen:CA10584381	CN169374 not specified;
NM_000051.4(ATM):c.9088G>C (p.Gly3030Arg)	472	ATM	Uncertain significance	879254215	RCV000473519\|RCV002374774;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236152	108236152	NC_000011.9:g.108236152G>C	ClinGen:CA16613465	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9089G>A (p.Gly3030Glu)	472	ATM	Uncertain significance	876658529	RCV000223415\|RCV000627934;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236153	108236153	11:g.108236153G>A	ClinGen:CA10579341	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9089G>T (p.Gly3030Val)	472	ATM	Uncertain significance	876658529	RCV000685535\|RCV001018822;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236153	108236153	11:g.108236153G>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9091C>T (p.Gln3031Ter)	472	ATM	Pathogenic/Likely pathogenic	2091249987	RCV001179145\|RCV001247349\|RCV001192363;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236155	108236155	11:g.108236155C>T	-
NM_000051.4(ATM):c.9091del (p.Gln3031fs)	472	ATM	Pathogenic	2091250180	RCV001214829\|RCV002375179;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236155	108236155	11:g.108236155_108236155del	-
NM_000051.4(ATM):c.9092_9098delinsT (p.Gln3031_Asn3033delinsLeu)	472	ATM	Uncertain significance	1555151979	RCV000627933\|RCV001018827;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236156	108236162	NC_000011.9:g.108236156_108236162delinsT	ClinGen:CA658797747	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9095_9121del (p.Val3032_Ile3040del)	472	ATM	Uncertain significance	2091250755	RCV001207627;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236157	108236183	11:g.108236157_108236183del	-
NM_000051.4(ATM):c.9094G>C (p.Val3032Leu)	472	ATM	Uncertain significance	587779877	RCV000115275\|RCV000533885\|RCV001018829;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236158	108236158	NC_000011.9:g.108236158G>C	ClinGen:CA287045	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9094G>A (p.Val3032Met)	472	ATM	Uncertain significance	587779877	RCV000464570\|RCV002446804;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236158	108236158	NC_000011.9:g.108236158G>A	ClinGen:CA16613205	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9096G>A (p.Val3032=)	472	ATM	Likely benign	1565609478	RCV000772975\|RCV001484748;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236160	108236160		-
NM_000051.4(ATM):c.9098A>G (p.Asn3033Ser)	472	ATM	Uncertain significance	1555151991	RCV000584462\|RCV001223819;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236162	108236162	11:g.108236162A>G	ClinGen:CA382531923	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9100T>C (p.Leu3034=)	472	ATM	Likely benign	2091251592	RCV001192048\|RCV001474455;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236164	108236164		-
NM_000051.4(ATM):c.9101T>G (p.Leu3034Trp)	472	ATM	Uncertain significance	1555151992	RCV000571374\|RCV000628145;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236165	108236165	NC_000011.9:g.108236165T>G	ClinGen:CA382531946	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9103C>T (p.Leu3035Phe)	472	ATM	Uncertain significance	866769874	RCV000214284\|RCV000984492;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236167	108236167	11:g.108236167C>T	ClinGen:CA10579342	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9103C>G (p.Leu3035Val)	472	ATM	Uncertain significance	866769874	RCV001876824\|RCV002370374;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236167	108236167	108236167	-
NM_000051.4(ATM):c.9104T>A (p.Leu3035His)	472	ATM	Uncertain significance	1272213516	RCV002045015;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236168	108236168	108236168	-
NM_000051.4(ATM):c.9105C>T (p.Leu3035=)	472	ATM	Likely benign	-1	RCV002847579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236169	108236169		-
NM_000051.4(ATM):c.9106A>G (p.Ile3036Val)	472	ATM	Uncertain significance	1565609567	RCV000773823\|RCV001303962\|RCV001766606;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108236170	108236170	NC_000011.9:g.108236170A>G	-
NM_000051.4(ATM):c.9108A>C (p.Ile3036=)	472	ATM	Likely benign	-1	RCV002867028;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236172	108236172		-
