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: Ataxia Telangiectasia (D001260)
..Starting node ..Ataxia Telangiectasia Like Disorder (C565779)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

1043

Name:

Ataxia Telangiectasia Like Disorder

Definition:

Alternative IDs:

OMIM:604391|OMIM:615919

ParentIDs:

MESH:D001260

TreeNumbers:

C10.228.140.252.190.530.060/C565779 |C10.562.100/C565779 |C10.597.350.090.500.530.060/C565779 |C14.907.823.213/C565779 |C16.320.080/C565779 |C18.452.284.060/C565779 |C20.673.290/C565779

Synonyms:

ATAXIA-TELANGIECTASIA-LIKE DISORDER 1 |ATAXIA-TELANGIECTASIA-LIKE DISORDER 2 |ATLD |ATLD1 |ATLD2

Slim Mappings:

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

Reference:

MedGen: C565779
MeSH: C565779
OMIM: 604391;
MSeqDR :
Genes: MRE11A; PCNA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001272	Cerebellar atrophy
3	HP:0002072	Chorea NAMDC: Chorea
4	HP:0003693	Distal amyotrophy
5	HP:0001260	Dysarthria NAMDC: Dysarthria
6	HP:0002075	Dysdiadochokinesis
7	HP:0001332	Dystonia NAMDC: Dystonia
8	HP:0002359	Frequent falls
9	HP:0002066	Gait ataxia
10	HP:0000640	Gaze-evoked nystagmus
11	HP:0000571	Hypometric saccades
12	HP:0001265	Hyporeflexia
13	HP:0007772	Impaired smooth pursuit
14	HP:0002061	Lower limb spasticity
15	HP:0000657	Oculomotor apraxia
16	HP:0003676	Progressive
17	HP:0001009	Telangiectasia
18	HP:0003828	Variable expressivity

