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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: Anemia, Hypoplastic, Congenital (D029502)
Parent Node: DNA Repair-Deficiency Disorders (D049914)
..Starting node ..Fanconi Anemia (D005199)
Child Nodes:
........Estren-Dameshek Variant of Fanconi Anemia (C565572)
........Estren-Dameshek Variant of Fanconi Pancytopenia (C565573)
........Fanconi Anemia, Complementation Group B (C564497)
........FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
........Fanconi Anemia, Complementation Group D1 (C563980)
........FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
........FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
........FANCONI ANEMIA, COMPLEMENTATION GROUP F (OMIM:603467)
........FANCONI ANEMIA, COMPLEMENTATION GROUP G (OMIM:614082)
........Fanconi Anemia, Complementation Group I (C563802)
........Fanconi Anemia, Complementation Group J (C563801)
........FANCONI ANEMIA, COMPLEMENTATION GROUP L (OMIM:614083)
........Fanconi Anemia, Complementation Group N (C563657)
........FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
........FANCONI ANEMIA, COMPLEMENTATION GROUP P (OMIM:613951)
........FANCONI ANEMIA, COMPLEMENTATION GROUP Q (OMIM:615272)
........FANCONI ANEMIA, COMPLEMENTATION GROUP R (OMIM:617244)
........FANCONI ANEMIA, COMPLEMENTATION GROUP T (OMIM:616435)
........FANCONI ANEMIA, COMPLEMENTATION GROUP U (OMIM:617247)
........FANCONI ANEMIA, COMPLEMENTATION GROUP V (OMIM:617243)
........Milner Khallouf Gibson syndrome (C537473)
Sister Nodes:
..Ataxia Telangiectasia (D001260) 6
..Bloom Syndrome (D001816)
..Cockayne Syndrome (D003057) 6
..Colorectal Neoplasms, Hereditary Nonpolyposis (D003123) 10
..Fanconi Anemia (D005199) 13
..IMMUNODEFICIENCY 54 (OMIM:609981)
..Li-Fraumeni Syndrome (D016864) 4
..N syndrome (C536108)
..Nijmegen Breakage Syndrome (D049932) 1
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Rothmund-Thomson Syndrome (D011038) 5
..Severe Combined Immunodeficiency (D016511) 22 C:1
..Werner Syndrome (D014898) 1
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4613

Name:

Fanconi Anemia

Definition:

Congenital disorder affecting all bone marrow elements, resulting in ANEMIA; LEUKOPENIA; and THROMBOPENIA, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes. Spontaneous CHROMOSOME BREAKAGE is a feature of this disease along with predisposition to LEUKEMIA. There are at least 7 complementation groups in Fanconi anemia: FANCA, FANCB, FANCC, FANCD1, FANCD2, FANCE, FANCF, FANCG, and FANCL. (from Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=227650, August 20, 2004)

Alternative IDs:

DO:DOID:13636|OMIM:227650

ParentIDs:

MESH:D029502|MESH:D049914

TreeNumbers:

C15.378.071.085.080.280 |C15.378.190.196.080.280 |C16.320.077.280 |C18.452.284.280

Synonyms:

Slim Mappings:

Blood disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: D005199
MeSH: D005199
OMIM: 227650;
MSeqDR :
Genes: FANCA; SLC12A3;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001627	Abnormal heart morphology
3	HP:0030680	Abnormality of cardiovascular system morphology
4	HP:0001000	Abnormality of skin pigmentation
5	HP:0003974	Absent radius
6	HP:0009777	Absent thumb
7	HP:0001903	Anemia
8	HP:0001017	Anemic pallor
9	HP:0000978	Bruising susceptibility
10	HP:0000957	Cafe-au-lait spot
11	HP:0003221	Chromosomal breakage induced by crosslinking agents
12	HP:0009943	Complete duplication of thumb phalanx
13	HP:0000028	Cryptorchidism
14	HP:0003213	Deficient excision of UV-induced pyrimidine dimers in DNA
15	HP:0000081	Duplicated collecting system
16	HP:0000086	Ectopic kidney
17	HP:0000365	Hearing impairment
18	HP:0000085	Horseshoe kidney
19	HP:0000815	Hypergonadotropic hypogonadism
20	HP:0001249	Intellectual disability
21	HP:0001909	Leukemia
22	HP:0000252	Microcephaly
23	HP:0000568	Microphthalmia
24	HP:0001875	Neutropenia
25	HP:0001876	Pancytopenia
26	HP:0003214	Prolonged G2 phase of cell cycle
27	HP:0000104	Renal agenesis
28	HP:0001896	Reticulocytopenia
29	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
30	HP:0009778	Short thumb
31	HP:0001518	Small for gestational age
32	HP:0000486	Strabismus
33	HP:0001873	Thrombocytopenia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NC_000016.9:g.88172538_88337600del	-1	-	Pathogenic	-1	RCV001256632;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88172538	88337600	-1	-
NC_000016.9:g.88224066_88408991del	-1	-	Pathogenic	-1	RCV001256633;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88224066	88408991	-1	-
NC_000016.9:g.88257445_88409236del	-1	-	Pathogenic	-1	RCV001256634;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88257445	88409236	-1	-
NM_000135.2(FANCA):c.2505-976_(*1050_?)del	-1	-	Pathogenic	-1	RCV001256382;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88285490	88362122	-1	-
NM_000135.2(FANCA):c.1470+801_(*1050_?)del	-1	-	Pathogenic	-1	RCV001256469;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88327695	88377962	-1	-
NM_000135.2(FANCA):c.2852+553_(*1050_?)del	-1	-	Pathogenic	-1	RCV001256280;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88329020	88355305	-1	-
NM_000135.2(FANCA):c.2853-382_*1312del	-1	-	Pathogenic	-1	RCV001256283;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88331201	88352999	-1	-
NM_000135.2(FANCA):c.2981+611_*1153del	-1	-	Pathogenic	-1	RCV001256394;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88331357	88351875	-1	-
NM_000135.2(FANCA):c.1626+1433_3349-564del	-1	-	Pathogenic	-1	RCV001256580;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88341384	88375356	-1	-
NM_000135.2(FANCA):c.2852+734_3067-376del	-1	-	Pathogenic	-1	RCV001256281;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88344194	88355131	-1	-
NM_000135.2(FANCA):c.1006+539_3066+898del	-1	-	Pathogenic	-1	RCV001256561;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88345159	88389286	-1	-
NC_000016.10:g.88322074_88332073del	-1	-	Pathogenic	-1	RCV001256489;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88355680	88365679	-1	-
NM_000135.2(FANCA):c.1901-1154_2779-889del	-1	-	Pathogenic	-1	RCV001256377;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88356841	88368468	-1	-
NM_000135.2(FANCA):c.1827-835_2779-1050del	-1	-	Pathogenic	-1	RCV001256370;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88356984	88370562	-1	-
NM_000135.2(FANCA):c.1716-215_2779-1067del	-1	-	Pathogenic	-1	RCV001256257;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88356998	88373127	-1	-
NM_000135.2(FANCA):c.1626+637_2778+1111del	-1	-	Pathogenic	-1	RCV001256578;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88357692	88376135	-1	-
NM_000135.2(FANCA):c.1626+588_2778+888del	-1	-	Pathogenic	-1	RCV001256577;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88357923	88376192	-1	-
NC_000016.9:g.89839142_89867355del	-1	-	Pathogenic	-1	RCV001256233;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88366653	88394866	-1	-
NC_000016.9:g.89840944_89876535del	-1	-	Pathogenic	-1	RCV001256447;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88368466	88404057	-1	-
NC_000016.9:g.89840966_89866228del	-1	-	Pathogenic	-1	RCV001256234;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88368481	88393743	-1	-
NM_000135.2(FANCA):c.1359+1138_1900+1140del	-1	-	Pathogenic	-1	RCV001256355;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88368519	88384182	-1	-
NM_000135.2(FANCA):c.1006+727_1626+1288del	-1	-	Pathogenic	-1	RCV001256562;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88375502	88389110	-1	-
NC_000016.9:g.89857046_89867362del	-1	-	Pathogenic	-1	RCV001256232;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88384547	88394863	-1	-
NC_000016.9:g.89863188_89878500del	-1	-	Pathogenic	-1	RCV001256328;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88390697	88406009	-1	-
NM_007294.4(BRCA1):c.594_597delTGTG	672	BRCA1	Pathogenic/Likely pathogenic	797045175	RCV000191042\|RCV000258289\|RCV000585825\|RCV001024704;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0011450,MedGen:C2676676,OMIM:604370, Orphanet:145\|MONDO:MONDO:0054748,MedGen:C4554406,OMIM:617883\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	17	41247936	41247939	NC_000017.10:g.41247937_41247940del	ClinGen:CA276117,OMIM:113705.0041	C2676676 604370 Breast-ovarian cancer, familial 1;
GRCh37/hg19 16q24.3(chr16:89620873-89881041)	2175	FANCA	Pathogenic	-1	RCV001535965;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89620873	89881041	-1	-
NC_000016.9:g.89645037_89810099del	2175	FANCA	Uncertain significance	-1	RCV001256631;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89645037	89810099	-1	-
NC_000016.10:g.(?_89737551)_(89740100_89740803)del	2175	FANCA	Uncertain significance	-1	RCV001256527;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89807211	-1	-
NC_000016.10:g.(?_89737551)_(89740867_89742799)del	2175	FANCA	Pathogenic	-1	RCV001256521;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89809207	-1	-
NC_000016.10:g.(?_89737551)_(89752222_89758576)del	2175	FANCA	Pathogenic	-1	RCV001256399;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89824984	-1	-
NC_000016.10:g.(?_89737551)_(89752223_89758576)del	2175	FANCA	Pathogenic	-1	RCV001256400;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89824984	-1	-
NC_000016.10:g.(?_89737551)_(89758706_89761948)del	2175	FANCA	Uncertain significance	-1	RCV001256390;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89828356	-1	-
NC_000016.10:g.(?_89737551)_(89765067_89767140)del	2175	FANCA	Pathogenic	-1	RCV001256499;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89833548	-1	-
NC_000016.10:g.(?_89737551)_(89767238_89769836)del	2175	FANCA	Uncertain significance	-1	RCV001256385;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89836244	-1	-
NC_000016.10:g.(?_89737551)_(89784965_89791402)del	2175	FANCA	Pathogenic	-1	RCV001256364;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89857810	-1	-
NC_000016.10:g.(?_89737551)_(89799639_89803258)del	2175	FANCA	Pathogenic	-1	RCV001256346;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89869666	-1	-
NC_000016.10:g.(?_89737551)_(89814614_89815876)del	2175	FANCA	Pathogenic	-1	RCV001256215;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89882284	-1	-
NC_000016.10:g.(?_89737551)_(89815987_89816536)del	2175	FANCA	Uncertain significance	-1	RCV001256536;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89882944	-1	-
NC_000016.10:g.(?_89737551)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256435;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803959	89883065	-1	-
NM_001113525.2(ZNF276):c.1475-217T>C	2175	FANCA	Uncertain significance	886052477	RCV000294543;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803997	89803997	16:g.89803997T>C	ClinGen:CA10649301	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1475-216G>A	2175	FANCA	Benign	17227452	RCV000352248;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89803998	89803998	16:g.89803998G>A	ClinGen:CA10644622	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1475-191C>T	2175	FANCA	Benign	16966023	RCV000398134;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804023	89804023	16:g.89804023C>T	ClinGen:CA10644624	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1475-142T>C	2175	FANCA	Uncertain significance	55794507	RCV000289149;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804072	89804072	16:g.89804072T>C	ClinGen:CA10638679	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1475-56C>T	2175	FANCA	Uncertain significance	886052478	RCV000346420;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804158	89804158	16:g.89804158C>T	ClinGen:CA10649302	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1475-48G>A	2175	FANCA	Uncertain significance	201316239	RCV000398143;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804166	89804166	16:g.89804166G>A	ClinGen:CA8250370	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1475-24A>G	2175	FANCA	Uncertain significance	186050933	RCV000301856;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804190	89804190	16:g.89804190A>G	ClinGen:CA8250381	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1574+17A>C	2175	FANCA	Benign	17233833	RCV000400382;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804330	89804330	NC_000016.9:g.89804330A>C	ClinGen:CA8250426	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1574+23T>C	2175	FANCA	Benign	62704561	RCV000354689;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804336	89804336	NC_000016.9:g.89804336T>C	ClinGen:CA8250436	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1574+24C>G	2175	FANCA	Uncertain significance	17233819	RCV001118332;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804337	89804337	16:g.89804337C>G	-
NM_001113525.2(ZNF276):c.1574+26C>A	2175	FANCA	Benign	17233812	RCV001118333;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804339	89804339	16:g.89804339C>A	-
NM_001113525.2(ZNF276):c.1575-29G>A	2175	FANCA	Likely benign	17227438	RCV000319703;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804355	89804355	NC_000016.9:g.89804355G>A	ClinGen:CA8250447	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1575G>A (p.Gln525=)	2175	FANCA	Uncertain significance	779094661	RCV001118334;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804384	89804384	16:g.89804384G>A	-
NM_001113525.2(ZNF276):c.1679G>A (p.Gly560Asp)	2175	FANCA	Uncertain significance	144644592	RCV000367567;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804488	89804488	NC_000016.9:g.89804488G>A	ClinGen:CA8250478	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1753A>G (p.Lys585Glu)	2175	FANCA	Uncertain significance	771942409	RCV000275252;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804562	89804562	NC_000016.9:g.89804562A>G	ClinGen:CA8250500	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.1815G>C (p.Glu605Asp)	2175	FANCA	Benign	17227424	RCV000332779;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804624	89804624	NC_000016.9:g.89804624G>C	ClinGen:CA8250520	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*38C>T	2175	FANCA	Uncertain significance	201817705	RCV000389634;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804692	89804692	NC_000016.9:g.89804692C>T	ClinGen:CA8250538	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*68C>T	2175	FANCA	Benign	17227417	RCV000288315\|RCV001597087;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89804722	89804722	NC_000016.9:g.89804722C>T	ClinGen:CA10648376	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*69G>A	2175	FANCA	Benign	17233804	RCV000326973;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804723	89804723	NC_000016.9:g.89804723G>A	ClinGen:CA10649305	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*103C>G	2175	FANCA	Benign	17233797	RCV000383919\|RCV001598653;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89804757	89804757	NC_000016.9:g.89804757C>G	ClinGen:CA10638680	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*105C>T	2175	FANCA	Uncertain significance	557319516	RCV001256531;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804759	89804759		-
NM_001113525.2(ZNF276):c.*183C>T	2175	FANCA	Uncertain significance	577149121	RCV001119872;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804837	89804837	16:g.89804837C>T	-
NM_001113525.2(ZNF276):c.*201C>T	2175	FANCA	Benign	1230	RCV000339087\|RCV001712040;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89804855	89804855	NC_000016.9:g.89804855C>T	ClinGen:CA10649307	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*209G>A	2175	FANCA	Uncertain significance	556325258	RCV000397168;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804863	89804863	NC_000016.9:g.89804863G>A	ClinGen:CA10648377	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*211C>G	2175	FANCA	Uncertain significance	575606938	RCV001121852;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804865	89804865	16:g.89804865C>G	-
NM_001113525.2(ZNF276):c.*217A>T	2175	FANCA	Uncertain significance	775549018	RCV001121853;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804871	89804871	16:g.89804871A>T	-
NM_001113525.2(ZNF276):c.*246G>A	2175	FANCA	Uncertain significance	55679217	RCV001121854;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804900	89804900	16:g.89804900G>A	-
NM_001113525.2(ZNF276):c.*251C>T	2175	FANCA	Uncertain significance	55859244	RCV001121855;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804905	89804905	16:g.89804905C>T	-
NM_001113525.2(ZNF276):c.*313T>A	2175	FANCA	Uncertain significance	529748804	RCV001121856;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804967	89804967	16:g.89804967T>A	-
NM_000135.4(FANCA):c.4268_*37del (p.Ala1423_Ter1456delinsXaa)	2175	FANCA	Pathogenic	2062027006	RCV001256528;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89804972	89805109	16:g.89804972_89805070del	-
NM_001113525.2(ZNF276):c.*354G>A	2175	FANCA	Uncertain significance	370357192	RCV000989667;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805008	89805008		-
NM_000135.4(FANCA):c.4332T>G (p.Pro1444=)	2175	FANCA	Benign/Likely benign	149531696	RCV000251371\|RCV000285113\|RCV001094473\|RCV001800620;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89805045	89805045	NC_000016.9:g.89805045A>C	ClinGen:CA8250570	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4331_4332del (p.Pro1444fs)	2175	FANCA	Uncertain significance	1030509993	RCV000674470;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805045	89805046	16:g.89805045_89805046del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4325C>G (p.Ala1442Gly)	2175	FANCA	Conflicting interpretations of pathogenicity	144171225	RCV000692969\|RCV002477566\|RCV003392528;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89805052	89805052	NC_000016.9:g.89805052G>C	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4318C>T (p.Gln1440Ter)	2175	FANCA	Uncertain significance	767234774	RCV000673961\|RCV001360974;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805059	89805059	16:g.89805059G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4316G>C (p.Arg1439Thr)	2175	FANCA	Uncertain significance	587778322	RCV000120958\|RCV000671628\|RCV001214292;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805061	89805061	16:g.89805061C>G	ClinGen:CA159356	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr)	2175	FANCA	Conflicting interpretations of pathogenicity	74977201	RCV000463871\|RCV001292767\|RCV002475905\|RCV002525658;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	89805074	89805074	NC_000016.9:g.89805074C>T	ClinGen:CA8250579	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4302C>T (p.Ala1434=)	2175	FANCA	Conflicting interpretations of pathogenicity	142784426	RCV000342460\|RCV001094242;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805075	89805075	NC_000016.9:g.89805075G>A	ClinGen:CA8250581	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4300G>A (p.Ala1434Thr)	2175	FANCA	Conflicting interpretations of pathogenicity	374984587	RCV001245328\|RCV001578976;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805077	89805077	16:g.89805077C>T	-
NM_000135.4(FANCA):c.4294G>T (p.Val1432Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	769243354	RCV002258494\|RCV002488641;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805083	89805083	89805083	-
NM_000135.4(FANCA):c.4285_4288dup (p.Pro1430fs)	2175	FANCA	Likely pathogenic	2049528619	RCV001256530;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805088	89805089	16:g.89805088_89805089insGGTC	-
NM_000135.4(FANCA):c.4285G>A (p.Asp1429Asn)	2175	FANCA	Conflicting interpretations of pathogenicity	748856769	RCV001115282\|RCV001207580\|RCV002480486;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	16	89805092	89805092	16:g.89805092C>T	-
NM_000135.4(FANCA):c.4275del (p.Asp1427fs)	2175	FANCA	Pathogenic/Likely pathogenic	1598048941	RCV000795080\|RCV001256529;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805102	89805102	16:g.89805102_89805102del	-
NM_000135.4(FANCA):c.4274G>A (p.Arg1425His)	2175	FANCA	Uncertain significance	147406377	RCV000397164\|RCV001859906\|RCV003151026;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374	16	89805103	89805103	NC_000016.9:g.89805103C>T	ClinGen:CA8250592	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4273C>T (p.Arg1425Cys)	2175	FANCA	Uncertain significance	587778321	RCV000120957\|RCV000547555\|RCV000665723;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805104	89805104	16:g.89805104G>A	ClinGen:CA159353	C0015625 Fanconi anemia;
NC_000016.10:g.(89738709_89738881)_(89752223_89758576)del	2175	FANCA	Uncertain significance	-1	RCV001256398;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805117	89824984	-1	-
NM_000135.4(FANCA):c.4261-2A>C	2175	FANCA	Pathogenic	915983602	RCV000656368\|RCV000656370\|RCV001855345;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227	16	89805118	89805118	NC_000016.9:g.89805118T>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4261-2A>G	2175	FANCA	Pathogenic/Likely pathogenic	915983602	RCV001071454\|RCV001256425;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805118	89805118	16:g.89805118T>C	-
NM_001113525.2(ZNF276):c.*465G>C	2175	FANCA	Pathogenic	765478990	RCV001256424;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805119	89805119		-
NM_001113525.2(ZNF276):c.*469G>C	2175	FANCA	Uncertain significance	-1	RCV003444449;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805123	89805123		-
NM_001113525.2(ZNF276):c.*471G>C	2175	FANCA	Conflicting interpretations of pathogenicity	368506826	RCV000559601\|RCV001115283;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805125	89805125	NC_000016.9:g.89805125G>C	ClinGen:CA8250602	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.474_481del	2175	FANCA	Conflicting interpretations of pathogenicity	1567591276	RCV001256423\|RCV002570434;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805128	89805135	16:g.89805128_89805135del	-
NM_001113525.2(ZNF276):c.*607A>G	2175	FANCA	Benign	1800359	RCV000241844\|RCV001537643\|RCV001682955;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89805261	89805261		ClinGen:CA8250655	CN169374 not specified;
NM_001113525.2(ZNF276):c.*630C>G	2175	FANCA	Uncertain significance	374793201	RCV000702432\|RCV002485731;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805284	89805284	NC_000016.9:g.89805284C>G	-	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*630C>A	2175	FANCA	Uncertain significance	374793201	RCV001050409\|RCV002479310;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805284	89805284	16:g.89805284C>A	-
NM_000135.4(FANCA):c.4260+1dup	2175	FANCA	Pathogenic/Likely pathogenic	1555532944	RCV000673494\|RCV001855596;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805288	89805289	16:g.89805288_89805289insC	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4260+2T>A	2175	FANCA	Likely pathogenic	1555532943	RCV000673192;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805288	89805288	16:g.89805288A>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4260+1G>A	2175	FANCA	Likely pathogenic	1060501887	RCV000460272\|RCV000672332;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805289	89805289	NC_000016.9:g.89805289C>T	ClinGen:CA16615435	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4257dup (p.Glu1420fs)	2175	FANCA	Likely pathogenic	1555532946	RCV000670465;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805292	89805293	16:g.89805292_89805293insT	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4258G>T (p.Glu1420Ter)	2175	FANCA	Likely pathogenic	984285795	RCV001844451\|RCV003464156;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805292	89805292	89805292	-
NM_000135.4(FANCA):c.4254_4255delinsC (p.Ala1419fs)	2175	FANCA	Likely pathogenic	-1	RCV003468107;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805295	89805296		-
NM_000135.4(FANCA):c.4252G>A (p.Val1418Met)	2175	FANCA	Likely benign	145148206	RCV000464795\|RCV001274507;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805298	89805298	NC_000016.9:g.89805298C>T	ClinGen:CA8250669	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4251C>T (p.His1417=)	2175	FANCA	Likely benign	752333498	RCV001407293\|RCV002499872;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805299	89805299	89805299	-
NM_000135.4(FANCA):c.4247C>G (p.Ser1416Ter)	2175	FANCA	Pathogenic/Likely pathogenic	940187828	RCV000665549\|RCV001229363;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805303	89805303	16:g.89805303G>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4231_4247del (p.Pro1411fs)	2175	FANCA	Likely pathogenic	-1	RCV003468112;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805303	89805319		-
NM_000135.4(FANCA):c.4244T>G (p.Phe1415Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	201658945	RCV000803393\|RCV001274509;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805306	89805306	16:g.89805306A>C	-
NM_000135.4(FANCA):c.4240_4241del (p.Ser1414fs)	2175	FANCA	Pathogenic	2062043035	RCV001256422\|RCV002568710;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805309	89805310	16:g.89805309_89805310del	-
NM_000135.4(FANCA):c.4233G>A (p.Pro1411=)	2175	FANCA	Likely benign	368985041	RCV000864252\|RCV001280426;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805317	89805317	16:g.89805317C>T	-
NM_000135.4(FANCA):c.4232C>T (p.Pro1411Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	201494304	RCV000669832\|RCV001246136\|RCV001252842\|RCV003153795\|RCV003155269;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phen	16	89805318	89805318	16:g.89805318G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4225C>T (p.Arg1409Trp)	2175	FANCA	Conflicting interpretations of pathogenicity	139478274	RCV000458944\|RCV000765320\|RCV001252734;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|Human Phenotype Ontology:HP:0000252,Human Phenotype Ontology:HP:0001366,Human Phenotype Ontology:HP:0005485,Human Phen	16	89805325	89805325	NC_000016.9:g.89805325G>A	ClinGen:CA8250683	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4218A>T (p.Leu1406Phe)	2175	FANCA	Uncertain significance	752245802	RCV001933035\|RCV002484496;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805332	89805332	89805332	-
NM_000135.4(FANCA):c.4199G>A (p.Arg1400His)	2175	FANCA	Conflicting interpretations of pathogenicity	149851163	RCV000459562\|RCV000779200\|RCV001557545;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89805351	89805351	NC_000016.9:g.89805351C>T	ClinGen:CA8250692
NM_000135.4(FANCA):c.4199G>C (p.Arg1400Pro)	2175	FANCA	Likely pathogenic	149851163	RCV000989668\|RCV001256421\|RCV001858712;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805351	89805351	16:g.89805351C>G	-
NM_000135.4(FANCA):c.4198C>T (p.Arg1400Cys)	2175	FANCA	Pathogenic/Likely pathogenic	745882980	RCV000670597\|RCV000801328;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805352	89805352	NC_000016.9:g.89805352G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4196C>T (p.Ala1399Val)	2175	FANCA	Uncertain significance	1457671800	RCV002282639\|RCV001917627;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805354	89805354	89805354	-
NM_000135.4(FANCA):c.4195G>C (p.Ala1399Pro)	2175	FANCA	Pathogenic	749574677	RCV001256420;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805355	89805355	16:g.89805355C>G	-
NM_000135.4(FANCA):c.4188A>G (p.Ile1396Met)	2175	FANCA	Uncertain significance	1441175300	RCV001296091\|RCV003382501;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805362	89805362	89805362	-
NM_000135.4(FANCA):c.4177G>A (p.Val1393Met)	2175	FANCA	Conflicting interpretations of pathogenicity	199652831	RCV001292617\|RCV001859237;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805373	89805373	89805373	-
NM_000135.4(FANCA):c.4174C>T (p.Pro1392Ser)	2175	FANCA	Uncertain significance	-1	RCV002292262;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805376	89805376	89805376	-
NM_000135.4(FANCA):c.4168-1G>C	2175	FANCA	Pathogenic	2062047006	RCV001256419;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805383	89805383	16:g.89805383C>G	-
NM_000135.4(FANCA):c.4168-2A>G	2175	FANCA	Pathogenic	1220672299	RCV001071425\|RCV001256418;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805384	89805384	16:g.89805384T>C	-
NM_001113525.2(ZNF276):c.*732G>A	2175	FANCA	Conflicting interpretations of pathogenicity	775180524	RCV001331008\|RCV001458991;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805386	89805386	89805386	-
NM_001113525.2(ZNF276):c.*882C>T	2175	FANCA	Uncertain significance	-1	RCV003340698;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805536	89805536		-
NM_001113525.2(ZNF276):c.*883C>T	2175	FANCA	Uncertain significance	370080063	RCV001037102\|RCV001274512;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805537	89805537	16:g.89805537C>T	-
NM_000135.4(FANCA):c.4167+2C>T	2175	FANCA	Uncertain significance	374765708	RCV000672784\|RCV001855582;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805539	89805539	16:g.89805539G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4100_4167+2del	2175	FANCA	Likely pathogenic	-1	RCV003468102;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805539	89805608		-
NM_000135.4(FANCA):c.4167+1G>A	2175	FANCA	Likely pathogenic	-1	RCV003444397;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805540	89805540		-
NM_000135.4(FANCA):c.4167G>T (p.Gln1389His)	2175	FANCA	Uncertain significance	1598051449	RCV000989669;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805541	89805541	16:g.89805541C>A	-
NM_000135.4(FANCA):c.4159A>T (p.Lys1387Ter)	2175	FANCA	Likely pathogenic	-1	RCV003460162;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805549	89805549		-
NM_000135.4(FANCA):c.4145G>C (p.Arg1382Thr)	2175	FANCA	Uncertain significance	367970303	RCV001347204\|RCV002486417;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805563	89805563	89805563	-
NM_000135.4(FANCA):c.4123_4139del (p.Thr1375fs)	2175	FANCA	Pathogenic	2062054591	RCV001256415;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805569	89805585	16:g.89805569_89805585del	-
NM_000135.4(FANCA):c.4133C>T (p.Pro1378Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	760814763	RCV001373469\|RCV002499768;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805575	89805575	89805575	-
NM_000135.4(FANCA):c.4130C>G (p.Ser1377Ter)	2175	FANCA	Pathogenic	199599393	RCV001256416\|RCV001844280;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805578	89805578	16:g.89805578G>C	-
NM_000135.4(FANCA):c.4128T>C (p.Val1376=)	2175	FANCA	Conflicting interpretations of pathogenicity	1209384219	RCV001115285\|RCV001399560;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805580	89805580	16:g.89805580A>G	-
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs)	2175	FANCA	Pathogenic/Likely pathogenic	776969626	RCV000667783\|RCV000731876\|RCV001218261;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805583	89805584	NC_000016.9:g.89805583TG[1]	-
NM_000135.4(FANCA):c.4121G>T (p.Ser1374Ile)	2175	FANCA	Uncertain significance	1254151716	RCV001037983\|RCV001333237;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805587	89805587	16:g.89805587C>A	-
NM_000135.4(FANCA):c.4113G>T (p.Gly1371=)	2175	FANCA	Uncertain significance	1060501882	RCV000468669\|RCV001274513;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805595	89805595	NC_000016.9:g.89805595C>A	ClinGen:CA16615021	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4098G>C (p.Gln1366His)	2175	FANCA	Uncertain significance	1041491550	RCV001293883\|RCV002541820;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805610	89805610	89805610	-
NM_000135.4(FANCA):c.4083_4084insG (p.Leu1362fs)	2175	FANCA	Pathogenic	2062057035	RCV001256414;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805624	89805625	16:g.89805624_89805625insC	-
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs)	2175	FANCA	Pathogenic	747892390	RCV000204633\|RCV000668440;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805626	89805639	NC_000016.9:g.89805626_89805639del	ClinGen:CA348846	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4080G>A (p.Met1360Ile)	2175	FANCA	Uncertain significance	1555533300	RCV000674383;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805628	89805628	16:g.89805628C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4080G>C (p.Met1360Ile)	2175	FANCA	Pathogenic	1555533300	RCV001256309;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805628	89805628	16:g.89805628C>G	-
NM_000135.4(FANCA):c.4075G>T (p.Asp1359Tyr)	2175	FANCA	Uncertain significance	1555533313	RCV000669932;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805633	89805633	16:g.89805633C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4069G>C (p.Ala1357Pro)	2175	FANCA	Pathogenic	1456500627	RCV001256308;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805639	89805639	16:g.89805639C>G	-
NM_000135.4(FANCA):c.4064_4065dup (p.Val1356fs)	2175	FANCA	Pathogenic	2062057713	RCV001256307;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805642	89805643	16:g.89805642_89805643insAT	-
NM_000135.4(FANCA):c.4064A>T (p.His1355Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	145886270	RCV000299065\|RCV001242774\|RCV001731595;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89805644	89805644	NC_000016.9:g.89805644T>A	ClinGen:CA8250797	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs)	2175	FANCA	Likely pathogenic	1567593047	RCV000714899;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805651	89805652	NC_000016.9:g.89805653dup	-
NM_000135.4(FANCA):c.4056C>T (p.Ala1352=)	2175	FANCA	Conflicting interpretations of pathogenicity	2062057880	RCV001118441\|RCV002556516;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805652	89805652	16:g.89805652G>A	-
NM_000135.4(FANCA):c.4053G>C (p.Glu1351Asp)	2175	FANCA	Uncertain significance	1477796994	RCV001118442\|RCV001207614\|RCV003238305;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89805655	89805655	16:g.89805655C>G	-
NM_000135.4(FANCA):c.4037C>T (p.Ala1346Val)	2175	FANCA	Conflicting interpretations of pathogenicity	201886956	RCV001979879\|RCV002507672;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805671	89805671	89805671	-
NM_000135.4(FANCA):c.4036G>A (p.Ala1346Thr)	2175	FANCA	Benign/Likely benign	17227396	RCV000120954\|RCV000356305\|RCV001094347\|RCV001357339;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89805672	89805672	16:g.89805672C>T	ClinGen:CA159346,UniProtKB:O15360#VAR_038020	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4022A>C (p.Tyr1341Ser)	2175	FANCA	Uncertain significance	768733593	RCV001905260\|RCV003470974;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805686	89805686	89805686	-
NM_000135.4(FANCA):c.4017_4021del (p.Ser1340fs)	2175	FANCA	Pathogenic	773113065	RCV001256306;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805687	89805691	16:g.89805687_89805691del	-
NM_000135.4(FANCA):c.4015_4017del (p.Leu1339del)	2175	FANCA	Pathogenic	2062060149	RCV001256305;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805691	89805693	16:g.89805691_89805693del	-
NM_000135.4(FANCA):c.4016T>C (p.Leu1339Pro)	2175	FANCA	Uncertain significance	1219627612	RCV001118443;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805692	89805692	16:g.89805692A>G	-
NM_000135.4(FANCA):c.4015C>T (p.Leu1339Phe)	2175	FANCA	Conflicting interpretations of pathogenicity	149775657	RCV000120953\|RCV000666660\|RCV000824570;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805693	89805693	NC_000016.9:g.89805693G>A	ClinGen:CA159343	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.4015del (p.Leu1339fs)	2175	FANCA	Pathogenic/Likely pathogenic	762902309	RCV000190642\|RCV001043860\|RCV003325465;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89805693	89805693	16:g.89805693_89805693del	ClinGen:CA276031	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.(89739290_89739477)_(89783103_89784853)del	2175	FANCA	Pathogenic	-1	RCV001256570;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805698	89851261	-1	-
NC_000016.10:g.(89739290_89739477)_(89811072_89814519)del	2175	FANCA	Uncertain significance	-1	RCV001256335;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805698	89880927	-1	-
NM_000135.4(FANCA):c.4011-3_4011-2del	2175	FANCA	Likely pathogenic	911481295	RCV001523812;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805699	89805700	89805698	-
NM_000135.4(FANCA):c.4010+1_4010+18del	2175	FANCA	Pathogenic/Likely pathogenic	752457319	RCV000706464\|RCV001256303\|RCV003238194;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89805868	89805885	NC_000016.9:g.89805869_89805886del	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4010_4010+18del	2175	FANCA	Pathogenic	2062066871	RCV001256301;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805868	89805886	16:g.89805868_89805886del	-