NM_000051.4(ATM):c.9109C>T (p.Gln3037Ter)	472	ATM	Likely pathogenic	1555152009	RCV000673513\|RCV003332224;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108236173	108236173	11:g.108236173C>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9111G>T (p.Gln3037His)	472	ATM	Uncertain significance	1555152012	RCV000550908;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236175	108236175	NC_000011.9:g.108236175G>T	ClinGen:CA382531985	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9112del (p.Gln3038fs)	472	ATM	Pathogenic/Likely pathogenic	587779878	RCV000115276\|RCV002515794\|RCV003467037;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236176	108236176	NC_000011.9:g.108236176del	ClinGen:CA287048	CN517202 not provided;
NM_000051.4(ATM):c.9112C>A (p.Gln3038Lys)	472	ATM	Likely benign	1591387978	RCV000988740;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236176	108236176	11:g.108236176C>A	-
NM_000051.4(ATM):c.9112C>T (p.Gln3038Ter)	472	ATM	Pathogenic/Likely pathogenic	1591387978	RCV001050551\|RCV003160395\|RCV003160394\|RCV003332289;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0012126,MONDO:MONDO:0001056,MeSH:D013274,MedGen:C0024623,OMIM:613659\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0001187,MedGen:C00	11	108236176	108236176	11:g.108236176C>T	-
NM_000051.4(ATM):c.9113A>T (p.Gln3038Leu)	472	ATM	Uncertain significance	1131691391	RCV000493305\|RCV000579589\|RCV000796816\|RCV003470612;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236177	108236177	11:g.108236177A>T	ClinGen:CA382531997	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9114G>C (p.Gln3038His)	472	ATM	Uncertain significance	2091254206	RCV001316279\|RCV002375404;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236178	108236178	108236178	-
NM_000051.4(ATM):c.9115G>C (p.Ala3039Pro)	472	ATM	Uncertain significance	-1	RCV002298352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236179	108236179	108236179	-
NM_000051.4(ATM):c.9117C>T (p.Ala3039=)	472	ATM	Likely benign	1289926943	RCV000772408\|RCV001458852;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236181	108236181		-
NM_000051.4(ATM):c.9119T>C (p.Ile3040Thr)	472	ATM	Uncertain significance	369870357	RCV000167036\|RCV000526903\|RCV003156228;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108236183	108236183	11:g.108236183T>C	ClinGen:CA197338	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9125C>T (p.Pro3042Leu)	472	ATM	Uncertain significance	2137925225	RCV001373023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236189	108236189	108236189	-
NM_000051.4(ATM):c.9131dup (p.Asn3044fs)	472	ATM	Pathogenic	1591388094	RCV000822681;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236190	108236191	11:g.108236190_108236191insA	-
NM_000051.4(ATM):c.9127_9128insGCCGACTTTTCCCAGGATGGGA (p.Lys3043fs)	472	ATM	Pathogenic	2137925596	RCV001381970;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236190	108236191	108236190	-
NM_000051.4(ATM):c.9131del (p.Asn3044fs)	472	ATM	Pathogenic	1591388094	RCV001942121;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236191	108236191	108236190	-
NM_000051.4(ATM):c.9128A>G (p.Lys3043Arg)	472	ATM	Uncertain significance	867893961	RCV000237056\|RCV000534818\|RCV000573858\|RCV001798745;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN221562	11	108236192	108236192	NC_000011.9:g.108236192A>G	ClinGen:CA10584382	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9132_9135dup (p.Arg3047fs)	472	ATM	Likely pathogenic	2137926139	RCV002048901;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236195	108236196	108236195	-
NM_000051.4(ATM):c.9133C>T (p.Leu3045Phe)	472	ATM	Uncertain significance	1555152033	RCV000503059\|RCV001525982\|RCV001865600;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236197	108236197	NC_000011.9:g.108236197C>T	ClinGen:CA382532084	CN169374 not specified;
NM_000051.4(ATM):c.9133C>G (p.Leu3045Val)	472	ATM	Uncertain significance	1555152033	RCV000686751;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236197	108236197	11:g.108236197C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9135C>T (p.Leu3045=)	472	ATM	Likely benign	2137926498	RCV001466116\|RCV002377789\|RCV002465876\|RCV003394066;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	11	108236199	108236199		-