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_005591.4(MRE11):c.*2704G>C	4361	MRE11	Uncertain significance	1208748781	RCV001112412;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150587	94150587	11:g.94150587C>G	-
NM_005591.4(MRE11):c.*2703A>G	4361	MRE11	Uncertain significance	766297244	RCV000400768;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150588	94150588	NC_000011.9:g.94150588T>C	ClinGen:CA10635881	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2700C>T	4361	MRE11	Uncertain significance	1945056665	RCV001112413;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150591	94150591	11:g.94150591G>A	-
NM_005591.4(MRE11):c.*2699A>T	4361	MRE11	Benign	13447760	RCV000312170;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150592	94150592	NC_000011.9:g.94150592T>A	ClinGen:CA10639657	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2662A>G	4361	MRE11	Benign	13447759	RCV000369204;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150629	94150629	NC_000011.9:g.94150629T>C	ClinGen:CA10640484	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2658A>G	4361	MRE11	Uncertain significance	566334031	RCV001112414;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150633	94150633	11:g.94150633T>C	-
NM_005591.4(MRE11):c.*2531A>T	4361	MRE11	Uncertain significance	182128639	RCV001113760;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150760	94150760	11:g.94150760T>A	-
NM_005591.4(MRE11):c.*2501A>G	4361	MRE11	Benign	2155209	RCV000276984\|RCV001683237;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900	11	94150790	94150790	11:g.94150790T>C	ClinGen:CA10631721	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2466T>C	4361	MRE11	Benign	13447758	RCV001113761;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150825	94150825	11:g.94150825A>G	-
NM_005591.4(MRE11):c.*2452C>T	4361	MRE11	Uncertain significance	574670712	RCV000306318;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150839	94150839	11:g.94150839G>A	ClinGen:CA10635882	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2444A>G	4361	MRE11	Likely benign	369336016	RCV000363439;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150847	94150847	11:g.94150847T>C	ClinGen:CA10635894	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2324G>T	4361	MRE11	Uncertain significance	1289240828	RCV001113762;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150967	94150967	11:g.94150967C>A	-
NM_005591.4(MRE11):c.*2320T>C	4361	MRE11	Uncertain significance	886048746	RCV000271201;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150971	94150971	11:g.94150971A>G	ClinGen:CA10640485	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2296A>G	4361	MRE11	Uncertain significance	886048747	RCV000328625;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94150995	94150995	11:g.94150995T>C	ClinGen:CA10640489	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2258G>C	4361	MRE11	Uncertain significance	886048748	RCV000376307;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151033	94151033	11:g.94151033C>G	ClinGen:CA10635895	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2178A>C	4361	MRE11	Uncertain significance	886048749	RCV000266016;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151113	94151113	11:g.94151113T>G	ClinGen:CA10639662	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2170A>T	4361	MRE11	Uncertain significance	908126331	RCV001109745;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151121	94151121	11:g.94151121T>A	-
NM_005591.4(MRE11):c.*2106T>C	4361	MRE11	Uncertain significance	886048750	RCV000323360;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151185	94151185	11:g.94151185A>G	ClinGen:CA10631722	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2067A>G	4361	MRE11	Benign	13447755	RCV000380273;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151224	94151224	11:g.94151224T>C	ClinGen:CA10639668	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*2053T>C	4361	MRE11	Benign	13447754	RCV001109746;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151238	94151238	11:g.94151238A>G	-
NM_005591.4(MRE11):c.*1933G>T	4361	MRE11	Uncertain significance	104895004	RCV000114884\|RCV000278815;	N	MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151358	94151358	NC_000011.9:g.94151358C>A	ClinGen:CA230741	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1900C>T	4361	MRE11	Uncertain significance	1002764139	RCV001109747;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151391	94151391	11:g.94151391G>A	-
NM_005591.4(MRE11):c.*1776C>T	4361	MRE11	Uncertain significance	104895005	RCV000114885\|RCV000336118;	N	MedGen:CN517202\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151515	94151515	NC_000011.9:g.94151515G>A	ClinGen:CA230742	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1766G>C	4361	MRE11	Benign	13447752	RCV000374444;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151525	94151525	11:g.94151525C>G	ClinGen:CA10631725	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1743dup	4361	MRE11	Likely benign	200848216	RCV000282301;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151547	94151548	11:g.94151547_94151548insT	ClinGen:CA10639673	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1704G>A	4361	MRE11	Uncertain significance	986503335	RCV001110533;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151587	94151587	11:g.94151587C>T	-
NM_005591.4(MRE11):c.*1661A>C	4361	MRE11	Uncertain significance	539061083	RCV000348912;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151630	94151630	11:g.94151630T>G	ClinGen:CA10640492	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1554C>G	4361	MRE11	Uncertain significance	886048751	RCV000394643;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151737	94151737	11:g.94151737G>C	ClinGen:CA10631726	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1366G>A	4361	MRE11	Uncertain significance	146641719	RCV000314926;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151925	94151925	11:g.94151925C>T	ClinGen:CA10631732	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1304A>T	4361	MRE11	Uncertain significance	562083257	RCV000344106;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94151987	94151987	11:g.94151987T>A	ClinGen:CA10635903	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1174C>T	4361	MRE11	Uncertain significance	1406518680	RCV001110534;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152117	94152117	11:g.94152117G>A	-
NM_005591.4(MRE11):c.*1086A>G	4361	MRE11	Uncertain significance	886048752	RCV000399609;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152205	94152205	11:g.94152205T>C	ClinGen:CA10640497	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1083T>C	4361	MRE11	Benign	118070493	RCV000309137;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152208	94152208	11:g.94152208A>G	ClinGen:CA10631734	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*1082T>C	4361	MRE11	Uncertain significance	1356639226	RCV001112501;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152209	94152209	11:g.94152209A>G	-
NM_005591.4(MRE11):c.*997A>G	4361	MRE11	Likely benign	149208652	RCV000366112;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152294	94152294	11:g.94152294T>C	ClinGen:CA10640498	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*974C>G	4361	MRE11	Uncertain significance	757790109	RCV001112502;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152317	94152317	11:g.94152317G>C	-
NM_005591.4(MRE11):c.*973A>G	4361	MRE11	Uncertain significance	960070711	RCV001112503;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152318	94152318	11:g.94152318T>C	-
NM_005591.4(MRE11):c.*910dup	4361	MRE11	Uncertain significance	886048753	RCV000264388;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152380	94152381	11:g.94152380_94152381insA	ClinGen:CA10639679	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*877A>G	4361	MRE11	Uncertain significance	1945099852	RCV001112504;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152414	94152414	11:g.94152414T>C	-
NM_005591.4(MRE11):c.*848A>G	4361	MRE11	Uncertain significance	13447750	RCV000303200;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152443	94152443	11:g.94152443T>C	ClinGen:CA10635919	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*760G>A	4361	MRE11	Uncertain significance	557683409	RCV001113843;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152531	94152531	11:g.94152531C>T	-
NM_005591.4(MRE11):c.*741A>G	4361	MRE11	Uncertain significance	886048754	RCV000359888;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152550	94152550	11:g.94152550T>C	ClinGen:CA10639694	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*740G>A	4361	MRE11	Uncertain significance	1255215800	RCV001113844;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152551	94152551	11:g.94152551C>T	-
NM_005591.4(MRE11):c.*672G>A	4361	MRE11	Uncertain significance	199653893	RCV001113845;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152619	94152619	11:g.94152619C>T	-
NM_005591.4(MRE11):c.*671C>T	4361	MRE11	Uncertain significance	538218500	RCV000267499;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152620	94152620	NC_000011.9:g.94152620G>A	ClinGen:CA10635920	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*669C>G	4361	MRE11	Uncertain significance	886048755	RCV000315731;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152622	94152622	NC_000011.9:g.94152622G>C	ClinGen:CA10635921	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[16]	4361	MRE11	Uncertain significance	201800515	RCV000261725;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152631	94152632	NC_000011.9:g.94152632GA[16]	ClinGen:CA10631735	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*659CT[7]CCC[1]	4361	MRE11	Uncertain significance	373002609	RCV000288194;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152631	94152632	NC_000011.9:g.94152632_94152633insGGAGAGAGAGAGAGAG	ClinGen:CA10635922	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[17]	4361	MRE11	Uncertain significance	201800515	RCV000319260;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152631	94152632	NC_000011.9:g.94152632GA[17]	ClinGen:CA10635924	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[20]	4361	MRE11	Uncertain significance	201800515	RCV000293610;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152631	94152632	NC_000011.9:g.94152632GA[20]	ClinGen:CA10635928	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*660C>T	4361	MRE11	Uncertain significance	591959	RCV000354141;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152631	94152631	NC_000011.9:g.94152631G>A	ClinGen:CA10639695	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*659CT[4]CCC[1]	4361	MRE11	Uncertain significance	373002609	RCV000332757;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152631	94152632	NC_000011.9:g.94152632_94152633insGGAGAGAGAG	ClinGen:CA10639699	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*659CT[6]CCC[1]	4361	MRE11	Uncertain significance	373002609	RCV000389620;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152631	94152632	NC_000011.9:g.94152632_94152633insGGAGAGAGAGAGAG	ClinGen:CA10639700	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[18]	4361	MRE11	Uncertain significance	201800515	RCV000385521;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152631	94152632	NC_000011.9:g.94152632GA[18]	ClinGen:CA10640500	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*630TC[14]	4361	MRE11	Uncertain significance	201800515	RCV000345538;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152632	94152633	NC_000011.9:g.94152632GA[14]	ClinGen:CA10639702	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*658T>C	4361	MRE11	Uncertain significance	11020777	RCV001113846;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152633	94152633	11:g.94152633A>G	-