NM_001113525.2(ZNF276):c.*1220G>A	2175	FANCA	Uncertain significance	1445940471	RCV001118444;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805874	89805874	16:g.89805874G>A	-
NM_000135.4(FANCA):c.4010+2T>C	2175	FANCA	Pathogenic/Likely pathogenic	2062067746	RCV001256304\|RCV002250738;	N	MedGen:CN517202\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805884	89805884	16:g.89805884A>G	-
NM_000135.4(FANCA):c.4010+1G>A	2175	FANCA	Likely pathogenic	2062067810	RCV001256302;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805885	89805885	16:g.89805885C>T	-
NM_000135.4(FANCA):c.4010G>A (p.Ser1337Asn)	2175	FANCA	Uncertain significance	2062067864	RCV001256300;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805886	89805886	16:g.89805886C>T	-
NM_000135.4(FANCA):c.4009A>G (p.Ser1337Gly)	2175	FANCA	Pathogenic	1268944859	RCV001256299;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805887	89805887	16:g.89805887T>C	-
NM_000135.4(FANCA):c.3999C>T (p.Phe1333=)	2175	FANCA	Conflicting interpretations of pathogenicity	774576283	RCV000399971\|RCV001424627;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805897	89805897	NC_000016.9:g.89805897G>A	ClinGen:CA8250843	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3989_3994del (p.Leu1330_Leu1331del)	2175	FANCA	Uncertain significance	1555533593	RCV000669083;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805902	89805907	16:g.89805902_89805907del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3982A>G (p.Thr1328Ala)	2175	FANCA	Benign	9282681	RCV000120951\|RCV000311773\|RCV001094348\|RCV001705889;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89805914	89805914	16:g.89805914T>C	UniProtKB:O15360#VAR_009657,ClinGen:CA159337	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3981C>T (p.His1327=)	2175	FANCA	Conflicting interpretations of pathogenicity	141278771	RCV000198364\|RCV001118445\|RCV001818475\|RCV003430755;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	16	89805915	89805915	16:g.89805915G>A	ClinGen:CA337861	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3973G>C (p.Asp1325His)	2175	FANCA	Pathogenic	2062069547	RCV001256629;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805923	89805923	16:g.89805923C>G	-
NM_000135.4(FANCA):c.3973del (p.Asp1325fs)	2175	FANCA	Pathogenic/Likely pathogenic	2151712879	RCV001910557\|RCV003471059;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805923	89805923	89805922	-
NM_000135.4(FANCA):c.3971C>T (p.Pro1324Leu)	2175	FANCA	Pathogenic/Likely pathogenic	182657062	RCV000494388\|RCV000666624\|RCV001219227;	N	MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805925	89805925	NC_000016.9:g.89805925G>A	ClinGen:CA8250847
NM_000135.4(FANCA):c.3962G>A (p.Arg1321His)	2175	FANCA	Conflicting interpretations of pathogenicity	374649848	RCV000545703\|RCV000765321\|RCV002476091;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89805934	89805934	16:g.89805934C>T	ClinGen:CA8250848	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3953TCC[2] (p.Leu1320del)	2175	FANCA	Uncertain significance	927201841	RCV000664816\|RCV000815813\|RCV001816666;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374	16	89805935	89805937	NC_000016.9:g.89805936GAG[2]	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3961C>T (p.Arg1321Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	755375493	RCV000814285\|RCV001274551;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805935	89805935	16:g.89805935G>A	-
NM_000135.4(FANCA):c.3955dup (p.Leu1319fs)	2175	FANCA	Likely pathogenic	-1	RCV003460153;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805940	89805941		-
NM_000135.4(FANCA):c.3950G>A (p.Arg1317Gln)	2175	FANCA	Conflicting interpretations of pathogenicity	376523966	RCV000368836\|RCV001094402\|RCV001820952;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89805946	89805946	NC_000016.9:g.89805946C>T	ClinGen:CA8250852	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3949C>T (p.Arg1317Trp)	2175	FANCA	Uncertain significance	200215131	RCV000461751\|RCV001578975;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805947	89805947	NC_000016.9:g.89805947G>A	ClinGen:CA8250853	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3937del (p.Leu1313fs)	2175	FANCA	Likely pathogenic	-1	RCV003468100;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89805959	89805959		-
NM_000135.4(FANCA):c.3935-1G>T	2175	FANCA	Pathogenic/Likely pathogenic	1555533693	RCV000671768\|RCV001383939;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805962	89805962	16:g.89805962C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_001113525.2(ZNF276):c.*1313A>G	2175	FANCA	Conflicting interpretations of pathogenicity	368376237	RCV000276761\|RCV001094403\|RCV001508799\|RCV001820953;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MedGen:CN169374	16	89805967	89805967	NC_000016.9:g.89805967A>G	ClinGen:CA8250856	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*1314C>T	2175	FANCA	Likely benign	2062071481	RCV001255871\|RCV001471055;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89805968	89805968	16:g.89805968C>T	-
NM_001113525.2(ZNF276):c.*1316C>T	2175	FANCA	Benign/Likely benign	9282680	RCV000229459\|RCV001094404\|RCV001565956\|RCV002478832;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374	16	89805970	89805970	16:g.89805970C>T	ClinGen:CA8250857	C0015625 Fanconi anemia;
NM_001113525.2(ZNF276):c.*1323G>A	2175	FANCA	Benign	1061646	RCV000242351\|RCV001510313\|RCV001537644\|RCV001618365;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89805977	89805977	NC_000016.9:g.89805977G>A	ClinGen:CA8250858	CN169374 not specified;
NM_001113525.2(ZNF276):c.*1674G>C	2175	FANCA	Likely benign	56216970	RCV000122399\|RCV000664586;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806328	89806328		ClinGen:CA162996	C3469521 227650 Fanconi anemia, complementation group A;
NM_001113525.2(ZNF276):c.*1693A>T	2175	FANCA	Benign	7195906	RCV000122401\|RCV001537680\|RCV001668279;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89806347	89806347		ClinGen:CA162998	CN169374 not specified;
NM_000135.4(FANCA):c.3934+1_3934+18del	2175	FANCA	Uncertain significance	2062086999	RCV001256628;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806384	89806401	16:g.89806384_89806401del	-
NM_000135.4(FANCA):c.3934+2T>C	2175	FANCA	Pathogenic/Likely pathogenic	771775516	RCV000669249;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806400	89806400	16:g.89806400A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3934+1G>A	2175	FANCA	Uncertain significance	2062087795	RCV001256627;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806401	89806401	16:g.89806401C>T	-
NM_000135.4(FANCA):c.3931_3932del (p.Glu1310_Ser1311insTer)	2175	FANCA	Pathogenic	1403231932	RCV001783248\|RCV001868846;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89806404	89806405	89806403	-
NM_000135.4(FANCA):c.3929_3932del (p.Glu1310fs)	2175	FANCA	Pathogenic/Likely pathogenic	-1	RCV002975486\|RCV003465875;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806404	89806407	NC_000016.9:g.89806404CT[1]	-
NM_000135.4(FANCA):c.3926_3929del (p.Thr1309fs)	2175	FANCA	Pathogenic	2062087915	RCV001256626;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806407	89806410	16:g.89806407_89806410del	-
NM_000135.4(FANCA):c.3919_3923dup (p.Leu1308fs)	2175	FANCA	Pathogenic/Likely pathogenic	2151714613	RCV001993361\|RCV003471123;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806412	89806413	89806412	-
NM_000135.4(FANCA):c.3920del (p.Gln1307fs)	2175	FANCA	Pathogenic	1228394297	RCV001256625\|RCV001390093;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89806416	89806416	16:g.89806416_89806416del	-
NM_000135.4(FANCA):c.3918dup (p.Gln1307fs)	2175	FANCA	Pathogenic	1281446470	RCV001064494\|RCV001256624;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806417	89806418	16:g.89806417_89806418insA	-
NM_000135.4(FANCA):c.3917_3918del (p.Phe1306fs)	2175	FANCA	Pathogenic	1281446470	RCV001256623;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806418	89806419	16:g.89806418_89806419del	-
NM_000135.4(FANCA):c.3915_3916del (p.Phe1306fs)	2175	FANCA	Pathogenic	748453841	RCV001041985\|RCV003461457;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806420	89806421	16:g.89806420_89806421del	-
NM_000135.4(FANCA):c.3913C>T (p.Leu1305Phe)	2175	FANCA	Pathogenic/Likely pathogenic	753700179	RCV000672199\|RCV001222479;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89806423	89806423	16:g.89806423G>A	OMIM:607139.0015	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3904T>C (p.Trp1302Arg)	2175	FANCA	Uncertain significance	878853665	RCV000226672\|RCV001256622;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806432	89806432	16:g.89806432A>G	ClinGen:CA10583435,UniProtKB:O15360#VAR_009656	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3901T>A (p.Ser1301Thr)	2175	FANCA	Uncertain significance	765162125	RCV000362805\|RCV001094405\|RCV002271490\|RCV003237825;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:CN517202	16	89806435	89806435	NC_000016.9:g.89806435A>T	ClinGen:CA8250917	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3900_3901del (p.Ser1301fs)	2175	FANCA	Likely pathogenic	-1	RCV003468093;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806435	89806436		-
NM_000135.4(FANCA):c.3898A>G (p.Ile1300Val)	2175	FANCA	Uncertain significance	1232415717	RCV001909978\|RCV002291785;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806438	89806438	89806438	-
NM_000135.4(FANCA):c.3891G>A (p.Lys1297=)	2175	FANCA	Benign/Likely benign	17227361	RCV000467178\|RCV001119964\|RCV001821343;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89806445	89806445	NC_000016.9:g.89806445C>T	ClinGen:CA8250919	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3890dup (p.Arg1298fs)	2175	FANCA	Likely pathogenic	1555534060	RCV000667180;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806445	89806446	16:g.89806445_89806446insT	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3884T>A (p.Leu1295Ter)	2175	FANCA	Pathogenic/Likely pathogenic	986710868	RCV000674049\|RCV002532156;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89806452	89806452	16:g.89806452A>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3884T>G (p.Leu1295Ter)	2175	FANCA	Pathogenic/Likely pathogenic	986710868	RCV000674926\|RCV002531365;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89806452	89806452	16:g.89806452A>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3878del (p.Glu1293fs)	2175	FANCA	Pathogenic	2062089336	RCV001256621\|RCV001384450;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89806458	89806458	16:g.89806458_89806458del	-
NM_000135.4(FANCA):c.3859G>A (p.Val1287Ile)	2175	FANCA	Benign/Likely benign	17227354	RCV000120948\|RCV000270548\|RCV000625424\|RCV001719883\|RCV003153391;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	16	89806477	89806477	16:g.89806477C>T	ClinGen:CA159328,UniProtKB:O15360#VAR_009655	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3859G>T (p.Val1287Phe)	2175	FANCA	Uncertain significance	17227354	RCV001119965;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806477	89806477	16:g.89806477C>A	-
NM_000135.4(FANCA):c.3858C>T (p.His1286=)	2175	FANCA	Likely benign	761705192	RCV000869716\|RCV001274553;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806478	89806478	16:g.89806478G>A	-
NM_000135.4(FANCA):c.3847_3857del (p.Lys1283fs)	2175	FANCA	Pathogenic	2062089925	RCV001256620;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806479	89806489	16:g.89806479_89806489del	-
NM_000135.4(FANCA):c.3850G>C (p.Ala1284Pro)	2175	FANCA	Conflicting interpretations of pathogenicity	142919010	RCV000465004\|RCV001508800\|RCV003153618;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806486	89806486	NC_000016.9:g.89806486C>G	ClinGen:CA8250923	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3850G>A (p.Ala1284Thr)	2175	FANCA	Conflicting interpretations of pathogenicity	142919010	RCV000630946\|RCV001274554\|RCV002261136\|RCV002528848;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	89806486	89806486	16:g.89806486C>T	ClinGen:CA8250924	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3848A>G (p.Lys1283Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	146975341	RCV000703875\|RCV001274520\|RCV002534419;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89806488	89806488	NC_000016.9:g.89806488T>C	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3847A>T (p.Lys1283Ter)	2175	FANCA	Likely pathogenic	-1	RCV003460137;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806489	89806489		-
NM_000135.4(FANCA):c.3843G>A (p.Leu1281=)	2175	FANCA	Conflicting interpretations of pathogenicity	768380959	RCV001119966\|RCV001428668;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89806493	89806493	16:g.89806493C>T	-
NM_000135.4(FANCA):c.3838G>A (p.Asp1280Asn)	2175	FANCA	Uncertain significance	914045767	RCV001241001\|RCV002499397;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806498	89806498	16:g.89806498C>T	-
NM_000135.4(FANCA):c.3829-1G>C	2175	FANCA	Pathogenic	2062090760	RCV001256526;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806508	89806508	16:g.89806508C>G	-
NC_000016.10:g.(89740100_89740803)_(89740867_89742799)del	2175	FANCA	Pathogenic	-1	RCV001256520;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806508	89809207	-1	-
NC_000016.10:g.(89740100_89740803)_(89799233_89799604)del	2175	FANCA	Pathogenic	-1	RCV001256453;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806508	89866012	-1	-
NC_000016.10:g.(89740100_89740803)_(89816657_?)del	2175	FANCA	Uncertain significance	-1	RCV001256434;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89806508	89883065	-1	-
NM_001113525.2(ZNF276):c.*1862C>T	2175	FANCA	Conflicting interpretations of pathogenicity	776077648	RCV000670656\|RCV001460871;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89806516	89806516	16:g.89806516C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3828+2dup	2175	FANCA	Uncertain significance	2062114186	RCV001256525\|RCV003393923;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89807209	89807210	16:g.89807209_89807210insA	-
NM_000135.4(FANCA):c.3828+1G>C	2175	FANCA	Pathogenic	1432988639	RCV000546890\|RCV001783028;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807211	89807211	NC_000016.9:g.89807211C>G	ClinGen:CA397485124	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3828+1G>A	2175	FANCA	Pathogenic/Likely pathogenic	1432988639	RCV000671445\|RCV001855559;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89807211	89807211	16:g.89807211C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3828+1G>T	2175	FANCA	Pathogenic	1432988639	RCV001256524;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807211	89807211	16:g.89807211C>A	-
NM_000135.4(FANCA):c.3828+1del	2175	FANCA	Likely pathogenic	-1	RCV003145112;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807211	89807211	NC_000016.9:g.89807211del	-
NM_000135.4(FANCA):c.3825A>G (p.Ser1275=)	2175	FANCA	Conflicting interpretations of pathogenicity	886052480	RCV000327839\|RCV002061214;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89807215	89807215	NC_000016.9:g.89807215T>C	ClinGen:CA10649308	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3822C>A (p.Thr1274=)	2175	FANCA	Likely benign	1382340096	RCV001487035\|RCV002501673;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807218	89807218	89807218	-
NM_000135.4(FANCA):c.3817C>G (p.Leu1273Val)	2175	FANCA	Uncertain significance	759514393	RCV000824173\|RCV002487858;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807223	89807223	16:g.89807223G>C	-
NM_000135.4(FANCA):c.3813dup (p.His1272fs)	2175	FANCA	Pathogenic	1555534521	RCV000672788\|RCV001855583;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89807226	89807227	16:g.89807226_89807227insT	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3810G>A (p.Ser1270=)	2175	FANCA	Likely benign	138144828	RCV000630986\|RCV001274521\|RCV001821782\|RCV003411493;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	16	89807230	89807230	16:g.89807230C>T	ClinGen:CA8250955	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3809C>T (p.Ser1270Leu)	2175	FANCA	Uncertain significance	752800577	RCV001580702\|RCV001866103;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89807231	89807231	89807231	-
NM_000135.4(FANCA):c.3807G>C (p.Leu1269=)	2175	FANCA	Benign	11649210	RCV000245748\|RCV000384746\|RCV001094478\|RCV001722285;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89807233	89807233	NC_000016.9:g.89807233C>G	ClinGen:CA8250958	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=)	2175	FANCA	Conflicting interpretations of pathogenicity	143772894	RCV000861812\|RCV001274555\|RCV002478951;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89807239	89807239	16:g.89807239G>A	-
NM_000135.4(FANCA):c.3798G>A (p.Met1266Ile)	2175	FANCA	Uncertain significance	1443680543	RCV000667880;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807242	89807242	16:g.89807242C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3795G>C (p.Leu1265Phe)	2175	FANCA	Uncertain significance	1010989878	RCV000674157;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807245	89807245	16:g.89807245C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3795G>T (p.Leu1265Phe)	2175	FANCA	Uncertain significance	-1	RCV002292227;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807245	89807245	89807245	-
NM_000135.4(FANCA):c.3789_3794dup (p.Ser1264_Leu1265insPheSer)	2175	FANCA	Uncertain significance	-1	RCV003448717;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807245	89807246		-
NM_000135.4(FANCA):c.3791_3793del (p.Ser1264del)	2175	FANCA	Pathogenic/Likely pathogenic	1183256870	RCV001377928\|RCV002499780;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807247	89807249	89807246	-
NM_000135.4(FANCA):c.3792del (p.Ser1264_Leu1265insTer)	2175	FANCA	Pathogenic/Likely pathogenic	587778319	RCV000120946\|RCV001386991\|RCV003460851;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807248	89807248	16:g.89807248_89807248del	ClinGen:CA159324	CN169374 not specified;
NM_000135.4(FANCA):c.3786C>G (p.Phe1262Leu)	2175	FANCA	Pathogenic	2062115605	RCV001256523;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807254	89807254	16:g.89807254G>C	-
NM_000135.4(FANCA):c.3781_3785del (p.Phe1261fs)	2175	FANCA	Pathogenic	-1	RCV003468097;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807255	89807259		-
NM_000135.4(FANCA):c.3784T>C (p.Phe1262Leu)	2175	FANCA	Uncertain significance	1555534579	RCV000674692;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807256	89807256	16:g.89807256A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3774_3776del (p.Phe1259del)	2175	FANCA	Pathogenic	2062115822	RCV001256522;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807264	89807266	16:g.89807264_89807266del	-
NC_000016.10:g.(89740867_89742799)_(89779958_89782858)del	2175	FANCA	Pathogenic	-1	RCV001256251;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807275	89849266	-1	-
NC_000016.10:g.(89740867_89742799)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256433;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807275	89883065	-1	-
NM_000135.4(FANCA):c.3766-2A>G	2175	FANCA	Pathogenic	1219402916	RCV001256519;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89807276	89807276	16:g.89807276T>C	-
NM_001113525.2(ZNF276):c.*2634C>T	2175	FANCA	Conflicting interpretations of pathogenicity	34476949	RCV000283492\|RCV002056543;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89807288	89807288	NC_000016.9:g.89807288C>T	ClinGen:CA8250969	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3765+37G>A	2175	FANCA	Benign	34420680	RCV000242361\|RCV001640468\|RCV003316338;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809171	89809171	16:g.89809171C>T	ClinGen:CA8250986	CN169374 not specified;
NM_000135.4(FANCA):c.3765+2C>T	2175	FANCA	Likely pathogenic	776827467	RCV001237762\|RCV003469445;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809206	89809206	16:g.89809206G>A	-
NM_000135.4(FANCA):c.3765+1G>T	2175	FANCA	Pathogenic	2062169124	RCV001256518;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809207	89809207	16:g.89809207C>A	-
NM_000135.4(FANCA):c.3765+1G>A	2175	FANCA	Likely pathogenic	-1	RCV003460147;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809207	89809207		-
NM_000135.4(FANCA):c.3761_3764dup (p.Leu1256fs)	2175	FANCA	Pathogenic	2062169220	RCV001256517;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809208	89809209	16:g.89809208_89809209insTCCT	-
NM_000135.4(FANCA):c.3763_3765delinsC (p.Glu1255fs)	2175	FANCA	Likely pathogenic	-1	RCV003460151;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809208	89809210		-
NM_000135.4(FANCA):c.3761_3762dup (p.Glu1255fs)	2175	FANCA	Pathogenic/Likely pathogenic	868273545	RCV000671077\|RCV001071414;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89809210	89809211	16:g.89809210_89809211insCT	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3761_3762del (p.Glu1254fs)	2175	FANCA	Pathogenic	868273545	RCV000411410\|RCV002252108;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89809211	89809212	NC_000016.9:g.89809212TC[3]	ClinGen:CA16041802	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3761A>T (p.Glu1254Val)	2175	FANCA	Uncertain significance	750773229	RCV000229134\|RCV000671098\|RCV001800587;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89809212	89809212	16:g.89809212T>A	ClinGen:CA8251000	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3760G>T (p.Glu1254Ter)	2175	FANCA	Pathogenic	375700263	RCV001256516;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809213	89809213	16:g.89809213C>A	-
NM_000135.4(FANCA):c.3753C>A (p.Cys1251Ter)	2175	FANCA	Likely pathogenic	752126515	RCV001263705;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809220	89809220	16:g.89809220G>T	-
NM_000135.4(FANCA):c.3750C>G (p.Asp1250Glu)	2175	FANCA	Uncertain significance	777313447	RCV001205808\|RCV001293882;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809223	89809223	16:g.89809223G>C	-
NM_000135.4(FANCA):c.3746T>C (p.Leu1249Pro)	2175	FANCA	Pathogenic	753316789	RCV001256413;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809227	89809227	16:g.89809227A>G	-
NM_000135.4(FANCA):c.3745del (p.Leu1249fs)	2175	FANCA	Likely pathogenic	1555535472	RCV000674061;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809228	89809228	16:g.89809228_89809228del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3733C>A (p.Gln1245Lys)	2175	FANCA	Conflicting interpretations of pathogenicity	745665658	RCV000630834\|RCV001121952\|RCV001821772;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89809240	89809240	16:g.89809240G>T	ClinGen:CA8251008	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3715_3729del (p.Glu1239_Arg1243del)	2175	FANCA	Pathogenic	1375036674	RCV001256412;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809244	89809258	16:g.89809244_89809258del	-
NM_000135.4(FANCA):c.3725_3727del (p.Ile1242del)	2175	FANCA	Uncertain significance	1441710252	RCV000672916\|RCV001861815;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89809246	89809248	16:g.89809246_89809248del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3720_3724del (p.Glu1240fs)	2175	FANCA	Pathogenic	794726660	RCV000003617\|RCV001851619;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89809249	89809253	NC_000016.9:g.89809250_89809254del	ClinGen:CA252784,OMIM:607139.0010	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3723C>T (p.Asn1241=)	2175	FANCA	Likely benign	202107465	RCV000865215\|RCV001274556;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809250	89809250	16:g.89809250G>A	-
NM_000135.4(FANCA):c.3718G>C (p.Glu1240Gln)	2175	FANCA	Uncertain significance	150719428	RCV000459598\|RCV002480395;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809255	89809255	NC_000016.9:g.89809255C>G	ClinGen:CA8251011	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3703CAA[1] (p.Gln1236del)	2175	FANCA	Uncertain significance	1555535513	RCV000674949;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809265	89809267	16:g.89809265_89809267del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3703C>G (p.Gln1235Glu)	2175	FANCA	Conflicting interpretations of pathogenicity	769919783	RCV000198937\|RCV000765322;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809270	89809270	16:g.89809270G>C	ClinGen:CA338301	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3701T>C (p.Ile1234Thr)	2175	FANCA	Uncertain significance	886052481	RCV000322157;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809272	89809272	NC_000016.9:g.89809272A>G	ClinGen:CA10644640	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3698C>T (p.Ala1233Val)	2175	FANCA	Conflicting interpretations of pathogenicity	545742908	RCV000463994\|RCV002496760;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809275	89809275	NC_000016.9:g.89809275G>A	ClinGen:CA8251016	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3697G>A (p.Ala1233Thr)	2175	FANCA	Uncertain significance	751899346	RCV001563815\|RCV001247464;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89809276	89809276	16:g.89809276C>T	-
NM_000135.4(FANCA):c.3696del (p.Phe1232fs)	2175	FANCA	Pathogenic/Likely pathogenic	1555535527	RCV000669694\|RCV002531235;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89809277	89809277	16:g.89809277_89809277del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3665C>T (p.Pro1222Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	374537936	RCV001270236\|RCV001246139\|RCV001751356\|RCV001824931;	N	MONDO:MONDO:0005387,MedGen:C0085215\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809308	89809308	16:g.89809308G>A	-
NM_000135.4(FANCA):c.3658C>T (p.Pro1220Ser)	2175	FANCA	Uncertain significance	773150877	RCV000553092\|RCV001274524;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809315	89809315	16:g.89809315G>A	ClinGen:CA397485495	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3654A>G (p.Pro1218=)	2175	FANCA	Benign	1800358	RCV000250809\|RCV000379171\|RCV001094479\|RCV001706290;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89809319	89809319	16:g.89809319T>C	ClinGen:CA8251033	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3644C>A (p.Ala1215Asp)	2175	FANCA	Conflicting interpretations of pathogenicity	199601218	RCV000685297\|RCV001274526\|RCV001816695\|RCV003237986;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:CN517202	16	89809329	89809329	NC_000016.9:g.89809329G>T	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3640G>T (p.Glu1214Ter)	2175	FANCA	Likely pathogenic	2062172011	RCV001263706;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809333	89809333	16:g.89809333C>A	-
NM_000135.4(FANCA):c.3638_3639del (p.Pro1213fs)	2175	FANCA	Pathogenic	1304878514	RCV001245228\|RCV001256410;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809334	89809335	16:g.89809334_89809335del	-
NM_000135.4(FANCA):c.3639del (p.Glu1214fs)	2175	FANCA	Pathogenic	2062172051	RCV001256411\|RCV002568709;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89809334	89809334	16:g.89809334_89809334del	-
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala)	2175	FANCA	Conflicting interpretations of pathogenicity	200713354	RCV000630847\|RCV001121953\|RCV003237964;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89809336	89809336	16:g.89809336G>C	ClinGen:CA8251038	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3634dup (p.Ser1212fs)	2175	FANCA	Pathogenic/Likely pathogenic	1374769712	RCV000703200\|RCV001274528;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809338	89809339	NC_000016.9:g.89809339dup	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3635C>T (p.Ser1212Phe)	2175	FANCA	Uncertain significance	1203053045	RCV001968024\|RCV002492050;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809338	89809338	89809338	-
NM_000135.4(FANCA):c.3630C>T (p.Phe1210=)	2175	FANCA	Likely benign	776001484	RCV001468852\|RCV002502719;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809343	89809343	16:g.89809343G>A	-
NM_000135.4(FANCA):c.3629dup (p.Leu1211fs)	2175	FANCA	Pathogenic	2062172394	RCV001045029\|RCV001256409;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809343	89809344	16:g.89809343_89809344insA	-
NM_000135.4(FANCA):c.3627-1G>A	2175	FANCA	Pathogenic	2062172440	RCV001256408;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809347	89809347	16:g.89809347C>T	-
NC_000016.10:g.(89742939_89744958)_(89745072_89746583)del	2175	FANCA	Uncertain significance	-1	RCV001256296;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809347	89812991	-1	-
NC_000016.10:g.(89742939_89744958)_(89748768_89749729)del	2175	FANCA	Pathogenic	-1	RCV001256609;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809347	89816137	-1	-
NC_000016.10:g.(89742939_89744958)_(89767238_89769836)del	2175	FANCA	Pathogenic	-1	RCV001256384;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809347	89836244	-1	-
NC_000016.10:g.(89742939_89744958)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256432;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809347	89883065	-1	-
NM_000135.4(FANCA):c.3627-3_3627-2del	2175	FANCA	Pathogenic/Likely pathogenic	2062172458	RCV001256407\|RCV001879790;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89809348	89809349	16:g.89809348_89809349del	-
NM_000135.4(FANCA):c.3627-8T>G	2175	FANCA	Likely benign	77877981	RCV000864064\|RCV001274557;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809354	89809354	16:g.89809354A>C	-
NM_000135.4(FANCA):c.3627-9C>T	2175	FANCA	Likely benign	547300201	RCV001443036\|RCV002504727;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809355	89809355	89809355	-
NM_000135.4(FANCA):c.3627-17C>T	2175	FANCA	Likely benign	754751562	RCV001504082\|RCV002488297;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89809363	89809363	89809363	-
NM_000135.4(FANCA):c.3626+7G>A	2175	FANCA	Conflicting interpretations of pathogenicity	933657325	RCV000868485\|RCV001121954;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811360	89811360	16:g.89811360C>T	-
NM_000135.4(FANCA):c.3626+5G>C	2175	FANCA	Uncertain significance	370801038	RCV001293881;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811362	89811362	89811362	-
NM_000135.4(FANCA):c.3626+4C>T	2175	FANCA	Uncertain significance	772166806	RCV000996415\|RCV001055620\|RCV002497304;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811363	89811363	16:g.89811363G>A	-
NM_000135.4(FANCA):c.3626+1G>T	2175	FANCA	Likely pathogenic	34885858	RCV000668012;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811366	89811366	16:g.89811366C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3624C>T (p.Ser1208=)	2175	FANCA	Conflicting interpretations of pathogenicity	149797103	RCV000479566\|RCV000500885\|RCV000813304\|RCV003401525;	N	MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|	16	89811369	89811369	NC_000016.9:g.89811369G>A	ClinGen:CA8251077	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3610_3613del (p.Arg1204fs)	2175	FANCA	Likely pathogenic	1555536361	RCV000674522;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811380	89811383	16:g.89811380_89811383del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3611G>C (p.Arg1204Pro)	2175	FANCA	Pathogenic	770622823	RCV001256406;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811382	89811382	16:g.89811382C>G	-
NM_000135.4(FANCA):c.3610C>T (p.Arg1204Trp)	2175	FANCA	Conflicting interpretations of pathogenicity	759303096	RCV001361375\|RCV002504592;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811383	89811383	89811383	-
NM_000135.4(FANCA):c.3602AAG[1] (p.Glu1202del)	2175	FANCA	Conflicting interpretations of pathogenicity	1380850249	RCV000630899\|RCV000671321;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811386	89811388	NC_000016.9:g.89811386CTT[1]	ClinGen:CA658798659	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3592C>T (p.Gln1198Ter)	2175	FANCA	Likely pathogenic	1381684916	RCV000671105;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811401	89811401	16:g.89811401G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3591G>A (p.Leu1197=)	2175	FANCA	Benign/Likely benign	55773634	RCV000245852\|RCV000456749\|RCV003316337;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811402	89811402	NC_000016.9:g.89811402C>T	ClinGen:CA8251088	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3586G>T (p.Glu1196Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1390620949	RCV000723238\|RCV001868923\|RCV003465654;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811407	89811407	NC_000016.9:g.89811407C>A	-
NM_000135.4(FANCA):c.3584G>A (p.Arg1195Gln)	2175	FANCA	Conflicting interpretations of pathogenicity	138013482	RCV000120944\|RCV000862979\|RCV001274558;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811409	89811409	16:g.89811409C>T	ClinGen:CA159319	CN169374 not specified;
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp)	2175	FANCA	Conflicting interpretations of pathogenicity	143642304	RCV000120942\|RCV000204450\|RCV001115378\|RCV003407512;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89811410	89811410	16:g.89811410G>A	ClinGen:CA332149	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3581C>T (p.Pro1194Leu)	2175	FANCA	Likely pathogenic	1555536390	RCV000630873\|RCV001256405;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811412	89811412	16:g.89811412G>A	ClinGen:CA397485658	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3575C>T (p.Pro1192Leu)	2175	FANCA	Uncertain significance	780078373	RCV001115379\|RCV001526824\|RCV002556267;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89811418	89811418	16:g.89811418G>A	-
NM_000135.4(FANCA):c.3568C>T (p.Gln1190Ter)	2175	FANCA	Pathogenic	2062210802	RCV001256404;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811425	89811425	16:g.89811425G>A	-
NM_000135.4(FANCA):c.3563dup (p.His1188fs)	2175	FANCA	Likely pathogenic	-1	RCV003460143;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811429	89811430		-
NM_000135.4(FANCA):c.3560dup (p.His1188fs)	2175	FANCA	Pathogenic	2062211067	RCV001256298;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811432	89811433	16:g.89811432_89811433insC	-
NM_000135.4(FANCA):c.3558dup (p.Arg1187fs)	2175	FANCA	Pathogenic	747851434	RCV000003613\|RCV000630905\|RCV001818121\|RCV003398432;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|	16	89811434	89811435	NC_000016.9:g.89811436dup	ClinGen:CA252778,OMIM:607139.0006	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3556A>G (p.Arg1186Gly)	2175	FANCA	Conflicting interpretations of pathogenicity	748713183	RCV001244123\|RCV002480822\|RCV003230651;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89811437	89811437	16:g.89811437T>C	-
NM_000135.4(FANCA):c.3555G>A (p.Trp1185Ter)	2175	FANCA	Pathogenic	1185165443	RCV001256297\|RCV002568708;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89811438	89811438	16:g.89811438C>T	-
NM_000135.4(FANCA):c.3551G>C (p.Arg1184Pro)	2175	FANCA	Conflicting interpretations of pathogenicity	147672303	RCV000287104\|RCV000484383\|RCV001094249;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811442	89811442	NC_000016.9:g.89811442C>G	ClinGen:CA8251098	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3551G>A (p.Arg1184Gln)	2175	FANCA	Uncertain significance	147672303	RCV002023129\|RCV002507801;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811442	89811442	89811442	-
NM_000135.4(FANCA):c.3550C>T (p.Arg1184Trp)	2175	FANCA	Conflicting interpretations of pathogenicity	201492940	RCV000796532\|RCV001276495\|RCV001816853;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89811443	89811443	16:g.89811443G>A	-
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met)	2175	FANCA	Benign/Likely benign	372706571	RCV000120943\|RCV000869827\|RCV001115380;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811455	89811455	16:g.89811455C>T	ClinGen:CA159316	CN169374 not specified;
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg)	2175	FANCA	Uncertain significance	141422170	RCV000625919\|RCV001366802\|RCV003235314;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374	16	89811457	89811457	16:g.89811457G>C	ClinGen:CA8251103	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3532G>A (p.Glu1178Lys)	2175	FANCA	Uncertain significance	-1	RCV002292246;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811461	89811461	89811461	-
NM_000135.4(FANCA):c.3531G>A (p.Leu1177=)	2175	FANCA	Conflicting interpretations of pathogenicity	886052482	RCV000335715\|RCV002056544;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89811462	89811462	NC_000016.9:g.89811462C>T	ClinGen:CA10649310	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3525G>A (p.Pro1175=)	2175	FANCA	Conflicting interpretations of pathogenicity	765106818	RCV001115381\|RCV001442079;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89811468	89811468	16:g.89811468C>T	-