NM_000051.4(ATM):c.9136A>G (p.Ser3046Gly)	472	ATM	Uncertain significance	1555152041	RCV000569469\|RCV002526766;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236200	108236200	NC_000011.9:g.108236200A>G	ClinGen:CA382532092	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9138C>G (p.Ser3046Arg)	472	ATM	Uncertain significance	1591388202	RCV001065248;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236202	108236202	11:g.108236202C>G	-
NM_000051.4(ATM):c.9139C>T (p.Arg3047Ter)	472	ATM	Pathogenic	121434219	RCV000003168\|RCV000199061\|RCV000485169\|RCV000493958\|RCV002221466\|RCV002476914\|RCV003332073;	N	MedGen:C4017102\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535\|MONDO:MONDO:0008840,MedGen:C000	11	108236203	108236203	11:g.108236203C>T	ClinGen:CA115937,OMIM:607585.0012	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9140G>A (p.Arg3047Gln)	472	ATM	Uncertain significance	1047129530	RCV000570889\|RCV001060352;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236204	108236204	NC_000011.9:g.108236204G>A	ClinGen:CA228384106	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9140G>T (p.Arg3047Leu)	472	ATM	Uncertain significance	-1	RCV002378775\|RCV003100102;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236204	108236204	108236204	-
NM_000051.4(ATM):c.9142C>G (p.Leu3048Val)	472	ATM	Uncertain significance	876660534	RCV000220937\|RCV000474748\|RCV000485982\|RCV001818539\|RCV003469082;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236206	108236206	11:g.108236206C>G	ClinGen:CA10579343	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9145_9146del (p.Phe3049fs)	472	ATM	Conflicting interpretations of pathogenicity	1555152058	RCV000628183\|RCV001189989\|RCV003465377;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236207	108236208	NC_000011.9:g.108236209_108236210del	ClinGen:CA658797748	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9146del (p.Phe3049fs)	472	ATM	Likely pathogenic	1555152058	RCV000709197;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236207	108236207	11:g.108236207_108236207del	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9144T>A (p.Leu3048=)	472	ATM	Likely benign	2137927802	RCV001456690\|RCV002377764;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236208	108236208		-
NM_000051.4(ATM):c.9144T>C (p.Leu3048=)	472	ATM	Likely benign	2137927802	RCV002090683\|RCV002372892;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236208	108236208		-
NM_000051.4(ATM):c.9147C>A (p.Phe3049Leu)	472	ATM	Uncertain significance	2091258043	RCV001210397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236211	108236211	11:g.108236211C>A	-
NM_000051.4(ATM):c.9148C>T (p.Pro3050Ser)	472	ATM	Uncertain significance	2137928327	RCV001955895\|RCV003303476;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236212	108236212	108236212	-
NM_000051.4(ATM):c.9149C>T (p.Pro3050Leu)	472	ATM	Uncertain significance	778267979	RCV000482676\|RCV000628141\|RCV001189480\|RCV002222520;	N	MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	11	108236213	108236213	11:g.108236213C>T	ClinGen:CA6266522	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9150A>G (p.Pro3050=)	472	ATM	Likely benign	2137928625	RCV002190050;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236214	108236214		-
NM_000051.4(ATM):c.9152G>C (p.Gly3051Ala)	472	ATM	Uncertain significance	1555152073	RCV000628161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236216	108236216	11:g.108236216G>C	ClinGen:CA382532151	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9152G>A (p.Gly3051Glu)	472	ATM	Uncertain significance	1555152073	RCV000811422\|RCV001262807;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|Human Phenotype Ontology:HP:0200063,MONDO:MONDO:0021392,MedGen:C0949059	11	108236216	108236216	11:g.108236216G>A	-
NM_000051.4(ATM):c.9152G>T (p.Gly3051Val)	472	ATM	Uncertain significance	1555152073	RCV002024633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236216	108236216	108236216	-
NM_000051.4(ATM):c.9153A>C (p.Gly3051=)	472	ATM	Likely benign	1555152080	RCV000561140\|RCV000603802\|RCV001448383;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236217	108236217		ClinGen:CA476745316
NM_000051.4(ATM):c.9154T>C (p.Trp3052Arg)	472	ATM	Uncertain significance	2091259011	RCV001295717;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236218	108236218	108236218	-
NM_000051.4(ATM):c.9155G>C (p.Trp3052Ser)	472	ATM	Uncertain significance	1591388369	RCV001018924\|RCV001057196;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236219	108236219	11:g.108236219G>C	-