NM_005591.4(MRE11):c.*656T>C	4361	MRE11	Uncertain significance	104895009	RCV000114889\|RCV001109824;	N	MedGen:CN517202\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152635	94152635	NC_000011.9:g.94152635A>G	ClinGen:CA230746	CN517202 not provided;
NM_005591.4(MRE11):c.*628G>A	4361	MRE11	Likely benign	142407545	RCV000398176;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152663	94152663	NC_000011.9:g.94152663C>T	ClinGen:CA10640502	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*593A>C	4361	MRE11	Uncertain significance	909793927	RCV001109825;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152698	94152698	11:g.94152698T>G	-
NM_005591.4(MRE11):c.*570A>C	4361	MRE11	Uncertain significance	397509346	RCV000054454\|RCV001109826;	N	MONDO:MONDO:0001187,MedGen:C0005684,OMIM:109800, Orphanet:157980\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152721	94152721	11:g.94152721T>G	ClinGen:CA144579	C0005684 109800 Bladder cancer, somatic;
NM_005591.4(MRE11):c.*511G>A	4361	MRE11	Benign	13447749	RCV000291543;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152780	94152780	NC_000011.9:g.94152780C>T	ClinGen:CA10631739	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*447T>G	4361	MRE11	Uncertain significance	886048757	RCV000339644;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152844	94152844	NC_000011.9:g.94152844A>C	ClinGen:CA10635934	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*442A>G	4361	MRE11	Benign	1061956	RCV000399980;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152849	94152849	NC_000011.9:g.94152849T>C	ClinGen:CA10639703	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*429A>G	4361	MRE11	Uncertain significance	758803920	RCV001109827;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152862	94152862	11:g.94152862T>C	-
NM_005591.4(MRE11):c.*313G>A	4361	MRE11	Uncertain significance	886048758	RCV000304924;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94152978	94152978	NC_000011.9:g.94152978C>T	ClinGen:CA10639704	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*193T>C	4361	MRE11	Uncertain significance	1005817752	RCV001110618;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94153098	94153098	11:g.94153098A>G	-
NM_005591.4(MRE11):c.*189G>A	4361	MRE11	Likely benign	151287483	RCV000362011;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94153102	94153102	NC_000011.9:g.94153102C>T	ClinGen:CA10640503	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.*183G>A	4361	MRE11	Benign	13447745	RCV000390025;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94153108	94153108	NC_000011.9:g.94153108C>T	ClinGen:CA10640513	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NC_000011.10:g.(?_94420119)_(94437241_?)del	4361	MRE11	Uncertain significance	-1	RCV000642472;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94153285	94170407		-	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
GRCh37/hg19 11q21(chr11:94153291-94170401)	4361	MRE11	Pathogenic	-1	RCV001254035;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94153291	94170401	-1	-
NM_005591.4(MRE11):c.2124A>G (p.Arg708=)	4361	MRE11	Conflicting interpretations of pathogenicity	138017560	RCV000562213\|RCV003459287;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94153294	94153294	NC_000011.9:g.94153294T>C	ClinGen:CA226538942	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.2099C>G (p.Thr700Ser)	4361	MRE11	Uncertain significance	374685908	RCV000218975\|RCV000525528\|RCV002229936;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94153319	94153319	11:g.94153319G>C	ClinGen:CA6234894	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2092A>G (p.Met698Val)	4361	MRE11	Benign	1805362	RCV000117633\|RCV000128960\|RCV000410760\|RCV000712325\|RCV001080129\|RCV002225341;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	11	94153326	94153326	11:g.94153326T>C	ClinGen:CA153719,UniProtKB:P49959#VAR_019289	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2071GAT[6] (p.Asp695dup)	4361	MRE11	Uncertain significance	779409748	RCV000166107\|RCV000549395\|RCV001292959\|RCV002472956;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900	11	94153332	94153333	11:g.94153332_94153333insATC	ClinGen:CA195021	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2076T>A (p.Asp692Glu)	4361	MRE11	Uncertain significance	778093337	RCV000163872\|RCV000524528\|RCV001110619;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94153342	94153342	11:g.94153342A>T	ClinGen:CA189398	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2071-15T>A	4361	MRE11	Uncertain significance	-1	RCV003461878;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94153362	94153362		-
NM_005591.4(MRE11):c.2071-53G>T	4361	MRE11	Benign/Likely benign	13447742	RCV000209483\|RCV000411487\|RCV001546456;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900	11	94153400	94153400	11:g.94153400C>A	ClinGen:CA351048	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2070+14A>C	4361	MRE11	Conflicting interpretations of pathogenicity	369127675	RCV000409860\|RCV002230745\|RCV003237838;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN517202	11	94163063	94163063	NC_000011.9:g.94163063T>G	ClinGen:CA6234906	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2070+2T>A	4361	MRE11	Conflicting interpretations of pathogenicity	786202801	RCV000165802\|RCV000416696\|RCV000642458\|RCV003468758;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94163075	94163075	11:g.94163075A>T	ClinGen:CA194226	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2042C>T (p.Ser681Leu)	4361	MRE11	Uncertain significance	587782166	RCV000130759\|RCV000410737\|RCV001034669\|RCV001753515;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94163105	94163105	11:g.94163105G>A	ClinGen:CA167057	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.2035C>T (p.Gln679Ter)	4361	MRE11	Uncertain significance	-1	RCV002460441\|RCV003465769;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94163112	94163112	NC_000011.9:g.94163112G>A	-
NM_005591.4(MRE11):c.2029C>T (p.Gln677Ter)	4361	MRE11	Likely pathogenic	-1	RCV003470197;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94163118	94163118		-
NM_005591.4(MRE11):c.1994+10G>A	4361	MRE11	Benign	1805366	RCV000298889\|RCV000586722\|RCV001079590\|RCV001289102\|RCV002225508;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	94168988	94168988	11:g.94168988C>T	ClinGen:CA349887	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs)	4361	MRE11	Conflicting interpretations of pathogenicity	587781442	RCV000129354\|RCV000642448\|RCV001034650\|RCV001795249;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94169012	94169013	11:g.94169012_94169013insGAAGTGGTAGGAAAAATGTC	ClinGen:CA333185	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1927-1G>T	4361	MRE11	Likely pathogenic	1295485913	RCV000564266\|RCV000662872\|RCV002231529;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94169066	94169066	NC_000011.9:g.94169066C>A	ClinGen:CA382374166	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1927-2A>G	4361	MRE11	Likely pathogenic	587781822	RCV000130102\|RCV000988623\|RCV001376961;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94169067	94169067	11:g.94169067T>C	ClinGen:CA165710	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1916A>C (p.Asn639Thr)	4361	MRE11	Uncertain significance	-1	RCV003470196;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94170353	94170353		-
NM_005591.4(MRE11):c.1897C>T (p.Arg633Ter)	4361	MRE11	Pathogenic	137852759	RCV000009327\|RCV000565698\|RCV001034660;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94170372	94170372	11:g.94170372G>A	ClinGen:CA119918,OMIM:600814.0001	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1888C>T (p.Gln630Ter)	4361	MRE11	Pathogenic/Likely pathogenic	2134840569	RCV002239652\|RCV003464408;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94170381	94170381	94170381	-
NM_005591.4(MRE11):c.1883G>A (p.Arg628Lys)	4361	MRE11	Uncertain significance	587781835	RCV000130126\|RCV001347442\|RCV002478393\|RCV003133142;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94170386	94170386	11:g.94170386C>T	ClinGen:CA165755	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1882A>T (p.Arg628Ter)	4361	MRE11	Pathogenic/Likely pathogenic	1411087205	RCV001013509\|RCV003467610;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94170387	94170387	11:g.94170387T>A	-
NM_005591.4(MRE11):c.1868-4C>A	4361	MRE11	Conflicting interpretations of pathogenicity	768257868	RCV000356327\|RCV001013455\|RCV002229956;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94170405	94170405	NC_000011.9:g.94170405G>T	ClinGen:CA10640514	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1868-5T>C	4361	MRE11	Conflicting interpretations of pathogenicity	773911334	RCV001013456\|RCV001788397\|RCV002236100;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94170406	94170406	11:g.94170406A>G	-
NM_005591.4(MRE11):c.1867+2T>C	4361	MRE11	Pathogenic/Likely pathogenic	745677716	RCV000166874\|RCV001378979\|RCV001781515;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94178974	94178974	11:g.94178974A>G	ClinGen:CA196923	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1858A>G (p.Ile620Val)	4361	MRE11	Uncertain significance	144070976	RCV000131613\|RCV000263891\|RCV001065906\|RCV003422026;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|	11	94178985	94178985	11:g.94178985T>C	ClinGen:CA168456	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1853T>G (p.Met618Arg)	4361	MRE11	Uncertain significance	748933763	RCV000216532\|RCV000330635\|RCV001324948;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94178990	94178990	11:g.94178990A>C	ClinGen:CA6234979	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1852A>G (p.Met618Val)	4361	MRE11	Uncertain significance	375630981	RCV000131401\|RCV000508182\|RCV002228662\|RCV002498644;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94178991	94178991	NC_000011.9:g.94178991T>C	ClinGen:CA168105	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1811G>A (p.Arg604His)	4361	MRE11	Uncertain significance	148637964	RCV000115911\|RCV000212572\|RCV000411847\|RCV000791355\|RCV001778710;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374	11	94179032	94179032	NC_000011.9:g.94179032C>T	ClinGen:CA331837	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1807A>G (p.Thr603Ala)	4361	MRE11	Uncertain significance	751657849	RCV000221518\|RCV001049319\|RCV003133191;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94179036	94179036	11:g.94179036T>C	ClinGen:CA6234985	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1800G>T (p.Glu600Asp)	4361	MRE11	Uncertain significance	1028566396	RCV000463914\|RCV000627769\|RCV002480390\|RCV003133268;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94179043	94179043	NC_000011.9:g.94179043C>A	ClinGen:CA16613646	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln)	4361	MRE11	Conflicting interpretations of pathogenicity	145415033	RCV000131661\|RCV000731881\|RCV000781549\|RCV001081514\|RCV001112603\|RCV002225446;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	11	94179045	94179045	11:g.94179045C>G	ClinGen:CA333269	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1798del (p.Glu600fs)	4361	MRE11	Likely pathogenic	-1	RCV003470209;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94179045	94179045		-