NM_000135.4(FANCA):c.3524C>T (p.Pro1175Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	147017625	RCV000120941\|RCV000226225\|RCV001843480\|RCV003147340;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|Human Phenotype Ontology:HP:0002884,MONDO:MONDO:0018666,MedGen:C0206624, Orphanet:449\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811469	89811469	16:g.89811469G>A	ClinGen:CA159313	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3517TGG[1] (p.Trp1174del)	2175	FANCA	Pathogenic	1555536446	RCV000540300\|RCV001276496;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811471	89811473	NC_000016.9:g.89811472CAC[1]	ClinGen:CA658656518	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3518G>A (p.Trp1173Ter)	2175	FANCA	Pathogenic	-1	RCV003460155;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811475	89811475		-
NM_000135.4(FANCA):c.3514-1G>C	2175	FANCA	Likely pathogenic	-1	RCV003460158;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89811480	89811480		-
NM_000135.4(FANCA):c.3514-4A>G	2175	FANCA	Conflicting interpretations of pathogenicity	149388130	RCV000630983\|RCV001293880\|RCV001821781;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89811483	89811483	16:g.89811483T>C	ClinGen:CA8251107	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3514-13G>A	2175	FANCA	Conflicting interpretations of pathogenicity	200270574	RCV000374059\|RCV001482237\|RCV003237826;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89811492	89811492	16:g.89811492C>T	ClinGen:CA8251109	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3504_3513+55del	2175	FANCA	Likely pathogenic	-1	RCV003460146;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89812937	89813001		-
NM_000135.4(FANCA):c.3513+1G>A	2175	FANCA	Likely pathogenic	1188082371	RCV001215793\|RCV003462732;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89812991	89812991	16:g.89812991C>T	-
NM_000135.4(FANCA):c.3513G>A (p.Leu1171=)	2175	FANCA	Pathogenic	2038398296	RCV001256295;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89812992	89812992	16:g.89812992C>T	-
NM_000135.4(FANCA):c.3500T>A (p.Leu1167Ter)	2175	FANCA	Likely pathogenic	2038398856	RCV001263707;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813005	89813005	16:g.89813005A>T	-
NM_000135.4(FANCA):c.3491C>T (p.Pro1164Leu)	2175	FANCA	Likely pathogenic	2038399117	RCV001256294\|RCV002570433;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813014	89813014	16:g.89813014G>A	-
NM_000135.4(FANCA):c.3490C>T (p.Pro1164Ser)	2175	FANCA	Pathogenic/Likely pathogenic	545772434	RCV001256293\|RCV001879789;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813015	89813015	16:g.89813015G>A	-
NM_000135.4(FANCA):c.3482C>T (p.Thr1161Met)	2175	FANCA	Conflicting interpretations of pathogenicity	142833057	RCV000503023\|RCV000630890;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813023	89813023	16:g.89813023G>A	ClinGen:CA8251139	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3478C>T (p.Gln1160Ter)	2175	FANCA	Likely pathogenic	-1	RCV002309318;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813027	89813027	89813027	-
NM_000135.4(FANCA):c.3476G>C (p.Cys1159Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	762837582	RCV000232454\|RCV000765323;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813029	89813029	16:g.89813029C>G	ClinGen:CA8251141	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp)	2175	FANCA	Conflicting interpretations of pathogenicity	143671872	RCV000474793\|RCV000499924\|RCV000765324\|RCV001579530\|RCV003418176;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|	16	89813075	89813075	NC_000016.9:g.89813075G>A	ClinGen:CA8251153	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3429G>A (p.Leu1143=)	2175	FANCA	Conflicting interpretations of pathogenicity	146062039	RCV001118523\|RCV001506640;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813076	89813076	16:g.89813076C>T	-
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val)	2175	FANCA	Conflicting interpretations of pathogenicity	61753269	RCV000120940\|RCV000474415\|RCV002293419\|RCV003444203;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813078	89813078	16:g.89813078G>C	ClinGen:CA159310	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3424T>C (p.Cys1142Arg)	2175	FANCA	Uncertain significance	2038401184	RCV001256292;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813081	89813081	16:g.89813081A>G	-
NM_000135.4(FANCA):c.3422C>A (p.Ala1141Asp)	2175	FANCA	Uncertain significance	587778318	RCV000120939\|RCV000667894\|RCV002514635;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813083	89813083	16:g.89813083G>T	ClinGen:CA159307	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3420C>T (p.Asn1140=)	2175	FANCA	Benign/Likely benign	369765552	RCV001509687\|RCV001821806\|RCV002501745\|RCV003416376;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89813085	89813085	89813085	-
NM_000135.4(FANCA):c.3409-25_3418del	2175	FANCA	Likely pathogenic	-1	RCV003460140;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813087	89813121		-
NM_000135.4(FANCA):c.3409-3_3417del	2175	FANCA	Likely pathogenic	-1	RCV003468099;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813088	89813099		-
NM_000135.4(FANCA):c.3412C>G (p.Leu1138Val)	2175	FANCA	Benign/Likely benign	138417003	RCV000120938\|RCV000228134\|RCV000674808\|RCV001311466;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89813093	89813093	16:g.89813093G>C	ClinGen:CA159304	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3409-2A>G	2175	FANCA	Likely pathogenic	-1	RCV003072414\|RCV003459740;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813098	89813098	NC_000016.9:g.89813098T>C	-
NM_000135.4(FANCA):c.3409-18C>T	2175	FANCA	Likely benign	762166434	RCV002105552\|RCV002494237;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813114	89813114	89813114	-
NM_000135.4(FANCA):c.3408+45G>A	2175	FANCA	Benign	1800355	RCV000254260\|RCV001610558\|RCV003316336;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813194	89813194	NC_000016.9:g.89813194C>T	ClinGen:CA8251182	CN169374 not specified;
NM_000135.4(FANCA):c.3408+33T>C	2175	FANCA	Benign	17227191	RCV000246376\|RCV001711648\|RCV003316335;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813206	89813206	16:g.89813206A>G	ClinGen:CA8251187	CN169374 not specified;
NM_000135.4(FANCA):c.3408+16A>G	2175	FANCA	Likely benign	373636902	RCV002078503\|RCV002494152;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813223	89813223	89813223	-
NM_000135.4(FANCA):c.3408+9C>G	2175	FANCA	Likely benign	377702890	RCV000865684\|RCV001274560\|RCV001816973;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89813230	89813230	16:g.89813230G>C	-
NM_000135.4(FANCA):c.3408+1G>A	2175	FANCA	Uncertain significance	1567601557	RCV001256291;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813238	89813238	16:g.89813238C>T	-
NM_000135.4(FANCA):c.3400TTC[1] (p.Phe1135del)	2175	FANCA	Pathogenic/Likely pathogenic	786204246	RCV000168439\|RCV001256290;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813242	89813244	16:g.89813242_89813244del	ClinGen:CA334763	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3402dup (p.Phe1135fs)	2175	FANCA	Pathogenic/Likely pathogenic	1555537347	RCV000673998\|RCV001382479;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813244	89813245	16:g.89813244_89813245insG	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3396_3399del (p.His1133fs)	2175	FANCA	Pathogenic	2038407808	RCV001256287;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813248	89813251	16:g.89813248_89813251del	-
NM_000135.4(FANCA):c.3398del (p.His1133fs)	2175	FANCA	Pathogenic	2038407878	RCV001256289\|RCV002570432;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813249	89813249	16:g.89813249_89813249del	-
NM_000135.4(FANCA):c.3397del (p.His1133fs)	2175	FANCA	Pathogenic	758917273	RCV001227821\|RCV001256288;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813250	89813250	16:g.89813250_89813250del	-
NM_000135.4(FANCA):c.3393_3395delinsA (p.Ala1132fs)	2175	FANCA	Likely pathogenic	-1	RCV003460176;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813252	89813254		-
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala)	2175	FANCA	Pathogenic/Likely pathogenic	574034197	RCV000230300\|RCV000498721\|RCV000665186;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813256	89813256	16:g.89813256T>C	ClinGen:CA8251197,UniProtKB:O15360#VAR_009653	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3390C>G (p.Ile1130Met)	2175	FANCA	Uncertain significance	373168838	RCV001908229\|RCV002490128;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813257	89813257	89813257	-
NM_000135.4(FANCA):c.3386A>T (p.Asp1129Val)	2175	FANCA	Pathogenic	2038408351	RCV001256286;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813261	89813261	16:g.89813261T>A	-
NM_000135.4(FANCA):c.3385G>C (p.Asp1129His)	2175	FANCA	Uncertain significance	768851109	RCV000525450\|RCV001821479\|RCV002476090;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813262	89813262	16:g.89813262C>G	ClinGen:CA8251199	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3382C>T (p.Gln1128Ter)	2175	FANCA	Likely pathogenic	1439817346	RCV000673853;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813265	89813265	16:g.89813265G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3382C>G (p.Gln1128Glu)	2175	FANCA	Uncertain significance	1439817346	RCV000667004\|RCV001241327;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813265	89813265	16:g.89813265G>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3381A>G (p.Thr1127=)	2175	FANCA	Likely benign	946344673	RCV001437112\|RCV002501237;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813266	89813266	16:g.89813266T>C	-
NM_000135.4(FANCA):c.3373G>A (p.Ala1125Thr)	2175	FANCA	Uncertain significance	1162813981	RCV001306254\|RCV002499579;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813274	89813274	89813274	-
NM_000135.4(FANCA):c.3367G>A (p.Gly1123Arg)	2175	FANCA	Uncertain significance	1437529209	RCV001333236\|RCV001865780\|RCV002546621;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89813280	89813280	89813280	-
NM_000135.4(FANCA):c.3366C>T (p.His1122=)	2175	FANCA	Likely benign	771815968	RCV000877603\|RCV000989670;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813281	89813281	16:g.89813281G>A	-
NM_000135.4(FANCA):c.3359_3361del (p.Cys1120del)	2175	FANCA	Uncertain significance	1314042335	RCV000667430\|RCV002530711;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813286	89813288	16:g.89813286_89813288del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3361T>C (p.Ser1121Pro)	2175	FANCA	Uncertain significance	977982480	RCV000699091\|RCV002485712;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813286	89813286	NC_000016.9:g.89813286A>G	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3359G>C (p.Cys1120Ser)	2175	FANCA	Uncertain significance	370731587	RCV001067137\|RCV001118524;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813288	89813288	16:g.89813288C>G	-
NM_000135.4(FANCA):c.3357C>T (p.Phe1119=)	2175	FANCA	Likely benign	878853664	RCV000672377\|RCV001411639;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813290	89813290	16:g.89813290G>A	ClinGen:CA10583436	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3350G>C (p.Arg1117Thr)	2175	FANCA	Pathogenic	2038409656	RCV001256619;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813297	89813297	16:g.89813297C>G	-
NM_000135.4(FANCA):c.3349A>G (p.Arg1117Gly)	2175	FANCA	Pathogenic/Likely pathogenic	149277003	RCV000206698\|RCV000254722\|RCV000665865;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813298	89813298	16:g.89813298T>C	ClinGen:CA350699,UniProtKB:O15360#VAR_009651	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3349-1G>A	2175	FANCA	Pathogenic/Likely pathogenic	769862233	RCV000761273\|RCV001043409;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89813299	89813299	NC_000016.9:g.89813299C>T	-
NC_000016.10:g.(89746891_89748658)_(89752223_89758576)del	2175	FANCA	Pathogenic	-1	RCV001256397;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813299	89824984	-1	-
NC_000016.10:g.(89746891_89748658)_(89770025_89770165)del	2175	FANCA	Uncertain significance	-1	RCV001256267;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813299	89836573	-1	-
NC_000016.10:g.(89746891_89748658)_(89770635_89771677)del	2175	FANCA	Uncertain significance	-1	RCV001256587;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813299	89838085	-1	-
NC_000016.10:g.(89746891_89748658)_(89771815_89773270)del	2175	FANCA	Uncertain significance	-1	RCV001256486;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813299	89839678	-1	-
NC_000016.10:g.(89746891_89748658)_(89796019_89799165)del	2175	FANCA	Pathogenic	-1	RCV001256465;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813299	89865573	-1	-
NM_000135.4(FANCA):c.3349-2A>G	2175	FANCA	Pathogenic	2038409874	RCV001239097\|RCV001780176;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813300	89813300	16:g.89813300T>C	-
NM_000135.4(FANCA):c.3349-3C>T	2175	FANCA	Uncertain significance	373861415	RCV000665511\|RCV001242629\|RCV003432720;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|	16	89813301	89813301	16:g.89813301G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3349-19G>T	2175	FANCA	Likely benign	377180908	RCV002134027\|RCV002500258;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89813317	89813317	89813317	-
NM_000135.4(FANCA):c.3348+29C>T	2175	FANCA	Likely benign	1800348	RCV000254433\|RCV003316334;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815038	89815038	NC_000016.9:g.89815038G>A	ClinGen:CA8251220	CN169374 not specified;
NM_000135.4(FANCA):c.3348+18A>G	2175	FANCA	Benign/Likely benign	1800347	RCV000248216\|RCV000513957\|RCV001256618\|RCV001521504;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89815049	89815049	NC_000016.9:g.89815049T>C	ClinGen:CA8251224	CN517202 not provided;
NM_000135.4(FANCA):c.3348+7G>T	2175	FANCA	Conflicting interpretations of pathogenicity	185527578	RCV000394021\|RCV000858420\|RCV000989671\|RCV001820954;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89815060	89815060	16:g.89815060C>A	ClinGen:CA8251230	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3348+5G>A	2175	FANCA	Pathogenic	1343799019	RCV001256617;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815062	89815062	16:g.89815062C>T	-
NM_000135.4(FANCA):c.3348+1G>A	2175	FANCA	Pathogenic	751266148	RCV000668641\|RCV001270082\|RCV001246767\|RCV003420183;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|	16	89815066	89815066	16:g.89815066C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.89748659_89762022del	2175	FANCA	Pathogenic	-1	RCV001256607;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815067	89828430	-1	-
NM_000135.4(FANCA):c.3339C>G (p.Asn1113Lys)	2175	FANCA	Uncertain significance	1236607168	RCV001256616\|RCV001879802;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89815076	89815076	16:g.89815076G>C	-
NM_000135.4(FANCA):c.3338A>T (p.Asn1113Ile)	2175	FANCA	Uncertain significance	1204335568	RCV001256615;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815077	89815077	16:g.89815077T>A	-
NM_000135.4(FANCA):c.3335T>G (p.Val1112Gly)	2175	FANCA	Uncertain significance	2038474528	RCV001256614;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815080	89815080	16:g.89815080A>C	-
NM_000135.4(FANCA):c.3329A>C (p.His1110Pro)	2175	FANCA	Pathogenic	752837228	RCV001256613;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815086	89815086	16:g.89815086T>G	-
NM_000135.4(FANCA):c.3319C>T (p.Gln1107Ter)	2175	FANCA	Likely pathogenic	-1	RCV003460139;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815096	89815096		-
NM_000135.4(FANCA):c.3316G>A (p.Glu1106Lys)	2175	FANCA	Conflicting interpretations of pathogenicity	777825824	RCV000671214\|RCV001348026;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89815099	89815099	16:g.89815099C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3297G>C (p.Gln1099His)	2175	FANCA	Likely benign	779268656	RCV000470237\|RCV001276503\|RCV002480394;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89815118	89815118	NC_000016.9:g.89815118C>G	ClinGen:CA8251239	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3288G>C (p.Gln1096His)	2175	FANCA	Uncertain significance	1433848980	RCV000816819\|RCV001256612\|RCV003128728;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89815127	89815127	16:g.89815127C>G	-
NM_000135.4(FANCA):c.3286C>T (p.Gln1096Ter)	2175	FANCA	Pathogenic	775799529	RCV001256611;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815129	89815129	16:g.89815129G>A	-
NM_000135.4(FANCA):c.3274G>A (p.Gly1092Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	772828870	RCV001118525\|RCV001240295;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89815141	89815141	16:g.89815141C>T	-
NM_000135.4(FANCA):c.3270C>T (p.Leu1090=)	2175	FANCA	Likely benign	762719233	RCV001274563\|RCV001496591;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89815145	89815145	16:g.89815145G>A	-
NM_000135.4(FANCA):c.3267C>T (p.Val1089=)	2175	FANCA	Conflicting interpretations of pathogenicity	994416299	RCV000873449\|RCV001118526;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815148	89815148	16:g.89815148G>A	-
NM_000135.4(FANCA):c.3266T>G (p.Val1089Gly)	2175	FANCA	Uncertain significance	2038476999	RCV001221657\|RCV001256610;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815149	89815149	16:g.89815149A>C	-
NM_000135.4(FANCA):c.3265G>A (p.Val1089Ile)	2175	FANCA	Benign/Likely benign	536839082	RCV000313365\|RCV001094354\|RCV001820955;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89815150	89815150	NC_000016.9:g.89815150C>T	ClinGen:CA8251247	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3263C>T (p.Ser1088Phe)	2175	FANCA	Benign	17233497	RCV000120937\|RCV000351747\|RCV000488415\|RCV001094408\|RCV001705888;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|Human Phenotype Ontology:HP:0012125,MONDO:MONDO:0008315,MedGen:C0376358,OMIM:176807, Orphanet:1331\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedG	16	89815152	89815152	16:g.89815152G>A	ClinGen:CA159302,UniProtKB:O15360#VAR_017501	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3251G>C (p.Arg1084Pro)	2175	FANCA	Uncertain significance	-1	RCV003340680;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815164	89815164		-
NM_000135.4(FANCA):c.3246C>T (p.Leu1082=)	2175	FANCA	Likely benign	753864057	RCV000864322\|RCV001280427;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815169	89815169	16:g.89815169G>A	-
NC_000016.10:g.(89748768_89749729)_(89758706_89761948)del	2175	FANCA	Pathogenic	-1	RCV001256285;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815176	89828356	-1	-
NC_000016.10:g.(89748768_89749729)_(89765067_89767140)del	2175	FANCA	Uncertain significance	-1	RCV001256498;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815176	89833548	-1	-
NC_000016.9:g.(89815176_89816137)_(89866047_89869666)del	2175	FANCA	Uncertain significance	-1	RCV001256345;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815176	89869666	-1	-
NM_000135.4(FANCA):c.3240-2A>G	2175	FANCA	Likely pathogenic	2038478110	RCV001256608;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815177	89815177	16:g.89815177T>C	-
NM_000135.4(FANCA):c.3240-3C>T	2175	FANCA	Uncertain significance	1315428324	RCV000558227\|RCV001276504;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89815178	89815178	16:g.89815178G>A	ClinGen:CA658656520	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3240-42G>A	2175	FANCA	Benign	1800345	RCV000251643\|RCV001510314\|RCV001537681\|RCV001598632;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89815217	89815217	16:g.89815217C>T	ClinGen:CA8251269	CN169374 not specified;
NM_000135.4(FANCA):c.3239+82T>G	2175	FANCA	Pathogenic	2038511531	RCV001256515;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816056	89816056	16:g.89816056A>C	-
NM_000135.4(FANCA):c.3239+11C>G	2175	FANCA	Likely benign	200232122	RCV001820327\|RCV002077303\|RCV002489877;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816127	89816127	89816127	-
NM_000135.4(FANCA):c.3239+7C>T	2175	FANCA	Likely benign	775293779	RCV001466613\|RCV002495682;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816131	89816131	89816131	-
NM_000135.4(FANCA):c.3239+1dup	2175	FANCA	Conflicting interpretations of pathogenicity	766989857	RCV000821969\|RCV003448350;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816136	89816137	16:g.89816136_89816137insC	-
NM_000135.4(FANCA):c.3239G>A (p.Arg1080Gln)	2175	FANCA	Pathogenic/Likely pathogenic	1555538571	RCV000668167;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816138	89816138	16:g.89816138C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3239G>T (p.Arg1080Leu)	2175	FANCA	Pathogenic	1555538571	RCV001256514;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816138	89816138	16:g.89816138C>A	-
NM_000135.4(FANCA):c.3234C>G (p.Tyr1078Ter)	2175	FANCA	Pathogenic	764030196	RCV001783246\|RCV002541143;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89816143	89816143	89816143	-
NM_000135.4(FANCA):c.3230T>A (p.Met1077Lys)	2175	FANCA	Uncertain significance	776603588	RCV000703301\|RCV000765325\|RCV003238192;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89816147	89816147	NC_000016.9:g.89816147A>T	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3208del (p.Gln1070fs)	2175	FANCA	Likely pathogenic	-1	RCV003460161;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816169	89816169		-
NM_000135.4(FANCA):c.3206T>G (p.Leu1069Arg)	2175	FANCA	Uncertain significance	756620986	RCV001038750\|RCV002479248;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816171	89816171	16:g.89816171A>C	-
NM_000135.4(FANCA):c.3198T>C (p.Ala1066=)	2175	FANCA	Benign/Likely benign	17227071	RCV000862980\|RCV001276505\|RCV001816951;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89816179	89816179	16:g.89816179A>G	-
NM_000135.4(FANCA):c.3197C>T (p.Ala1066Val)	2175	FANCA	Uncertain significance	1419279017	RCV000702739\|RCV002485735\|RCV003223672;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89816180	89816180	16:g.89816180G>A	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3196G>C (p.Ala1066Pro)	2175	FANCA	Uncertain significance	556235245	RCV001240675\|RCV002484318;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816181	89816181	16:g.89816181C>G	-
NM_000135.4(FANCA):c.3193G>A (p.Val1065Met)	2175	FANCA	Conflicting interpretations of pathogenicity	140124051	RCV001043224\|RCV002481901;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816184	89816184	16:g.89816184C>T	-
NM_000135.4(FANCA):c.3192C>T (p.Ser1064=)	2175	FANCA	Likely benign	768502785	RCV001399693\|RCV002499845;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816185	89816185	89816185	-
NM_000135.4(FANCA):c.3190A>G (p.Ser1064Gly)	2175	FANCA	Uncertain significance	1014152202	RCV001120050;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816187	89816187	16:g.89816187T>C	-
NM_000135.4(FANCA):c.3189G>A (p.Trp1063Ter)	2175	FANCA	Pathogenic	776391208	RCV001389972\|RCV003469766;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816188	89816188	89816188	-
NM_000135.4(FANCA):c.3188G>A (p.Trp1063Ter)	2175	FANCA	Pathogenic	1166286386	RCV000630824\|RCV001256513;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816189	89816189	NC_000016.9:g.89816189C>T	ClinGen:CA397486523	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3166_3185dup (p.Gly1062_Trp1063insSerArgLeuTer)	2175	FANCA	Pathogenic	2038517512	RCV001256512;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816191	89816192	16:g.89816191_89816192insCCGCTTGTCAGAGCCTGGAG	-
NM_000135.4(FANCA):c.3184_3186delinsTGCC (p.Gly1062fs)	2175	FANCA	Likely pathogenic	2143138507	RCV001781080;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816191	89816193	89816191	-
NM_000135.4(FANCA):c.3184G>A (p.Gly1062Arg)	2175	FANCA	Uncertain significance	142379991	RCV001248615\|RCV001563818\|RCV001819953;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89816193	89816193	16:g.89816193C>T	-
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=)	2175	FANCA	Conflicting interpretations of pathogenicity	1800346	RCV000458962\|RCV001276506\|RCV001764459\|RCV001821345;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374	16	89816194	89816194	NC_000016.9:g.89816194G>A	ClinGen:CA8251308	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3181A>G (p.Ser1061Gly)	2175	FANCA	Uncertain significance	369878171	RCV000458688\|RCV000765326\|RCV001821266;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89816196	89816196	NC_000016.9:g.89816196T>C	ClinGen:CA8251309	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3175C>G (p.Leu1059Val)	2175	FANCA	Uncertain significance	964650941	RCV001035930\|RCV001276508;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816202	89816202	16:g.89816202G>C	-
NM_000135.4(FANCA):c.3164G>T (p.Arg1055Leu)	2175	FANCA	Uncertain significance	1429943036	RCV000672291;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816213	89816213	16:g.89816213C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3164G>A (p.Arg1055Gln)	2175	FANCA	Pathogenic/Likely pathogenic	1429943036	RCV001256511\|RCV001879795\|RCV003405458;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|	16	89816213	89816213	16:g.89816213C>T	-
NM_000135.4(FANCA):c.3163C>T (p.Arg1055Trp)	2175	FANCA	Pathogenic/Likely pathogenic	753063086	RCV000670742\|RCV000809264;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89816214	89816214	NC_000016.9:g.89816214G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3157C>T (p.Arg1053Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	376103033	RCV000472481\|RCV001276510\|RCV001509531\|RCV001821268;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MedGen:CN169374	16	89816220	89816220	NC_000016.9:g.89816220G>A	ClinGen:CA8251319	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3155T>C (p.Phe1052Ser)	2175	FANCA	Uncertain significance	-1	RCV002292250;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816222	89816222	89816222	-
NM_000135.4(FANCA):c.3154T>C (p.Phe1052Leu)	2175	FANCA	Uncertain significance	-1	RCV003147171;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816223	89816223	NC_000016.9:g.89816223A>G	-
NM_000135.4(FANCA):c.3146_3147del (p.Leu1048_Phe1049insTer)	2175	FANCA	Pathogenic/Likely pathogenic	2143139166	RCV001817936\|RCV001869794\|RCV003470932;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816230	89816231	89816229	-
NM_000135.4(FANCA):c.3141_3146del (p.Leu1048_Phe1049del)	2175	FANCA	Uncertain significance	2038519209	RCV001256509;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816231	89816236	16:g.89816231_89816236del	-
NM_000135.4(FANCA):c.3144C>T (p.Leu1048=)	2175	FANCA	Likely benign	1302242291	RCV001417031\|RCV002499893;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816233	89816233	89816233	-
NM_000135.4(FANCA):c.3142dup (p.Leu1048fs)	2175	FANCA	Conflicting interpretations of pathogenicity	1405317971	RCV000779201;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816234	89816235	NC_000016.9:g.89816236dup	-
NM_000135.4(FANCA):c.3138C>T (p.His1046=)	2175	FANCA	Conflicting interpretations of pathogenicity	150884376	RCV000398509\|RCV001094409\|RCV003422277;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89816239	89816239	NC_000016.9:g.89816239G>A	ClinGen:CA8251322	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3136C>T (p.His1046Tyr)	2175	FANCA	Uncertain significance	747913731	RCV001320570\|RCV002476502;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816241	89816241	89816241	-
NM_000135.4(FANCA):c.3133G>T (p.Glu1045Ter)	2175	FANCA	Likely pathogenic	2038519770	RCV001263708;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816244	89816244	16:g.89816244C>A	-
NM_000135.4(FANCA):c.3130C>T (p.Gln1044Ter)	2175	FANCA	Pathogenic	1172710952	RCV001256508;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816247	89816247	16:g.89816247G>A	-
NM_000135.4(FANCA):c.3114C>T (p.Leu1038=)	2175	FANCA	Benign/Likely benign	55758861	RCV000307902\|RCV001094410\|RCV001820956;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89816263	89816263	NC_000016.9:g.89816263G>A	ClinGen:CA8251326	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3109C>A (p.Pro1037Thr)	2175	FANCA	Uncertain significance	771174892	RCV001120051\|RCV002556569;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89816268	89816268	16:g.89816268G>T	-
NM_000135.4(FANCA):c.3099C>A (p.Asp1033Glu)	2175	FANCA	Conflicting interpretations of pathogenicity	139289675	RCV000469035\|RCV001274568\|RCV001573434\|RCV003424019;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|	16	89816278	89816278	NC_000016.9:g.89816278G>T	ClinGen:CA8251332	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3096del (p.Asp1033fs)	2175	FANCA	Likely pathogenic	-1	RCV003460173;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816281	89816281		-
NM_000135.4(FANCA):c.3091C>T (p.Gln1031Ter)	2175	FANCA	Pathogenic	1270910813	RCV001256507\|RCV002570437;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89816286	89816286	16:g.89816286G>A	-
NM_000135.4(FANCA):c.3087G>A (p.Glu1029=)	2175	FANCA	Likely benign	35402142	RCV000863938\|RCV001280429\|RCV003413680;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89816290	89816290	16:g.89816290C>T	-
NM_000135.4(FANCA):c.3070A>G (p.Met1024Val)	2175	FANCA	Likely pathogenic	1567603987	RCV000761272;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816307	89816307	NC_000016.9:g.89816307T>C	-
NM_000135.4(FANCA):c.3069G>T (p.Glu1023Asp)	2175	FANCA	Uncertain significance	373986283	RCV000664840\|RCV001246740;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89816308	89816308	16:g.89816308C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3067-1G>A	2175	FANCA	Pathogenic	2038522097	RCV001256506;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816311	89816311	16:g.89816311C>T	-
NC_000016.10:g.(89749903_89752137)_(89758706_89761948)del	2175	FANCA	Uncertain significance	-1	RCV001256284;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816311	89828356	-1	-
NC_000016.10:g.(89749903_89752137)_(89792548_89795905)del	2175	FANCA	Pathogenic	-1	RCV001256567;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816311	89862313	-1	-
NC_000016.10:g.(89749903_89752137)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256431;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816311	89883065	-1	-
NC_000016.9:g.(89816311_89818545)_(89871801_89874701)del	2175	FANCA	Pathogenic	-1	RCV001256553;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816311	89874701	-1	-
NM_000135.4(FANCA):c.3067-4T>C	2175	FANCA	Benign	17227064	RCV000248298\|RCV000364832\|RCV001094411\|RCV001706289;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89816314	89816314	NC_000016.9:g.89816314A>G	ClinGen:CA8251343	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3067-23G>A	2175	FANCA	Benign	17227057	RCV000243751\|RCV001594886\|RCV003316333;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89816333	89816333	16:g.89816333C>T	ClinGen:CA8251344	CN169374 not specified;
NM_000135.2(FANCA):c.1007_3066del	2175	FANCA	Pathogenic	-1	RCV000003614;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89817632	89861789		dbVar:nssv7487160,OMIM:607139.0007	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.2(FANCA):c.(?_-42)_3066+281del	2175	FANCA	Pathogenic	-1	RCV001256430;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818265	89883065	-1	-
NM_000135.4(FANCA):c.3066+1G>T	2175	FANCA	Pathogenic/Likely pathogenic	587783028	RCV000144483;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818545	89818545	NC_000016.9:g.89818545C>A	ClinGen:CA270800	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.3066+1G>A	2175	FANCA	Likely pathogenic	587783028	RCV001256505\|RCV001377117;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89818545	89818545	16:g.89818545C>T	-
NC_000016.10:g.89752141_89762025del	2175	FANCA	Pathogenic	-1	RCV001256606;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818546	89828430		-
NM_000135.4(FANCA):c.3043_3051delinsCCTC (p.Glu1015fs)	2175	FANCA	Likely pathogenic	-1	RCV003468105;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818561	89818569		-
NM_000135.4(FANCA):c.3043G>A (p.Glu1015Lys)	2175	FANCA	Uncertain significance	1443921504	RCV001256504;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818569	89818569	16:g.89818569C>T	-
NM_000135.4(FANCA):c.3032G>A (p.Arg1011His)	2175	FANCA	Conflicting interpretations of pathogenicity	200022826	RCV000699108\|RCV001276512\|RCV001816722\|RCV003148833;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	16	89818580	89818580	NC_000016.9:g.89818580C>T	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys)	2175	FANCA	Benign/Likely benign	142377616	RCV000470025\|RCV001256403\|RCV003153654;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	16	89818581	89818581	NC_000016.9:g.89818581G>A	ClinGen:CA8251374	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3021_3027del (p.Phe1008fs)	2175	FANCA	Pathogenic	2038617702	RCV001256402;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818585	89818591	16:g.89818585_89818591del	-
NM_000135.4(FANCA):c.3017T>A (p.Leu1006Ter)	2175	FANCA	Likely pathogenic	2038618125	RCV001263709;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818595	89818595	16:g.89818595A>T	-
NM_000135.4(FANCA):c.3008A>G (p.Asn1003Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	757175768	RCV002097701\|RCV003154060;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818604	89818604	89818604	-
NM_000135.4(FANCA):c.3000C>G (p.His1000Gln)	2175	FANCA	Uncertain significance	750421982	RCV000532839\|RCV001330801\|RCV001821478;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89818612	89818612	NC_000016.9:g.89818612G>C	ClinGen:CA8251382	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2994T>G (p.Tyr998Ter)	2175	FANCA	Likely pathogenic	-1	RCV002306708\|RCV003395454;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89818618	89818618	89818618	-
NM_000135.4(FANCA):c.2993dup (p.Tyr998Ter)	2175	FANCA	Likely pathogenic	-1	RCV003389376;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818618	89818619		-
NM_000135.4(FANCA):c.2990_2993del (p.Ser997fs)	2175	FANCA	Likely pathogenic	1555540048	RCV000666441;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818619	89818622	16:g.89818619_89818622del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2989A>T (p.Ser997Cys)	2175	FANCA	Uncertain significance	2038619848	RCV001256401;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818623	89818623	16:g.89818623T>A	-
NM_000135.4(FANCA):c.2984C>G (p.Ser995Ter)	2175	FANCA	Likely pathogenic	-1	RCV003460157;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818628	89818628		-
NM_000135.4(FANCA):c.2982C>G (p.Ser994Arg)	2175	FANCA	Uncertain significance	1555540072	RCV000671209;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818630	89818630	16:g.89818630G>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2982-1G>C	2175	FANCA	Likely pathogenic	1555540076	RCV000669707\|RCV000688900;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89818631	89818631	16:g.89818631C>G	-	C0015625 Fanconi anemia;
NC_000016.10:g.(89752223_89758576)_(89762023_89764889)del	2175	FANCA	Pathogenic	-1	RCV001256605;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818631	89831297	-1	-
NC_000016.10:g.(89752223_89758576)_(89765067_89767140)del	2175	FANCA	Uncertain significance	-1	RCV001256497;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818631	89833548	-1	-
NC_000016.10:g.(89752223_89758576)_(89767238_89769836)del	2175	FANCA	Pathogenic	-1	RCV001256383;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818631	89836244	-1	-
NC_000016.10:g.(89752223_89758576)_(89773385_89775741)del	2175	FANCA	Pathogenic	-1	RCV001256380;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818631	89842149	-1	-
NC_000016.10:g.(89752223_89758576)_(89775816_89778800)del	2175	FANCA	Uncertain significance	-1	RCV001256376;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818631	89845208	-1	-
NC_000016.10:g.(89752223_89758576)_(89783103_89784853)del	2175	FANCA	Uncertain significance	-1	RCV001256481;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818631	89851261	-1	-
NC_000016.10:g.(89752223_89758576)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256429;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818631	89883065	-1	-
GRCh37/hg19 16q24.3(chr16:89818649-89883044)	2175	FANCA	Pathogenic	-1	RCV003236735;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818649	89883044		-
NM_000135.4(FANCA):c.2982-192A>G	2175	FANCA	Pathogenic	2038628210	RCV001256396;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89818822	89818822	16:g.89818822T>C	-
NC_000016.10:g.89754008_89816657del	2175	FANCA	Pathogenic	-1	RCV001256428;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89820416	89883065	-1	-