NM_000051.4(ATM):c.9155G>A (p.Trp3052Ter)	472	ATM	Uncertain significance	-1	RCV003026356\|RCV003332397;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108236219	108236219	NC_000011.9:g.108236219G>A	-
NM_000051.4(ATM):c.9156G>A (p.Trp3052Ter)	472	ATM	Uncertain significance	587781711	RCV001219167\|RCV003332305;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980	11	108236220	108236220	11:g.108236220G>A	-
NM_000051.4(ATM):c.9157A>T (p.Lys3053Ter)	472	ATM	Uncertain significance	1555152104	RCV000672244\|RCV003465513;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236221	108236221	11:g.108236221A>T	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9157A>C (p.Lys3053Gln)	472	ATM	Uncertain significance	1555152104	RCV001018925\|RCV001860932;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236221	108236221	11:g.108236221A>C	-
NM_000051.4(ATM):c.9159A>G (p.Lys3053=)	472	ATM	Likely benign	1060504315	RCV000574000\|RCV000840928\|RCV001088246;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236223	108236223		ClinGen:CA16613528	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9160G>A (p.Ala3054Thr)	472	ATM	Uncertain significance	1565609869	RCV000685633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236224	108236224	11:g.108236224G>A	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9160G>C (p.Ala3054Pro)	472	ATM	Uncertain significance	1565609869	RCV001018935\|RCV001367031\|RCV003461376;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236224	108236224	11:g.108236224G>C	-
NM_000051.4(ATM):c.9160_9161delinsTA (p.Ala3054Tyr)	472	ATM	Uncertain significance	2137930126	RCV001948840;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236224	108236225	108236224	-
NM_000051.4(ATM):c.9161C>T (p.Ala3054Val)	472	ATM	Uncertain significance	1555152117	RCV000568477\|RCV001231165;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236225	108236225	NC_000011.9:g.108236225C>T	ClinGen:CA382532188	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.9161C>G (p.Ala3054Gly)	472	ATM	Uncertain significance	1555152117	RCV000689731\|RCV002369852;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236225	108236225	11:g.108236225C>G	-	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9161C>A (p.Ala3054Asp)	472	ATM	Uncertain significance	-1	RCV003079136\|RCV003475503;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236225	108236225	NC_000011.9:g.108236225C>A	-
NM_000051.4(ATM):c.9163T>G (p.Trp3055Gly)	472	ATM	Uncertain significance	-1	RCV002301416;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236227	108236227	108236227	-
NM_000051.4(ATM):c.9164G>C (p.Trp3055Ser)	472	ATM	Uncertain significance	2137930567	RCV001761444\|RCV002370290\|RCV002246477\|RCV002544117;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236228	108236228	108236228	-
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu)	472	ATM	Conflicting interpretations of pathogenicity	371767164	RCV000159672\|RCV000200661\|RCV000589071\|RCV003398820\|RCV003467224;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236230	108236230	NC_000011.9:g.108236230G>T	ClinGen:CA298108	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.9166G>C (p.Val3056Leu)	472	ATM	Uncertain significance	-1	RCV003025873;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236230	108236230	NC_000011.9:g.108236230G>C	-
NM_000051.4(ATM):c.9168G>A (p.Val3056=)	472	ATM	Likely benign	1591388522	RCV001018938\|RCV002068967\|RCV002298834;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374	11	108236232	108236232		-
NM_000051.4(ATM):c.9169T>C (p.Ter3057Arg)	472	ATM	Uncertain significance	2091262473	RCV001040394;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236233	108236233	11:g.108236233T>C	-
NM_000051.4(ATM):c.9169T>G (p.Ter3057Gly)	472	ATM	Conflicting interpretations of pathogenicity	2091262473	RCV001037761\|RCV001354458\|RCV003467713;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0002032,MedGen:C0699790\|MONDO:MONDO:0016419,MedGen:C0346153,OMIM:114480, Orphanet:227535	11	108236233	108236233	11:g.108236233T>G	-
NM_000051.4(ATM):c.9170G>C (p.Ter3057Ser)	472	ATM	Likely pathogenic	2091262802	RCV001349275\|RCV002447428;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	108236234	108236234	108236234	-
NM_000051.4(ATM):c.9171A>T (p.Ter3057Cys)	472	ATM	Uncertain significance	2091262986	RCV001297921;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236235	108236235	108236235	-