NM_005591.4(MRE11):c.1783+10G>C	4361	MRE11	Conflicting interpretations of pathogenicity	864622589	RCV001112604\|RCV001408988;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94180375	94180375	11:g.94180375C>G	ClinGen:CA348985	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1783+7A>G	4361	MRE11	Conflicting interpretations of pathogenicity	774520952	RCV000368990\|RCV000708710\|RCV000859063;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94180378	94180378	NC_000011.9:g.94180378T>C	ClinGen:CA350748	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1783+5G>C	4361	MRE11	Conflicting interpretations of pathogenicity	142082313	RCV000115910\|RCV000589610\|RCV001080166\|RCV001287216\|RCV002225331\|RCV002477282;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:	11	94180380	94180380	NC_000011.9:g.94180380C>G	ClinGen:CA331836	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1783+1G>A	4361	MRE11	Likely pathogenic	-1	RCV002463236\|RCV002488670;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180384	94180384	NC_000011.9:g.94180384C>T	-
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly)	4361	MRE11	Benign/Likely benign	576878377	RCV000130116\|RCV000248684\|RCV000524522\|RCV001112605\|RCV002225429;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:	11	94180388	94180388	11:g.94180388T>C	ClinGen:CA333213	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1775G>A (p.Arg592Lys)	4361	MRE11	Uncertain significance	-1	RCV003470202;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180393	94180393		-
NM_005591.4(MRE11):c.1758G>A (p.Ser586=)	4361	MRE11	Conflicting interpretations of pathogenicity	766372720	RCV000166497\|RCV000276910\|RCV000874586;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94180410	94180410	11:g.94180410C>T	ClinGen:CA196027	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1753G>A (p.Ala585Thr)	4361	MRE11	Uncertain significance	754790440	RCV000572406\|RCV002232092\|RCV003465199;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180415	94180415	11:g.94180415C>T	ClinGen:CA6235006	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1744_1747dup (p.Asn583fs)	4361	MRE11	Likely pathogenic	-1	RCV003470191;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180420	94180421		-
NM_005591.4(MRE11):c.1736G>A (p.Gly579Glu)	4361	MRE11	Uncertain significance	757916109	RCV000203835\|RCV002229168\|RCV003468941;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180432	94180432	11:g.94180432C>T	ClinGen:CA348130	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1726C>T (p.Arg576Ter)	4361	MRE11	Pathogenic	774277300	RCV000163701\|RCV000627764\|RCV001034648\|RCV001531122\|RCV001651033;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|Human Phenotype Ontology:HP:0100273,MONDO:MONDO:0005401,Me	11	94180442	94180442	11:g.94180442G>A	ClinGen:CA333838	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1726C>G (p.Arg576Gly)	4361	MRE11	Uncertain significance	774277300	RCV000166359\|RCV000505885\|RCV000524520\|RCV002252012\|RCV003468781\|RCV003407619;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|	11	94180442	94180442	NC_000011.9:g.94180442G>C	ClinGen:CA195646	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1724G>T (p.Gly575Val)	4361	MRE11	Uncertain significance	376555330	RCV000130046\|RCV000684770\|RCV000712324\|RCV001113938;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180444	94180444	11:g.94180444C>A	ClinGen:CA333210	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1724G>A (p.Gly575Asp)	4361	MRE11	Uncertain significance	376555330	RCV000206575\|RCV000524519\|RCV003468960;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180444	94180444	11:g.94180444C>T	ClinGen:CA350598	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1714C>T (p.Arg572Ter)	4361	MRE11	Pathogenic/Likely pathogenic	137852761	RCV000009329\|RCV000130661\|RCV000791361\|RCV001531123;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94180454	94180454	11:g.94180454G>A	ClinGen:CA119923,OMIM:600814.0003	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1699A>G (p.Asn567Asp)	4361	MRE11	Uncertain significance	778585671	RCV000166221\|RCV000712323\|RCV000684790\|RCV003133157;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180469	94180469	11:g.94180469T>C	ClinGen:CA195296	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1667A>G (p.Asn556Ser)	4361	MRE11	Conflicting interpretations of pathogenicity	144896235	RCV000131531\|RCV000515229\|RCV000791406\|RCV000994695;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94180501	94180501	11:g.94180501T>C	ClinGen:CA333255	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1643T>C (p.Ile548Thr)	4361	MRE11	Conflicting interpretations of pathogenicity	373522639	RCV000131733\|RCV000518010\|RCV000627772\|RCV001113939\|RCV003323411;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:CN169374	11	94180525	94180525	11:g.94180525A>G	ClinGen:CA333272	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1633_1640del (p.Leu545fs)	4361	MRE11	Pathogenic/Likely pathogenic	876660186	RCV000218839\|RCV002229304\|RCV003469065;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180528	94180535	11:g.94180528_94180535del	ClinGen:CA10579368	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1616C>T (p.Ala539Val)	4361	MRE11	Uncertain significance	-1	RCV003132682;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180552	94180552	NC_000011.9:g.94180552G>A	-
NM_005591.4(MRE11):c.1609G>C (p.Ala537Pro)	4361	MRE11	Uncertain significance	587781839	RCV000130134\|RCV003133143;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180559	94180559	11:g.94180559C>G	ClinGen:CA165774	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1596G>C (p.Gln532His)	4361	MRE11	Uncertain significance	-1	RCV002460511\|RCV003464562;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94180572	94180572	NC_000011.9:g.94180572C>G	-
NM_005591.4(MRE11):c.1574G>A (p.Arg525Lys)	4361	MRE11	Uncertain significance	773275841	RCV000164850\|RCV000411963\|RCV001209800;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94180594	94180594	11:g.94180594C>T	ClinGen:CA191919	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1500+1153_1563+1027del	4361	MRE11	Likely pathogenic	-1	RCV000791290;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94188415	94191421	11:g.94188415_94188513del	-
NM_005591.4(MRE11):c.1552dup (p.Glu518fs)	4361	MRE11	Pathogenic	2134969994	RCV001784676;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94189452	94189453	94189452	-
NM_005591.4(MRE11):c.1545A>G (p.Glu515=)	4361	MRE11	Conflicting interpretations of pathogenicity	886048759	RCV000324914\|RCV001468244\|RCV002461066;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94189460	94189460	NC_000011.9:g.94189460T>C	ClinGen:CA10640515	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1545del (p.Asp516fs)	4361	MRE11	Likely pathogenic	-1	RCV003470199;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94189460	94189460		-
NM_005591.4(MRE11):c.1532dup (p.Asn511fs)	4361	MRE11	Pathogenic/Likely pathogenic	-1	RCV002463306\|RCV003103046\|RCV003465768;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94189472	94189473	NC_000011.9:g.94189479dup	-
NM_005591.4(MRE11):c.1516G>T (p.Glu506Ter)	4361	MRE11	Conflicting interpretations of pathogenicity	587781384	RCV000129216\|RCV000513255\|RCV000797374\|RCV000988624;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94189489	94189489	11:g.94189489C>A	ClinGen:CA163970	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1516G>A (p.Glu506Lys)	4361	MRE11	Uncertain significance	587781384	RCV000165707\|RCV003468753;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94189489	94189489	11:g.94189489C>T	ClinGen:CA194035	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1508G>A (p.Arg503His)	4361	MRE11	Uncertain significance	774057024	RCV000204840\|RCV001201360\|RCV001030636\|RCV003468956;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94189497	94189497	11:g.94189497C>T	ClinGen:CA349024,UniProtKB:P49959#VAR_011627	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1507C>T (p.Arg503Cys)	4361	MRE11	Uncertain significance	761458720	RCV000215319\|RCV000807720\|RCV001762485\|RCV003237777;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900	11	94189498	94189498	11:g.94189498G>A	ClinGen:CA6235053	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys)	4361	MRE11	Conflicting interpretations of pathogenicity	186333183	RCV000131015\|RCV000381943\|RCV000791405\|RCV001579337\|RCV001731391\|RCV002225441;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	11	94189501	94189501	11:g.94189501G>A	ClinGen:CA333235	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1500+2T>A	4361	MRE11	Likely pathogenic	1185519347	RCV001782455;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192572	94192572	94192572	-