NM_000135.4(FANCA):c.2981+4dup	2175	FANCA	Conflicting interpretations of pathogenicity	75004096	RCV000231103\|RCV001276513\|RCV002478831;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89824980	89824981	16:g.89824980_89824981insT	ClinGen:CA8251414	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2981+1G>A	2175	FANCA	Likely pathogenic	1555542860	RCV000668546;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89824984	89824984	16:g.89824984C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2977C>A (p.Gln993Lys)	2175	FANCA	Conflicting interpretations of pathogenicity	140823801	RCV000120936\|RCV000862981\|RCV001276514;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89824989	89824989	16:g.89824989G>T	ClinGen:CA159299	CN169374 not specified;
NM_000135.4(FANCA):c.2975A>T (p.His992Leu)	2175	FANCA	Uncertain significance	184007986	RCV000630885\|RCV001280430;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89824991	89824991	16:g.89824991T>A	ClinGen:CA286549085	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2968G>A (p.Asp990Asn)	2175	FANCA	Uncertain significance	1060501883	RCV000475702\|RCV001821267\|RCV002489044;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89824998	89824998	NC_000016.9:g.89824998C>T	ClinGen:CA16615033	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2964G>C (p.Leu988=)	2175	FANCA	Likely benign	751495133	RCV001395715\|RCV002504664;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825002	89825002	89825002	-
NM_000135.4(FANCA):c.2959G>C (p.Ala987Pro)	2175	FANCA	Uncertain significance	752735858	RCV000544397\|RCV000670654;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825007	89825007	16:g.89825007C>G	ClinGen:CA397430998	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2958C>T (p.Asn986=)	2175	FANCA	Conflicting interpretations of pathogenicity	368953287	RCV000272707\|RCV001094412\|RCV002480144;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89825008	89825008	NC_000016.9:g.89825008G>A	ClinGen:CA8251423	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2949T>G (p.Ile983Met)	2175	FANCA	Conflicting interpretations of pathogenicity	188695241	RCV000792471\|RCV001816841\|RCV001276515;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825017	89825017	16:g.89825017A>C	-
NM_000135.4(FANCA):c.2944A>G (p.Thr982Ala)	2175	FANCA	Uncertain significance	587778317	RCV000120934\|RCV000668002\|RCV000812362\|RCV003456364;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89825022	89825022	NC_000016.9:g.89825022T>C	ClinGen:CA159293	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2941T>C (p.Cys981Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	191943709	RCV000210699\|RCV000458460\|RCV000675145;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825025	89825025	16:g.89825025A>G	ClinGen:CA358217	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2939C>T (p.Ala980Val)	2175	FANCA	Uncertain significance	773070418	RCV000630913\|RCV001800834\|RCV002269293\|RCV002492948;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825027	89825027	NC_000016.9:g.89825027G>A	ClinGen:CA8251431	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2938G>C (p.Ala980Pro)	2175	FANCA	Uncertain significance	2038841366	RCV001255873;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825028	89825028	16:g.89825028C>G	-
NM_000135.4(FANCA):c.2937T>C (p.Ala979=)	2175	FANCA	Likely benign	762638564	RCV001476379\|RCV002495709;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825029	89825029	89825029	-
NM_000135.4(FANCA):c.2923G>A (p.Gly975Arg)	2175	FANCA	Uncertain significance	369565161	RCV001943347\|RCV002484477;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825043	89825043	89825043	-
NM_000135.4(FANCA):c.2915del (p.Gly972fs)	2175	FANCA	Likely pathogenic	-1	RCV003340692;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825051	89825051		-
NM_000135.4(FANCA):c.2910del (p.Gly972fs)	2175	FANCA	Pathogenic/Likely pathogenic	1278836130	RCV000674373\|RCV001009221;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89825056	89825056	NC_000016.9:g.89825056del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2904G>A (p.Ser968=)	2175	FANCA	Likely benign	568354015	RCV000705864\|RCV001274569;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825062	89825062	NC_000016.9:g.89825062C>T	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2903C>T (p.Ser968Leu)	2175	FANCA	Uncertain significance	779162871	RCV000227140\|RCV000673348;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825063	89825063	16:g.89825063G>A	ClinGen:CA8251443	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2901C>T (p.Ser967=)	2175	FANCA	Benign	17226980	RCV000251740\|RCV000302119\|RCV001094413\|RCV001706288;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89825065	89825065	NC_000016.9:g.89825065G>A	ClinGen:CA8251444	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2880T>A (p.His960Gln)	2175	FANCA	Uncertain significance	2038843708	RCV001120357;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825086	89825086	16:g.89825086A>T	-
NM_000135.4(FANCA):c.2874G>A (p.Ala958=)	2175	FANCA	Likely benign	199916178	RCV001280431\|RCV001503585;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89825092	89825092	16:g.89825092C>T	-
NM_000135.4(FANCA):c.2872del (p.Ala958fs)	2175	FANCA	Uncertain significance	2038844082	RCV001256393;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825094	89825094	16:g.89825094_89825094del	-
NM_000135.4(FANCA):c.2870G>A (p.Trp957Ter)	2175	FANCA	Pathogenic	927630499	RCV000667724\|RCV002530721;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89825096	89825096	16:g.89825096C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2866C>T (p.Gln956Ter)	2175	FANCA	Pathogenic	2038844292	RCV001256392;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825100	89825100	16:g.89825100G>A	-
NM_000135.4(FANCA):c.2862C>G (p.Phe954Leu)	2175	FANCA	Uncertain significance	2038844439	RCV001280432\|RCV001300103;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89825104	89825104	16:g.89825104G>C	-
NM_000135.4(FANCA):c.2859C>A (p.Asp953Glu)	2175	FANCA	Conflicting interpretations of pathogenicity	149112292	RCV000120935\|RCV000667206\|RCV000872247;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89825107	89825107	16:g.89825107G>T	ClinGen:CA159296	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu)	2175	FANCA	Conflicting interpretations of pathogenicity	149112292	RCV000431238\|RCV001080884\|RCV001120358\|RCV001821151;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89825107	89825107	16:g.89825107G>C	ClinGen:CA8251450	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2856G>C (p.Gln952His)	2175	FANCA	Conflicting interpretations of pathogenicity	200093209	RCV000555471\|RCV001821477\|RCV002254702;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825110	89825110	NC_000016.9:g.89825110C>G	ClinGen:CA8251452	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2853-15_2856del	2175	FANCA	Pathogenic/Likely pathogenic	1285346388	RCV000664679\|RCV001384022;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89825110	89825128	16:g.89825110_89825128del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2854C>T (p.Gln952Ter)	2175	FANCA	Pathogenic	2038844790	RCV001256391;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825112	89825112	16:g.89825112G>A	-
NC_000016.10:g.(89758706_89761948)_(89765067_89767140)del	2175	FANCA	Pathogenic	-1	RCV001256496;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825114	89833548	-1	-
NC_000016.10:g.(89758706_89761948)_(89771815_89773270)del	2175	FANCA	Uncertain significance	-1	RCV001256485;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825114	89839678	-1	-
NC_000016.10:g.(89758706_89761948)_(89773385_89775741)del	2175	FANCA	Pathogenic	-1	RCV001256379;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825114	89842149	-1	-
NC_000016.10:g.(89758706_89761948)_(89775816_89778800)del	2175	FANCA	Pathogenic	-1	RCV001256375;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825114	89845208	-1	-
NC_000016.10:g.(89758706_89761948)_(89779958_89782858)del	2175	FANCA	Pathogenic	-1	RCV001256250;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825114	89849266	-1	-
NC_000016.10:g.(89758706_89761948)_(89784965_89791402)del	2175	FANCA	Uncertain significance	-1	RCV001256363;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825114	89857810	-1	-
NC_000016.10:g.(89758706_89761948)_(89805393_89808293)del	2175	FANCA	Uncertain significance	-1	RCV001256552;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825114	89874701	-1	-
NC_000016.9:g.(89825114_89828356)_(89877480_89880927)del	2175	FANCA	Pathogenic	-1	RCV001256334;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825114	89880927	-1	-
NM_000135.4(FANCA):c.2853-2A>C	2175	FANCA	Pathogenic/Likely pathogenic	947311062	RCV000673183\|RCV001816680\|RCV001240902;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89825115	89825115	16:g.89825115T>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2853-4C>A	2175	FANCA	Likely benign	1289126600	RCV001437569\|RCV002504722;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825117	89825117	89825117	-
NM_000135.4(FANCA):c.2853-8T>C	2175	FANCA	Uncertain significance	2038845082	RCV001277940;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89825121	89825121	16:g.89825121A>G	-
NM_000135.4(FANCA):c.2852+13A>T	2175	FANCA	Likely benign	189890126	RCV002129941\|RCV002500069;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828344	89828344	89828344	-
NM_000135.4(FANCA):c.2852+12A>T	2175	FANCA	Uncertain significance	2038966561	RCV001120359;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828345	89828345	16:g.89828345T>A	-
NM_000135.4(FANCA):c.2852+1dup	2175	FANCA	Pathogenic/Likely pathogenic	-1	RCV003066892\|RCV003465943;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828355	89828356	NC_000016.9:g.89828357dup	-
NM_000135.4(FANCA):c.2852+1del	2175	FANCA	Pathogenic	-1	RCV002283852;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828356	89828356	89828355	-
NM_000135.4(FANCA):c.2852G>A (p.Arg951Gln)	2175	FANCA	Pathogenic/Likely pathogenic	755922289	RCV000630961\|RCV000666705\|RCV001569733;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89828357	89828357	NC_000016.9:g.89828357C>T	ClinGen:CA8251481	C0015625 Fanconi anemia;
NM_000135.2(FANCA):c.2779_2852del	2175	FANCA	Pathogenic	2038967116	RCV001256604;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828357	89828430	16:g.89828357_89828430del	-
NM_000135.4(FANCA):c.2851C>T (p.Arg951Trp)	2175	FANCA	Pathogenic/Likely pathogenic	755546887	RCV000466964\|RCV000669024;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828358	89828358	NC_000016.9:g.89828358G>A	ClinGen:CA8251482	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2848G>T (p.Glu950Ter)	2175	FANCA	Likely pathogenic	2038967261	RCV001263710;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828361	89828361	16:g.89828361C>A	-
NM_000135.4(FANCA):c.2827_2845dup (p.Thr949delinsSerTer)	2175	FANCA	Pathogenic	2038967521	RCV001256279;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828363	89828364	16:g.89828363_89828364insTATCTGAAAGAGCATCAGC	-
NM_000135.4(FANCA):c.2843A>T (p.Asp948Val)	2175	FANCA	Uncertain significance	193172749	RCV001294421\|RCV002486109;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828366	89828366	89828366	-
NM_000135.4(FANCA):c.2839dup (p.Ser947fs)	2175	FANCA	Pathogenic	756367276	RCV000168438\|RCV000239378;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828369	89828370	NC_000016.9:g.89828372dup	ClinGen:CA334762	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2840C>G (p.Ser947Ter)	2175	FANCA	Pathogenic	745568821	RCV000674491\|RCV000817200\|RCV003163071;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89828369	89828369	NC_000016.9:g.89828369G>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2812_2830dup (p.Asp944delinsGlyAsnSerThrTer)	2175	FANCA	Pathogenic	1283284704	RCV000667760\|RCV001065334\|RCV001816670;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89828378	89828379	16:g.89828378_89828379insCAGCTTCAGGTTGAATTTC	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2807A>G (p.Glu936Gly)	2175	FANCA	Pathogenic	766643461	RCV001066000\|RCV001256277\|RCV002274132;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89828402	89828402	16:g.89828402T>C	-
NM_000135.4(FANCA):c.2806G>A (p.Glu936Lys)	2175	FANCA	Pathogenic	2038968872	RCV001256276;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828403	89828403	16:g.89828403C>T	-
NM_000135.4(FANCA):c.2799A>G (p.Leu933=)	2175	FANCA	Conflicting interpretations of pathogenicity	148250597	RCV000234002\|RCV001094432\|RCV001818560;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89828410	89828410	16:g.89828410T>C	ClinGen:CA8251499	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2794T>C (p.Trp932Arg)	2175	FANCA	Pathogenic	2038969261	RCV001256275;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828415	89828415	16:g.89828415A>G	-
NM_000135.4(FANCA):c.2786A>C (p.Tyr929Ser)	2175	FANCA	Uncertain significance	2038969615	RCV001344858\|RCV003448396;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828423	89828423	89828423	-
NC_000016.10:g.(89762023_89764889)_(89765067_89767140)del	2175	FANCA	Pathogenic	-1	RCV001256495;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828431	89833548	-1	-
NC_000016.10:g.(89762023_89764889)_(89770635_89771677)del	2175	FANCA	Pathogenic	-1	RCV001256586;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828431	89838085	-1	-
NC_000016.10:g.(89762023_89764889)_(89773385_89775741)del	2175	FANCA	Pathogenic	-1	RCV001256378;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828431	89842149	-1	-
NC_000016.10:g.(89762023_89764889)_(89775816_89778800)del	2175	FANCA	Pathogenic	-1	RCV001256374;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828431	89845208	-1	-
NC_000016.10:g.(89762023_89764889)_(89784965_89791402)del	2175	FANCA	Pathogenic	-1	RCV001256362;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828431	89857810	-1	-
NM_000135.4(FANCA):c.2779-5C>G	2175	FANCA	Likely benign	753286882	RCV002157946\|RCV002494323;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89828435	89828435	89828435	-
NM_000135.4(FANCA):c.2779-7T>C	2175	FANCA	Benign	17233253	RCV000247204\|RCV000266830\|RCV001094433\|RCV001722284;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89828437	89828437	NC_000016.9:g.89828437A>G	ClinGen:CA8251504	C0015625 Fanconi anemia;
Single allele	2175	FANCA	Likely pathogenic	-1	RCV000454211;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89829945	89836293	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_000135.4(FANCA):c.2151+328_2778+1085del	2175	FANCA	Pathogenic	-1	RCV001256585;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89830213	89837758	NC_000016.9:g.89830215_89837760del	-
NM_000135.4(FANCA):c.2778+83C>G	2175	FANCA	Conflicting interpretations of pathogenicity	750997715	RCV000667523\|RCV002532064;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831215	89831215	16:g.89831215G>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2778+12T>C	2175	FANCA	Likely benign	775047268	RCV001949674\|RCV002492136;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831286	89831286	89831286	-
NM_000135.4(FANCA):c.2778+10C>T	2175	FANCA	Conflicting interpretations of pathogenicity	371786839	RCV000324259\|RCV001094434\|RCV001256603;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89831288	89831288	NC_000016.9:g.89831288G>A	ClinGen:CA8251569	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2778+2T>C	2175	FANCA	Pathogenic/Likely pathogenic	1458001028	RCV000671287\|RCV001235351;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831296	89831296	16:g.89831296A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2778+1G>A	2175	FANCA	Pathogenic	140180549	RCV000786986\|RCV000811488\|RCV002269312;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89831297	89831297	16:g.89831297C>T	-
NM_000135.4(FANCA):c.2778+1G>T	2175	FANCA	Pathogenic	140180549	RCV001256601;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831297	89831297	16:g.89831297C>A	-
NM_000135.4(FANCA):c.2778+1G>C	2175	FANCA	Pathogenic	140180549	RCV001256602\|RCV001389973;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831297	89831297	16:g.89831297C>G	-
NM_000135.4(FANCA):c.2763_2769del (p.Glu922fs)	2175	FANCA	Pathogenic/Likely pathogenic	1555545421	RCV000668571\|RCV001855502;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831307	89831313	16:g.89831307_89831313del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2762A>T (p.Lys921Ile)	2175	FANCA	Likely pathogenic	879255255	RCV000239379;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831314	89831314	16:g.89831314T>A	ClinGen:CA10575737	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2749C>T (p.Arg917Ter)	2175	FANCA	Pathogenic	1060501880	RCV000465485\|RCV001091061\|RCV003243136;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831327	89831327	NC_000016.9:g.89831327G>A	ClinGen:CA16615452	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2741G>C (p.Arg914Thr)	2175	FANCA	Uncertain significance	748454613	RCV000820544\|RCV002487832;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831335	89831335	16:g.89831335C>G	-
NM_000135.4(FANCA):c.2738A>C (p.His913Pro)	2175	FANCA	Pathogenic/Likely pathogenic	1302083447	RCV000671893\|RCV000796523\|RCV001816676;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89831338	89831338	NC_000016.9:g.89831338T>G	-
NM_000135.4(FANCA):c.2736dup (p.His913fs)	2175	FANCA	Pathogenic	2039074823	RCV001256600;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831339	89831340	16:g.89831339_89831340insT	-
NM_000135.4(FANCA):c.2735C>T (p.Thr912Ile)	2175	FANCA	Conflicting interpretations of pathogenicity	376302719	RCV001820474\|RCV002489878\|RCV002542628\|RCV003394276;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|	16	89831341	89831341	89831341	-
NM_000135.4(FANCA):c.2734A>C (p.Thr912Pro)	2175	FANCA	Uncertain significance	1220495259	RCV001070445\|RCV002505658;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831342	89831342	16:g.89831342T>G	-
NM_000135.4(FANCA):c.2730_2731del (p.Trp911fs)	2175	FANCA	Pathogenic	878853663	RCV000231136\|RCV001256599;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831345	89831346	16:g.89831345_89831346del	ClinGen:CA10583437	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2729T>C (p.Leu910Pro)	2175	FANCA	Uncertain significance	-1	RCV003388674;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831347	89831347		-
NM_000135.4(FANCA):c.2728C>T (p.Leu910Phe)	2175	FANCA	Conflicting interpretations of pathogenicity	1216426444	RCV000656367\|RCV000656369;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|Human Phenotype Ontology:HP:0003006,Human Phenotype Ontology:HP:0006738,MONDO:MONDO:0005072,MeSH:D009447,MedGen:C0027819, Orphanet:635	16	89831348	89831348	NC_000016.9:g.89831348G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2728C>A (p.Leu910Ile)	2175	FANCA	Uncertain significance	1216426444	RCV002004380\|RCV002486661;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831348	89831348	89831348	-
NM_000135.4(FANCA):c.2723T>C (p.Leu908Pro)	2175	FANCA	Pathogenic	2039075542	RCV001256598;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831353	89831353	16:g.89831353A>G	-
NM_000135.4(FANCA):c.2708G>A (p.Trp903Ter)	2175	FANCA	Pathogenic	1354272260	RCV001256597\|RCV001879801;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831368	89831368	16:g.89831368C>T	-
NM_000135.4(FANCA):c.2706C>G (p.Asp902Glu)	2175	FANCA	Uncertain significance	587778315	RCV000120932\|RCV000531167\|RCV000765327;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831370	89831370	16:g.89831370G>C	ClinGen:CA159287	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2704G>C (p.Asp902His)	2175	FANCA	Uncertain significance	1009521389	RCV001312942\|RCV002499600;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831372	89831372	89831372	-
NM_000135.4(FANCA):c.2681G>A (p.Arg894Lys)	2175	FANCA	Uncertain significance	587778316	RCV000120933\|RCV000668462\|RCV002514634;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831395	89831395	16:g.89831395C>T	ClinGen:CA159290	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2679G>A (p.Trp893Ter)	2175	FANCA	Pathogenic	2143288874	RCV002254009;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831397	89831397	89831397	-
NM_000135.4(FANCA):c.2678G>A (p.Trp893Ter)	2175	FANCA	Pathogenic	2039077331	RCV001256596\|RCV002570438;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831398	89831398	16:g.89831398C>T	-
NM_000135.4(FANCA):c.2674del (p.Ser892fs)	2175	FANCA	Pathogenic	2039077507	RCV001256595;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831402	89831402	16:g.89831402_89831402del	-
NM_000135.4(FANCA):c.2671C>T (p.Leu891Phe)	2175	FANCA	Uncertain significance	-1	RCV003147170;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831405	89831405	NC_000016.9:g.89831405G>A	-
NM_000135.4(FANCA):c.2667del (p.Ser890fs)	2175	FANCA	Pathogenic/Likely pathogenic	1555545517	RCV000665563\|RCV001008375\|RCV001382564;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831409	89831409	16:g.89831409_89831409del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2662G>A (p.Val888Ile)	2175	FANCA	Conflicting interpretations of pathogenicity	774863156	RCV001204506\|RCV002480666;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831414	89831414	16:g.89831414C>T	-
NM_000135.4(FANCA):c.2658G>C (p.Glu886Asp)	2175	FANCA	Conflicting interpretations of pathogenicity	139002130	RCV000542670\|RCV001120360\|RCV001562680\|RCV003409764;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|	16	89831418	89831418	16:g.89831418C>G	ClinGen:CA8251602	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2650del (p.Ser884fs)	2175	FANCA	Likely pathogenic	-1	RCV003460175;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831426	89831426		-
NM_000135.4(FANCA):c.2648T>A (p.Leu883His)	2175	FANCA	Likely benign	879255256	RCV000239376;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831428	89831428	NC_000016.9:g.89831428A>T	ClinGen:CA10575738	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2647_2648del (p.Leu883fs)	2175	FANCA	Likely pathogenic	-1	RCV003460174;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831428	89831429		-
NM_000135.4(FANCA):c.2641C>T (p.Gln881Ter)	2175	FANCA	Pathogenic	2039078843	RCV001067317\|RCV001256594;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831435	89831435	16:g.89831435G>A	-
NM_000135.4(FANCA):c.2639G>A (p.Arg880Gln)	2175	FANCA	Conflicting interpretations of pathogenicity	372254398	RCV000671284\|RCV000803258;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831437	89831437	NC_000016.9:g.89831437C>T	OMIM:607139.0013
NM_000135.4(FANCA):c.2638C>T (p.Arg880Ter)	2175	FANCA	Conflicting interpretations of pathogenicity	762804216	RCV001038114\|RCV001256503\|RCV001293873;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	16	89831438	89831438	16:g.89831438G>A	-
NM_000135.4(FANCA):c.2637C>T (p.Ala879=)	2175	FANCA	Conflicting interpretations of pathogenicity	149435806	RCV000549123\|RCV001120361;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831439	89831439	16:g.89831439G>A	ClinGen:CA8251608	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2636C>T (p.Ala879Val)	2175	FANCA	Pathogenic	375919830	RCV001256502;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831440	89831440	16:g.89831440G>A	-
NM_000135.4(FANCA):c.2632_2633delinsCG (p.Glu878Arg)	2175	FANCA	Uncertain significance	2039079300	RCV001330800;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831443	89831444	89831443	-
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)	2175	FANCA	Likely pathogenic	1017086086	RCV001256501;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831444	89831444	16:g.89831444C>G	-
NM_000135.4(FANCA):c.2630_2631del (p.Phe876_Ser877insTer)	2175	FANCA	Likely pathogenic	1555545553	RCV000672696;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831445	89831446	16:g.89831445_89831446del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2628C>A (p.Phe876Leu)	2175	FANCA	Likely benign	368987148	RCV000239377;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831448	89831448	NC_000016.9:g.89831448G>T	ClinGen:CA10575739	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2604_2609del	2175	FANCA	Conflicting interpretations of pathogenicity	-1	RCV001256500\|RCV001879793;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831467	89831472		-
NM_000135.4(FANCA):c.2606A>C (p.Gln869Pro)	2175	FANCA	Pathogenic/Likely pathogenic	780825099	RCV000199923\|RCV000674142\|RCV001091062\|RCV002252053;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|	16	89831470	89831470	16:g.89831470T>G	ClinGen:CA338977,UniProtKB:O15360#VAR_038016	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2605C>T (p.Gln869Ter)	2175	FANCA	Likely pathogenic	-1	RCV003468115;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831471	89831471		-
NM_000135.4(FANCA):c.2602T>G (p.Phe868Val)	2175	FANCA	Uncertain significance	1555545588	RCV000669647;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831474	89831474	16:g.89831474A>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2602-1G>A	2175	FANCA	Pathogenic	747823528	RCV001256494\|RCV001389974;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831475	89831475	16:g.89831475C>T	-
NC_000016.10:g.(89765067_89767140)_(89803342_89805279)del	2175	FANCA	Pathogenic	-1	RCV001256226;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831475	89871687	-1	-
NM_000135.4(FANCA):c.2602-2A>T	2175	FANCA	Pathogenic	1555545592	RCV000671414\|RCV002531281;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831476	89831476	16:g.89831476T>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2602-2A>G	2175	FANCA	Uncertain significance	1555545592	RCV001256492;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831476	89831476	16:g.89831476T>C	-
NM_000135.4(FANCA):c.2602-2A>C	2175	FANCA	Pathogenic/Likely pathogenic	1555545592	RCV001256493\|RCV002570436;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89831476	89831476	16:g.89831476T>G	-
NM_000135.4(FANCA):c.2602-13CT[2]	2175	FANCA	Conflicting interpretations of pathogenicity	577636020	RCV000227314\|RCV000858161\|RCV001523811\|RCV001800586;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89831482	89831483	NC_000016.9:g.89831482AG[2]	ClinGen:CA8251625	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2602-14A>C	2175	FANCA	Uncertain significance	886052483	RCV000261053;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831488	89831488	NC_000016.9:g.89831488T>G	ClinGen:CA10644643	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2602-16T>G	2175	FANCA	Likely benign	762865666	RCV002143301\|RCV002500286;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831490	89831490	89831490	-
NM_000135.4(FANCA):c.2602-18G>C	2175	FANCA	Likely benign	774316884	RCV002100467\|RCV002499931;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831492	89831492	89831492	-
NM_000135.4(FANCA):c.2602-19G>C	2175	FANCA	Benign/Likely benign	17233225	RCV000247581\|RCV002057312\|RCV002494696;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831493	89831493	NC_000016.9:g.89831493C>G	ClinGen:CA8251630	CN169374 not specified;
NM_000135.4(FANCA):c.2602-36G>T	2175	FANCA	Benign	2159116	RCV000252136\|RCV001537682;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831510	89831510	NC_000016.9:g.89831510C>A	ClinGen:CA8251642	CN169374 not specified;
NM_000135.4(FANCA):c.2602-46T>A	2175	FANCA	Benign	11076620	RCV000242198\|RCV003316332;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89831520	89831520	16:g.89831520A>T	ClinGen:CA8251649	CN169374 not specified;
NM_000135.4(FANCA):c.2601+1G>T	2175	FANCA	Pathogenic/Likely pathogenic	1188581065	RCV000502863\|RCV001851411;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89833548	89833548	NC_000016.9:g.89833548C>A	ClinGen:CA397440342	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2601G>C (p.Lys867Asn)	2175	FANCA	Uncertain significance	746889340	RCV000474702\|RCV002489043;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833549	89833549	NC_000016.9:g.89833549C>G	ClinGen:CA16615023	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2601G>T (p.Lys867Asn)	2175	FANCA	Uncertain significance	746889340	RCV001256388\|RCV003399022;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89833549	89833549	16:g.89833549C>A	-
NM_000135.4(FANCA):c.2594_2595del (p.Ile865fs)	2175	FANCA	Likely pathogenic	-1	RCV003460145;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833555	89833556		-
NM_000135.4(FANCA):c.2593A>G (p.Ile865Val)	2175	FANCA	Uncertain significance	878853662	RCV000233473\|RCV000672516;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833557	89833557	NC_000016.9:g.89833557T>C	ClinGen:CA10583438	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2589C>A (p.Gly863=)	2175	FANCA	Conflicting interpretations of pathogenicity	72807571	RCV000538744\|RCV001115462\|RCV001800737;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89833561	89833561	NC_000016.9:g.89833561G>T	ClinGen:CA8251673	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2587G>A (p.Gly863Ser)	2175	FANCA	Uncertain significance	2039157272	RCV001040315\|RCV003153902;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833563	89833563	16:g.89833563C>T	-
NM_000135.4(FANCA):c.2582C>T (p.Ser861Phe)	2175	FANCA	Uncertain significance	980582362	RCV000670494\|RCV001052202;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89833568	89833568	16:g.89833568G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2574C>G (p.Ser858Arg)	2175	FANCA	Benign/Likely benign	17233141	RCV000120929\|RCV000202580\|RCV000206151\|RCV000514362;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89833576	89833576	16:g.89833576G>C	ClinGen:CA212608,UniProtKB:O15360#VAR_017498	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2570G>A (p.Cys857Tyr)	2175	FANCA	Uncertain significance	886052484	RCV000375449\|RCV002522898;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89833580	89833580	NC_000016.9:g.89833580C>T	ClinGen:CA10649312	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2567T>C (p.Leu856Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	370085403	RCV000120931\|RCV000668295\|RCV000766439\|RCV001447411\|RCV003398726;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|	16	89833583	89833583	16:g.89833583A>G	ClinGen:CA159284	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2557C>T (p.Arg853Ter)	2175	FANCA	Pathogenic/Likely pathogenic	752160950	RCV000173013\|RCV000630944;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89833593	89833593	NC_000016.9:g.89833593G>A	ClinGen:CA274891,OMIM:607139.0011	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2555C>A (p.Ser852Ter)	2175	FANCA	Pathogenic	761469030	RCV001246892\|RCV001780186\|RCV003117864;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89833595	89833595	16:g.89833595G>T	-
NM_000135.4(FANCA):c.2546del (p.Ser849fs)	2175	FANCA	Pathogenic	1060501876	RCV000470001\|RCV001271597;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833604	89833604	NC_000016.9:g.89833604del	ClinGen:CA16615454	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2535_2536del (p.Cys846fs)	2175	FANCA	Pathogenic	763378933	RCV000665703\|RCV000798970\|RCV002252201;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|	16	89833614	89833615	NC_000016.9:g.89833614AG[3]	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2533_2536del (p.Leu845fs)	2175	FANCA	Pathogenic	763378933	RCV000761290;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833614	89833617	16:g.89833614_89833617del	-
NM_000135.4(FANCA):c.2534T>C (p.Leu845Pro)	2175	FANCA	Pathogenic/Likely pathogenic	1173704265	RCV000671953\|RCV001047569\|RCV001816677;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89833616	89833616	16:g.89833616A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2529C>A (p.Tyr843Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1247378731	RCV000672395\|RCV001384720;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89833621	89833621	NC_000016.9:g.89833621G>T	-
NM_000135.4(FANCA):c.2529C>G (p.Tyr843Ter)	2175	FANCA	Pathogenic	1247378731	RCV001292921;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833621	89833621	89833621	-
NM_000135.4(FANCA):c.2527T>G (p.Tyr843Asp)	2175	FANCA	Pathogenic	374030577	RCV001256387;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833623	89833623	16:g.89833623A>C	-
NM_000135.4(FANCA):c.2524del (p.Ser842fs)	2175	FANCA	Pathogenic/Likely pathogenic	1205909298	RCV000670835\|RCV001058321;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89833626	89833626	16:g.89833626_89833626del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2519C>G (p.Ala840Gly)	2175	FANCA	Uncertain significance	587778313	RCV000120928\|RCV000671626\|RCV001854625;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89833631	89833631	16:g.89833631G>C	ClinGen:CA159278	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2513C>G (p.Thr838Arg)	2175	FANCA	Pathogenic	1216922486	RCV001256386;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833637	89833637	16:g.89833637G>C	-
NM_000135.4(FANCA):c.2507T>A (p.Phe836Tyr)	2175	FANCA	Uncertain significance	142869950	RCV000685867\|RCV002485592;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833643	89833643	NC_000016.9:g.89833643A>T	-	C0015625 Fanconi anemia;
NC_000016.10:g.(89767238_89769836)_(89775816_89778800)del	2175	FANCA	Pathogenic	-1	RCV001256373;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833646	89845208	-1	-
NC_000016.10:g.(89767238_89769836)_(89783103_89784853)del	2175	FANCA	Pathogenic	-1	RCV001256480;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833646	89851261	-1	-
NC_000016.10:g.(89767238_89769836)_(89811072_89814519)del	2175	FANCA	Uncertain significance	-1	RCV001256333;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833646	89880927	-1	-
NM_000135.4(FANCA):c.2505-2A>C	2175	FANCA	Likely pathogenic	-1	RCV003338115;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89833647	89833647		-
NM_000135.2(FANCA):c.1007-10_2504+209del	2175	FANCA	Pathogenic	-1	RCV001256563;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836036	89858965	-1	-
NM_000135.4(FANCA):c.2504+134A>G	2175	FANCA	Pathogenic	2039254077	RCV001256381;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836111	89836111	16:g.89836111T>C	-
NM_000135.4(FANCA):c.2504+12_2504+14del	2175	FANCA	Likely benign	1023581563	RCV002105543\|RCV002479907;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836231	89836233	89836230	-
NM_000135.4(FANCA):c.2504+6C>G	2175	FANCA	Conflicting interpretations of pathogenicity	749556479	RCV002499424\|RCV001246492;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836239	89836239	16:g.89836239G>C	-
NM_000135.4(FANCA):c.2504+5G>T	2175	FANCA	Uncertain significance	2039260372	RCV001255876;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836240	89836240	16:g.89836240C>A	-
NM_000135.4(FANCA):c.2504+3G>A	2175	FANCA	Uncertain significance	2039260426	RCV001255875;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836242	89836242	16:g.89836242C>T	-
NM_000135.4(FANCA):c.2504+2T>C	2175	FANCA	Pathogenic	2039260502	RCV001256274;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836243	89836243	16:g.89836243A>G	-
NM_000135.4(FANCA):c.2504+1G>A	2175	FANCA	Uncertain significance	2039260545	RCV001256273;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836244	89836244	16:g.89836244C>T	-
NM_000135.4(FANCA):c.2502G>A (p.Leu834=)	2175	FANCA	Likely benign	770993950	RCV000550322\|RCV003316675;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836247	89836247	16:g.89836247C>T	ClinGen:CA8251711	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2499C>A (p.Cys833Ter)	2175	FANCA	Pathogenic/Likely pathogenic	2039260856	RCV001263791;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836250	89836250	16:g.89836250G>T	-
NM_000135.4(FANCA):c.2492TCT[1] (p.Phe832del)	2175	FANCA	Uncertain significance	1310756192	RCV000671281\|RCV001217109;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836252	89836254	16:g.89836252_89836254del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2496C>T (p.Phe832=)	2175	FANCA	Likely benign	2039260982	RCV002205479\|RCV002507916;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836253	89836253	89836253	-
NM_000135.4(FANCA):c.2489T>A (p.Leu830Ter)	2175	FANCA	Likely pathogenic	772477788	RCV001263792;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836260	89836260	16:g.89836260A>T	-
NM_000135.4(FANCA):c.2481G>A (p.Arg827=)	2175	FANCA	Likely benign	749895479	RCV001431336\|RCV002501527;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836268	89836268	89836268	-