NM_000051.4(ATM):c.*29C>G	472	ATM	Benign/Likely benign	3218711	RCV000354437\|RCV001690001\|RCV002225578\|RCV002465614;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108236264	108236264	NC_000011.9:g.108236264C>G	ClinGen:CA6266528	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*44A>G	472	ATM	Benign/Likely benign	55900855	RCV000407882\|RCV001565357\|RCV002225579\|RCV003320465;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374	11	108236279	108236279	NC_000011.9:g.108236279A>G	ClinGen:CA6266531	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*222C>T	472	ATM	Uncertain significance	760852487	RCV000300869;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236457	108236457	NC_000011.9:g.108236457C>T	ClinGen:CA10637005	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*223G>A	472	ATM	Uncertain significance	536067082	RCV001104022;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236458	108236458	11:g.108236458G>A	-
NM_000051.4(ATM):c.*236C>T	472	ATM	Conflicting interpretations of pathogenicity	3092834	RCV000355715\|RCV001556529;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108236471	108236471	NC_000011.9:g.108236471C>T	ClinGen:CA10633321	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*238G>C	472	ATM	Uncertain significance	2091280654	RCV001104023;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236473	108236473	11:g.108236473G>C	-
NM_000051.4(ATM):c.*244G>A	472	ATM	Uncertain significance	1280155397	RCV001104024;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236479	108236479	11:g.108236479G>A	-
NM_000051.4(ATM):c.*306C>G	472	ATM	Uncertain significance	2091287759	RCV001104322;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236541	108236541	11:g.108236541C>G	-
NM_000051.4(ATM):c.*371A>G	472	ATM	Benign	3092835	RCV000265143;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236606	108236606	NC_000011.9:g.108236606A>G	ClinGen:CA10633322	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*509G>A	472	ATM	Uncertain significance	1329700897	RCV001104323;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236744	108236744	11:g.108236744G>A	-
NM_000051.4(ATM):c.*540dup	472	ATM	Uncertain significance	369583811	RCV000266760;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236756	108236757	NC_000011.9:g.108236775dup	ClinGen:CA10633324	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*521del	472	ATM	Uncertain significance	886047615	RCV000320819;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236756	108236756	NC_000011.9:g.108236756del	ClinGen:CA10637517	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*540del	472	ATM	Benign	369583811	RCV000361453;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236757	108236757	NC_000011.9:g.108236775del	ClinGen:CA10629787	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*534A>C	472	ATM	Uncertain significance	957324830	RCV001104324;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236769	108236769	11:g.108236769A>C	-
NM_000051.4(ATM):c.*537A>C	472	ATM	Uncertain significance	910689990	RCV001104325;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236772	108236772	11:g.108236772A>C	-
NM_000051.4(ATM):c.541_542del	472	ATM	Uncertain significance	886047618	RCV000326539;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236775	108236776	NC_000011.9:g.108236776_108236777del	ClinGen:CA10629788	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*540A>C	472	ATM	Uncertain significance	868594741	RCV001104326;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236775	108236775	11:g.108236775A>C	-
NM_000051.4(ATM):c.*541del	472	ATM	Uncertain significance	886047619	RCV000381074;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236776	108236776	NC_000011.9:g.108236776del	ClinGen:CA10629789	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*548G>T	472	ATM	Benign	227092	RCV000291267;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236783	108236783	NC_000011.9:g.108236783G>T	ClinGen:CA10637520	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*551T>C	472	ATM	Benign	143531724	RCV000327694;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236786	108236786	NC_000011.9:g.108236786T>C	ClinGen:CA10629790	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*605G>A	472	ATM	Uncertain significance	2091314734	RCV001107081;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236840	108236840	11:g.108236840G>A	-