NM_005591.4(MRE11):c.1499A>T (p.Glu500Val)	4361	MRE11	Uncertain significance	786203159	RCV000166346\|RCV000765025\|RCV001034668\|RCV002472959;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94192575	94192575	11:g.94192575T>A	ClinGen:CA195620	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1496A>G (p.Glu499Gly)	4361	MRE11	Uncertain significance	774145193	RCV000219982\|RCV000823379\|RCV003468984;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192578	94192578	11:g.94192578T>C	ClinGen:CA6235070	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1496A>T (p.Glu499Val)	4361	MRE11	Uncertain significance	774145193	RCV000572162\|RCV003465200;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192578	94192578	11:g.94192578T>A	ClinGen:CA382371617	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1491C>T (p.Ile497=)	4361	MRE11	Conflicting interpretations of pathogenicity	199634245	RCV000163694\|RCV000663118\|RCV000859203;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94192583	94192583	11:g.94192583G>A	ClinGen:CA333835	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1480G>A (p.Glu494Lys)	4361	MRE11	Conflicting interpretations of pathogenicity	104895016	RCV000114896\|RCV000131601\|RCV000524518\|RCV000781546\|RCV000791398;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:CN169374\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94192594	94192594	NC_000011.9:g.94192594C>T	ClinGen:CA230753	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1478T>G (p.Leu493Arg)	4361	MRE11	Uncertain significance	786203158	RCV000166345\|RCV000765026\|RCV001034667\|RCV002472958;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94192596	94192596	11:g.94192596A>C	ClinGen:CA195617	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp)	4361	MRE11	Conflicting interpretations of pathogenicity	61749249	RCV000114897\|RCV000115907\|RCV000193395\|RCV000524517\|RCV001079570\|RCV002225316;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	11	94192599	94192599	NC_000011.9:g.94192599G>T	ClinGen:CA206852	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1475C>T (p.Ala492Val)	4361	MRE11	Uncertain significance	61749249	RCV000217220\|RCV003469046;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192599	94192599	11:g.94192599G>A	ClinGen:CA6235075	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1463G>A (p.Arg488His)	4361	MRE11	Uncertain significance	145377856	RCV000163173\|RCV000289892\|RCV000791399;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94192611	94192611	11:g.94192611C>T	ClinGen:CA187648	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1462C>T (p.Arg488Cys)	4361	MRE11	Conflicting interpretations of pathogenicity	375261439	RCV000115906\|RCV000212568\|RCV000524516\|RCV003224151;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192612	94192612	NC_000011.9:g.94192612G>A	ClinGen:CA288164	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1458_1461del (p.Lys486fs)	4361	MRE11	Likely pathogenic	-1	RCV003470193;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192613	94192616		-
NM_005591.4(MRE11):c.1456A>G (p.Lys486Glu)	4361	MRE11	Uncertain significance	767896176	RCV000568897\|RCV001335298;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192618	94192618	11:g.94192618T>C	ClinGen:CA6235077	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1447C>T (p.Arg483Ter)	4361	MRE11	Pathogenic/Likely pathogenic	780001540	RCV000216978\|RCV000642442\|RCV001554327\|RCV003469031;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192627	94192627	11:g.94192627G>A	ClinGen:CA6235079	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1442C>A (p.Thr481Lys)	4361	MRE11	Pathogenic	137852762	RCV000009330;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192632	94192632	11:g.94192632G>T	ClinGen:CA119927,OMIM:600814.0004	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1441dup (p.Thr481fs)	4361	MRE11	Pathogenic/Likely pathogenic	-1	RCV002461478\|RCV003147770;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192632	94192633	NC_000011.9:g.94192638dup	-
NM_005591.4(MRE11):c.1441del (p.Thr481fs)	4361	MRE11	Pathogenic/Likely pathogenic	747832587	RCV000199221\|RCV001384423\|RCV003468896;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192633	94192633	NC_000011.9:g.94192638del	ClinGen:CA338472	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1420G>A (p.Val474Met)	4361	MRE11	Uncertain significance	778781414	RCV000537357\|RCV001011506\|RCV001201393;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94192654	94192654	NC_000011.9:g.94192654C>T	ClinGen:CA382371853	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1418T>C (p.Leu473Ser)	4361	MRE11	Uncertain significance	771843497	RCV000199015\|RCV000524514\|RCV003462334;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192656	94192656	NC_000011.9:g.94192656A>G	ClinGen:CA338342	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1404T>C (p.Asp468=)	4361	MRE11	Conflicting interpretations of pathogenicity	368144567	RCV000166278\|RCV000328552\|RCV001087058;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94192670	94192670	11:g.94192670A>G	ClinGen:CA195441	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1356_1357del (p.Gly453fs)	4361	MRE11	Likely pathogenic	-1	RCV003470195;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192717	94192718		-
NM_005591.4(MRE11):c.1334A>G (p.Gln445Arg)	4361	MRE11	Uncertain significance	371730091	RCV000131699\|RCV000765027\|RCV000992324\|RCV002228505;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94192740	94192740	11:g.94192740T>C	ClinGen:CA168621	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1327-1del	4361	MRE11	Likely pathogenic	-1	RCV003470210;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94192748	94192748		-
NM_005591.4(MRE11):c.1326+2T>G	4361	MRE11	Likely pathogenic	1475506136	RCV001011042\|RCV002236081\|RCV003467593;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94194100	94194100	11:g.94194100A>C	-
NM_005591.4(MRE11):c.1326+2T>C	4361	MRE11	Likely pathogenic	-1	RCV003470208;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94194100	94194100		-
NM_005591.4(MRE11):c.1326G>A (p.Lys442=)	4361	MRE11	Uncertain significance	1591674710	RCV001011043\|RCV002497335;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94194102	94194102	11:g.94194102C>T	-
NM_005591.4(MRE11):c.1318G>T (p.Ala440Ser)	4361	MRE11	Uncertain significance	773469981	RCV000572732\|RCV000765028\|RCV001343633;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94194110	94194110	NC_000011.9:g.94194110C>A	ClinGen:CA6235106	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1288G>T (p.Glu430Ter)	4361	MRE11	Likely pathogenic	-1	RCV003470206;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94194140	94194140		-
NM_005591.4(MRE11):c.1286T>C (p.Val429Ala)	4361	MRE11	Conflicting interpretations of pathogenicity	141293060	RCV000131418\|RCV000517743\|RCV000524513\|RCV003133145\|RCV003235057\|RCV003398769;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:CN169374\|	11	94194142	94194142	11:g.94194142A>G	ClinGen:CA333250	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1275A>C (p.Thr425=)	4361	MRE11	Conflicting interpretations of pathogenicity	749712745	RCV000162504\|RCV001109911\|RCV001401844;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94194153	94194153	11:g.94194153T>G	ClinGen:CA186376	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1252dup (p.Ile418fs)	4361	MRE11	Pathogenic/Likely pathogenic	1555009931	RCV000569572\|RCV003465267;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94194175	94194176	NC_000011.9:g.94194176dup	ClinGen:CA658658097	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1253T>A (p.Ile418Asn)	4361	MRE11	Uncertain significance	769500356	RCV000570084\|RCV003459288;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94194175	94194175	11:g.94194175A>T	ClinGen:CA6235117	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1244G>A (p.Gly415Glu)	4361	MRE11	Uncertain significance	1946400969	RCV001109912\|RCV002258136;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94194184	94194184	11:g.94194184C>T	-
NM_005591.4(MRE11):c.1238A>G (p.Asn413Ser)	4361	MRE11	Uncertain significance	587782457	RCV000131542\|RCV000376230\|RCV001289101\|RCV002228663;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94194190	94194190	11:g.94194190T>C	ClinGen:CA168323	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1233G>A (p.Glu411=)	4361	MRE11	Conflicting interpretations of pathogenicity	748756180	RCV000221037\|RCV001109913\|RCV001469622;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94194195	94194195	11:g.94194195C>T	ClinGen:CA6235118	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1226-5T>C	4361	MRE11	Conflicting interpretations of pathogenicity	1555009952	RCV000663303\|RCV001010426;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94194207	94194207	11:g.94194207A>G	-	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1225+19T>C	4361	MRE11	Benign	641936	RCV000174111\|RCV000412379\|RCV000586234\|RCV002228782\|RCV002225492;	N	MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	94197260	94197260	11:g.94197260A>G	ClinGen:CA200836	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1225+10T>G	4361	MRE11	Conflicting interpretations of pathogenicity	863224734	RCV000200713\|RCV000281306;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197269	94197269	NC_000011.9:g.94197269A>C	ClinGen:CA339507	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1225+2T>C	4361	MRE11	Pathogenic/Likely pathogenic	145058858	RCV001010421\|RCV001784556;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197277	94197277	11:g.94197277A>G	-
NM_005591.4(MRE11):c.1222dup (p.Thr408fs)	4361	MRE11	Pathogenic/Likely pathogenic	774440500	RCV000163829\|RCV000761797\|RCV001052500\|RCV003444061;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197281	94197282	NC_000011.9:g.94197287dup	ClinGen:CA189291	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1210C>T (p.Gln404Ter)	4361	MRE11	Pathogenic/Likely pathogenic	1180352898	RCV001010337\|RCV003461315;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197294	94197294	11:g.94197294G>A	-
NM_005591.4(MRE11):c.1201C>G (p.His401Asp)	4361	MRE11	Uncertain significance	876660542	RCV000223614\|RCV001063241\|RCV003133192;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197303	94197303	11:g.94197303G>C	ClinGen:CA10579385	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1195T>C (p.Phe399Leu)	4361	MRE11	Uncertain significance	904951211	RCV000575524\|RCV002528133\|RCV003465235;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197309	94197309	11:g.94197309A>G	ClinGen:CA226530211	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1190A>C (p.His397Pro)	4361	MRE11	Uncertain significance	372657126	RCV000131008\|RCV000700560\|RCV003133144\|RCV003415957;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|	11	94197314	94197314	11:g.94197314T>G	ClinGen:CA167542	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1187del (p.Ile396fs)	4361	MRE11	Likely pathogenic	-1	RCV003461879;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197317	94197317		-
NM_005591.4(MRE11):c.1180G>C (p.Asp394His)	4361	MRE11	Uncertain significance	876658546	RCV000218986\|RCV002518267\|RCV003468999;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197324	94197324	11:g.94197324C>G	ClinGen:CA10579386	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1166T>A (p.Val389Glu)	4361	MRE11	Uncertain significance	1591680946	RCV000985223\|RCV002462243;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94197338	94197338	11:g.94197338A>T	-
NM_005591.4(MRE11):c.1163G>A (p.Arg388Gln)	4361	MRE11	Uncertain significance	587780134	RCV000115903\|RCV000212567\|RCV000765029\|RCV000791404;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94197341	94197341	NC_000011.9:g.94197341C>T	ClinGen:CA331827	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1163G>C (p.Arg388Pro)	4361	MRE11	Uncertain significance	587780134	RCV000822676\|RCV001010067\|RCV003467512;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197341	94197341	11:g.94197341C>G	-