NM_000135.4(FANCA):c.2474G>A (p.Arg825Lys)	2175	FANCA	Uncertain significance	751222471	RCV001248605\|RCV002504368;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836275	89836275	16:g.89836275C>T	-
NM_000135.4(FANCA):c.2472T>A (p.Cys824Ter)	2175	FANCA	Likely pathogenic	2039261844	RCV001263793;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836277	89836277	16:g.89836277A>T	-
NM_000135.4(FANCA):c.2459G>A (p.Ser820Asn)	2175	FANCA	Uncertain significance	1339411422	RCV002016262\|RCV002486674;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836290	89836290	89836290	-
NM_000135.4(FANCA):c.2450T>C (p.Leu817Pro)	2175	FANCA	Pathogenic	1307805145	RCV001256272;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836299	89836299	16:g.89836299A>G	-
NM_000135.4(FANCA):c.2444C>G (p.Pro815Arg)	2175	FANCA	Uncertain significance	778009295	RCV001563754;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836305	89836305	89836305	-
NM_000135.4(FANCA):c.2432G>A (p.Gly811Asp)	2175	FANCA	Conflicting interpretations of pathogenicity	201152989	RCV000458018\|RCV001274572;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836317	89836317	NC_000016.9:g.89836317C>T	ClinGen:CA8251729	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp)	2175	FANCA	Benign/Likely benign	7195066	RCV000120927\|RCV000292806\|RCV001094251\|RCV001705887\|RCV002444577;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	89836323	89836323	16:g.89836323C>T	ClinGen:CA159275,UniProtKB:O15360#VAR_009646	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2426delinsACTGA (p.Gly809delinsAspTer)	2175	FANCA	Likely pathogenic	-1	RCV003468111;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836323	89836323		-
NM_000135.4(FANCA):c.2420C>T (p.Ala807Val)	2175	FANCA	Uncertain significance	144570744	RCV001820342\|RCV001869714\|RCV002482363;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836329	89836329	89836329	-
NM_000135.4(FANCA):c.2407G>A (p.Val803Met)	2175	FANCA	Uncertain significance	769083458	RCV001065580\|RCV001274573;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836342	89836342	16:g.89836342C>T	-
NM_000135.4(FANCA):c.2399A>G (p.Glu800Gly)	2175	FANCA	Uncertain significance	2039264657	RCV001277942\|RCV001880240;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836350	89836350	16:g.89836350T>C	-
NM_000135.4(FANCA):c.2398G>T (p.Glu800Ter)	2175	FANCA	Pathogenic	1555547474	RCV000499975\|RCV001380594;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836351	89836351	NC_000016.9:g.89836351C>A	ClinGen:CA397443878	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2395C>T (p.Pro799Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	762439008	RCV000350181\|RCV000765328;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836354	89836354	NC_000016.9:g.89836354G>A	ClinGen:CA8251735	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2394C>T (p.Leu798=)	2175	FANCA	Likely benign	765883419	RCV001277943\|RCV001431916\|RCV003405481;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89836355	89836355	16:g.89836355G>A	-
NM_000135.4(FANCA):c.2390C>T (p.Ala797Val)	2175	FANCA	Conflicting interpretations of pathogenicity	138248569	RCV000630849\|RCV001271599\|RCV001821773\|RCV002461940;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	16	89836359	89836359	NC_000016.9:g.89836359G>A	ClinGen:CA8251738	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2364C>T (p.Ala788=)	2175	FANCA	Benign/Likely benign	149754397	RCV000473020\|RCV003316604;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836385	89836385	NC_000016.9:g.89836385G>A	ClinGen:CA8251744	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2362G>C (p.Ala788Pro)	2175	FANCA	Pathogenic	1036897594	RCV001256271;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836387	89836387	16:g.89836387C>G	-
NM_000135.4(FANCA):c.2351dup (p.Leu784fs)	2175	FANCA	Pathogenic	2039266434	RCV001256270;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836397	89836398	16:g.89836397_89836398insA	-
NM_000135.4(FANCA):c.2348G>T (p.Gly783Val)	2175	FANCA	Pathogenic	935069258	RCV001256269;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836401	89836401	16:g.89836401C>A	-
NM_000135.4(FANCA):c.2327dup (p.Ser777fs)	2175	FANCA	Pathogenic	2039267300	RCV001256268;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836421	89836422	16:g.89836421_89836422insA	-
NM_000135.4(FANCA):c.2324G>C (p.Ser775Thr)	2175	FANCA	Uncertain significance	2039267533	RCV001293879;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836425	89836425	89836425	-
NM_000135.4(FANCA):c.2322G>A (p.Pro774=)	2175	FANCA	Likely benign	931091451	RCV000875584\|RCV002495316;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836427	89836427	16:g.89836427C>T	-
NC_000016.10:g.(89770025_89770165)_(89779958_89782858)del	2175	FANCA	Uncertain significance	-1	RCV001256249;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836433	89849266	-1	-
NC_000016.10:g.(89770025_89770165)_(89792069_89792470)del	2175	FANCA	Uncertain significance	-1	RCV001256237;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836433	89858878	-1	-
NM_000135.4(FANCA):c.2317-2A>G	2175	FANCA	Pathogenic	1567618264	RCV000760152;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836434	89836434	NC_000016.9:g.89836434T>C	-
NM_000135.4(FANCA):c.2317-8C>T	2175	FANCA	Likely benign	753766357	RCV000560100\|RCV001821476\|RCV002497050;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836440	89836440	NC_000016.9:g.89836440G>A	ClinGen:CA8251760	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2316+67A>G	2175	FANCA	Benign	7200990	RCV001537683\|RCV001615257;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89836507	89836507	89836507	-
NM_000135.4(FANCA):c.2316+9C>T	2175	FANCA	Conflicting interpretations of pathogenicity	776301232	RCV000388326\|RCV001458727\|RCV003151027;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374	16	89836565	89836565	NC_000016.9:g.89836565G>A	ClinGen:CA10644645	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2316+1_2316+3del	2175	FANCA	Likely pathogenic	2039275264	RCV001256265\|RCV001879788;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836571	89836573	16:g.89836571_89836573del	-
NM_000135.4(FANCA):c.2316+1G>T	2175	FANCA	Pathogenic	2039275333	RCV001256266;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836573	89836573	16:g.89836573C>A	-
NM_000135.4(FANCA):c.2314C>T (p.Gln772Ter)	2175	FANCA	Pathogenic	761725308	RCV000813088\|RCV001256264;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836576	89836576	16:g.89836576G>A	-
NM_000135.4(FANCA):c.2309G>A (p.Arg770His)	2175	FANCA	Conflicting interpretations of pathogenicity	145552439	RCV001338065\|RCV001820035\|RCV002499667;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836581	89836581	89836581	-
NM_000135.4(FANCA):c.2305C>T (p.Leu769Phe)	2175	FANCA	Uncertain significance	917707717	RCV000801853\|RCV002495077;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836585	89836585	16:g.89836585G>A	-
NM_000135.4(FANCA):c.2303T>C (p.Leu768Pro)	2175	FANCA	Conflicting interpretations of pathogenicity	1490352414	RCV000672136\|RCV001797781;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836587	89836587	16:g.89836587A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2292G>A (p.Arg764=)	2175	FANCA	Benign/Likely benign	56267906	RCV000458274\|RCV002475906\|RCV002481493;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836598	89836598	NC_000016.9:g.89836598C>T	ClinGen:CA8251800	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2291G>A (p.Arg764Gln)	2175	FANCA	Uncertain significance	377442601	RCV001067214\|RCV001271600;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836599	89836599	16:g.89836599C>T	-
NM_000135.4(FANCA):c.2290C>T (p.Arg764Trp)	2175	FANCA	Pathogenic	751572448	RCV001256263\|RCV001879787;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836600	89836600	16:g.89836600G>A	-
NM_000135.4(FANCA):c.2286C>T (p.Leu762=)	2175	FANCA	Likely benign	1419118181	RCV001500930\|RCV002506580;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836604	89836604	89836604	-
NM_000135.4(FANCA):c.2284C>A (p.Leu762Ile)	2175	FANCA	Uncertain significance	-1	RCV003338083;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836606	89836606		-
NM_000135.4(FANCA):c.2282T>A (p.Val761Glu)	2175	FANCA	Pathogenic	2039276663	RCV001256262;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836608	89836608	16:g.89836608A>T	-
NM_000135.4(FANCA):c.2276C>T (p.Pro759Leu)	2175	FANCA	Uncertain significance	373147908	RCV001245387\|RCV002484366;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836614	89836614	16:g.89836614G>A	-
NM_000135.4(FANCA):c.2267G>C (p.Arg756Pro)	2175	FANCA	Conflicting interpretations of pathogenicity	137913973	RCV000630862\|RCV001292817;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836623	89836623	16:g.89836623C>G	ClinGen:CA8251806	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2266C>T (p.Arg756Cys)	2175	FANCA	Uncertain significance	556748657	RCV001948275\|RCV002266062\|RCV002507601;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836624	89836624	89836624	-
NM_000135.4(FANCA):c.2257A>G (p.Met753Val)	2175	FANCA	Uncertain significance	757797015	RCV001981773\|RCV002484737;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836633	89836633	89836633	-
NM_000135.4(FANCA):c.2247C>T (p.Phe749=)	2175	FANCA	Likely benign	772842754	RCV001451558\|RCV002495639;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836643	89836643	89836643	-
NM_000135.4(FANCA):c.2247del (p.Phe749fs)	2175	FANCA	Likely pathogenic	-1	RCV003460163;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836643	89836643		-
NM_000135.4(FANCA):c.2236G>T (p.Ala746Ser)	2175	FANCA	Benign/Likely benign	575108446	RCV000296465\|RCV001094355;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836654	89836654	NC_000016.9:g.89836654C>A	ClinGen:CA8251819	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2233dup (p.Trp745fs)	2175	FANCA	Pathogenic	2039278551	RCV001256593\|RCV001879800;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836656	89836657	16:g.89836656_89836657insA	-
NM_000135.4(FANCA):c.2234G>A (p.Trp745Ter)	2175	FANCA	Likely pathogenic	1338018512	RCV001263794;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836656	89836656	16:g.89836656C>T	-
NM_000135.4(FANCA):c.2228G>A (p.Gly743Asp)	2175	FANCA	Uncertain significance	763187355	RCV000229622\|RCV001276547;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836662	89836662	16:g.89836662C>T	ClinGen:CA8251820	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2224C>A (p.Gln742Lys)	2175	FANCA	Pathogenic	1239354393	RCV001256592;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836666	89836666	16:g.89836666G>T	-
NM_000135.4(FANCA):c.2223-3C>G	2175	FANCA	Pathogenic	2039278966	RCV001256591;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836670	89836670	16:g.89836670G>C	-
NM_000135.4(FANCA):c.2223-8C>G	2175	FANCA	Likely benign	1598110961	RCV001277944\|RCV002069417;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836675	89836675	16:g.89836675G>C	-
NM_000135.4(FANCA):c.2223-114C>T	2175	FANCA	Benign	886952	RCV001537684\|RCV001712984\|RCV001832733;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836781	89836781	89836781	-
NM_000135.4(FANCA):c.2222+107T>C	2175	FANCA	Benign	886951	RCV001537685\|RCV001615258;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89836865	89836865	89836865	-
NM_000135.4(FANCA):c.2222+100A>G	2175	FANCA	Benign	886950	RCV001537686\|RCV001619948;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89836872	89836872	89836872	-
NM_000135.4(FANCA):c.2222+8C>T	2175	FANCA	Uncertain significance	745775730	RCV001256590\|RCV001879799;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836964	89836964	16:g.89836964G>A	-
NM_000135.4(FANCA):c.2222+7G>A	2175	FANCA	Conflicting interpretations of pathogenicity	374312736	RCV000502652\|RCV000864671\|RCV001276548;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836965	89836965	NC_000016.9:g.89836965C>T	ClinGen:CA8251840	CN169374 not specified;
NM_000135.4(FANCA):c.2222+1G>C	2175	FANCA	Likely pathogenic	775388912	RCV000670106;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836971	89836971	16:g.89836971C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2222+1G>T	2175	FANCA	Pathogenic/Likely pathogenic	775388912	RCV002019041\|RCV003464346;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836971	89836971	89836971	-
NM_000135.4(FANCA):c.2218G>A (p.Glu740Lys)	2175	FANCA	Uncertain significance	536086288	RCV001118623\|RCV001856558;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836976	89836976	16:g.89836976C>T	-
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu)	2175	FANCA	Benign/Likely benign	45441106	RCV000120926\|RCV000227911\|RCV000674807\|RCV001800408;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89836978	89836978	16:g.89836978G>A	ClinGen:CA159272,UniProtKB:O15360#VAR_009645	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2212C>T (p.Pro738Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	751015814	RCV001913935\|RCV002484544;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836982	89836982	89836982	-
NM_000135.4(FANCA):c.2210C>T (p.Ala737Val)	2175	FANCA	Uncertain significance	199938598	RCV000535221\|RCV002483352;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89836984	89836984	16:g.89836984G>A	ClinGen:CA8251848	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2203A>G (p.Ser735Gly)	2175	FANCA	Uncertain significance	886052485	RCV000344436\|RCV002257641;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89836991	89836991	NC_000016.9:g.89836991T>C	ClinGen:CA10649316	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2189T>C (p.Leu730Pro)	2175	FANCA	Pathogenic	2039289431	RCV001256589;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837005	89837005	16:g.89837005A>G	-
NM_000135.4(FANCA):c.2186A>G (p.Asn729Ser)	2175	FANCA	Uncertain significance	1440861257	RCV001345716\|RCV002493777;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837008	89837008	89837008	-
NM_000135.4(FANCA):c.2175_2182del (p.Phe726fs)	2175	FANCA	Pathogenic/Likely pathogenic	1555547935	RCV000666675\|RCV001210504;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89837012	89837019	16:g.89837012_89837019del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2180G>A (p.Cys727Tyr)	2175	FANCA	Uncertain significance	1425954290	RCV001897979\|RCV002490133;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837014	89837014	89837014	-
NM_000135.4(FANCA):c.2178C>G (p.Phe726Leu)	2175	FANCA	Uncertain significance	1163885123	RCV001201709\|RCV002484076;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837016	89837016	16:g.89837016G>C	-
NM_000135.4(FANCA):c.2172dup (p.Ser725fs)	2175	FANCA	Pathogenic	1555547955	RCV000670729\|RCV001855546;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89837021	89837022	16:g.89837021_89837022insC	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2171C>T (p.Thr724Met)	2175	FANCA	Conflicting interpretations of pathogenicity	777032467	RCV001965614\|RCV003154227\|RCV002507709;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837023	89837023	89837023	-
NM_000135.4(FANCA):c.2170A>C (p.Thr724Pro)	2175	FANCA	Pathogenic	2039290343	RCV001256588;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837024	89837024	16:g.89837024T>G	-
NM_000135.4(FANCA):c.2164CTG[1] (p.Leu723del)	2175	FANCA	Pathogenic/Likely pathogenic	1567618907	RCV000761271;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837025	89837027	NC_000016.9:g.89837025CAG[1]	-
NC_000016.10:g.(89770635_89771677)_(89771815_89773270)del	2175	FANCA	Uncertain significance	-1	RCV001256484;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837043	89839678	-1	-
NC_000016.10:g.(89770635_89771677)_(89779958_89782858)del	2175	FANCA	Pathogenic	-1	RCV001256248;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837043	89849266	-1	-
NC_000016.10:g.(89770635_89771677)_(89783103_89784853)del	2175	FANCA	Pathogenic	-1	RCV001256479;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837043	89851261	-1	-
NC_000016.10:g.(89770635_89771677)_(89784965_89791402)del	2175	FANCA	Pathogenic	-1	RCV001256361;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837043	89857810	-1	-
NC_000016.10:g.(89770635_89771677)_(89792548_89795905)del	2175	FANCA	Pathogenic	-1	RCV001256566;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837043	89862313	-1	-
NM_000135.4(FANCA):c.2152-10G>C	2175	FANCA	Benign	557705265	RCV000862242\|RCV001276550;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837052	89837052	16:g.89837052C>G	-
NM_000135.4(FANCA):c.2152-13T>C	2175	FANCA	Conflicting interpretations of pathogenicity	752105563	RCV001118624\|RCV002069921;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89837055	89837055	16:g.89837055A>G	-
NM_000135.4(FANCA):c.2152-20T>A	2175	FANCA	Benign/Likely benign	200403206	RCV002127376\|RCV002480960;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837062	89837062	89837062	-
Single allele	2175	FANCA	Likely pathogenic	-1	RCV000454303;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89837128	89848956	NC_000007.13:g.30999250_31006943delinsAGAGATCCA	-	C1968689 243700 Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive;
NM_000135.4(FANCA):c.2151+20A>G	2175	FANCA	Likely benign	374555419	RCV002216174\|RCV002494107;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838066	89838066	89838066	-
NM_000135.4(FANCA):c.2151+8T>C	2175	FANCA	Benign	1800340	RCV000244957\|RCV000398159\|RCV001094356;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838078	89838078	16:g.89838078A>G	ClinGen:CA8251888	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2151+7G>A	2175	FANCA	Likely benign	2039330078	RCV001455479\|RCV002501596;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838079	89838079	89838079	-
NM_000135.4(FANCA):c.2151+2_2151+3insG	2175	FANCA	Pathogenic	2039330307	RCV001256583;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838083	89838084	16:g.89838083_89838084insC	-
NM_000135.4(FANCA):c.2151+2T>C	2175	FANCA	Likely pathogenic	937874201	RCV000670390\|RCV001861792;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89838084	89838084	16:g.89838084A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2151+1dup	2175	FANCA	Likely pathogenic	777971510	RCV001241531\|RCV002491805;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838084	89838085	16:g.89838084_89838085insC	-
NM_000135.4(FANCA):c.2151+1G>A	2175	FANCA	Pathogenic	1555548428	RCV000501439;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838085	89838085	16:g.89838085C>T	ClinGen:CA397447830	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.2(FANCA):c.1_2151+1del	2175	FANCA	Likely pathogenic	-1	RCV000761237;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838085	89883023		-
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile)	2175	FANCA	Benign/Likely benign	1131660	RCV000120925\|RCV000312324\|RCV001094357\|RCV001567400;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89838086	89838086	16:g.89838086C>A	ClinGen:CA159269,UniProtKB:O15360#VAR_061649	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2150dup (p.Met717fs)	2175	FANCA	Pathogenic	-1	RCV003152929;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838086	89838087		-
NM_000135.4(FANCA):c.2147A>G (p.His716Arg)	2175	FANCA	Uncertain significance	751474452	RCV001246216\|RCV002491829;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838090	89838090	16:g.89838090T>C	-
NM_000135.4(FANCA):c.2143G>T (p.Glu715Ter)	2175	FANCA	Pathogenic	781436006	RCV001783242\|RCV002034561;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89838094	89838094	89838094	-
NM_000135.4(FANCA):c.2127G>A (p.Pro709=)	2175	FANCA	Likely benign	771226546	RCV001459495\|RCV003151324\|RCV002495661;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838110	89838110	89838110	-
NM_000135.4(FANCA):c.2126C>T (p.Pro709Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	148203537	RCV001983248\|RCV002492141\|RCV002305638;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89838111	89838111	89838111	-
NM_000135.4(FANCA):c.2125C>G (p.Pro709Ala)	2175	FANCA	Conflicting interpretations of pathogenicity	746373917	RCV001369132\|RCV002499756\|RCV003405615;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89838112	89838112	89838112	-
NM_000135.4(FANCA):c.2123C>T (p.Thr708Met)	2175	FANCA	Uncertain significance	775960094	RCV001563816\|RCV001882662;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89838114	89838114	89838114	-
NM_000135.4(FANCA):c.2121del (p.Asn707fs)	2175	FANCA	Pathogenic	2039331837	RCV001256491;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838116	89838116	16:g.89838116_89838116del	-
NM_000135.4(FANCA):c.2119A>G (p.Asn707Asp)	2175	FANCA	Uncertain significance	-1	RCV002282797\|RCV003289496;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89838118	89838118	89838118	-
NM_000135.4(FANCA):c.2109G>C (p.Gln703His)	2175	FANCA	Conflicting interpretations of pathogenicity	371458363	RCV001309099\|RCV002476427;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838128	89838128	89838128	-
NM_000135.4(FANCA):c.2107C>T (p.Gln703Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1555548512	RCV000667754\|RCV000822096;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89838130	89838130	NC_000016.9:g.89838130G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu)	2175	FANCA	Conflicting interpretations of pathogenicity	56369086	RCV000120924\|RCV000233082\|RCV001333235\|RCV002225374;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89838136	89838136	16:g.89838136T>C	ClinGen:CA159266	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2094G>C (p.Glu698Asp)	2175	FANCA	Uncertain significance	201672093	RCV000546220\|RCV003128623\|RCV002476089\|RCV002525284;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89838143	89838143	16:g.89838143C>G	ClinGen:CA8251912	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2082_2088dup (p.Val697fs)	2175	FANCA	Likely pathogenic	754104046	RCV000672239;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838148	89838149	16:g.89838148_89838149insGCTGCTG	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2089G>A (p.Val697Ile)	2175	FANCA	Uncertain significance	376888740	RCV000792843\|RCV002487646\|RCV003233850;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89838148	89838148	16:g.89838148C>T	-
NM_000135.4(FANCA):c.2089G>C (p.Val697Leu)	2175	FANCA	Uncertain significance	376888740	RCV002000691\|RCV002497948;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838148	89838148	89838148	-
NM_000135.4(FANCA):c.2087G>T (p.Ser696Ile)	2175	FANCA	Uncertain significance	-1	RCV002637742\|RCV003140133;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838150	89838150	NC_000016.9:g.89838150C>A	-
NM_000135.4(FANCA):c.2080G>A (p.Asp694Asn)	2175	FANCA	Conflicting interpretations of pathogenicity	201589909	RCV000801692\|RCV001271603\|RCV003153842\|RCV003334022;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MedGen:C3661900	16	89838157	89838157	16:g.89838157C>T	-
NM_000135.4(FANCA):c.2072A>G (p.Asn691Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	367880372	RCV000120923\|RCV000707539\|RCV001271604;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838165	89838165	16:g.89838165T>C	ClinGen:CA159263	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2072A>T (p.Asn691Ile)	2175	FANCA	Uncertain significance	-1	RCV002292251;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838165	89838165	89838165	-
NM_000135.4(FANCA):c.2066del (p.Gly689fs)	2175	FANCA	Pathogenic	2039334639	RCV001256490;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838171	89838171	16:g.89838171_89838171del	-
NM_000135.4(FANCA):c.2054G>C (p.Arg685Thr)	2175	FANCA	Pathogenic	1183781456	RCV001256488;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838183	89838183	16:g.89838183C>G	-
NM_000135.4(FANCA):c.2051T>C (p.Leu684Pro)	2175	FANCA	Likely pathogenic	762526878	RCV000672786;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838186	89838186	16:g.89838186A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2029G>A (p.Val677Met)	2175	FANCA	Conflicting interpretations of pathogenicity	767396631	RCV000630911\|RCV001271605\|RCV001756040;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89838208	89838208	NC_000016.9:g.89838208C>T	ClinGen:CA8251928	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2026C>T (p.Gln676Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1448463647	RCV000674289\|RCV001055356;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89838211	89838211	16:g.89838211G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2024C>T (p.Ala675Val)	2175	FANCA	Uncertain significance	986889143	RCV001788942\|RCV002544307;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89838213	89838213	89838213	-
NM_000135.4(FANCA):c.2022G>A (p.Ser674=)	2175	FANCA	Likely benign	371997754	RCV001485581\|RCV002506559;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838215	89838215	89838215	-
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu)	2175	FANCA	Benign/Likely benign	17232973	RCV000230217\|RCV000499617\|RCV002503887;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838216	89838216	NC_000016.9:g.89838216G>A	ClinGen:CA8251931	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2021C>A (p.Ser674Ter)	2175	FANCA	Likely pathogenic	17232973	RCV001256487;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838216	89838216	16:g.89838216G>T	-
NM_000135.4(FANCA):c.2015-1G>A	2175	FANCA	Likely pathogenic	1555548632	RCV000672065;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838223	89838223	16:g.89838223C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2015-1G>T	2175	FANCA	Likely pathogenic	1555548632	RCV001256483\|RCV001879792;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89838223	89838223	16:g.89838223C>A	-
NC_000016.10:g.(89771815_89773270)_(89775816_89778800)del	2175	FANCA	Pathogenic	-1	RCV001256372;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838223	89845208	-1	-
NC_000016.10:g.(89771815_89773270)_(89778851_89778942)del	2175	FANCA	Uncertain significance	-1	RCV001256367;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838223	89845350	-1	-
NC_000016.10:g.(89771815_89773270)_(89783103_89784853)del	2175	FANCA	Pathogenic	-1	RCV001256478;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838223	89851261	-1	-
NC_000016.10:g.(89771815_89773270)_(89816657_?)del	2175	FANCA	Uncertain significance	-1	RCV001256427;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838223	89883065	-1	-
NM_000135.4(FANCA):c.2015-4G>T	2175	FANCA	Conflicting interpretations of pathogenicity	373954227	RCV000862721\|RCV001118625;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838226	89838226	16:g.89838226C>A	-
NM_000135.4(FANCA):c.2015-4G>A	2175	FANCA	Likely benign	373954227	RCV001506191\|RCV002501734;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838226	89838226	89838226	-
NM_000135.4(FANCA):c.2015-5C>T	2175	FANCA	Conflicting interpretations of pathogenicity	780349960	RCV000252915\|RCV000867005\|RCV003316331;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838227	89838227	16:g.89838227G>A	ClinGen:CA8251937	CN169374 not specified;
NM_000135.4(FANCA):c.1626+967_2015-679del	2175	FANCA	Pathogenic	-1	RCV003444457;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89838901	89848300		-
NM_000135.4(FANCA):c.2014+1G>C	2175	FANCA	Likely pathogenic	1598116164	RCV000853504\|RCV001241985\|RCV003148887;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	16	89839678	89839678	16:g.89839678C>G	-
NM_000135.4(FANCA):c.2013T>C (p.Asp671=)	2175	FANCA	Uncertain significance	1225307143	RCV002208734;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839680	89839680	89839680	-
NM_000135.4(FANCA):c.2009G>A (p.Arg670His)	2175	FANCA	Conflicting interpretations of pathogenicity	537923341	RCV001239057\|RCV001330799;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839684	89839684	16:g.89839684C>T	-
NM_000135.4(FANCA):c.2008C>T (p.Arg670Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	587778312	RCV000120922\|RCV000667865\|RCV001243928;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89839685	89839685	16:g.89839685G>A	ClinGen:CA159260	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2005C>T (p.Gln669Ter)	2175	FANCA	Pathogenic	2039386741	RCV001256482\|RCV002570435;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89839688	89839688	16:g.89839688G>A	-
NM_000135.4(FANCA):c.2001dup (p.Ser668fs)	2175	FANCA	Pathogenic/Likely pathogenic	2143366568	RCV001928441\|RCV002490280;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839691	89839692	89839691	-
NM_000135.4(FANCA):c.1994C>G (p.Thr665Arg)	2175	FANCA	Uncertain significance	1481598103	RCV001292894\|RCV002541817;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89839699	89839699	89839699	-
NM_000135.4(FANCA):c.1990A>G (p.Met664Val)	2175	FANCA	Conflicting interpretations of pathogenicity	748579719	RCV000348439\|RCV001094415;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839703	89839703	NC_000016.9:g.89839703T>C	ClinGen:CA8251962	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1979T>C (p.Leu660Pro)	2175	FANCA	Pathogenic	1567621042	RCV000761289;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839714	89839714	NC_000016.9:g.89839714A>G	-
NM_000135.4(FANCA):c.1972G>T (p.Gly658Ter)	2175	FANCA	Likely pathogenic	-1	RCV002309428;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839721	89839721	89839721	-
NM_000135.4(FANCA):c.1964C>G (p.Ala655Gly)	2175	FANCA	Conflicting interpretations of pathogenicity	1306842168	RCV001243575\|RCV002480819;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839729	89839729	16:g.89839729G>C	-
NM_000135.4(FANCA):c.1960A>G (p.Thr654Ala)	2175	FANCA	Uncertain significance	1555549412	RCV000630880\|RCV001271607;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839733	89839733	NC_000016.9:g.89839733T>C	ClinGen:CA397449951	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1960A>T (p.Thr654Ser)	2175	FANCA	Uncertain significance	-1	RCV003147169;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839733	89839733	NC_000016.9:g.89839733T>A	-
NM_000135.4(FANCA):c.1951G>T (p.Gly651Ter)	2175	FANCA	Likely pathogenic	140785340	RCV001263795;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839742	89839742	16:g.89839742C>A	-
NM_000135.4(FANCA):c.1951G>A (p.Gly651Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	140785340	RCV001300117\|RCV001819989\|RCV002476391;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839742	89839742	89839742	-
NM_000135.4(FANCA):c.1944del (p.Glu648fs)	2175	FANCA	Pathogenic/Likely pathogenic	1555549451	RCV000671285\|RCV001383586;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89839749	89839749	16:g.89839749_89839749del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1941G>A (p.Glu647=)	2175	FANCA	Benign	17232917	RCV000248340\|RCV000398209\|RCV001094416\|RCV001636743;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89839752	89839752	16:g.89839752C>T	ClinGen:CA8251969	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1934C>T (p.Ser645Phe)	2175	FANCA	Uncertain significance	776682683	RCV000630895\|RCV002492947;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839759	89839759	NC_000016.9:g.89839759G>A	ClinGen:CA8251970	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1928C>G (p.Pro643Arg)	2175	FANCA	Benign	34592408	RCV000120921\|RCV000299264\|RCV001094417;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839765	89839765	16:g.89839765G>C	ClinGen:CA159257	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1927C>G (p.Pro643Ala)	2175	FANCA	Benign	17232910	RCV000120920\|RCV000354160\|RCV001094418\|RCV001705886;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89839766	89839766	16:g.89839766G>C	ClinGen:CA159254,UniProtKB:O15360#VAR_050987	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1912G>T (p.Gly638Ter)	2175	FANCA	Likely pathogenic	2143367693	RCV002271829\|RCV002307853;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839781	89839781	89839781	-
NM_000135.4(FANCA):c.1904C>T (p.Ala635Val)	2175	FANCA	Conflicting interpretations of pathogenicity	142217479	RCV000630927\|RCV001120168\|RCV001771851;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89839789	89839789	NC_000016.9:g.89839789G>A	ClinGen:CA8251971	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1901-1G>A	2175	FANCA	Likely pathogenic	1485075318	RCV000669366\|RCV003237984;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89839793	89839793	16:g.89839793C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.(89773385_89775741)_(89775816_89778800)del	2175	FANCA	Pathogenic	-1	RCV001256371;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839793	89845208	-1	-
NC_000016.10:g.(89773385_89775741)_(89779958_89782858)del	2175	FANCA	Pathogenic	-1	RCV001256247;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839793	89849266	-1	-
NC_000016.10:g.(89773385_89775741)_(89784965_89791402)dup	2175	FANCA	Pathogenic	-1	RCV001256360;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839793	89857810	-1	-
NC_000016.10:g.(89773385_89775741)_(89796019_89799165)del	2175	FANCA	Pathogenic	-1	RCV001256464;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839793	89865573	-1	-
NC_000016.10:g.(89773385_89775741)_(89799639_89803258)del	2175	FANCA	Uncertain significance	-1	RCV001256344;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839793	89869666	-1	-
NC_000016.10:g.(89773385_89775741)_(89808368_89810706)del	2175	FANCA	Pathogenic	-1	RCV001256451;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839793	89877114	-1	-
NC_000016.10:g.(89773385_89775741)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256426;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839793	89883065	-1	-
NM_000135.4(FANCA):c.1901-2A>G	2175	FANCA	Likely pathogenic	1555549535	RCV000669408\|RCV001868230;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89839794	89839794	16:g.89839794T>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1901-3C>A	2175	FANCA	Conflicting interpretations of pathogenicity	17226526	RCV000259319\|RCV001094419;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839795	89839795	NC_000016.9:g.89839795G>T	ClinGen:CA8251972	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1901-9T>G	2175	FANCA	Conflicting interpretations of pathogenicity	886052486	RCV000305138\|RCV002522899;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89839801	89839801	NC_000016.9:g.89839801A>C	ClinGen:CA10644646	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1901-10C>T	2175	FANCA	Likely benign	766654290	RCV000869142\|RCV002501290;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89839802	89839802	16:g.89839802G>A	-
NM_000135.4(FANCA):c.1900+7T>A	2175	FANCA	Conflicting interpretations of pathogenicity	377401016	RCV000557762\|RCV001821475\|RCV002490944\|RCV003326450;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89842143	89842143	16:g.89842143A>T	ClinGen:CA8251983	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1900+1G>T	2175	FANCA	Likely pathogenic	1598120768	RCV000809003\|RCV003467430;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842149	89842149	16:g.89842149C>A	-
NM_000135.4(FANCA):c.1899A>C (p.Glu633Asp)	2175	FANCA	Uncertain significance	768520283	RCV000543652\|RCV002497049;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842151	89842151	16:g.89842151T>G	ClinGen:CA8251984	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1888G>T (p.Glu630Ter)	2175	FANCA	Likely pathogenic	-1	RCV002308219;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842162	89842162	89842162	-
NM_000135.4(FANCA):c.1882G>A (p.Ala628Thr)	2175	FANCA	Uncertain significance	766422868	RCV001267761\|RCV001879776;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89842168	89842168	16:g.89842168C>T	-
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	139235751	RCV000255908\|RCV000475267\|RCV000989672\|RCV001800637;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89842176	89842176	16:g.89842176C>G	ClinGen:CA8251994	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1874G>A (p.Cys625Tyr)	2175	FANCA	Uncertain significance	139235751	RCV000814430\|RCV002487783;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842176	89842176	16:g.89842176C>T	-
NM_000135.4(FANCA):c.1871C>G (p.Ala624Gly)	2175	FANCA	Conflicting interpretations of pathogenicity	146491000	RCV000555138\|RCV002293448\|RCV002476088;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842179	89842179	NC_000016.9:g.89842179G>C	ClinGen:CA8251997	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1850_1859del (p.Leu617fs)	2175	FANCA	Pathogenic/Likely pathogenic	2143393148	RCV001536024\|RCV002568228;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89842191	89842200	89842190	-