NM_000051.4(ATM):c.*627A>G	472	ATM	Uncertain significance	1014149927	RCV001107082;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236862	108236862	11:g.108236862A>G	-
NM_000051.4(ATM):c.*684T>G	472	ATM	Benign	3092837	RCV000386831;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236919	108236919	NC_000011.9:g.108236919T>G	ClinGen:CA10637521	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*690T>C	472	ATM	Uncertain significance	751932227	RCV001107083;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236925	108236925	11:g.108236925T>C	-
NM_000051.4(ATM):c.*703G>A	472	ATM	Uncertain significance	118179262	RCV001107084;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236938	108236938	11:g.108236938G>A	-
NM_000051.4(ATM):c.*712A>G	472	ATM	Uncertain significance	966180034	RCV001107085;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108236947	108236947	11:g.108236947A>G	-
NM_000051.4(ATM):c.*779T>G	472	ATM	Likely benign	78327467	RCV001107086;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237014	108237014	11:g.108237014T>G	-
NM_000051.4(ATM):c.*795C>T	472	ATM	Uncertain significance	2091326775	RCV001107750;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237030	108237030	11:g.108237030C>T	-
NM_000051.4(ATM):c.*895dup	472	ATM	Uncertain significance	200629108	RCV000296388;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237123	108237124	NC_000011.9:g.108237130dup	ClinGen:CA10637523	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1204C>G	472	ATM	Uncertain significance	2091350922	RCV001107751;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237439	108237439	11:g.108237439C>G	-
NM_000051.4(ATM):c.*1272C>G	472	ATM	Uncertain significance	376572054	RCV000351352;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237507	108237507	NC_000011.9:g.108237507C>G	ClinGen:CA10637524	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1407G>A	472	ATM	Uncertain significance	2091360907	RCV001107752;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237642	108237642	11:g.108237642G>A	-
NM_000051.4(ATM):c.*1427T>C	472	ATM	Benign	3092836	RCV000373376;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237662	108237662	NC_000011.9:g.108237662T>C	ClinGen:CA10633326	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1431C>A	472	ATM	Uncertain significance	2091362279	RCV001107753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237666	108237666	11:g.108237666C>A	-
NM_000051.4(ATM):c.*1520C>T	472	ATM	Uncertain significance	112426029	RCV001107754;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237755	108237755	11:g.108237755C>T	-
NM_000051.4(ATM):c.*1571C>T	472	ATM	Uncertain significance	886047621	RCV000278633;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237806	108237806	NC_000011.9:g.108237806C>T	ClinGen:CA10629792	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1604C>T	472	ATM	Benign	227091	RCV000338616;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237839	108237839	NC_000011.9:g.108237839C>T	ClinGen:CA10637007	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1640C>T	472	ATM	Uncertain significance	886047622	RCV000400080;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237875	108237875	NC_000011.9:g.108237875C>T	ClinGen:CA10633328	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1641G>A	472	ATM	Uncertain significance	978143944	RCV001104106;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237876	108237876	11:g.108237876G>A	-
NM_000051.4(ATM):c.*1670G>A	472	ATM	Uncertain significance	886047623	RCV000303444;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108237905	108237905	NC_000011.9:g.108237905G>A	ClinGen:CA10633329	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1768C>T	472	ATM	Uncertain significance	551571814	RCV001104107;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238003	108238003	11:g.108238003C>T	-
NM_000051.4(ATM):c.*1799C>T	472	ATM	Benign	114847811	RCV001104108;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238034	108238034	11:g.108238034C>T	-
NM_000051.4(ATM):c.*1882C>G	472	ATM	Likely benign	80226715	RCV000339699;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238117	108238117	NC_000011.9:g.108238117C>G	ClinGen:CA10633332	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1960del	472	ATM	Uncertain significance	886047624	RCV000392386;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238195	108238195	NC_000011.9:g.108238195del	ClinGen:CA10637008	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*1974C>G	472	ATM	Likely benign	148781946	RCV001104417;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238209	108238209	11:g.108238209C>G	-