NM_005591.4(MRE11):c.1145G>C (p.Ser382Thr)	4361	MRE11	Uncertain significance	745769023	RCV000214375\|RCV000765030\|RCV001302309;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94197359	94197359	11:g.94197359C>G	ClinGen:CA6235140	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1143del (p.Phe381fs)	4361	MRE11	Pathogenic/Likely pathogenic	863224508	RCV000197350\|RCV001067349\|RCV003462311;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197361	94197361	11:g.94197361_94197361del	ClinGen:CA337134	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1139G>A (p.Arg380His)	4361	MRE11	Uncertain significance	587781646	RCV000129776\|RCV000524511\|RCV000780433\|RCV000992323\|RCV003467120;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197365	94197365	11:g.94197365C>T	ClinGen:CA165066	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1100_1131del (p.Val367fs)	4361	MRE11	Likely pathogenic	1946499901	RCV001669300\|RCV003470877;	N	Human Phenotype Ontology:HP:0003002,MONDO:MONDO:0004989,MedGen:C0678222\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197373	94197404	94197372	-
NM_005591.4(MRE11):c.1127del (p.Phe376fs)	4361	MRE11	Likely pathogenic	-1	RCV003461877;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197377	94197377		-
NM_005591.4(MRE11):c.1112dup (p.Gly372fs)	4361	MRE11	Pathogenic/Likely pathogenic	1591681273	RCV000995583\|RCV001205827;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94197391	94197392	11:g.94197391_94197392insC	-
NM_005591.4(MRE11):c.1110T>G (p.Ser370Arg)	4361	MRE11	Uncertain significance	-1	RCV003120232;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197394	94197394	NC_000011.9:g.94197394A>C	-
NM_005591.4(MRE11):c.1109G>C (p.Ser370Thr)	4361	MRE11	Uncertain significance	-1	RCV003132681;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94197395	94197395	NC_000011.9:g.94197395C>G	-
NM_005591.4(MRE11):c.1098+17T>C	4361	MRE11	Benign	1805365	RCV000128913\|RCV000251662\|RCV000409241\|RCV000587873\|RCV002225420\|RCV002228469;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0011457,MedGen:C18	11	94200962	94200962	11:g.94200962A>G	ClinGen:CA163536	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1098+1G>T	4361	MRE11	Likely pathogenic	-1	RCV003470201;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94200978	94200978		-
NM_005591.4(MRE11):c.1098+1del	4361	MRE11	Uncertain significance	-1	RCV003470204;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94200978	94200978		-
NM_005591.4(MRE11):c.1097G>A (p.Arg366Gln)	4361	MRE11	Uncertain significance	773968042	RCV000163072\|RCV000529843\|RCV002228560;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94200980	94200980	11:g.94200980C>T	ClinGen:CA187379	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1091G>T (p.Arg364Leu)	4361	MRE11	Uncertain significance	140528613	RCV001017252\|RCV002232294\|RCV003470754;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94200986	94200986	11:g.94200986C>A	ClinGen:CA226531033	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1090C>T (p.Arg364Ter)	4361	MRE11	Pathogenic	371077728	RCV000129234\|RCV000662680\|RCV000791403\|RCV001092185\|RCV002509233;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:	11	94200987	94200987	11:g.94200987G>A	ClinGen:CA333173	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1084C>G (p.Leu362Val)	4361	MRE11	Uncertain significance	1565226205	RCV001110706\|RCV003283980;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94200993	94200993	11:g.94200993G>C	-
NM_005591.4(MRE11):c.1074A>G (p.Pro358=)	4361	MRE11	Conflicting interpretations of pathogenicity	876659934	RCV000225827\|RCV000524509\|RCV001762492\|RCV003237778;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900	11	94201003	94201003	11:g.94201003T>C	ClinGen:CA10579392	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1069C>T (p.Gln357Ter)	4361	MRE11	Likely pathogenic	-1	RCV003470211;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94201008	94201008		-
NM_005591.4(MRE11):c.1051C>T (p.Arg351Cys)	4361	MRE11	Uncertain significance	757492041	RCV000164530\|RCV000336333\|RCV000791423\|RCV000994697;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94201026	94201026	11:g.94201026G>A	ClinGen:CA191193	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1046G>A (p.Arg349Gln)	4361	MRE11	Uncertain significance	864622683	RCV000205970\|RCV000575585\|RCV001193483\|RCV003468965;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94201031	94201031	11:g.94201031C>T	ClinGen:CA350055	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1045C>T (p.Arg349Trp)	4361	MRE11	Uncertain significance	570102851	RCV000223190\|RCV000763777\|RCV001064569;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94201032	94201032	11:g.94201032G>A	ClinGen:CA10579393	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1032T>G (p.Leu344=)	4361	MRE11	Benign	11020793	RCV000129049\|RCV000212565\|RCV000410736\|RCV000586471\|RCV001081395\|RCV002225423;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	11	94201045	94201045	11:g.94201045A>C	ClinGen:CA333159	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.1018del (p.Ile340fs)	4361	MRE11	Pathogenic	2135024880	RCV001784674;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94201059	94201059	94201058	-
NM_005591.4(MRE11):c.1015A>T (p.Lys339Ter)	4361	MRE11	Pathogenic/Likely pathogenic	984874083	RCV000516990\|RCV000561055\|RCV001783013\|RCV002527494;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94203639	94203639	11:g.94203639T>A	ClinGen:CA226531412	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.1002C>G (p.Ser334Arg)	4361	MRE11	Benign	115244417	RCV000129222\|RCV000396813\|RCV000589426\|RCV001080118\|RCV001289100\|RCV002225426;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	11	94203652	94203652	11:g.94203652G>C	ClinGen:CA163993	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.986C>A (p.Thr329Asn)	4361	MRE11	Uncertain significance	370645480	RCV000223376\|RCV000704453\|RCV003469097;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203668	94203668	11:g.94203668G>T	ClinGen:CA6235250	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.981A>G (p.Lys327=)	4361	MRE11	Uncertain significance	587782569	RCV000131792\|RCV001110707\|RCV002228667;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94203673	94203673	11:g.94203673T>C	ClinGen:CA168765	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.969A>G (p.Pro323=)	4361	MRE11	Benign/Likely benign	13447633	RCV000160574\|RCV000212564\|RCV000409014\|RCV000712329\|RCV001083858;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94203685	94203685	NC_000011.9:g.94203685T>C	ClinGen:CA333741	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.958A>G (p.Ile320Val)	4361	MRE11	Uncertain significance	762210984	RCV001019512\|RCV003132143;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203696	94203696	11:g.94203696T>C	-
NM_005591.4(MRE11):c.946A>G (p.Asn316Asp)	4361	MRE11	Conflicting interpretations of pathogenicity	767684060	RCV000548856\|RCV002461308\|RCV003470755;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203708	94203708	NC_000011.9:g.94203708T>C	ClinGen:CA6235255	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.940C>T (p.Leu314=)	4361	MRE11	Conflicting interpretations of pathogenicity	368362407	RCV000163491\|RCV001110708\|RCV000867432;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94203714	94203714	11:g.94203714G>A	ClinGen:CA188436	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.923dup (p.Met309fs)	4361	MRE11	Pathogenic/Likely pathogenic	587781828	RCV000130113\|RCV003467131;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203730	94203731	11:g.94203730_94203731insA	ClinGen:CA165722	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.914G>A (p.Arg305Gln)	4361	MRE11	Uncertain significance	752483206	RCV000287129\|RCV001018917\|RCV001217476;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94203740	94203740	NC_000011.9:g.94203740C>T	ClinGen:CA6235263	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.913C>T (p.Arg305Trp)	4361	MRE11	Uncertain significance	372000848	RCV000115925\|RCV000212563\|RCV000627767\|RCV002490781\|RCV003323403;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:CN169374	11	94203741	94203741	NC_000011.9:g.94203741G>A	ClinGen:CA331852,UniProtKB:P49959#VAR_025528	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.895A>T (p.Ile299Phe)	4361	MRE11	Uncertain significance	587782169	RCV000130768\|RCV000757467\|RCV002512543\|RCV003467156;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203759	94203759	NC_000011.9:g.94203759T>A	ClinGen:CA167074	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.888G>T (p.Met296Ile)	4361	MRE11	Uncertain significance	-1	RCV003131607;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203766	94203766	NC_000011.9:g.94203766C>A	-
NM_005591.4(MRE11):c.880A>G (p.Met294Val)	4361	MRE11	Uncertain significance	786202636	RCV000165543\|RCV002228746\|RCV003462178;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203774	94203774	11:g.94203774T>C	ClinGen:CA193648	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.848A>G (p.His283Arg)	4361	MRE11	Uncertain significance	142727857	RCV000342005\|RCV000570707\|RCV000813667;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94203806	94203806	NC_000011.9:g.94203806T>C	ClinGen:CA6235277	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.846-2A>C	4361	MRE11	Likely pathogenic	1591693112	RCV001017845\|RCV003467643;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203810	94203810	11:g.94203810T>G	-
NM_005591.4(MRE11):c.846-12T>C	4361	MRE11	Conflicting interpretations of pathogenicity	587780145	RCV000115924\|RCV002228253\|RCV003114261;	N	MedGen:CN517202\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94203820	94203820	NC_000011.9:g.94203820A>G	ClinGen:CA288187	CN517202 not provided;
NM_005591.4(MRE11):c.845+11T>C	4361	MRE11	Benign/Likely benign	140145979	RCV000160573\|RCV000411280\|RCV002229428;	N	MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94204729	94204729	NC_000011.9:g.94204729A>G	ClinGen:CA299294	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.845+9T>C	4361	MRE11	Likely benign	-1	RCV003120301;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204731	94204731	NC_000011.9:g.94204731A>G	-
NM_005591.4(MRE11):c.835G>C (p.Ala279Pro)	4361	MRE11	Uncertain significance	147383852	RCV000563733\|RCV000688223\|RCV002232658;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94204750	94204750	11:g.94204750C>G	ClinGen:CA382375468	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.822T>C (p.Leu274=)	4361	MRE11	Conflicting interpretations of pathogenicity	137868143	RCV000160572\|RCV000212561\|RCV000396829\|RCV001079572\|RCV001531124;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94204763	94204763	NC_000011.9:g.94204763A>G	ClinGen:CA333738	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.820_821del (p.Leu274fs)	4361	MRE11	Pathogenic/Likely pathogenic	1565228898	RCV000995807\|RCV001201787\|RCV002462251;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94204764	94204765	11:g.94204764_94204765del	-