NM_000135.4(FANCA):c.1844dup (p.Ser616fs)	2175	FANCA	Likely pathogenic	779375100	RCV000671111;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842205	89842206	16:g.89842205_89842206insG	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1835A>G (p.Lys612Arg)	2175	FANCA	Uncertain significance	777736014	RCV000815164\|RCV001271611\|RCV002282378;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89842215	89842215	16:g.89842215T>C	-
NM_000135.4(FANCA):c.1830A>G (p.Ala610=)	2175	FANCA	Benign/Likely benign	1800338	RCV000253440\|RCV000761973\|RCV001083776\|RCV001120466;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842220	89842220	NC_000016.9:g.89842220T>C	ClinGen:CA8252009	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1827-1G>A	2175	FANCA	Pathogenic	555449842	RCV000471236\|RCV000667190;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842224	89842224	NC_000016.9:g.89842224C>T	ClinGen:CA8252011	C0015625 Fanconi anemia;
NC_000016.10:g.(89775816_89778800)_(89778851_89778942)del	2175	FANCA	Uncertain significance	-1	RCV001256261;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842224	89845350	-1	-
NC_000016.10:g.(89775816_89778800)_(89783103_89784853)del	2175	FANCA	Pathogenic	-1	RCV001256477;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842224	89851261	-1	-
NC_000016.10:g.(89775816_89778800)_(89784965_89791402)del	2175	FANCA	Pathogenic	-1	RCV001256359;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842224	89857810	-1	-
NC_000016.10:g.(89775816_89778800)_(89796019_89799165)del	2175	FANCA	Pathogenic	-1	RCV001256463;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842224	89865573	-1	-
NC_000016.10:g.(89775816_89778800)_(89805393_89808293)del	2175	FANCA	Pathogenic	-1	RCV001256551;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842224	89874701	-1	-
NC_000016.10:g.(89775816_89778800)_(89808368_89810706)del	2175	FANCA	Uncertain significance	-1	RCV001256450;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842224	89877114	-1	-
NC_000016.10:g.(89775816_89778800)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256325;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842224	89883065	-1	-
NM_000135.4(FANCA):c.1827-2A>G	2175	FANCA	Pathogenic/Likely pathogenic	2143393518	RCV002544206\|RCV003237526\|RCV003325232;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89842225	89842225	89842225	-
NC_000016.8:g.88372488_88396714del	2175	FANCA	Pathogenic	-1	RCV001256231;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89844985	89869211	-1	-
NM_000135.4(FANCA):c.1826+99T>A	2175	FANCA	Benign	7187436	RCV001537687\|RCV001658258;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89845110	89845110	89845110	-
NM_000135.4(FANCA):c.1826+15T>C	2175	FANCA	Benign	1800337	RCV000243909\|RCV000359688\|RCV001510315\|RCV001709523;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89845194	89845194	NC_000016.9:g.89845194A>G	ClinGen:CA8252051	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1826+12C>T	2175	FANCA	Benign/Likely benign	183513839	RCV000195264\|RCV001120467\|RCV001515918\|RCV003422094;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89845197	89845197	16:g.89845197G>A	ClinGen:CA209953	CN169374 not specified;
NM_000135.4(FANCA):c.1826+4T>A	2175	FANCA	Uncertain significance	979666807	RCV001120468\|RCV001223816;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89845205	89845205	16:g.89845205A>T	-
NM_000135.4(FANCA):c.1826+2T>C	2175	FANCA	Likely pathogenic	-1	RCV003460154;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845207	89845207		-
NM_000135.4(FANCA):c.1822A>T (p.Lys608Ter)	2175	FANCA	Likely pathogenic	938278864	RCV001263796;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845213	89845213	16:g.89845213T>A	-
NM_000135.4(FANCA):c.1814_1815del (p.Glu605fs)	2175	FANCA	Pathogenic	759899153	RCV000529668\|RCV001256369;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845220	89845221	16:g.89845220_89845221del	ClinGen:CA8252056	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1815G>A (p.Glu605=)	2175	FANCA	Likely benign	773613283	RCV000870367\|RCV001276554;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845220	89845220	16:g.89845220C>T	-
NM_000135.4(FANCA):c.1811_1812dup (p.Glu605Ter)	2175	FANCA	Likely pathogenic	-1	RCV003460144;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845222	89845223		-
NM_000135.4(FANCA):c.1809dup (p.Ile604fs)	2175	FANCA	Pathogenic/Likely pathogenic	1343140664	RCV000555905\|RCV002497048;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845225	89845226	16:g.89845225_89845226insA	ClinGen:CA624252385	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1808T>C (p.Phe603Ser)	2175	FANCA	Uncertain significance	766939940	RCV000810494\|RCV001816880\|RCV002495121;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845227	89845227	16:g.89845227A>G	-
NM_000135.4(FANCA):c.1806G>A (p.Ala602=)	2175	FANCA	Likely benign	550064744	RCV000869204\|RCV001276555;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845229	89845229	16:g.89845229C>T	-
NM_000135.4(FANCA):c.1805C>T (p.Ala602Val)	2175	FANCA	Uncertain significance	374968669	RCV001120469\|RCV001856580;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89845230	89845230	16:g.89845230G>A	-
NM_000135.4(FANCA):c.1796_1800dup (p.Val601fs)	2175	FANCA	Pathogenic/Likely pathogenic	1555552006	RCV000671503\|RCV001245500;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89845234	89845235	16:g.89845234_89845235insACGGG	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1799G>C (p.Arg600Pro)	2175	FANCA	Uncertain significance	775917892	RCV001322694\|RCV002486287;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845236	89845236	89845236	-
NM_000135.4(FANCA):c.1799G>A (p.Arg600His)	2175	FANCA	Uncertain significance	775917892	RCV002257095\|RCV002488640;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845236	89845236	89845236	-
NM_000135.4(FANCA):c.1798C>T (p.Arg600Cys)	2175	FANCA	Uncertain significance	765036744	RCV001327003\|RCV002486317;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845237	89845237	89845237	-
NM_000135.4(FANCA):c.1796C>T (p.Ser599Phe)	2175	FANCA	Conflicting interpretations of pathogenicity	562319781	RCV001051230\|RCV002497402;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845239	89845239	16:g.89845239G>A	-
NM_000135.4(FANCA):c.1794C>G (p.Asp598Glu)	2175	FANCA	Uncertain significance	2143422796	RCV001952817\|RCV002507630;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845241	89845241	89845241	-
NM_000135.4(FANCA):c.1792G>A (p.Asp598Asn)	2175	FANCA	Pathogenic	2039605345	RCV001256368;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845243	89845243	16:g.89845243C>T	-
NM_000135.4(FANCA):c.1777-3_1783del	2175	FANCA	Likely pathogenic	2039605605	RCV001256260\|RCV002570431;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89845252	89845261	16:g.89845252_89845261del	-
NM_000135.4(FANCA):c.1781C>A (p.Pro594His)	2175	FANCA	Uncertain significance	780295697	RCV001244955\|RCV002484359;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845254	89845254	16:g.89845254G>T	-
NM_000135.4(FANCA):c.1777-1G>C	2175	FANCA	Likely pathogenic	755104393	RCV000665345\|RCV001054905;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89845259	89845259	16:g.89845259C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.(89778851_89778942)_(89779004_89779868)del	2175	FANCA	Uncertain significance	-1	RCV001256258;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845259	89846276	-1	-
NM_000135.4(FANCA):c.1777-15C>G	2175	FANCA	Conflicting interpretations of pathogenicity	371919426	RCV000265014\|RCV002522900;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89845273	89845273	NC_000016.9:g.89845273G>C	ClinGen:CA8252077	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1777-29T>C	2175	FANCA	Benign	2302162	RCV000252480\|RCV001594885\|RCV003316330;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845287	89845287	NC_000016.9:g.89845287A>G	ClinGen:CA8252089	CN169374 not specified;
NM_000135.4(FANCA):c.1776+13C>T	2175	FANCA	Likely benign	371272310	RCV002197755\|RCV002494103;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845338	89845338	89845338	-
NM_000135.4(FANCA):c.1776+11G>A	2175	FANCA	Likely benign	377308050	RCV002215097\|RCV002498249;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845340	89845340	89845340	-
NM_000135.4(FANCA):c.1776+10C>T	2175	FANCA	Likely benign	767506133	RCV000873456\|RCV001271613;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845341	89845341	16:g.89845341G>A	-
NM_000135.4(FANCA):c.1776+7A>G	2175	FANCA	Uncertain significance	1555552070	RCV000671565\|RCV001756137;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89845344	89845344	16:g.89845344T>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1776+1G>A	2175	FANCA	Pathogenic/Likely pathogenic	756140957	RCV000523348\|RCV000685268\|RCV003464113;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845350	89845350	NC_000016.9:g.89845350C>T	ClinGen:CA8252113
NM_000135.4(FANCA):c.1772G>A (p.Arg591Gln)	2175	FANCA	Conflicting interpretations of pathogenicity	778093769	RCV000476740\|RCV000765329\|RCV003418177;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89845355	89845355	NC_000016.9:g.89845355C>T	ClinGen:CA8252114	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1771C>T (p.Arg591Ter)	2175	FANCA	Pathogenic	753980264	RCV000674201\|RCV001069523\|RCV003222094;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89845356	89845356	NC_000016.9:g.89845356G>A	-
NM_000135.4(FANCA):c.1756G>A (p.Ala586Thr)	2175	FANCA	Conflicting interpretations of pathogenicity	201212806	RCV001053106\|RCV001120470;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845371	89845371	16:g.89845371C>T	-
NM_000135.4(FANCA):c.1755C>T (p.Pro585=)	2175	FANCA	Likely benign	144704750	RCV001416094\|RCV002507512;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845372	89845372	16:g.89845372G>A	-
NM_000135.4(FANCA):c.1755C>G (p.Pro585=)	2175	FANCA	Likely benign	144704750	RCV000869184\|RCV002507505;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845372	89845372	16:g.89845372G>C	-
NM_000135.4(FANCA):c.1753C>T (p.Pro585Ser)	2175	FANCA	Uncertain significance	2039611087	RCV001115559;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845374	89845374	16:g.89845374G>A	-
NM_000135.4(FANCA):c.1738_1742delinsCCGCCT (p.Val580fs)	2175	FANCA	Uncertain significance	2039611494	RCV001256259;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845385	89845389	16:g.89845385_89845386insGGCGG	-
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer)	2175	FANCA	Pathogenic/Likely pathogenic	757504102	RCV000669747\|RCV001861781\|RCV002253554;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	16	89845388	89845393	16:g.89845388_89845393del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1738G>A (p.Val580Met)	2175	FANCA	Uncertain significance	769158149	RCV001058709\|RCV001115560;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845389	89845389	16:g.89845389C>T	-
NM_000135.4(FANCA):c.1737C>T (p.Tyr579=)	2175	FANCA	Conflicting interpretations of pathogenicity	529199293	RCV000329509\|RCV001512541\|RCV001820957;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374	16	89845390	89845390	NC_000016.9:g.89845390G>A	ClinGen:CA8252124	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1734C>T (p.Tyr578=)	2175	FANCA	Likely benign	762647468	RCV000870464\|RCV001816998\|RCV002495295;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845393	89845393	16:g.89845393G>A	-
NC_000016.10:g.(89779004_89779868)_(89779958_89782858)del	2175	FANCA	Uncertain significance	-1	RCV001256582;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845412	89849266	-1	-
NC_000016.10:g.(89779004_89779868)_(89783103_89784853)del	2175	FANCA	Uncertain significance	-1	RCV001256476;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845412	89851261	-1	-
NC_000016.10:g.(89779004_89779868)_(89799639_89803258)del	2175	FANCA	Uncertain significance	-1	RCV001256343;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845412	89869666	-1	-
NM_000135.4(FANCA):c.1716-3C>T	2175	FANCA	Uncertain significance	760855591	RCV001058050\|RCV001274141;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845414	89845414	16:g.89845414G>A	-
NM_000135.4(FANCA):c.1716-20T>C	2175	FANCA	Likely benign	367726674	RCV002088759\|RCV002507951;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89845431	89845431	89845431	-
NM_000135.4(FANCA):c.1715+82T>C	2175	FANCA	Benign	1800335	RCV001537688\|RCV001655828;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89846195	89846195	89846195	-
NM_000135.4(FANCA):c.1715+3_1715+13del	2175	FANCA	Likely pathogenic	2143432038	RCV001726535;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846264	89846274	89846263	-
NM_000135.4(FANCA):c.1709_1715+4del	2175	FANCA	Pathogenic	2039641869	RCV001256255;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846273	89846283	16:g.89846273_89846283del	-
NM_000135.4(FANCA):c.1715+1G>T	2175	FANCA	Likely pathogenic	1555552506	RCV000673486;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846276	89846276	16:g.89846276C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1703del (p.Val568fs)	2175	FANCA	Pathogenic	2039642419	RCV001256254;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846289	89846289	16:g.89846289_89846289del	-
NM_000135.4(FANCA):c.1702G>A (p.Val568Ile)	2175	FANCA	Uncertain significance	778754162	RCV001047771\|RCV001274142;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846290	89846290	16:g.89846290C>T	-
NM_000135.4(FANCA):c.1701C>T (p.Thr567=)	2175	FANCA	Likely benign	745466726	RCV001506201\|RCV002506151;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846291	89846291	NC_000016.9:g.89846291G>A	ClinGen:CA8252162	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1690A>C (p.Ile564Leu)	2175	FANCA	Uncertain significance	1032990637	RCV001115561\|RCV002556270;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89846302	89846302	16:g.89846302T>G	-
NM_000135.4(FANCA):c.1683_1689del (p.Gly562fs)	2175	FANCA	Likely pathogenic	2039643136	RCV001256253;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846303	89846309	16:g.89846303_89846309del	-
NM_000135.4(FANCA):c.1683G>A (p.Thr561=)	2175	FANCA	Benign/Likely benign	143451067	RCV000526450\|RCV001821474\|RCV002497047;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846309	89846309	NC_000016.9:g.89846309C>T	ClinGen:CA8252171	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1682C>T (p.Thr561Met)	2175	FANCA	Uncertain significance	148154682	RCV000667511\|RCV002530713;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89846310	89846310	16:g.89846310G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1676A>G (p.Glu559Gly)	2175	FANCA	Uncertain significance	753229112	RCV000630882\|RCV001276556;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846316	89846316	NC_000016.9:g.89846316T>C	ClinGen:CA8252176	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1675G>A (p.Glu559Lys)	2175	FANCA	Uncertain significance	201323171	RCV000384108\|RCV001094255\|RCV002522901;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89846317	89846317	NC_000016.9:g.89846317C>T	ClinGen:CA8252177	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1654G>A (p.Glu552Lys)	2175	FANCA	Uncertain significance	1012809189	RCV001333234\|RCV002546620;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89846338	89846338	89846338	-
NM_000135.4(FANCA):c.1654G>T (p.Glu552Ter)	2175	FANCA	Likely pathogenic	-1	RCV002309621;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846338	89846338	89846338	-
NM_000135.4(FANCA):c.1645C>T (p.Gln549Ter)	2175	FANCA	Pathogenic	779745863	RCV001205456\|RCV001256252\|RCV003393883;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89846347	89846347	16:g.89846347G>A	-
NM_000135.4(FANCA):c.1634G>T (p.Ser545Ile)	2175	FANCA	Conflicting interpretations of pathogenicity	200922390	RCV001225538\|RCV001563817;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846358	89846358	16:g.89846358C>A	-
NM_000135.4(FANCA):c.1632C>A (p.His544Gln)	2175	FANCA	Conflicting interpretations of pathogenicity	553129361	RCV000870231\|RCV001115562\|RCV002539952;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89846360	89846360	16:g.89846360G>T	-
NM_000135.4(FANCA):c.1630del (p.His544fs)	2175	FANCA	Likely pathogenic	-1	RCV003460166;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846362	89846362		-
NM_000135.4(FANCA):c.1627C>T (p.Pro543Ser)	2175	FANCA	Uncertain significance	763074159	RCV001300011\|RCV001563819;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846365	89846365	89846365	-
NM_000135.4(FANCA):c.1627-1G>T	2175	FANCA	Pathogenic	2039644862	RCV001256581;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846366	89846366	16:g.89846366C>A	-
NC_000016.10:g.(89779958_89782858)_(89784965_89791402)del	2175	FANCA	Pathogenic	-1	RCV001256358;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846366	89857810	-1	-
NC_000016.10:g.(89779958_89782858)_(89796019_89799165)del	2175	FANCA	Pathogenic	-1	RCV001256462;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846366	89865573	-1	-
NC_000016.10:g.(89779958_89782858)_(89799233_89799604)del	2175	FANCA	Pathogenic	-1	RCV001256452;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846366	89866012	-1	-
NC_000016.10:g.(89779958_89782858)_(89805393_89808293)del	2175	FANCA	Uncertain significance	-1	RCV001256550;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89846366	89874701	-1	-
NM_000135.4(FANCA):c.1627-32T>C	2175	FANCA	Benign	17226337	RCV000247510\|RCV001537716\|RCV001689775;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89846397	89846397	16:g.89846397A>G	ClinGen:CA8252196	CN169374 not specified;
NM_000135.4(FANCA):c.1471-738_1627-883del	2175	FANCA	Uncertain significance	-1	RCV001256470;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89847248	89850248	16:g.89847248_89847346del	-
NM_000135.4(FANCA):c.1626+16C>T	2175	FANCA	Benign/Likely benign	1800333	RCV000252566\|RCV001520809\|RCV002264925\|RCV003316329;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849251	89849251	16:g.89849251G>A	ClinGen:CA8252222	CN169374 not specified;
NM_000135.4(FANCA):c.1625A>T (p.Glu542Val)	2175	FANCA	Uncertain significance	587778310	RCV000120918\|RCV000672500;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849268	89849268	16:g.89849268T>A	ClinGen:CA159250	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1615del (p.Asp539fs)	2175	FANCA	Pathogenic	778507965	RCV000003612\|RCV001046987\|RCV003228892;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89849278	89849278	NC_000016.9:g.89849281del	ClinGen:CA252777,OMIM:607139.0005	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1607C>G (p.Ser536Ter)	2175	FANCA	Pathogenic/Likely pathogenic	769047348	RCV001944168\|RCV003464258;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849286	89849286	89849286	-
NM_000135.4(FANCA):c.1606del (p.Ser536fs)	2175	FANCA	Pathogenic	587776570	RCV000003615;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849287	89849287	NC_000016.9:g.89849287del	ClinGen:CA252780,OMIM:607139.0008	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1594G>C (p.Glu532Gln)	2175	FANCA	Uncertain significance	374490484	RCV001890394\|RCV002482646;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849299	89849299	89849299	-
NM_000135.4(FANCA):c.1585G>T (p.Gly529Ter)	2175	FANCA	Likely pathogenic	2039768709	RCV001263797;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849308	89849308	16:g.89849308C>A	-
NM_000135.4(FANCA):c.1574T>C (p.Ile525Thr)	2175	FANCA	Uncertain significance	752323052	RCV001314519\|RCV002486229;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849319	89849319	89849319	-
NM_000135.4(FANCA):c.1573A>G (p.Ile525Val)	2175	FANCA	Conflicting interpretations of pathogenicity	755925068	RCV000625425\|RCV001036418;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849320	89849320	16:g.89849320T>C	ClinGen:CA8252237	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1573A>T (p.Ile525Leu)	2175	FANCA	Uncertain significance	755925068	RCV001277945\|RCV001880241;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849320	89849320	16:g.89849320T>A	-
NM_000135.4(FANCA):c.1571C>G (p.Ser524Cys)	2175	FANCA	Uncertain significance	753719658	RCV001333233\|RCV002546619;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849322	89849322	89849322	-
NM_000135.4(FANCA):c.1568T>A (p.Val523Asp)	2175	FANCA	Uncertain significance	2039769336	RCV001277946;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849325	89849325	16:g.89849325A>T	-
NM_000135.4(FANCA):c.1567G>T (p.Val523Phe)	2175	FANCA	Uncertain significance	-1	RCV003081708\|RCV003143469;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849326	89849326	NC_000016.9:g.89849326C>A	-
NC_000016.10:g.(89782919_89783006)_(89783103_89784853)del	2175	FANCA	Pathogenic	-1	RCV001256475;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849327	89851261	-1	-
NM_000135.4(FANCA):c.1567-1G>C	2175	FANCA	Pathogenic/Likely pathogenic	1464032361	RCV001783247\|RCV002544246;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849327	89849327	89849327	-
NM_000135.4(FANCA):c.1567-11C>A	2175	FANCA	Conflicting interpretations of pathogenicity	34353618	RCV000270989\|RCV002056545;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849337	89849337	NC_000016.9:g.89849337G>T	ClinGen:CA8252246	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1567-20A>G	2175	FANCA	Likely pathogenic	775154397	RCV001256576\|RCV003399023;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849346	89849346	16:g.89849346T>C	-
NM_000135.4(FANCA):c.1566+6C>G	2175	FANCA	Uncertain significance	886939126	RCV001369783\|RCV002488154;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849409	89849409	89849409	-
NM_000135.4(FANCA):c.1566+3A>C	2175	FANCA	Pathogenic	2039773398	RCV001256575;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849412	89849412	16:g.89849412T>G	-
NM_000135.4(FANCA):c.1566+2C>T	2175	FANCA	Uncertain significance	1316950815	RCV000672636\|RCV002531319;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849413	89849413	16:g.89849413G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1566G>A (p.Lys522=)	2175	FANCA	Uncertain significance	1276716915	RCV001256574;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849415	89849415	16:g.89849415C>T	-
NM_000135.4(FANCA):c.1558G>C (p.Asp520His)	2175	FANCA	Uncertain significance	754123446	RCV000690546\|RCV001816707\|RCV002499227;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849423	89849423	NC_000016.9:g.89849423C>G	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1558G>A (p.Asp520Asn)	2175	FANCA	Uncertain significance	754123446	RCV000807357\|RCV001274143;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849423	89849423	16:g.89849423C>T	-
NM_000135.4(FANCA):c.1549C>T (p.Arg517Trp)	2175	FANCA	Uncertain significance	587778309	RCV000120916\|RCV000665475\|RCV000802124;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849432	89849432	NC_000016.9:g.89849432G>A	ClinGen:CA159244	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1535C>G (p.Ser512Ter)	2175	FANCA	Uncertain significance	2039774778	RCV001256573;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849446	89849446	16:g.89849446G>C	-
NM_000135.4(FANCA):c.1518C>T (p.Leu506=)	2175	FANCA	Uncertain significance	781524409	RCV000326012;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849463	89849463	NC_000016.9:g.89849463G>A	ClinGen:CA8252282	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1510C>T (p.Arg504Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	200291237	RCV000665582\|RCV001041382;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849471	89849471	16:g.89849471G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1508dup (p.Tyr503Ter)	2175	FANCA	Pathogenic	2039775751	RCV001256572;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849472	89849473	16:g.89849472_89849473insT	-
NM_000135.4(FANCA):c.1509C>G (p.Tyr503Ter)	2175	FANCA	Likely pathogenic	1598136954	RCV001775050;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849472	89849472	89849472	-
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser)	2175	FANCA	Benign	2239359	RCV000120917\|RCV000389853\|RCV001094298\|RCV001705885;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89849480	89849480	16:g.89849480C>T	ClinGen:CA159247,UniProtKB:O15360#VAR_009644	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1500C>T (p.Pro500=)	2175	FANCA	Likely benign	139276494	RCV001277947\|RCV001437567;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849481	89849481	16:g.89849481G>A	-
NM_000135.4(FANCA):c.1498C>T (p.Pro500Ser)	2175	FANCA	Uncertain significance	776371246	RCV001879181\|RCV002471173;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849483	89849483	89849483	-
NM_000135.4(FANCA):c.1492del (p.Leu498fs)	2175	FANCA	Pathogenic	-1	RCV002790014;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849489	89849489	NC_000016.9:g.89849492del	-
NM_000135.4(FANCA):c.1476_1477del (p.Ile493fs)	2175	FANCA	Likely pathogenic	1555554788	RCV000674034;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849504	89849505	16:g.89849504_89849505del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1477A>G (p.Ile493Val)	2175	FANCA	Uncertain significance	762828757	RCV002017965\|RCV002486680;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849504	89849504	89849504	-
NM_000135.4(FANCA):c.1475A>T (p.His492Leu)	2175	FANCA	Uncertain significance	925457555	RCV000468131\|RCV001256571;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849506	89849506	NC_000016.9:g.89849506T>A	ClinGen:CA16615044	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1475A>G (p.His492Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	925457555	RCV000669501;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849506	89849506	16:g.89849506T>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1471-1G>T	2175	FANCA	Pathogenic	2039777078	RCV001256474\|RCV003462829;	N	MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849511	89849511	16:g.89849511C>A	-
NC_000016.10:g.(89783103_89784853)_(89784965_89791402)del	2175	FANCA	Pathogenic	-1	RCV001256357;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849511	89857810	-1	-
NM_000135.4(FANCA):c.1471-8A>G	2175	FANCA	Likely benign	374717514	RCV000526101\|RCV002506290;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849518	89849518	NC_000016.9:g.89849518T>C	ClinGen:CA8252298	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1471-10C>G	2175	FANCA	Conflicting interpretations of pathogenicity	368356709	RCV001116988\|RCV002069890;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89849520	89849520	16:g.89849520G>C	-
NM_000135.4(FANCA):c.1471-12A>G	2175	FANCA	Conflicting interpretations of pathogenicity	9282684	RCV000249843\|RCV000295581\|RCV001516753\|RCV001509534;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89849522	89849522	16:g.89849522T>C	ClinGen:CA8252300	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1471-20G>A	2175	FANCA	Likely benign	374579239	RCV002206922\|RCV002498216;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89849530	89849530	89849530	-
NM_000135.4(FANCA):c.1471-73G>A	2175	FANCA	Benign	2239360	RCV001537717\|RCV001685452;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89849583	89849583	89849583	-
NM_000135.4(FANCA):c.1471-119A>T	2175	FANCA	Benign	12448860	RCV001537718\|RCV001676035;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89849629	89849629	89849629	-
NM_000135.4(FANCA):c.1470+2T>C	2175	FANCA	Pathogenic/Likely pathogenic	2039844134	RCV001215768\|RCV002497735;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851260	89851260	16:g.89851260A>G	-
NM_000135.4(FANCA):c.1470+1G>A	2175	FANCA	Likely pathogenic	1555556175	RCV000667155;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851261	89851261	16:g.89851261C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1470+1G>T	2175	FANCA	Pathogenic	1555556175	RCV001256468;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851261	89851261	16:g.89851261C>A	-
NM_000135.4(FANCA):c.1470G>A (p.Gln490=)	2175	FANCA	Pathogenic	2039844218	RCV001256467;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851262	89851262	16:g.89851262C>T	-
NM_000135.4(FANCA):c.1468C>T (p.Gln490Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1266348463	RCV001263798\|RCV001880068;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89851264	89851264	16:g.89851264G>A	-
NM_000135.4(FANCA):c.1464C>G (p.Tyr488Ter)	2175	FANCA	Pathogenic	2039844441	RCV001256466;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851268	89851268	16:g.89851268G>C	-
NM_000135.4(FANCA):c.1463A>G (p.Tyr488Cys)	2175	FANCA	Uncertain significance	748907151	RCV000704355\|RCV001274148;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851269	89851269	NC_000016.9:g.89851269T>C	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1459dup (p.Arg487fs)	2175	FANCA	Pathogenic/Likely pathogenic	2039844868	RCV001256366\|RCV001806088;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89851272	89851273	16:g.89851272_89851273insG	-
NM_000135.4(FANCA):c.1450G>T (p.Glu484Ter)	2175	FANCA	Likely pathogenic	2039845162	RCV001264168;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851282	89851282	16:g.89851282C>A	-
NM_000135.4(FANCA):c.1445C>G (p.Pro482Arg)	2175	FANCA	Uncertain significance	768676657	RCV000816328\|RCV001274149\|RCV002271589\|RCV002478900;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:CN517202	16	89851287	89851287	16:g.89851287G>C	-
NM_000135.4(FANCA):c.1430del (p.Leu477fs)	2175	FANCA	Pathogenic	2039845956	RCV001256365;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851302	89851302	16:g.89851302_89851302del	-
NM_000135.4(FANCA):c.1424C>T (p.Thr475Met)	2175	FANCA	Uncertain significance	761957732	RCV000476812\|RCV002489042\|RCV003317216;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89851308	89851308	NC_000016.9:g.89851308G>A	ClinGen:CA8252339	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1413C>T (p.Val471=)	2175	FANCA	Conflicting interpretations of pathogenicity	201561753	RCV000866653\|RCV001116989;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851319	89851319	16:g.89851319G>A	-
NM_000135.4(FANCA):c.1408C>G (p.Leu470Val)	2175	FANCA	Uncertain significance	752092543	RCV001116990\|RCV001350777;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89851324	89851324	16:g.89851324G>C	-
NM_000135.4(FANCA):c.1408C>A (p.Leu470Met)	2175	FANCA	Uncertain significance	752092543	RCV001315162\|RCV003145556;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851324	89851324	89851324	-
NM_000135.4(FANCA):c.1406C>T (p.Ala469Val)	2175	FANCA	Uncertain significance	2039846606	RCV001324258\|RCV002486298;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851326	89851326	89851326	-
NM_000135.4(FANCA):c.1398C>G (p.Ser466Arg)	2175	FANCA	Uncertain significance	565303230	RCV001340196\|RCV002493746;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851334	89851334	89851334	-
NM_000135.4(FANCA):c.1394G>C (p.Cys465Ser)	2175	FANCA	Uncertain significance	2039847109	RCV001342427\|RCV002493755;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851338	89851338	89851338	-
NM_000135.4(FANCA):c.1378C>T (p.Arg460Ter)	2175	FANCA	Pathogenic	1438828232	RCV000667535\|RCV001868216;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89851354	89851354	16:g.89851354G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1371G>T (p.Gly457=)	2175	FANCA	Likely benign	369988875	RCV001404968\|RCV001276557;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851361	89851361	16:g.89851361C>A	-
NM_000135.4(FANCA):c.1367T>C (p.Phe456Ser)	2175	FANCA	Likely pathogenic	-1	RCV003232890;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851365	89851365		-
NM_000135.4(FANCA):c.1360-16_1363dup	2175	FANCA	Uncertain significance	1555556321	RCV000674089;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851368	89851369	16:g.89851368_89851369insAGGCCTGTGTGGAGAGAAGA	-	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.(89784965_89791402)_(89792069_89792470)del	2175	FANCA	Pathogenic	-1	RCV001256236;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851373	89858878	-1	-
NC_000016.10:g.(89784965_89791402)_(89792548_89795905)del	2175	FANCA	Pathogenic	-1	RCV001256565;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851373	89862313	-1	-
NC_000016.10:g.(89784965_89791402)_(89796019_89799165)del	2175	FANCA	Pathogenic	-1	RCV001256461;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851373	89865573	-1	-
NC_000016.10:g.(89784965_89791402)_(89799639_89803258)del	2175	FANCA	Uncertain significance	-1	RCV001256342;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851373	89869666	-1	-
NC_000016.10:g.(89784965_89791402)_(89805393_89808293)del	2175	FANCA	Pathogenic	-1	RCV001256549;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851373	89874701	-1	-
NC_000016.10:g.(89784965_89791402)_(89808368_89810706)del	2175	FANCA	Pathogenic	-1	RCV001256449;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851373	89877114	-1	-
NC_000016.10:g.(89784965_89791402)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256324;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851373	89883065	-1	-
NM_000135.4(FANCA):c.1360-4A>G	2175	FANCA	Likely benign	746911316	RCV000537057\|RCV002506289;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851376	89851376	16:g.89851376T>C	ClinGen:CA624257208	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1360-7C>T	2175	FANCA	Benign	17232616	RCV000331408\|RCV001094299\|RCV001706515\|RCV002480145;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374	16	89851379	89851379	NC_000016.9:g.89851379G>A	ClinGen:CA8252353	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1360-10C>G	2175	FANCA	Benign/Likely benign	150836356	RCV000862982\|RCV001274151\|RCV001816952;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89851382	89851382	16:g.89851382G>C	-
NM_000135.4(FANCA):c.1360-12C>T	2175	FANCA	Likely benign	951725614	RCV001941332\|RCV002497822;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89851384	89851384	89851384	-
NM_000135.4(FANCA):c.894-1137_1359+1837del	2175	FANCA	Pathogenic	-1	RCV001256458;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89855974	89863563	NC_000016.9:g.89855974_89863563del	-
NM_000135.4(FANCA):c.1359+10C>T	2175	FANCA	Benign/Likely benign	34159559	RCV000385999\|RCV000501771\|RCV000514654\|RCV001094424;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857801	89857801	NC_000016.9:g.89857801G>A	ClinGen:CA8252389	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1359+5G>C	2175	FANCA	Uncertain significance	183569738	RCV000494125\|RCV001221856\|RCV002481567;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857806	89857806	NC_000016.9:g.89857806C>G	ClinGen:CA8252393
NM_000135.4(FANCA):c.1359+4A>T	2175	FANCA	Uncertain significance	35476732	RCV001337474\|RCV002486347;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857807	89857807	89857807	-
NM_000135.4(FANCA):c.1359+1G>C	2175	FANCA	Pathogenic	1555561294	RCV000672477\|RCV002532125;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89857810	89857810	16:g.89857810C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1352G>A (p.Trp451Ter)	2175	FANCA	Likely pathogenic	-1	RCV002282807\|RCV003464430;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857818	89857818	89857818	-
NM_000135.4(FANCA):c.1348G>A (p.Asp450Asn)	2175	FANCA	Uncertain significance	1262122499	RCV001055866\|RCV001274152;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857822	89857822	16:g.89857822C>T	-
NM_000135.4(FANCA):c.1345G>A (p.Ala449Thr)	2175	FANCA	Uncertain significance	2040073158	RCV001040449\|RCV002481880;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857825	89857825	16:g.89857825C>T	-
NM_000135.4(FANCA):c.1343A>G (p.Tyr448Cys)	2175	FANCA	Pathogenic	769203048	RCV002254010;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857827	89857827	89857827	-
NM_000135.4(FANCA):c.1342T>C (p.Tyr448His)	2175	FANCA	Conflicting interpretations of pathogenicity	1567635573	RCV000761270\|RCV002533863;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89857828	89857828	NC_000016.9:g.89857828A>G	-
NM_000135.4(FANCA):c.1340C>T (p.Ser447Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	149551759	RCV000226416\|RCV001094425\|RCV001762513\|RCV003401165;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|	16	89857830	89857830	NC_000016.9:g.89857830G>A	ClinGen:CA8252400	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1340C>G (p.Ser447Ter)	2175	FANCA	Pathogenic	149551759	RCV000499830\|RCV001857096;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89857830	89857830	NC_000016.9:g.89857830G>C	ClinGen:CA397463723	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1331C>T (p.Ala444Val)	2175	FANCA	Uncertain significance	144234991	RCV000807171\|RCV002501089;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857839	89857839	16:g.89857839G>A	-