NM_000051.4(ATM):c.*2080C>T	472	ATM	Benign	142456486	RCV000304802;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238315	108238315	NC_000011.9:g.108238315C>T	ClinGen:CA10637013	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2153G>A	472	ATM	Uncertain significance	1021493177	RCV001104418;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238388	108238388	11:g.108238388G>A	-
NM_000051.4(ATM):c.*2199C>G	472	ATM	Benign	75959910	RCV000364230;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238434	108238434	11:g.108238434C>G	ClinGen:CA10637525	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2220A>G	472	ATM	Benign	75293772	RCV000269667;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238455	108238455	11:g.108238455A>G	ClinGen:CA10637015	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2224C>T	472	ATM	Likely benign	139245552	RCV000310753;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238459	108238459	11:g.108238459C>T	ClinGen:CA10637527	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2362T>C	472	ATM	Uncertain significance	185852664	RCV001104419;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238597	108238597	11:g.108238597T>C	-
NM_000051.4(ATM):c.*2479G>A	472	ATM	Uncertain significance	778439888	RCV000365432;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238714	108238714	11:g.108238714G>A	ClinGen:CA10637530	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.2541_2543del	472	ATM	Uncertain significance	886047625	RCV000274569;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238775	108238777	11:g.108238775_108238777del	ClinGen:CA10629793	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2563C>T	472	ATM	Likely benign	146547907	RCV000329595;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238798	108238798	11:g.108238798C>T	ClinGen:CA10637016	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2607T>C	472	ATM	Conflicting interpretations of pathogenicity	879796523	RCV000389888\|RCV002292514;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900	11	108238842	108238842	11:g.108238842T>C	ClinGen:CA10637025	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2714dup	472	ATM	Uncertain significance	532373195	RCV000276826;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238939	108238940	11:g.108238939_108238940insT	ClinGen:CA10629794	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2756T>C	472	ATM	Uncertain significance	754992709	RCV001107160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108238991	108238991	11:g.108238991T>C	-
NM_000051.4(ATM):c.*2779del	472	ATM	Uncertain significance	886047627	RCV000317809;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239014	108239014	11:g.108239014_108239014del	ClinGen:CA10633333	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2780C>T	472	ATM	Uncertain significance	1246719124	RCV001107161;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239015	108239015	11:g.108239015C>T	-
NM_000051.4(ATM):c.*2824G>A	472	ATM	Uncertain significance	2091439619	RCV001107162;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239059	108239059	11:g.108239059G>A	-
NM_000051.4(ATM):c.*2865G>A	472	ATM	Uncertain significance	568150944	RCV000372494;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239100	108239100	NC_000011.9:g.108239100G>A	ClinGen:CA10637027	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2866T>C	472	ATM	Uncertain significance	191399133	RCV000282520;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239101	108239101	NC_000011.9:g.108239101T>C	ClinGen:CA10629795	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2926T>C	472	ATM	Uncertain significance	2091445014	RCV001107163;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239161	108239161	11:g.108239161T>C	-