NM_005591.4(MRE11):c.818C>G (p.Ser273Cys)	4361	MRE11	Uncertain significance	143400546	RCV000115923\|RCV000212562\|RCV000415455\|RCV000524539\|RCV000791444;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|Human Phenotype Ontology:HP:0100615,MONDO:MONDO:0021068,MeSH:D010051,MedGen:C0919267,OMIM:167000\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO	11	94204767	94204767	NC_000011.9:g.94204767G>C	ClinGen:CA331849	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.788T>A (p.Ile263Asn)	4361	MRE11	Uncertain significance	764146299	RCV002239136\|RCV002463150\|RCV003471294;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204797	94204797	94204797	-
NM_005591.4(MRE11):c.784del (p.Tyr262fs)	4361	MRE11	Pathogenic/Likely pathogenic	-1	RCV003182373\|RCV003466031;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204801	94204801		-
NM_005591.4(MRE11):c.777G>A (p.Gln259=)	4361	MRE11	Conflicting interpretations of pathogenicity	774144789	RCV000163750\|RCV000524538\|RCV001112689\|RCV003317114;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:CN169374	11	94204808	94204808	11:g.94204808C>T	ClinGen:CA189101	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.775C>T (p.Gln259Ter)	4361	MRE11	Pathogenic/Likely pathogenic	1060501788	RCV001026791\|RCV003467691;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204810	94204810	11:g.94204810G>A	-
NM_005591.4(MRE11):c.771A>G (p.Glu257=)	4361	MRE11	Benign/Likely benign	13447632	RCV000160571\|RCV000212560\|RCV000586751\|RCV001080782\|RCV001112690\|RCV002225463;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	11	94204814	94204814	NC_000011.9:g.94204814T>C	ClinGen:CA333735	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.771del (p.Glu257fs)	4361	MRE11	Likely pathogenic	-1	RCV003470192;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204814	94204814		-
NM_005591.4(MRE11):c.729G>C (p.Trp243Cys)	4361	MRE11	Uncertain significance	587782105	RCV000130619\|RCV001762303\|RCV002505112\|RCV002514732;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94204856	94204856	11:g.94204856C>G	ClinGen:CA166765	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.701del (p.Leu234fs)	4361	MRE11	Likely pathogenic	-1	RCV003470207;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204884	94204884		-
NM_005591.4(MRE11):c.690del (p.Glu231fs)	4361	MRE11	Likely pathogenic	-1	RCV003470200;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204895	94204895		-
NM_005591.4(MRE11):c.689C>T (p.Pro230Leu)	4361	MRE11	Conflicting interpretations of pathogenicity	185439615	RCV000165843\|RCV000524535\|RCV003462189;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204896	94204896	11:g.94204896G>A	ClinGen:CA333893	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.673A>G (p.Ser225Gly)	4361	MRE11	Uncertain significance	763790530	RCV000575432\|RCV003459286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204912	94204912	11:g.94204912T>C	ClinGen:CA226531638	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.671G>A (p.Gly224Glu)	4361	MRE11	Uncertain significance	749446968	RCV001025574\|RCV001038933\|RCV003461408;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204914	94204914	11:g.94204914C>T	-
NM_005591.4(MRE11):c.660-6A>G	4361	MRE11	Likely benign	1946722633	RCV001348862\|RCV003120577;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94204931	94204931	94204931	-
NC_000011.10:g.(?_94476279)_(94479771_?)del	4361	MRE11	Likely pathogenic	-1	RCV000707895\|RCV001378464;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94209445	94212937		-	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NC_000011.9:g.(?_94209449)_(94212048_?)dup	4361	MRE11	Likely pathogenic	-1	RCV000528294\|RCV001379841;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94209449	94212048	-1	-
NM_005591.4(MRE11):c.659+1G>A	4361	MRE11	Pathogenic/Likely pathogenic	759130031	RCV000217276\|RCV000410656\|RCV000812799\|RCV003401135;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|	11	94209454	94209454	11:g.94209454C>T	ClinGen:CA6235344	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.640T>C (p.Phe214Leu)	4361	MRE11	Uncertain significance	750929369	RCV000166584\|RCV000524534\|RCV001201366;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94209474	94209474	11:g.94209474A>G	ClinGen:CA333908	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.630G>C (p.Trp210Cys)	4361	MRE11	Pathogenic/Likely pathogenic	137852763	RCV000009331\|RCV000712327;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:CN517202	11	94209484	94209484	11:g.94209484C>G	ClinGen:CA119930,OMIM:600814.0005	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.585T>C (p.Asn195=)	4361	MRE11	Conflicting interpretations of pathogenicity	886048760	RCV000302157\|RCV002461067;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94209529	94209529	NC_000011.9:g.94209529A>G	ClinGen:CA10635935	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.571C>T (p.Arg191Ter)	4361	MRE11	Pathogenic/Likely pathogenic	1157413766	RCV001024452\|RCV001037663\|RCV001554263\|RCV003221309;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|Human Phenotype Ontology:HP:0030409,MedGen:C1319314\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94209543	94209543	11:g.94209543G>A	-
NM_005591.4(MRE11):c.545-1G>A	4361	MRE11	Likely pathogenic	1451215042	RCV000566346\|RCV000992330\|RCV003459355;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94209570	94209570	11:g.94209570C>T	ClinGen:CA382377052	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.545-13A>G	4361	MRE11	Uncertain significance	370306271	RCV000366150\|RCV002520777;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94209582	94209582	11:g.94209582T>C	ClinGen:CA6235360	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.544G>A (p.Gly182Arg)	4361	MRE11	Uncertain significance	1446077946	RCV002239147\|RCV002463153\|RCV003471295;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94211901	94211901	94211901	-
NM_005591.4(MRE11):c.535T>C (p.Tyr179His)	4361	MRE11	Uncertain significance	864622308	RCV000204139\|RCV001316325\|RCV003462373;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94211910	94211910	11:g.94211910A>G	ClinGen:CA348382	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.529G>A (p.Ala177Thr)	4361	MRE11	Conflicting interpretations of pathogenicity	142996063	RCV000115919\|RCV000212559\|RCV000400887\|RCV000656867\|RCV000791435;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94211916	94211916	NC_000011.9:g.94211916C>T	ClinGen:CA331846	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.504_511del (p.Leu169fs)	4361	MRE11	Pathogenic/Likely pathogenic	786202253	RCV000164971\|RCV001059474\|RCV003468726;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94211934	94211941	11:g.94211934_94211941del	ClinGen:CA192198	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.508C>A (p.Gln170Lys)	4361	MRE11	Uncertain significance	587782030	RCV000308108\|RCV000572619;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94211937	94211937	11:g.94211937G>T	ClinGen:CA6235382	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.497C>T (p.Pro166Leu)	4361	MRE11	Uncertain significance	587782308	RCV000131199\|RCV002228657\|RCV003467168;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94211948	94211948	11:g.94211948G>A	ClinGen:CA167765,ClinVar:424787	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.485T>C (p.Ile162Thr)	4361	MRE11	Uncertain significance	150656288	RCV000167314\|RCV001059451\|RCV003468807;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94211960	94211960	11:g.94211960A>G	ClinGen:CA197993	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.476T>C (p.Val159Ala)	4361	MRE11	Uncertain significance	140130291	RCV000200393\|RCV000684800\|RCV000992329\|RCV001194169\|RCV003129803;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94211969	94211969	11:g.94211969A>G	ClinGen:CA339288	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.470T>C (p.Met157Thr)	4361	MRE11	Uncertain significance	1591707134	RCV001022937\|RCV003467669;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94211975	94211975	11:g.94211975A>G	-
NM_005591.4(MRE11):c.469A>G (p.Met157Val)	4361	MRE11	Conflicting interpretations of pathogenicity	147771140	RCV000131610\|RCV000524533\|RCV001114036\|RCV001030700;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	94211976	94211976	11:g.94211976T>C	ClinGen:CA333266,UniProtKB:P49959#VAR_011626	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.463C>T (p.Arg155Cys)	4361	MRE11	Uncertain significance	587782512	RCV000131662\|RCV000700255\|RCV001030701\|RCV002509243\|RCV003467181;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251	11	94211982	94211982	11:g.94211982G>A	ClinGen:CA168558	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.426C>T (p.Asp142=)	4361	MRE11	Conflicting interpretations of pathogenicity	3218740	RCV000160570\|RCV000212554\|RCV000362540\|RCV000755569\|RCV001079573;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94212019	94212019	NC_000011.9:g.94212019G>A	ClinGen:CA333732	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.403-2A>T	4361	MRE11	Pathogenic/Likely pathogenic	2135086294	RCV001784675\|RCV003163922;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94212044	94212044	94212044	-
NM_005591.4(MRE11):c.403-6G>A	4361	MRE11	Benign	535801	RCV000117634\|RCV000277270\|RCV000590098\|RCV001081363\|RCV002225342;	N	MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145	11	94212048	94212048	11:g.94212048C>T	ClinGen:CA153722	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.402+1G>A	4361	MRE11	Likely pathogenic	929767929	RCV001021683\|RCV002549542\|RCV003467663;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212839	94212839	11:g.94212839C>T	-
NM_005591.4(MRE11):c.394C>T (p.Pro132Ser)	4361	MRE11	Uncertain significance	777373591	RCV000569936\|RCV002231526\|RCV003465198;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212848	94212848	11:g.94212848G>A	ClinGen:CA6235406	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.391G>A (p.Asp131Asn)	4361	MRE11	Uncertain significance	368403414	RCV000130877\|RCV000642460\|RCV000781547\|RCV000994699\|RCV001292914;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212851	94212851	11:g.94212851C>T	ClinGen:CA167297	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.377A>G (p.His126Arg)	4361	MRE11	Uncertain significance	-1	RCV003132680;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212865	94212865	NC_000011.9:g.94212865T>C	-