NM_000135.4(FANCA):c.1328C>G (p.Ser443Cys)	2175	FANCA	Uncertain significance	367733447	RCV000337256\|RCV001094426;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857842	89857842	NC_000016.9:g.89857842G>C	ClinGen:CA8252403	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1326del (p.Ser443fs)	2175	FANCA	Likely pathogenic	-1	RCV003468095;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857844	89857844		-
NM_000135.4(FANCA):c.1315C>A (p.Leu439Met)	2175	FANCA	Uncertain significance	1307948857	RCV000630875\|RCV001274154\|RCV002533173;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89857855	89857855	NC_000016.9:g.89857855G>T	ClinGen:CA397463908	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1307A>G (p.Gln436Arg)	2175	FANCA	Pathogenic/Likely pathogenic	2040074214	RCV001376747\|RCV001726536;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857863	89857863	89857863	-
NM_000135.4(FANCA):c.1304G>A (p.Arg435His)	2175	FANCA	Pathogenic/Likely pathogenic	1060501879	RCV000464366\|RCV001256354;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857866	89857866	NC_000016.9:g.89857866C>T	ClinGen:CA16615049	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1304G>T (p.Arg435Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	1060501879	RCV000672654\|RCV001378203;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89857866	89857866	16:g.89857866C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1303C>T (p.Arg435Cys)	2175	FANCA	Pathogenic/Likely pathogenic	148473140	RCV000671453\|RCV000805493;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89857867	89857867	NC_000016.9:g.89857867G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1294del (p.Leu432fs)	2175	FANCA	Pathogenic/Likely pathogenic	1211579979	RCV001385308\|RCV001820084\|RCV001780347;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857876	89857876	89857875	-
NM_000135.4(FANCA):c.1292dup (p.Leu432fs)	2175	FANCA	Pathogenic/Likely pathogenic	1416639878	RCV001256246\|RCV001879786;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89857877	89857878	16:g.89857877_89857878insA	-
NM_000135.4(FANCA):c.1290G>A (p.Ala430=)	2175	FANCA	Benign/Likely benign	1800332	RCV000246529\|RCV000397280\|RCV001094427\|RCV001706287;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89857880	89857880	16:g.89857880C>T	ClinGen:CA8252411	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1290G>T (p.Ala430=)	2175	FANCA	Likely benign	1800332	RCV000526863\|RCV002483351;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857880	89857880	NC_000016.9:g.89857880C>A	ClinGen:CA8252412	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1287del (p.Ala430fs)	2175	FANCA	Likely pathogenic	-1	RCV003468106;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857883	89857883		-
NM_000135.4(FANCA):c.1281G>C (p.Met427Ile)	2175	FANCA	Likely benign	747322973	RCV000807004\|RCV001274156;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857889	89857889	16:g.89857889C>G	-
NM_000135.4(FANCA):c.1279A>G (p.Met427Val)	2175	FANCA	Uncertain significance	368103890	RCV001323812\|RCV002291746;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857891	89857891	89857891	-
NM_000135.4(FANCA):c.1273dup (p.Asp425fs)	2175	FANCA	Likely pathogenic	-1	RCV003460141;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857896	89857897		-
NM_000135.4(FANCA):c.1273G>C (p.Asp425His)	2175	FANCA	Uncertain significance	1555561398	RCV000670589;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857897	89857897	16:g.89857897C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1267C>T (p.Gln423Ter)	2175	FANCA	Pathogenic/Likely pathogenic	774026652	RCV000674566\|RCV001683628;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89857903	89857903	16:g.89857903G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1258G>A (p.Glu420Lys)	2175	FANCA	Likely pathogenic	-1	RCV003460136;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857912	89857912		-
NM_000135.4(FANCA):c.1251G>T (p.Gln417His)	2175	FANCA	Uncertain significance	779068860	RCV002043708\|RCV002479806;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857919	89857919	89857919	-
NM_000135.4(FANCA):c.1244T>C (p.Met415Thr)	2175	FANCA	Uncertain significance	912838333	RCV000690749\|RCV003144509;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857926	89857926	NC_000016.9:g.89857926A>G	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1237C>T (p.Arg413Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	780135578	RCV001345449\|RCV002486403;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857933	89857933	89857933	-
NM_000135.4(FANCA):c.1236G>A (p.Ala412=)	2175	FANCA	Likely benign	371993688	RCV001410300\|RCV002493967;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857934	89857934	89857934	-
NM_000135.4(FANCA):c.1235C>T (p.Ala412Val)	2175	FANCA	Benign/Likely benign	11646374	RCV000120915\|RCV000278826\|RCV001094428\|RCV001705884;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89857935	89857935	16:g.89857935G>A	ClinGen:CA159241,UniProtKB:O15360#VAR_050986	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1231_1234del (p.Val411fs)	2175	FANCA	Likely pathogenic	-1	RCV003468109;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857936	89857939		-
NC_000016.10:g.(89791537_89791926)_(89792069_89792470)del	2175	FANCA	Pathogenic	-1	RCV001256235;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857945	89858878	-1	-
NC_000016.10:g.(89791537_89791926)_(89799233_89799604)del	2175	FANCA	Pathogenic	-1	RCV001256353;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857945	89866012	-1	-
NM_000135.4(FANCA):c.1226-2A>G	2175	FANCA	Pathogenic/Likely pathogenic	773906241	RCV000507098\|RCV000701341\|RCV000667573;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857946	89857946	16:g.89857946T>C	ClinGen:CA8252436	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1226-6_1226-2del	2175	FANCA	Pathogenic	2040076730	RCV001256245;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857946	89857950	16:g.89857946_89857950del	-
NM_000135.4(FANCA):c.1226-2A>C	2175	FANCA	Likely pathogenic	-1	RCV003460170;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857946	89857946		-
NM_000135.4(FANCA):c.1226-4C>G	2175	FANCA	Uncertain significance	934483477	RCV001225926\|RCV002504293;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857948	89857948	16:g.89857948G>C	-
NM_000135.4(FANCA):c.1226-12G>C	2175	FANCA	Conflicting interpretations of pathogenicity	36011345	RCV001120262\|RCV002069955;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89857956	89857956	16:g.89857956C>G	-
NM_000135.4(FANCA):c.1226-13G>A	2175	FANCA	Uncertain significance	377159744	RCV001997714\|RCV002463369;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857957	89857957	89857957	-
NM_000135.4(FANCA):c.1226-20A>G	2175	FANCA	Benign	1800330	RCV000249965\|RCV001510316\|RCV001537719;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89857964	89857964	NC_000016.9:g.89857964T>C	ClinGen:CA8252443	CN169374 not specified;
NM_000135.4(FANCA):c.1226-80T>C	2175	FANCA	Benign	6500450	RCV001537720\|RCV001673146;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89858024	89858024	89858024	-
NM_000135.4(FANCA):c.1225+151T>C	2175	FANCA	Benign	6500451	RCV001537721\|RCV001658259;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89858184	89858184	89858184	-
NM_000135.4(FANCA):c.1225+14C>T	2175	FANCA	Conflicting interpretations of pathogenicity	376558078	RCV002007118\|RCV002492114;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858321	89858321	89858321	-
NM_000135.4(FANCA):c.1225+12C>T	2175	FANCA	Likely benign	200672872	RCV001494672\|RCV002501698;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858323	89858323	89858323	-
NM_000135.4(FANCA):c.1222G>T (p.Glu408Ter)	2175	FANCA	Likely pathogenic	-1	RCV002310117;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858338	89858338	89858338	-
NM_000135.4(FANCA):c.1220T>G (p.Leu407Arg)	2175	FANCA	Pathogenic	2040089994	RCV001256244;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858340	89858340	16:g.89858340A>C	-
NM_000135.4(FANCA):c.1219C>G (p.Leu407Val)	2175	FANCA	Uncertain significance	748005916	RCV001369682\|RCV002488153;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858341	89858341	89858341	-
NM_000135.4(FANCA):c.1213C>T (p.Gln405Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1280130060	RCV001943582\|RCV003464242;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858347	89858347	89858347	-
NM_000135.4(FANCA):c.1209G>A (p.Ala403=)	2175	FANCA	Conflicting interpretations of pathogenicity	773318145	RCV000343238\|RCV001094429\|RCV001820958;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89858351	89858351	NC_000016.9:g.89858351C>T	ClinGen:CA8252481	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1193_1196del (p.Val398fs)	2175	FANCA	Pathogenic	2040090895	RCV001256243\|RCV001257299;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019828,MedGen:C4053775, Orphanet:95496	16	89858364	89858367	16:g.89858364_89858367del	-
NM_000135.4(FANCA):c.1164_1165del (p.Arg388fs)	2175	FANCA	Pathogenic	2040091643	RCV001256242;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858395	89858396	16:g.89858395_89858396del	-
NM_000135.4(FANCA):c.1165G>T (p.Val389Leu)	2175	FANCA	Likely pathogenic	-1	RCV002285083;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858395	89858395	89858395	-
NM_000135.4(FANCA):c.1162A>T (p.Arg388Ter)	2175	FANCA	Likely pathogenic	2040091746	RCV001264169;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858398	89858398	16:g.89858398T>A	-
NM_000135.4(FANCA):c.1159C>T (p.Gln387Ter)	2175	FANCA	Pathogenic	-1	RCV003460164;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858401	89858401		-
NM_000135.4(FANCA):c.1158G>A (p.Trp386Ter)	2175	FANCA	Pathogenic/Likely pathogenic	752864343	RCV000801557\|RCV003461133;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858402	89858402	16:g.89858402C>T	-
NM_000135.4(FANCA):c.1153C>T (p.His385Tyr)	2175	FANCA	Uncertain significance	757760966	RCV001256241\|RCV002570430;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89858407	89858407	16:g.89858407G>A	-
NM_000135.4(FANCA):c.1150G>T (p.Val384Phe)	2175	FANCA	Uncertain significance	751071791	RCV001120263\|RCV002558192;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89858410	89858410	16:g.89858410C>A	-
NM_000135.4(FANCA):c.1150G>A (p.Val384Ile)	2175	FANCA	Uncertain significance	751071791	RCV002018481\|RCV002479785;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858410	89858410	89858410	-
NM_000135.4(FANCA):c.1147del (p.Glu383fs)	2175	FANCA	Pathogenic	2040092247	RCV001256240;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858413	89858413	16:g.89858413_89858413del	-
NM_000135.4(FANCA):c.1144C>T (p.Gln382Ter)	2175	FANCA	Pathogenic	769718381	RCV001383443\|RCV003462991;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858416	89858416	89858416	-
NM_000135.4(FANCA):c.1143G>T (p.Thr381=)	2175	FANCA	Benign	1800331	RCV000253426\|RCV000397277\|RCV001094442\|RCV001711523;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89858417	89858417	16:g.89858417C>A	ClinGen:CA8252498	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1143G>A (p.Thr381=)	2175	FANCA	Conflicting interpretations of pathogenicity	1800331	RCV000631010\|RCV001120560;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858417	89858417	NC_000016.9:g.89858417C>T	ClinGen:CA8252499	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1141A>G (p.Thr381Ala)	2175	FANCA	Uncertain significance	774319222	RCV001045487\|RCV002481919;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858419	89858419	16:g.89858419T>C	-
NM_000135.4(FANCA):c.1124T>G (p.Leu375Trp)	2175	FANCA	Uncertain significance	2040093463	RCV001256239;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858436	89858436	16:g.89858436A>C	-
NM_000135.4(FANCA):c.1115_1118del (p.Val372fs)	2175	FANCA	Pathogenic	397507552	RCV000003609\|RCV000463426\|RCV001091063;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89858442	89858445	16:g.89858442_89858445del	ClinGen:CA340092,OMIM:607139.0002	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1114G>T (p.Val372Phe)	2175	FANCA	Uncertain significance	982286482	RCV000819546\|RCV002501132;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858446	89858446	16:g.89858446C>A	-
NM_000135.4(FANCA):c.1087T>C (p.Phe363Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	531100141	RCV001051272\|RCV002481962;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858473	89858473	16:g.89858473A>G	-
NM_000135.4(FANCA):c.1085T>C (p.Leu362Pro)	2175	FANCA	Pathogenic	2040094645	RCV001256238;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858475	89858475	16:g.89858475A>G	-
NC_000016.10:g.(89792069_89792470)_(89799233_89799604)del	2175	FANCA	Pathogenic	-1	RCV001256352;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858477	89866012	-1	-
NC_000016.10:g.(89792069_89792470)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256323;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858477	89883065	-1	-
NM_000135.4(FANCA):c.1084-1G>T	2175	FANCA	Likely pathogenic	-1	RCV003460138;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858477	89858477		-
NM_000135.4(FANCA):c.1084-29A>G	2175	FANCA	Benign	6500452	RCV000245519\|RCV001537722\|RCV001689774;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89858505	89858505	16:g.89858505T>C	ClinGen:CA8252518	CN169374 not specified;
NM_000135.4(FANCA):c.1084-49G>C	2175	FANCA	Benign	1800287	RCV000250482\|RCV001618364\|RCV001537723;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858525	89858525	NC_000016.9:g.89858525C>G	ClinGen:CA8252522	CN169374 not specified;
NM_000135.4(FANCA):c.1083+120G>A	2175	FANCA	Benign	17226159	RCV001537724\|RCV001615259;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89858759	89858759	89858759	-
NM_000135.4(FANCA):c.1074_1075del (p.Tyr359fs)	2175	FANCA	Pathogenic/Likely pathogenic	878853660	RCV000228729\|RCV001782717;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858887	89858888	16:g.89858887_89858888del	ClinGen:CA10583440	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1073T>G (p.Leu358Arg)	2175	FANCA	Pathogenic	1045404649	RCV001256569;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858889	89858889	16:g.89858889A>C	-
NM_000135.4(FANCA):c.1070C>A (p.Ser357Ter)	2175	FANCA	Likely pathogenic	773687142	RCV001264170;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858892	89858892	16:g.89858892G>T	-
NM_000135.4(FANCA):c.1061T>A (p.Leu354Gln)	2175	FANCA	Uncertain significance	-1	RCV003154597;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858901	89858901		-
NM_000135.4(FANCA):c.1049G>A (p.Arg350Gln)	2175	FANCA	Conflicting interpretations of pathogenicity	199967286	RCV000120914\|RCV001239310\|RCV001120561;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858913	89858913	16:g.89858913C>T	ClinGen:CA159238	CN169374 not specified;
NM_000135.4(FANCA):c.1049G>T (p.Arg350Leu)	2175	FANCA	Uncertain significance	199967286	RCV000505911\|RCV001276558\|RCV001857267;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89858913	89858913	NC_000016.9:g.89858913C>A	ClinGen:CA397466709	CN169374 not specified;
NM_000135.4(FANCA):c.1048C>T (p.Arg350Trp)	2175	FANCA	Uncertain significance	150290184	RCV000503436\|RCV002524182\|RCV002481612;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858914	89858914	NC_000016.9:g.89858914G>A	ClinGen:CA8252551	CN169374 not specified;
NM_000135.4(FANCA):c.1047G>A (p.Ala349=)	2175	FANCA	Benign/Likely benign	144900606	RCV000761974\|RCV001085922\|RCV002499036;	N	MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858915	89858915	16:g.89858915C>T	ClinGen:CA8252552	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1046C>T (p.Ala349Val)	2175	FANCA	Uncertain significance	142620413	RCV000534540\|RCV001120562;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858916	89858916	16:g.89858916G>A	ClinGen:CA8252553	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1038G>C (p.Trp346Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	750257902	RCV000670612\|RCV002532102;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89858924	89858924	16:g.89858924C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1037G>A (p.Trp346Ter)	2175	FANCA	Likely pathogenic	-1	RCV003468116;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858925	89858925		-
NM_000135.4(FANCA):c.1034_1035del (p.Glu345fs)	2175	FANCA	Pathogenic/Likely pathogenic	769580546	RCV000674955\|RCV000799363\|RCV003311879;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89858927	89858928	NC_000016.9:g.89858927CT[3]	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1027C>T (p.Gln343Ter)	2175	FANCA	Pathogenic	755018069	RCV001063647\|RCV001256568;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858935	89858935	16:g.89858935G>A	-
NM_000135.4(FANCA):c.1018G>A (p.Val340Ile)	2175	FANCA	Uncertain significance	774948790	RCV001223864\|RCV001819922\|RCV002484213;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858944	89858944	16:g.89858944C>T	-
NM_000135.4(FANCA):c.1008A>G (p.Ala336=)	2175	FANCA	Likely benign	1460026241	RCV000867515\|RCV001276559;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858954	89858954	16:g.89858954T>C	-
NM_000135.4(FANCA):c.1007-1del	2175	FANCA	Pathogenic	2040110823	RCV001256564;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858956	89858956	16:g.89858956_89858956del	-
NC_000016.10:g.(89792548_89795905)_(89803342_89805279)del	2175	FANCA	Pathogenic	-1	RCV001256225;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858956	89871687	-1	-
NC_000016.10:g.(89792548_89795905)_(89805393_89808293)del	2175	FANCA	Pathogenic	-1	RCV001256548;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858956	89874701	-1	-
NC_000016.10:g.(89792548_89795905)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256322;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858956	89883065	-1	-
NM_000135.4(FANCA):c.1007-2A>G	2175	FANCA	Pathogenic/Likely pathogenic	2040110878	RCV002000789\|RCV003471230;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858957	89858957	89858957	-
NM_000135.4(FANCA):c.1007-3C>T	2175	FANCA	Uncertain significance	557382436	RCV001238987\|RCV002491781;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858958	89858958	16:g.89858958G>A	-
NM_000135.4(FANCA):c.1007-7C>G	2175	FANCA	Conflicting interpretations of pathogenicity	111271660	RCV000302983\|RCV001094443;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858962	89858962	NC_000016.9:g.89858962G>C	ClinGen:CA8252565	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.1007-17T>C	2175	FANCA	Benign/Likely benign	760059831	RCV002132092\|RCV002486896;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89858972	89858972	89858972	-
NM_000135.4(FANCA):c.1006+112G>A	2175	FANCA	Benign	17226075	RCV001537725\|RCV001685453;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89862202	89862202	89862202	-
NM_000135.4(FANCA):c.1006+2_1006+5del	2175	FANCA	Pathogenic	2040229450	RCV001256560;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862309	89862312	16:g.89862309_89862312del	-
NM_000135.4(FANCA):c.1006+1G>T	2175	FANCA	Likely pathogenic	1555564436	RCV000672458\|RCV001203018;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89862313	89862313	16:g.89862313C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1006+1G>A	2175	FANCA	Likely pathogenic	-1	RCV003468110;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862313	89862313		-
NM_000135.4(FANCA):c.1004A>C (p.Lys335Thr)	2175	FANCA	Uncertain significance	752532498	RCV001324207\|RCV001535512;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862316	89862316	89862316	-
NM_000135.4(FANCA):c.989_995del (p.His330fs)	2175	FANCA	Likely pathogenic	1555564451	RCV000667063;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862325	89862331	16:g.89862325_89862331del	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.994C>A (p.Pro332Thr)	2175	FANCA	Uncertain significance	1056497675	RCV001940636\|RCV002484538;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862326	89862326	89862326	-
NM_000135.4(FANCA):c.991del (p.Ser331fs)	2175	FANCA	Pathogenic/Likely pathogenic	746236214	RCV001806722\|RCV002503294;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862329	89862329	89862328	-
NM_000135.4(FANCA):c.987_990del (p.His330fs)	2175	FANCA	Pathogenic	772359099	RCV000190585\|RCV000483448\|RCV000804476;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89862330	89862333	NC_000016.9:g.89862332GAGT[1]	ClinGen:CA276002	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.982C>G (p.Leu328Val)	2175	FANCA	Uncertain significance	779244841	RCV001248243\|RCV002499433;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862338	89862338	16:g.89862338G>C	-
NM_000135.4(FANCA):c.978_979del (p.Gln326fs)	2175	FANCA	Pathogenic	2040231133	RCV001256559;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862341	89862342	16:g.89862341_89862342del	-
NM_000135.4(FANCA):c.971T>G (p.Leu324Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	1447363475	RCV000527193\|RCV000673548;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862349	89862349	NC_000016.9:g.89862349A>C	ClinGen:CA397469937	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.971T>C (p.Leu324Pro)	2175	FANCA	Likely pathogenic	-1	RCV002286879;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862349	89862349	89862349	-
NM_000135.4(FANCA):c.964C>T (p.His322Tyr)	2175	FANCA	Conflicting interpretations of pathogenicity	772768595	RCV000548806\|RCV000674060;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862356	89862356	NC_000016.9:g.89862356G>A	ClinGen:CA8252610	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.953G>T (p.Arg318Met)	2175	FANCA	Conflicting interpretations of pathogenicity	72552377	RCV000560274\|RCV001120563;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862367	89862367	16:g.89862367C>A	ClinGen:CA8252614	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.944C>G (p.Pro315Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	764121307	RCV001035133\|RCV002481848;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862376	89862376	16:g.89862376G>C	-
NM_000135.4(FANCA):c.933_936delinsCT (p.Ser312fs)	2175	FANCA	Pathogenic	2040232900	RCV001256558;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862384	89862387	16:g.89862385_89862387del	-
NM_000135.4(FANCA):c.932T>C (p.Ile311Thr)	2175	FANCA	Benign/Likely benign	75501942	RCV000120913\|RCV000234294\|RCV001094444\|RCV003421999;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89862388	89862388	16:g.89862388A>G	ClinGen:CA159235	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.924C>A (p.Gly308=)	2175	FANCA	Likely benign	143255238	RCV001456909\|RCV002506533;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862396	89862396	89862396	-
NM_000135.4(FANCA):c.916_917del (p.Thr306fs)	2175	FANCA	Pathogenic/Likely pathogenic	764122657	RCV000556612\|RCV000668910;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862403	89862404	NC_000016.9:g.89862403GT[2]	ClinGen:CA8252628	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.917C>T (p.Thr306Met)	2175	FANCA	Uncertain significance	370852532	RCV001761678\|RCV001868772\|RCV003238551;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89862403	89862403	89862403	-
NM_000135.4(FANCA):c.908G>A (p.Ser303Asn)	2175	FANCA	Uncertain significance	1060501877	RCV000471304\|RCV002496759;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862412	89862412	NC_000016.9:g.89862412C>T	ClinGen:CA16615030	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.903G>T (p.Val301=)	2175	FANCA	Benign/Likely benign	56062548	RCV000230381\|RCV001120564\|RCV001818562\|RCV001800588;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	16	89862417	89862417	16:g.89862417C>A	ClinGen:CA8252637	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.898G>A (p.Gly300Arg)	2175	FANCA	Uncertain significance	1467900630	RCV001788968;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862422	89862422	89862422	-
NM_000135.4(FANCA):c.894-1G>A	2175	FANCA	Pathogenic	2040234338	RCV001256460;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862427	89862427	16:g.89862427C>T	-
NM_000135.4(FANCA):c.894-2A>G	2175	FANCA	Pathogenic/Likely pathogenic	976556567	RCV000673435\|RCV002255501;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89862428	89862428	16:g.89862428T>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.894-3C>G	2175	FANCA	Uncertain significance	2040234388	RCV001256459;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862429	89862429	16:g.89862429G>C	-
NM_000135.4(FANCA):c.894-8A>G	2175	FANCA	Benign	11648881	RCV000244364\|RCV000400068\|RCV001094263\|RCV001536706;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89862434	89862434	NC_000016.9:g.89862434T>C	ClinGen:CA8252643	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.894-10G>A	2175	FANCA	Likely benign	751912856	RCV000874757\|RCV002507530;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89862436	89862436	16:g.89862436C>T	-
NM_000135.4(FANCA):c.893+920C>A	2175	FANCA	Pathogenic	1174586234	RCV001256457;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89864654	89864654	16:g.89864654G>T	-
NM_000135.4(FANCA):c.891_893+1del	2175	FANCA	Pathogenic	2040352874	RCV001247635\|RCV001256455;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865573	89865576	16:g.89865573_89865576del	-
NM_000135.4(FANCA):c.893+1G>T	2175	FANCA	Pathogenic	2040352832	RCV001256456;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865573	89865573	16:g.89865573C>A	-
NM_000135.4(FANCA):c.888G>A (p.Arg296=)	2175	FANCA	Likely benign	942855447	RCV000875447\|RCV002495314;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865579	89865579	16:g.89865579C>T	-
NM_000135.4(FANCA):c.874C>G (p.His292Asp)	2175	FANCA	Conflicting interpretations of pathogenicity	200220791	RCV000532298\|RCV000764090\|RCV001797096;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89865593	89865593	NC_000016.9:g.89865593G>C	ClinGen:CA8252711	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.869C>A (p.Ser290Tyr)	2175	FANCA	Conflicting interpretations of pathogenicity	185984960	RCV000231055\|RCV001274646\|RCV002261014;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89865598	89865598	NC_000016.9:g.89865598G>T	ClinGen:CA8252715	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.863_866dup (p.Ser290fs)	2175	FANCA	Likely pathogenic	1348367722	RCV000671112\|RCV000722326;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89865600	89865601	16:g.89865600_89865601insGACT	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.862G>T (p.Glu288Ter)	2175	FANCA	Pathogenic	148100796	RCV000120912\|RCV000474583\|RCV000665641\|RCV001818291;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89865605	89865605	16:g.89865605C>A	ClinGen:CA159232	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	13336566	RCV000120911\|RCV000469548\|RCV001115652\|RCV001509536;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89865610	89865610	16:g.89865610T>C	ClinGen:CA159229,UniProtKB:O15360#VAR_050985	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.856C>T (p.Gln286Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1291524243	RCV000668057\|RCV000813603\|RCV001092317;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89865611	89865611	NC_000016.9:g.89865611G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.851dup (p.Val285fs)	2175	FANCA	Pathogenic	1369685302	RCV001256454;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865615	89865616	16:g.89865615_89865616insC	-
NM_000135.4(FANCA):c.843G>C (p.Leu281Phe)	2175	FANCA	Uncertain significance	2143581630	RCV001563755;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865624	89865624	89865624	-
NM_000135.4(FANCA):c.839C>T (p.Ala280Val)	2175	FANCA	Uncertain significance	767092317	RCV000673713\|RCV001058370;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89865628	89865628	16:g.89865628G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.837C>T (p.Asp279=)	2175	FANCA	Conflicting interpretations of pathogenicity	752311383	RCV000866096\|RCV001115653\|RCV003424395;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89865630	89865630	16:g.89865630G>A	-
NM_000135.4(FANCA):c.827-1G>C	2175	FANCA	Likely pathogenic	753728435	RCV000671987;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865641	89865641	16:g.89865641C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.827-1G>T	2175	FANCA	Pathogenic	753728435	RCV001256351;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865641	89865641	16:g.89865641C>A	-
NC_000016.10:g.(89799233_89799604)_(89799639_89803258)del	2175	FANCA	Uncertain significance	-1	RCV001256341;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865641	89869666	-1	-
NM_000135.4(FANCA):c.827-2A>G	2175	FANCA	Uncertain significance	2040355782	RCV001256350;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89865642	89865642	16:g.89865642T>C	-
NM_000135.4(FANCA):c.826+5_826+9del	2175	FANCA	Likely pathogenic	797045570	RCV000192760;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866004	89866008	16:g.89866004_89866008del	ClinGen:CA205809	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.826+4del	2175	FANCA	Pathogenic	2040369776	RCV001256349;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866009	89866009	16:g.89866009_89866009del	-
NM_000135.4(FANCA):c.820C>T (p.Leu274=)	2175	FANCA	Pathogenic	2040370137	RCV001256348;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866019	89866019	16:g.89866019G>A	-
NM_000135.4(FANCA):c.811C>T (p.Gln271Ter)	2175	FANCA	Pathogenic/Likely pathogenic	372163487	RCV000410151\|RCV001223227\|RCV001509537;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89866028	89866028	16:g.89866028G>A	ClinGen:CA16041803	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.795_808del (p.Thr266fs)	2175	FANCA	Pathogenic	2040370883	RCV001256347;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866031	89866044	16:g.89866031_89866044del	-
NM_000135.4(FANCA):c.801T>C (p.Val267=)	2175	FANCA	Likely benign	55660936	RCV000871880\|RCV002501314;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866038	89866038	16:g.89866038A>G	-
NM_000135.4(FANCA):c.797C>T (p.Thr266Met)	2175	FANCA	Conflicting interpretations of pathogenicity	752799441	RCV002012325\|RCV002492095;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866042	89866042	89866042	-
NM_000135.4(FANCA):c.796A>G (p.Thr266Ala)	2175	FANCA	Benign	7190823	RCV000120967\|RCV000308742\|RCV001094264\|RCV001269374\|RCV001705891\|RCV002415609;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MeSH:D030342,MedGen:C0950123	16	89866043	89866043	16:g.89866043T>C	ClinGen:CA159381,UniProtKB:O15360#VAR_017496	C0015625 Fanconi anemia;
NC_000016.10:g.(89799639_89803258)_(89805393_89808293)del	2175	FANCA	Uncertain significance	-1	RCV001256547;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866047	89874701	-1	-
NC_000016.10:g.(89799639_89803258)_(89811072_89814519)del	2175	FANCA	Pathogenic	-1	RCV001256332;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866047	89880927	-1	-
NM_000135.4(FANCA):c.793-2A>C	2175	FANCA	Pathogenic	2040372065	RCV001256340;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866048	89866048	16:g.89866048T>G	-
NM_000135.4(FANCA):c.793-2A>T	2175	FANCA	Likely pathogenic	-1	RCV003468108;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866048	89866048		-
NM_000135.4(FANCA):c.793-3C>G	2175	FANCA	Conflicting interpretations of pathogenicity	749688050	RCV000670676\|RCV001204945;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89866049	89866049	16:g.89866049G>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.793-9T>C	2175	FANCA	Conflicting interpretations of pathogenicity	757500718	RCV000363325\|RCV000501039\|RCV001094265;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866055	89866055	NC_000016.9:g.89866055A>G	ClinGen:CA8252774	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.596+548_793-219del	2175	FANCA	Pathogenic	-1	RCV001256544;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89866265	89874154	NC_000016.9:g.89866277_89874166del	-
NM_000135.4(FANCA):c.522+507_793-1273del	2175	FANCA	Pathogenic	-1	RCV001256446;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89867319	89876608	NC_000016.9:g.89867339_89876628del	-
NM_000135.4(FANCA):c.792+1G>C	2175	FANCA	Pathogenic	-1	RCV003033612\|RCV003459701;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869666	89869666	NC_000016.9:g.89869666C>G	-
NM_000135.4(FANCA):c.792G>A (p.Gln264=)	2175	FANCA	Pathogenic	2040520107	RCV001256230;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869667	89869667	16:g.89869667C>T	-
NM_000135.4(FANCA):c.790C>T (p.Gln264Ter)	2175	FANCA	Pathogenic	1353992080	RCV000803831\|RCV001256229;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869669	89869669	16:g.89869669G>A	-
NM_000135.4(FANCA):c.784del (p.Met262fs)	2175	FANCA	Pathogenic	2040520715	RCV001256228;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869675	89869675	16:g.89869675_89869675del	-
NM_000135.4(FANCA):c.778G>A (p.Glu260Lys)	2175	FANCA	Conflicting interpretations of pathogenicity	201992220	RCV000593561\|RCV001243169\|RCV002483594;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869681	89869681	16:g.89869681C>T	ClinGen:CA8252812	CN169374 not specified;
NM_000135.4(FANCA):c.776C>G (p.Pro259Arg)	2175	FANCA	Uncertain significance	1598173112	RCV001255872\|RCV001859107;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89869683	89869683	16:g.89869683G>C	-
NM_000135.4(FANCA):c.775C>G (p.Pro259Ala)	2175	FANCA	Uncertain significance	200988394	RCV001059113\|RCV001274648\|RCV001800947;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89869684	89869684	16:g.89869684G>C	-
NM_000135.4(FANCA):c.768T>C (p.Thr256=)	2175	FANCA	Uncertain significance	1459779461	RCV001277948;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869691	89869691	16:g.89869691A>G	-
NM_000135.4(FANCA):c.767C>A (p.Thr256Asn)	2175	FANCA	Uncertain significance	377078635	RCV002051126\|RCV002254728;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869692	89869692	89869692	-
NM_000135.4(FANCA):c.761GAA[1] (p.Arg255del)	2175	FANCA	Uncertain significance	555210441	RCV000120965\|RCV000824515\|RCV001274649;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869693	89869695	NC_000016.9:g.89869694TCT[1]	ClinGen:CA159376
NM_000135.4(FANCA):c.754_755delinsAG (p.Asp252Ser)	2175	FANCA	Uncertain significance	587778324	RCV000120964\|RCV000533496\|RCV000764091\|RCV002272132;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89869704	89869705	NC_000016.9:g.89869704_89869705delinsCT	ClinGen:CA159373	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly)	2175	FANCA	Benign/Likely benign	17225943	RCV000120966\|RCV000268674\|RCV001094266\|RCV001705890;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89869704	89869704	16:g.89869704T>C	ClinGen:CA159379,UniProtKB:O15360#VAR_009641	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.752C>T (p.Ser251Leu)	2175	FANCA	Uncertain significance	878853666	RCV000227167\|RCV000674097;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869707	89869707	NC_000016.9:g.89869707G>A	ClinGen:CA10583442	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.742C>A (p.Gln248Lys)	2175	FANCA	Uncertain significance	760744752	RCV000685291\|RCV002493137;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869717	89869717	NC_000016.9:g.89869717G>T	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.737G>A (p.Gly246Glu)	2175	FANCA	Conflicting interpretations of pathogenicity	555519520	RCV001243722\|RCV002504349;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869722	89869722	16:g.89869722C>T	-
NM_000135.4(FANCA):c.732G>C (p.Leu244Phe)	2175	FANCA	Uncertain significance	2040522671	RCV001256227;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869727	89869727	16:g.89869727C>G	-
NM_000135.4(FANCA):c.718C>T (p.Gln240Ter)	2175	FANCA	Pathogenic	1184639006	RCV000666393\|RCV002530683;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89869741	89869741	16:g.89869741G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.714dup (p.Val239fs)	2175	FANCA	Likely pathogenic	-1	RCV002310075;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869744	89869745	89869744	-
NM_000135.4(FANCA):c.710-1G>C	2175	FANCA	Likely pathogenic	1388128874	RCV000673656;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869750	89869750	16:g.89869750C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.(89803342_89805279)_(89805393_89808293)del	2175	FANCA	Pathogenic	-1	RCV001256546;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869750	89874701	-1	-
NC_000016.10:g.(89803342_89805279)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256321;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869750	89883065	-1	-
NM_000135.4(FANCA):c.710-2A>G	2175	FANCA	Uncertain significance	2040523467	RCV001256224;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869751	89869751	16:g.89869751T>C	-