NM_000051.4(ATM):c.*2935C>G	472	ATM	Uncertain significance	886047628	RCV000337507;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239170	108239170	NC_000011.9:g.108239170C>G	ClinGen:CA10637028	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*2957G>C	472	ATM	Uncertain significance	770767475	RCV000378235;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239192	108239192	NC_000011.9:g.108239192G>C	ClinGen:CA10637029	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3022C>G	472	ATM	Uncertain significance	145076930	RCV000283724;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239257	108239257	NC_000011.9:g.108239257C>G	ClinGen:CA10637033	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3072C>T	472	ATM	Benign	3092844	RCV000343133;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239307	108239307	NC_000011.9:g.108239307C>T	ClinGen:CA10637037	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3091G>A	472	ATM	Uncertain significance	886047629	RCV000402015;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239326	108239326	NC_000011.9:g.108239326G>A	ClinGen:CA10629798	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3093C>T	472	ATM	Benign	79807288	RCV000308033;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239328	108239328	NC_000011.9:g.108239328C>T	ClinGen:CA10633335	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3136A>G	472	ATM	Uncertain significance	3092845	RCV000344178;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239371	108239371	NC_000011.9:g.108239371A>G	ClinGen:CA10629799	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3198T>G	472	ATM	Uncertain significance	764033869	RCV000407184;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239433	108239433	NC_000011.9:g.108239433T>G	ClinGen:CA10633336	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3204G>A	472	ATM	Uncertain significance	181377742	RCV001102577;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239439	108239439	11:g.108239439G>A	-
NM_000051.4(ATM):c.*3325A>G	472	ATM	Uncertain significance	886047630	RCV000309424;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239560	108239560	NC_000011.9:g.108239560A>G	ClinGen:CA10633337	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3354T>G	472	ATM	Uncertain significance	886047631	RCV000368676;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239589	108239589	NC_000011.9:g.108239589T>G	ClinGen:CA10629801	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3386T>A	472	ATM	Uncertain significance	754664818	RCV001102578;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239621	108239621	11:g.108239621T>A	-
NM_000051.4(ATM):c.*3393G>T	472	ATM	Benign	4585	RCV000274160;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239628	108239628	NC_000011.9:g.108239628G>T	ClinGen:CA10637038	C0004135 208900 Ataxia-telangiectasia syndrome;
NM_000051.4(ATM):c.*3413T>C	472	ATM	Benign	4987114	RCV001102579;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239648	108239648	11:g.108239648T>C	-
NM_000051.4(ATM):c.*3579T>G	472	ATM	Uncertain significance	912006598	RCV001102580;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108239814	108239814	11:g.108239814T>G	-
NM_000051.4(ATM):c.5793T>C (p.Ala1931=)	-1	ATM;C11orf65	Benign/Likely benign	3092910	RCV000116428\|RCV000119174\|RCV000123752\|RCV000416115\|RCV001355317\|RCV002225339\|RCV003315665;	N	MedGen:CN169374\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:1	11	108180917	108180917		ClinGen:CA151932
NM_000051.4(ATM):c.7629+13G>A	-1	ATM;C11orf65	Benign/Likely benign	563651647	RCV000581392\|RCV000613245\|RCV001357037\|RCV002061685;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0002032,MedGen:C0699790\|MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	11	108202297	108202297	11:g.108202297G>A	ClinGen:CA6266149	C0027672 Hereditary cancer-predisposing syndrome;
NM_000051.4(ATM):c.8671+104T>C	-1	ATM;C11orf65	Benign	227075	RCV001533656\|RCV001676032\|RCV003399332;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:C3661900\|MedGen:CN169374	11	108218196	108218196	108218196	-
NM_000051.4(ATM):c.8787-55C>T	-1	ATM;C11orf65	Benign	664982	RCV001533657\|RCV001692458\|RCV001692457\|RCV002225848;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108225483	108225483	108225483	-
NM_000051.4(ATM):c.8850+60A>G	-1	ATM;C11orf65	Benign	664143	RCV001520054\|RCV001692422\|RCV001712936\|RCV002225843;	N	MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	108225661	108225661	108225661	-
NM_000251.3(MSH2):c.2510C>G (p.Pro837Arg)	4436	MSH2	not provided	1573578602	RCV000844898;	N	MONDO:MONDO:0007254,MedGen:C0006142; MONDO:MONDO:0008840,MedGen:C0004135,OMIM:208900, Orphanet:100	2	47707886	47707886	2:g.47707886C>G	-

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