NM_005591.4(MRE11):c.364G>C (p.Val122Leu)	4361	MRE11	Uncertain significance	876658586	RCV000220959\|RCV003133188;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212878	94212878	11:g.94212878C>G	ClinGen:CA10579411	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.358A>G (p.Ile120Val)	4361	MRE11	Uncertain significance	372131911	RCV000166004\|RCV000524532\|RCV003114317\|RCV003468767;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212884	94212884	11:g.94212884T>C	ClinGen:CA194747	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)	4361	MRE11	Conflicting interpretations of pathogenicity	137852760	RCV000009328\|RCV000115917\|RCV000212557\|RCV001034646;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94212892	94212892	11:g.94212892T>C	ClinGen:CA119921,UniProtKB:P49959#VAR_008513,OMIM:600814.0002	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.330del (p.Tyr111fs)	4361	MRE11	Likely pathogenic	-1	RCV003470205;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212912	94212912		-
NM_005591.4(MRE11):c.323G>A (p.Trp108Ter)	4361	MRE11	Likely pathogenic	-1	RCV003470194;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212919	94212919		-
NM_005591.4(MRE11):c.315-1G>A	4361	MRE11	Likely pathogenic	-1	RCV002584707\|RCV003465969;	N	MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212928	94212928	NC_000011.9:g.94212928C>T	-
NM_005591.4(MRE11):c.315-2A>G	4361	MRE11	Likely pathogenic	876659145	RCV000215862\|RCV002222449\|RCV002262810\|RCV003469030;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94212929	94212929	11:g.94212929T>C	ClinGen:CA10579416	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.315-14dup	4361	MRE11	Benign/Likely benign	35062043	RCV000162501\|RCV000410959\|RCV000588749\|RCV001081372\|RCV001288239;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374	11	94212930	94212931	11:g.94212930_94212931insA	ClinGen:CA333820	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.315-4del	4361	MRE11	Benign/Likely benign	35062043	RCV000128995\|RCV000411119\|RCV000589770\|RCV001084852;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94212931	94212931	11:g.94212931_94212931del	ClinGen:CA163625	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.314+4_314+7del	4361	MRE11	Conflicting interpretations of pathogenicity	-1	RCV001018789\|RCV002236212\|RCV003396605\|RCV003467651;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219083	94219086		-
NM_005591.4(MRE11):c.314+6T>C	4361	MRE11	Uncertain significance	864622413	RCV000205309\|RCV000408997\|RCV001296095\|RCV003230450\|RCV003237767;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374\|MedGen:C3661900	11	94219084	94219084	11:g.94219084A>G	ClinGen:CA349468	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.314+1G>T	4361	MRE11	Likely pathogenic	-1	RCV003461880;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219089	94219089		-
NM_005591.4(MRE11):c.311G>C (p.Ser104Thr)	4361	MRE11	Uncertain significance	587780140	RCV000115916\|RCV000212556\|RCV000684797\|RCV003129778;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219093	94219093	NC_000011.9:g.94219093C>G	ClinGen:CA288177	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.309T>G (p.Phe103Leu)	4361	MRE11	Uncertain significance	-1	RCV003131609;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219095	94219095	NC_000011.9:g.94219095A>C	-
NM_005591.4(MRE11):c.286G>C (p.Asp96His)	4361	MRE11	Uncertain significance	-1	RCV003470198;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219118	94219118		-
NM_005591.4(MRE11):c.274G>A (p.Glu92Lys)	4361	MRE11	Uncertain significance	587780139	RCV000115915\|RCV000656866\|RCV000684785\|RCV000791353;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94219130	94219130	11:g.94219130C>T	ClinGen:CA288174	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.259C>T (p.Arg87Trp)	4361	MRE11	Uncertain significance	758112386	RCV000165051\|RCV000524530\|RCV002472955\|RCV003468730;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219145	94219145	11:g.94219145G>A	ClinGen:CA192395	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.256G>A (p.Asp86Asn)	4361	MRE11	Uncertain significance	763902512	RCV000570518\|RCV000642444\|RCV002225667\|RCV003470820;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219148	94219148	NC_000011.9:g.94219148C>T	ClinGen:CA6235434	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.250A>G (p.Met84Val)	4361	MRE11	Uncertain significance	786203222	RCV000166439\|RCV000992327\|RCV001035150\|RCV003468783;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219154	94219154	11:g.94219154T>C	ClinGen:CA195876	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.244T>C (p.Tyr82His)	4361	MRE11	Uncertain significance	587781343	RCV000129120\|RCV001339593\|RCV003460888;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219160	94219160	11:g.94219160A>G	ClinGen:CA163828	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.233T>G (p.Leu78Ter)	4361	MRE11	Likely pathogenic	-1	RCV003476512;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219171	94219171		-
NM_005591.4(MRE11):c.229G>T (p.Glu77Ter)	4361	MRE11	Conflicting interpretations of pathogenicity	779269083	RCV000210166\|RCV002229537\|RCV003468973;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219175	94219175	11:g.94219175C>A	ClinGen:CA351220	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.218A>G (p.His73Arg)	4361	MRE11	Uncertain significance	769313864	RCV000165886\|RCV001114037\|RCV001315516\|RCV002291580;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900	11	94219186	94219186	11:g.94219186T>C	ClinGen:CA194438	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.193A>G (p.Asn65Asp)	4361	MRE11	not provided	1947135355	RCV001249418;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94219211	94219211	11:g.94219211T>C	-
NM_005591.4(MRE11):c.154-11C>G	4361	MRE11	Conflicting interpretations of pathogenicity	751354326	RCV001114038\|RCV002558136;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94219261	94219261	11:g.94219261G>C	-
NM_005591.4(MRE11):c.140C>T (p.Ala47Val)	4361	MRE11	Uncertain significance	730880378	RCV000157663\|RCV001011397\|RCV002229382;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94224012	94224012	11:g.94224012G>A	ClinGen:CA185954,OMIM:600814.0006	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.123T>G (p.Asp41Glu)	4361	MRE11	Uncertain significance	1398118094	RCV001010518\|RCV001292974;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94224029	94224029	11:g.94224029A>C	-
NM_005591.4(MRE11):c.121G>A (p.Asp41Asn)	4361	MRE11	Benign/Likely benign	116679717	RCV000115904\|RCV000212553\|RCV000313574\|RCV000858639\|RCV001704015\|RCV002225330;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	11	94224031	94224031	NC_000011.9:g.94224031C>T	ClinGen:CA331830	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.120C>T (p.Leu40=)	4361	MRE11	Conflicting interpretations of pathogenicity	1805364	RCV000160575\|RCV000212552\|RCV000524512\|RCV000857671\|RCV001080131;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94224032	94224032	NC_000011.9:g.94224032G>A	ClinGen:CA333744	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.112G>T (p.Val38Leu)	4361	MRE11	Uncertain significance	786202896	RCV000165955\|RCV000806347\|RCV003468764;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94224040	94224040	11:g.94224040C>A	ClinGen:CA194640	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.106A>G (p.Thr36Ala)	4361	MRE11	Uncertain significance	774330292	RCV000165274\|RCV000687085\|RCV003468737;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94224046	94224046	11:g.94224046T>C	ClinGen:CA192942	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.77T>C (p.Met26Thr)	4361	MRE11	Conflicting interpretations of pathogenicity	372068015	RCV000160576\|RCV000684815\|RCV000761799\|RCV001034631\|RCV003317108;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MedGen:CN169374	11	94224075	94224075	NC_000011.9:g.94224075A>G	ClinGen:CA299295	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.73T>C (p.Phe25Leu)	4361	MRE11	Uncertain significance	145218439	RCV000567785\|RCV002231613\|RCV003465236;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94224079	94224079	NC_000011.9:g.94224079A>G	ClinGen:CA226544661	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.21-6_26del	4361	MRE11	Conflicting interpretations of pathogenicity	587780138	RCV000115914\|RCV000778135\|RCV001043632;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94224126	94224137	NC_000011.9:g.94224127_94224138del	ClinGen:CA288173	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.20+28G>A	4361	MRE11	Benign	497763	RCV000252025\|RCV001689856\|RCV002225565\|RCV003316428;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94225920	94225920	NC_000011.9:g.94225920C>T	ClinGen:CA6235511	CN169374 not specified;
NM_005591.4(MRE11):c.20+8C>A	4361	MRE11	Conflicting interpretations of pathogenicity	766581183	RCV000642466\|RCV002233077;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0011457,MedGen:C1858391,OMIM:PS604391	11	94225940	94225940	11:g.94225940G>T	ClinGen:CA6235513	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.20+3A>G	4361	MRE11	Uncertain significance	-1	RCV003470212;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94225945	94225945		-
NM_005591.4(MRE11):c.19C>G (p.Leu7Val)	4361	MRE11	Uncertain significance	73517551	RCV000568582\|RCV001110005;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94225949	94225949	11:g.94225949G>C	ClinGen:CA6235517	C0027672 Hereditary cancer-predisposing syndrome;
NM_005591.4(MRE11):c.18A>T (p.Ala6=)	4361	MRE11	Conflicting interpretations of pathogenicity	758314845	RCV000368218\|RCV000575761;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	11	94225950	94225950	11:g.94225950T>A	ClinGen:CA6235518	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.-42G>A	4361	MRE11	Uncertain significance	199805088	RCV001110006;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94226009	94226009	11:g.94226009C>T	-
NM_005591.4(MRE11):c.-95A>G	4361	MRE11	Conflicting interpretations of pathogenicity	191426010	RCV000160569\|RCV001110007;	N	MedGen:CN169374\|MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94226062	94226062	NC_000011.9:g.94226062T>C	ClinGen:CA299293	CN169374 not specified;
NM_005591.4(MRE11):c.-106+11A>G	4361	MRE11	Uncertain significance	1947359703	RCV001110008;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94226946	94226946	11:g.94226946T>C	-
NM_005591.4(MRE11):c.-106+8C>T	4361	MRE11	Uncertain significance	886048761	RCV000273871;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94226949	94226949	11:g.94226949G>A	ClinGen:CA10635938	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.4(MRE11):c.-106+5G>A	4361	MRE11	Benign	1805363	RCV000319622\|RCV001660605;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900	11	94226952	94226952	11:g.94226952C>T	ClinGen:CA10640517	C1858391 604391 Ataxia-telangiectasia-like disorder 1;
NM_005591.3(MRE11):c.-174T>C	4361	MRE11	Uncertain significance	36225299	RCV001110787;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347	11	94227025	94227025	11:g.94227025A>G	-
NM_005591.3(MRE11):c.-178G>A	4361	MRE11	Benign	1805360	RCV000374171\|RCV001612969;	N	MONDO:MONDO:0024557,MedGen:C4012790,OMIM:604391, Orphanet:251347\|MedGen:C3661900	11	94227029	94227029	11:g.94227029C>T	ClinGen:CA10639705	C1858391 604391 Ataxia-telangiectasia-like disorder 1;

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