NM_000135.4(FANCA):c.710-5T>C	2175	FANCA	Pathogenic	2040523640	RCV001052274\|RCV001256223;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869754	89869754	16:g.89869754A>G	-
NM_000135.4(FANCA):c.710-10G>A	2175	FANCA	Conflicting interpretations of pathogenicity	2040524006	RCV001256222;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869759	89869759	16:g.89869759C>T	-
NM_000135.4(FANCA):c.710-12A>G	2175	FANCA	Benign	1800286	RCV000252873\|RCV000333219\|RCV001520660\|RCV001536163;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89869761	89869761	NC_000016.9:g.89869761T>C	ClinGen:CA8252828	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.710-20_710-19del	2175	FANCA	Likely benign	2040524550	RCV002075411\|RCV002486849;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89869768	89869769	89869767	-
NM_000135.4(FANCA):c.710-142_710-141dup	2175	FANCA	Benign	17232344	RCV001256221\|RCV001521740\|RCV001615142\|RCV002246236;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202\|MedGen:CN169374	16	89869889	89869890	16:g.89869889_89869890insGA	-
NM_000135.4(FANCA):c.709+5G>T	2175	FANCA	Likely pathogenic	759877008	RCV000233245\|RCV001256557;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871683	89871683	NC_000016.9:g.89871683C>A	ClinGen:CA10583443	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.709+5G>A	2175	FANCA	Pathogenic/Likely pathogenic	759877008	RCV000474895\|RCV000673202\|RCV001821265;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89871683	89871683	NC_000016.9:g.89871683C>T	ClinGen:CA8252848,LOVD 3:FANCA_000046,OMIM:607139.0012	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.709+2T>C	2175	FANCA	Pathogenic/Likely pathogenic	1555571116	RCV000670112\|RCV000786794\|RCV001868239;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89871686	89871686	NC_000016.9:g.89871686A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.709+1G>A	2175	FANCA	Pathogenic	753211631	RCV001256556\|RCV001879798;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89871687	89871687	16:g.89871687C>T	-
NC_000016.10:g.(89805279_89805393)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256320;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871687	89883065	-1	-
NM_000135.4(FANCA):c.284-1328_705del	2175	FANCA	Pathogenic	-1	RCV001054571\|RCV001256327;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871692	89878807	16:g.89871692_89871790del	-
NM_000135.4(FANCA):c.701T>C (p.Met234Thr)	2175	FANCA	Uncertain significance	145869646	RCV000794893\|RCV001117077\|RCV003413593;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89871696	89871696	16:g.89871696A>G	-
NM_000135.4(FANCA):c.700A>G (p.Met234Val)	2175	FANCA	Uncertain significance	1042676101	RCV000811308\|RCV002495124;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871697	89871697	16:g.89871697T>C	-
NM_000135.4(FANCA):c.695G>A (p.Arg232Lys)	2175	FANCA	Conflicting interpretations of pathogenicity	886052487	RCV000989673\|RCV002521077;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89871702	89871702	16:g.89871702C>T	ClinGen:CA10638691	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.694A>C (p.Arg232=)	2175	FANCA	Conflicting interpretations of pathogenicity	61757384	RCV000229339\|RCV001117078\|RCV001532335\|RCV002478833;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374	16	89871703	89871703	16:g.89871703T>G	ClinGen:CA8252854	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.691G>A (p.Ala231Thr)	2175	FANCA	Uncertain significance	746814384	RCV000554795\|RCV002476092;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871706	89871706	16:g.89871706C>T	ClinGen:CA397477766	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.691G>T (p.Ala231Ser)	2175	FANCA	Uncertain significance	746814384	RCV001057015\|RCV001276564\|RCV001509538;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89871706	89871706	16:g.89871706C>A	-
NM_000135.4(FANCA):c.688G>A (p.Val230Ile)	2175	FANCA	Conflicting interpretations of pathogenicity	144560850	RCV000274943\|RCV001094307\|RCV001820959;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374	16	89871709	89871709	NC_000016.9:g.89871709C>T	ClinGen:CA8252857	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.685G>A (p.Asp229Asn)	2175	FANCA	Conflicting interpretations of pathogenicity	148419748	RCV000468822\|RCV002496761;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871712	89871712	NC_000016.9:g.89871712C>T	ClinGen:CA8252858	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.683C>G (p.Ala228Gly)	2175	FANCA	Pathogenic	1354884515	RCV001256555;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871714	89871714	16:g.89871714G>C	-
NM_000135.4(FANCA):c.679C>G (p.His227Asp)	2175	FANCA	Uncertain significance	142580507	RCV000120963\|RCV000692440\|RCV001274655\|RCV003415913;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89871718	89871718	16:g.89871718G>C	ClinGen:CA159370	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.676C>G (p.Gln226Glu)	2175	FANCA	Uncertain significance	1598177148	RCV000816195\|RCV002495156;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871721	89871721	16:g.89871721G>C	-
NM_000135.4(FANCA):c.661A>G (p.Met221Val)	2175	FANCA	Uncertain significance	150924963	RCV000463486\|RCV001274656\|RCV002269275;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89871736	89871736	NC_000016.9:g.89871736T>C	ClinGen:CA8252863	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.658C>T (p.Gln220Ter)	2175	FANCA	Likely pathogenic	775697743	RCV001264171;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871739	89871739	16:g.89871739G>A	-
NM_000135.4(FANCA):c.634A>C (p.Arg212=)	2175	FANCA	Likely benign	754839730	RCV000867876\|RCV001276565;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871763	89871763	16:g.89871763T>G	-
NM_000135.4(FANCA):c.629T>G (p.Leu210Arg)	2175	FANCA	Pathogenic	2040601073	RCV001256554;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871768	89871768	16:g.89871768A>C	-
NM_000135.4(FANCA):c.627G>A (p.Trp209Ter)	2175	FANCA	Pathogenic	-1	RCV003460172;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871770	89871770		-
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	144420697	RCV000120962\|RCV000461615\|RCV000664733;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871774	89871774	16:g.89871774G>A	ClinGen:CA159367	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.610C>G (p.His204Asp)	2175	FANCA	Uncertain significance	749380996	RCV001117079;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871787	89871787	16:g.89871787G>C	-
NM_000135.4(FANCA):c.601C>T (p.Pro201Ser)	2175	FANCA	Benign/Likely benign	144917960	RCV000330085\|RCV001094308\|RCV001820960\|RCV001706516;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	16	89871796	89871796	NC_000016.9:g.89871796G>A	ClinGen:CA8252882	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.597-1G>C	2175	FANCA	Pathogenic/Likely pathogenic	147945881	RCV000670450\|RCV001242661;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89871801	89871801	16:g.89871801C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.(89805393_89808293)_(89808368_89810706)del	2175	FANCA	Uncertain significance	-1	RCV001256448;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871801	89877114	-1	-
NC_000016.10:g.(89805393_89808293)_(89814614_89815876)del	2175	FANCA	Pathogenic	-1	RCV001256214;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871801	89882284	-1	-
NC_000016.10:g.(89805393_89808293)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256319;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871801	89883065	-1	-
NM_000135.4(FANCA):c.597-2A>G	2175	FANCA	Pathogenic	2040602804	RCV001256545;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89871802	89871802	16:g.89871802T>C	-
NM_000135.4(FANCA):c.190-494_597-592del	2175	FANCA	Pathogenic	-1	RCV001256209;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89872392	89881515	16:g.89872392_89872490del	-
NM_000135.2(FANCA):c.(?_-42)_597-800del	2175	FANCA	Pathogenic	-1	RCV001256318;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89872600	89883065	-1	-
NC_000016.10:g.89807755_89816658del	2175	FANCA	Pathogenic	-1	RCV001256317;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874161	89883064		-
GRCh37/hg19 16q24.3(chr16:89874496-89888566)x1	2175	FANCA	not provided	-1	RCV001825199;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874496	89888566	-1	-
NM_000135.4(FANCA):c.596+143T>G	2175	FANCA	Benign	11076627	RCV001537726\|RCV001692460;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89874559	89874559	89874559	-
NM_000135.4(FANCA):c.596+74G>A	2175	FANCA	Benign	1800285	RCV001537727\|RCV001647379;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89874628	89874628	89874628	-
NM_000135.4(FANCA):c.596+2T>C	2175	FANCA	Likely pathogenic	1555573118	RCV000674412\|RCV001861842;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89874700	89874700	16:g.89874700A>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.596G>C (p.Ser199Thr)	2175	FANCA	Pathogenic	764157478	RCV001256543;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874702	89874702	16:g.89874702C>G	-
NM_000135.4(FANCA):c.590T>C (p.Leu197Pro)	2175	FANCA	Uncertain significance	886052488	RCV000375388;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874708	89874708	NC_000016.9:g.89874708A>G	ClinGen:CA10644647	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.582A>G (p.Gln194=)	2175	FANCA	Likely benign	748517164	RCV000878077\|RCV001276566;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874716	89874716	16:g.89874716T>C	-
NM_000135.4(FANCA):c.580C>T (p.Gln194Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1384166265	RCV001783244\|RCV002544245;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89874718	89874718	89874718	-
NM_000135.4(FANCA):c.577C>G (p.Leu193Val)	2175	FANCA	Conflicting interpretations of pathogenicity	141861208	RCV000280680\|RCV000660417\|RCV001753780;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89874721	89874721	NC_000016.9:g.89874721G>C	ClinGen:CA8252926	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.560_561insGAGT (p.Gln188fs)	2175	FANCA	Pathogenic	2143657184	RCV001535993;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874737	89874738	89874737	-
NM_000135.4(FANCA):c.559G>A (p.Val187Ile)	2175	FANCA	Uncertain significance	761538996	RCV000513985\|RCV000810282\|RCV002481659;	N	MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874739	89874739	NC_000016.9:g.89874739C>T	ClinGen:CA8252933	CN517202 not provided;
NM_000135.4(FANCA):c.558C>G (p.His186Gln)	2175	FANCA	Uncertain significance	149159377	RCV001300970\|RCV002499559;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874740	89874740	89874740	-
NM_000135.4(FANCA):c.558C>T (p.His186=)	2175	FANCA	Likely benign	149159377	RCV001405201\|RCV002488220;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874740	89874740	89874740	-
NM_000135.4(FANCA):c.553C>A (p.Leu185Ile)	2175	FANCA	Conflicting interpretations of pathogenicity	587778323	RCV000120961\|RCV000672751\|RCV002055335;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89874745	89874745	16:g.89874745G>T	ClinGen:CA159364	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.549G>A (p.Trp183Ter)	2175	FANCA	Pathogenic	758528624	RCV000669575\|RCV001584542;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89874749	89874749	16:g.89874749C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.549G>T (p.Trp183Cys)	2175	FANCA	Uncertain significance	758528624	RCV001761680\|RCV002544200\|RCV003238553;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89874749	89874749	89874749	-
NM_000135.4(FANCA):c.543G>A (p.Ala181=)	2175	FANCA	Likely benign	143314367	RCV000524853\|RCV002506291;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874755	89874755	16:g.89874755C>T	ClinGen:CA8252939	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.542C>T (p.Ala181Val)	2175	FANCA	Benign/Likely benign	17232246	RCV000120960\|RCV000317320\|RCV001094363\|RCV001618286;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89874756	89874756	16:g.89874756G>A	ClinGen:CA159362,UniProtKB:O15360#VAR_009639	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.542C>A (p.Ala181Glu)	2175	FANCA	Uncertain significance	17232246	RCV000989674;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874756	89874756	16:g.89874756G>T	-
NM_000135.4(FANCA):c.539_540dup (p.Ala181fs)	2175	FANCA	Likely pathogenic	-1	RCV003468114;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874757	89874758		-
NM_000135.4(FANCA):c.527C>T (p.Ser176Phe)	2175	FANCA	Conflicting interpretations of pathogenicity	35566151	RCV000551260\|RCV001118712;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874771	89874771	NC_000016.9:g.89874771G>A	ClinGen:CA8252945	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.527C>G (p.Ser176Cys)	2175	FANCA	Uncertain significance	35566151	RCV001876702\|RCV003154045;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874771	89874771	89874771	-
NM_000135.4(FANCA):c.523-1G>T	2175	FANCA	Likely pathogenic	1477653630	RCV000666294\|RCV001379949\|RCV003151132;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	16	89874776	89874776	16:g.89874776C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.(89808368_89810706)_(89810803_89810928)del	2175	FANCA	Pathogenic	-1	RCV001256441;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874776	89877336	-1	-
NC_000016.10:g.(89808368_89810706)_(89811072_89814519)del	2175	FANCA	Pathogenic	-1	RCV001256331;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874776	89880927	-1	-
NC_000016.10:g.(89808368_89810706)_(89815987_89816536)del	2175	FANCA	Pathogenic	-1	RCV001256535;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874776	89882944	-1	-
NC_000016.10:g.(89808368_89810706)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256316;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874776	89883065	-1	-
NM_000135.4(FANCA):c.523-2A>G	2175	FANCA	Likely pathogenic	746518509	RCV000671161\|RCV001379453;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89874777	89874777	16:g.89874777T>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.523-37TTGTTT[2]	2175	FANCA	Likely benign	530849202	RCV002097355\|RCV002498316;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89874795	89874800	89874794	-
NM_000135.2(FANCA):c.(?_-42)_523-663del	2175	FANCA	Pathogenic	-1	RCV001256315;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89875438	89883065	NC_000016.9:g.89875438_89883065del	-
NM_000135.2(FANCA):c.(?_-42)_523-818del	2175	FANCA	Pathogenic	-1	RCV001256314;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89875592	89883064	NC_000016.9:g.89875593_89883065del	-
NM_000135.2(FANCA):c.(?_-42)_523-828del	2175	FANCA	Pathogenic	-1	RCV001256313;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89875603	89883065	NC_000016.9:g.89875603_89883065del	-
NM_000135.4(FANCA):c.522+2T>G	2175	FANCA	Likely pathogenic	-1	RCV003460159;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877113	89877113		-
NM_000135.4(FANCA):c.522+1G>T	2175	FANCA	Likely pathogenic	1365019056	RCV000674016;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877114	89877114	16:g.89877114C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.285_522+1del	2175	FANCA	Pathogenic	2040843894	RCV001256330;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877114	89877478	16:g.89877114_89877212del	-
NM_000135.4(FANCA):c.520C>T (p.Gln174Ter)	2175	FANCA	Likely pathogenic	1454055874	RCV001264172;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877117	89877117	16:g.89877117G>A	-
NM_000135.4(FANCA):c.515A>G (p.Lys172Arg)	2175	FANCA	Uncertain significance	2040844359	RCV001323483\|RCV002476521;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877122	89877122	89877122	-
NM_000135.4(FANCA):c.513dup (p.Lys172fs)	2175	FANCA	Likely pathogenic	1555574913	RCV000673358;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877123	89877124	16:g.89877123_89877124insC	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.513G>A (p.Trp171Ter)	2175	FANCA	Pathogenic	121907930	RCV000003616;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877124	89877124	16:g.89877124C>T	ClinGen:CA252781,OMIM:607139.0009	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.505G>A (p.Glu169Lys)	2175	FANCA	Uncertain significance	372691338	RCV001061592\|RCV002489672;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877132	89877132	16:g.89877132C>T	-
NM_000135.4(FANCA):c.505G>T (p.Glu169Ter)	2175	FANCA	Pathogenic	372691338	RCV001256445;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877132	89877132	16:g.89877132C>A	-
NM_000135.4(FANCA):c.505G>C (p.Glu169Gln)	2175	FANCA	Uncertain significance	-1	RCV002942541\|RCV003146690;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877132	89877132	NC_000016.9:g.89877132C>G	-
NM_000135.4(FANCA):c.495del (p.Phe166fs)	2175	FANCA	Pathogenic	2143677288	RCV002254005;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877142	89877142	89877141	-
NM_000135.4(FANCA):c.488G>A (p.Arg163His)	2175	FANCA	Uncertain significance	375648811	RCV001241391\|RCV002491804;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877149	89877149	16:g.89877149C>T	-
NM_000135.4(FANCA):c.487C>T (p.Arg163Cys)	2175	FANCA	Uncertain significance	747651383	RCV001050935\|RCV001274659\|RCV001772256;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89877150	89877150	16:g.89877150G>A	-
NM_000135.4(FANCA):c.487del (p.Arg163fs)	2175	FANCA	Pathogenic	2040845588	RCV001256444;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877150	89877150	16:g.89877150_89877150del	-
NM_000135.4(FANCA):c.483C>T (p.Phe161=)	2175	FANCA	Likely benign	769389376	RCV001445212\|RCV003416340\|RCV002501566;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877154	89877154	89877154	-
NM_000135.4(FANCA):c.470C>T (p.Ala157Val)	2175	FANCA	Pathogenic	1251792942	RCV001256443;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877167	89877167	16:g.89877167G>A	-
NM_000135.4(FANCA):c.467T>A (p.Leu156Ter)	2175	FANCA	Likely pathogenic	1419169954	RCV001264173;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877170	89877170	16:g.89877170A>T	-
NM_000135.4(FANCA):c.457C>G (p.Gln153Glu)	2175	FANCA	Conflicting interpretations of pathogenicity	774448881	RCV000672567\|RCV002531318;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89877180	89877180	16:g.89877180G>C	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.449_450del (p.Glu150fs)	2175	FANCA	Likely pathogenic	-1	RCV003468104;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877187	89877188		-
NM_000135.4(FANCA):c.448G>T (p.Glu150Ter)	2175	FANCA	Pathogenic	947111024	RCV001256442;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877189	89877189	16:g.89877189C>A	-
NM_000135.4(FANCA):c.445T>G (p.Leu149Val)	2175	FANCA	Uncertain significance	372814783	RCV000630951\|RCV001293972;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877192	89877192	NC_000016.9:g.89877192A>C	ClinGen:CA8252999	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.437C>G (p.Ser146Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	141367100	RCV001050638\|RCV001331009\|RCV002479313;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89877200	89877200	16:g.89877200G>C	-
NM_000135.4(FANCA):c.427A>T (p.Lys143Ter)	2175	FANCA	Pathogenic	539460201	RCV000578451\|RCV001231124;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89877210	89877210	16:g.89877210T>A	ClinGen:CA397480839	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.427-2A>G	2175	FANCA	Likely pathogenic	765684774	RCV001256440\|RCV001879791;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89877212	89877212	16:g.89877212T>C	-
NM_000135.4(FANCA):c.427-8_427-5del	2175	FANCA	Pathogenic	2040847430	RCV001256439;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877215	89877218	16:g.89877215_89877218del	-
NM_000135.4(FANCA):c.427-25T>A	2175	FANCA	Benign	9282685	RCV000246822\|RCV001598633\|RCV003316339;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877235	89877235	NC_000016.9:g.89877235A>T	ClinGen:CA8253013	CN169374 not specified;
NM_000135.4(FANCA):c.426+13C>T	2175	FANCA	Likely benign	755598667	RCV002212857\|RCV002498226;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877324	89877324	89877324	-
NM_000135.4(FANCA):c.426+2T>G	2175	FANCA	Likely pathogenic	1598190568	RCV000801912\|RCV001256438;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877335	89877335	16:g.89877335A>C	-
NM_000135.4(FANCA):c.426+1G>A	2175	FANCA	Pathogenic/Likely pathogenic	1343463467	RCV001379431\|RCV001780295;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877336	89877336	89877336	-
NM_000135.4(FANCA):c.424A>T (p.Arg142Ter)	2175	FANCA	Pathogenic/Likely pathogenic	2040853392	RCV001256339;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877339	89877339	16:g.89877339T>A	-
NM_000135.4(FANCA):c.416_417del (p.Val139fs)	2175	FANCA	Pathogenic	864622188	RCV000205897\|RCV001256338;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877346	89877347	16:g.89877346_89877347del	ClinGen:CA349999	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.401dup (p.Val135fs)	2175	FANCA	Pathogenic/Likely pathogenic	1555575253	RCV000674321\|RCV001037066;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89877361	89877362	16:g.89877361_89877362insG	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.402T>C (p.Pro134=)	2175	FANCA	Conflicting interpretations of pathogenicity	745666586	RCV000874197\|RCV001118713;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877361	89877361	16:g.89877361A>G	-
NM_000135.4(FANCA):c.399C>T (p.His133=)	2175	FANCA	Benign/Likely benign	56190097	RCV000560795\|RCV002497051;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877364	89877364	16:g.89877364G>A	ClinGen:CA8253036	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.396dup (p.His133fs)	2175	FANCA	Pathogenic	2040855193	RCV001256337;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877366	89877367	16:g.89877366_89877367insA	-
NM_000135.4(FANCA):c.396T>G (p.Ser132Arg)	2175	FANCA	Uncertain significance	1272640964	RCV001221776\|RCV002504280;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877367	89877367	16:g.89877367A>C	-
NM_000135.4(FANCA):c.386C>T (p.Ala129Val)	2175	FANCA	Conflicting interpretations of pathogenicity	577625130	RCV000371929\|RCV002522902;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89877377	89877377	NC_000016.9:g.89877377G>A	ClinGen:CA8253042	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	139160837	RCV000466659\|RCV000503748\|RCV001172102\|RCV001118714;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877386	89877386	NC_000016.9:g.89877386G>C	ClinGen:CA8253047	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.377C>T (p.Thr126Met)	2175	FANCA	Conflicting interpretations of pathogenicity	139160837	RCV000464585\|RCV001276567\|RCV002264943\|RCV002526413;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MeSH:D030342,MedGen:C0950123	16	89877386	89877386	NC_000016.9:g.89877386G>A	ClinGen:CA8253048	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.367C>T (p.Gln123Ter)	2175	FANCA	Pathogenic	-1	RCV002287060\|RCV003097710\|RCV003464436;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877396	89877396	89877396	-
NM_000135.4(FANCA):c.364G>T (p.Gly122Ter)	2175	FANCA	Likely pathogenic	2040857662	RCV001264174;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877399	89877399	16:g.89877399C>A	-
NM_000135.4(FANCA):c.356C>G (p.Ser119Cys)	2175	FANCA	Conflicting interpretations of pathogenicity	751309143	RCV000286700\|RCV001094364\|RCV002522903;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	16	89877407	89877407	NC_000016.9:g.89877407G>C	ClinGen:CA8253054	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.353C>T (p.Ala118Val)	2175	FANCA	Uncertain significance	1201642328	RCV000804007\|RCV001274660;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877410	89877410	16:g.89877410G>A	-
NM_000135.4(FANCA):c.344G>A (p.Gly115Glu)	2175	FANCA	Uncertain significance	748263867	RCV001068715\|RCV002482122;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877419	89877419	16:g.89877419C>T	-
NM_000135.4(FANCA):c.343G>A (p.Gly115Arg)	2175	FANCA	Uncertain significance	769824282	RCV000668215\|RCV001246549;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89877420	89877420	16:g.89877420C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.342C>T (p.Ala114=)	2175	FANCA	Likely benign	777989691	RCV000502474\|RCV000867878\|RCV003316647;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877421	89877421	NC_000016.9:g.89877421G>A	ClinGen:CA8253059	CN169374 not specified;
NM_000135.4(FANCA):c.338C>T (p.Ser113Leu)	2175	FANCA	Uncertain significance	149903404	RCV001235766\|RCV001760248\|RCV003238327;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89877425	89877425	16:g.89877425G>A	-
NM_000135.4(FANCA):c.331_334dup (p.Leu112fs)	2175	FANCA	Pathogenic	2040859131	RCV001256336;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877428	89877429	16:g.89877428_89877429insGAAT	-
NM_000135.4(FANCA):c.317G>C (p.Gly106Ala)	2175	FANCA	Uncertain significance	764893807	RCV000547916\|RCV000764092;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877446	89877446	NC_000016.9:g.89877446C>G	ClinGen:CA8253067	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.308C>T (p.Ser103Leu)	2175	FANCA	Conflicting interpretations of pathogenicity	147176389	RCV000120950\|RCV000537860\|RCV003144133;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877455	89877455	16:g.89877455G>A	ClinGen:CA159334	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.308C>G (p.Ser103Ter)	2175	FANCA	Likely pathogenic	147176389	RCV001264295;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877455	89877455	16:g.89877455G>C	-
NM_000135.4(FANCA):c.306del (p.Ser103fs)	2175	FANCA	Likely pathogenic	-1	RCV003460171;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877457	89877457		-
NM_000135.4(FANCA):c.301C>T (p.Gln101Ter)	2175	FANCA	Likely pathogenic	-1	RCV002306662;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877462	89877462	89877462	-
NM_000135.4(FANCA):c.295C>T (p.Gln99Ter)	2175	FANCA	Pathogenic	1057516430	RCV000409455\|RCV001865263\|RCV003126717;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	16	89877468	89877468	NC_000016.9:g.89877468G>A	ClinGen:CA16041804	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.294G>T (p.Leu98Phe)	2175	FANCA	Uncertain significance	751380220	RCV001864191\|RCV002489984;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877469	89877469	89877469	-
NM_000135.2(FANCA):c.284del	2175	FANCA	Pathogenic	2040861554	RCV001256329;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877479	89877479	16:g.89877479_89877479del	-
NC_000016.10:g.(89811072_89814519)_(89814614_89815876)del	2175	FANCA	Pathogenic	-1	RCV001256213;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877480	89882284	-1	-
NM_000135.4(FANCA):c.284-2A>C	2175	FANCA	Likely pathogenic	-1	RCV003051001\|RCV003340603;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877481	89877481	NC_000016.9:g.89877481T>G	-
NM_000135.4(FANCA):c.284-9G>C	2175	FANCA	Uncertain significance	367672895	RCV000341755;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89877488	89877488	NC_000016.9:g.89877488C>G	ClinGen:CA10644649	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.190-146_284-1082del	2175	FANCA	Pathogenic	-1	RCV001256210;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89878561	89881167	16:g.89878561_89878659del	-
NM_000135.4(FANCA):c.283+3A>C	2175	FANCA	Pathogenic	786204204	RCV000168293\|RCV001256326;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880925	89880925	NC_000016.9:g.89880925T>G	ClinGen:CA334564	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.283+2T>C	2175	FANCA	Pathogenic	-1	RCV003460150;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880926	89880926		-
NM_000135.4(FANCA):c.283+1G>T	2175	FANCA	Pathogenic/Likely pathogenic	1232171121	RCV000671233\|RCV000806911;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89880927	89880927	NC_000016.9:g.89880927C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.283+1del	2175	FANCA	Pathogenic	2041024132	RCV001256220;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880927	89880927	16:g.89880927_89880927del	-
NM_000135.4(FANCA):c.283+1G>A	2175	FANCA	Pathogenic/Likely pathogenic	1232171121	RCV001906162\|RCV003464213;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880927	89880927	89880927	-
NM_000135.4(FANCA):c.275C>G (p.Ser92Ter)	2175	FANCA	Pathogenic	1183559927	RCV000989675;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880936	89880936	16:g.89880936G>C	-
NM_000135.4(FANCA):c.275C>A (p.Ser92Ter)	2175	FANCA	Likely pathogenic	1183559927	RCV001256219;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880936	89880936	16:g.89880936G>T	-
NM_000135.4(FANCA):c.260C>G (p.Ala87Gly)	2175	FANCA	Uncertain significance	758619078	RCV001216473\|RCV002497738\|RCV002480713;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89880951	89880951	16:g.89880951G>C	-
NM_000135.4(FANCA):c.258T>A (p.Tyr86Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1452688134	RCV000799851\|RCV001256218;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880953	89880953	16:g.89880953A>T	-
NM_000135.4(FANCA):c.240_241del (p.Cys80_Asp81delinsTer)	2175	FANCA	Pathogenic/Likely pathogenic	1363946483	RCV001255874;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880970	89880971	89880969	-
NM_000135.4(FANCA):c.236_239del (p.Asp79fs)	2175	FANCA	Pathogenic	1336033143	RCV000989676\|RCV001381596;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89880972	89880975	16:g.89880972_89880975del	-
NM_000135.4(FANCA):c.238del (p.Cys80fs)	2175	FANCA	Pathogenic	864622187	RCV000204795\|RCV001256217\|RCV002269263;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89880973	89880973	16:g.89880973_89880973del	ClinGen:CA348990	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.233_236del (p.Ile78fs)	2175	FANCA	Pathogenic	2041026343	RCV001256216\|RCV001879785;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89880975	89880978	16:g.89880975_89880978del	-
NM_000135.4(FANCA):c.226A>T (p.Lys76Ter)	2175	FANCA	Likely pathogenic	-1	RCV003460169;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880985	89880985		-
NM_000135.4(FANCA):c.220C>G (p.Leu74Val)	2175	FANCA	Uncertain significance	770294560	RCV001819342\|RCV001869686\|RCV002489875;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89880991	89880991	89880991	-
NM_000135.4(FANCA):c.206_207del (p.Leu68_Cys69insTer)	2175	FANCA	Pathogenic	2143711627	RCV001783243;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89881004	89881005	89881003	-
NM_000135.4(FANCA):c.207T>C (p.Cys69=)	2175	FANCA	Likely benign	941660593	RCV002145848\|RCV002494452;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89881004	89881004	89881004	-
NM_000135.4(FANCA):c.200C>A (p.Pro67Gln)	2175	FANCA	Conflicting interpretations of pathogenicity	200698961	RCV000791641\|RCV001759486\|RCV001274662;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89881011	89881011	16:g.89881011G>T	-
NM_000135.4(FANCA):c.190-1G>T	2175	FANCA	Pathogenic/Likely pathogenic	765277254	RCV000664959\|RCV001855434;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89881022	89881022	16:g.89881022C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.190-1G>C	2175	FANCA	Pathogenic	765277254	RCV001256212;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89881022	89881022	16:g.89881022C>G	-
NC_000016.10:g.(89814614_89815876)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256312;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89881022	89883065	-1	-
NM_000135.4(FANCA):c.190-2A>T	2175	FANCA	Pathogenic/Likely pathogenic	183350210	RCV000670932\|RCV001256211\|RCV001868249;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89881023	89881023	16:g.89881023T>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.189+7G>A	2175	FANCA	Conflicting interpretations of pathogenicity	369985388	RCV000631007\|RCV001120657;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882278	89882278	16:g.89882278C>T	ClinGen:CA8253148	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.189+2T>A	2175	FANCA	Likely pathogenic	2041094594	RCV001256542\|RCV001879797;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882283	89882283	16:g.89882283A>T	-
NM_000135.4(FANCA):c.189+1G>A	2175	FANCA	Likely pathogenic	891323617	RCV000674205\|RCV001377209\|RCV000996416;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89882284	89882284	16:g.89882284C>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.189+1G>T	2175	FANCA	Likely pathogenic	891323617	RCV001330798\|RCV001376795;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882284	89882284	89882284	-
NM_000135.4(FANCA):c.187G>T (p.Glu63Ter)	2175	FANCA	Pathogenic/Likely pathogenic	-1	RCV002583539\|RCV003465785;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882287	89882287	NC_000016.9:g.89882287C>A	-
NM_000135.4(FANCA):c.182_184delinsGG (p.Leu61fs)	2175	FANCA	Pathogenic	-1	RCV003468098;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882290	89882292		-
NM_000135.4(FANCA):c.182_183insC (p.Leu61fs)	2175	FANCA	Pathogenic/Likely pathogenic	2041095238	RCV001228384\|RCV003462779;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882291	89882292	16:g.89882291_89882292insG	-
NM_000135.4(FANCA):c.178C>T (p.Leu60Phe)	2175	FANCA	Uncertain significance	1060501885	RCV000470873\|RCV001274663;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882296	89882296	NC_000016.9:g.89882296G>A	ClinGen:CA16615478	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.173dup (p.Asn58fs)	2175	FANCA	Pathogenic	2041095962	RCV001256541;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882300	89882301	16:g.89882300_89882301insT	-
NM_000135.4(FANCA):c.168_173del (p.Leu57_Asn58del)	2175	FANCA	Uncertain significance	1060501881	RCV000459195\|RCV000671841;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882301	89882306	NC_000016.9:g.89882302_89882307del	ClinGen:CA16615051	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.171_172insT (p.Asn58Ter)	2175	FANCA	Pathogenic	2041096125	RCV001256540;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882302	89882303	16:g.89882302_89882303insA	-
NM_000135.4(FANCA):c.163C>T (p.Gln55Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1555580427	RCV000665360\|RCV001387347;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882311	89882311	16:g.89882311G>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.155_161del (p.Arg52fs)	2175	FANCA	Likely pathogenic	-1	RCV003460156;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882313	89882319		-
NM_000135.4(FANCA):c.157A>C (p.Ser53Arg)	2175	FANCA	Conflicting interpretations of pathogenicity	61757383	RCV000231985\|RCV001092318\|RCV001094448;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882317	89882317	16:g.89882317T>G	ClinGen:CA8253156	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.154C>T (p.Arg52Ter)	2175	FANCA	Pathogenic	773159223	RCV000409456\|RCV001245476;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882320	89882320	NC_000016.9:g.89882320G>A	ClinGen:CA8253157	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.128T>G (p.Leu43Ter)	2175	FANCA	Pathogenic	1158456786	RCV001255877\|RCV001873582;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882346	89882346	16:g.89882346A>C	-
NM_000135.4(FANCA):c.128T>A (p.Leu43Ter)	2175	FANCA	Pathogenic	1158456786	RCV001256539;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882346	89882346	16:g.89882346A>T	-
NM_000135.4(FANCA):c.119C>T (p.Ala40Val)	2175	FANCA	Uncertain significance	563060518	RCV001318609\|RCV002493667;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882355	89882355	89882355	-
NM_000135.4(FANCA):c.116G>A (p.Arg39Lys)	2175	FANCA	Conflicting interpretations of pathogenicity	151089298	RCV000803891\|RCV001276569;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882358	89882358	16:g.89882358C>T	-
NM_000135.4(FANCA):c.115A>C (p.Arg39=)	2175	FANCA	Benign/Likely benign	17232091	RCV000231579\|RCV000245410\|RCV001094449;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882359	89882359	NC_000016.9:g.89882359T>G	ClinGen:CA8253169	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.109C>T (p.Pro37Ser)	2175	FANCA	Uncertain significance	780833865	RCV001905007\|RCV002482523;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882365	89882365	89882365	-
NM_000135.4(FANCA):c.80-99_105del	2175	FANCA	Likely pathogenic	-1	RCV003468101;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882369	89882493		-
NM_000135.4(FANCA):c.105T>A (p.Tyr35Ter)	2175	FANCA	Likely pathogenic	-1	RCV003468103;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882369	89882369		-
NM_000135.4(FANCA):c.100A>T (p.Lys34Ter)	2175	FANCA	Pathogenic	772858764	RCV000668648\|RCV001211107;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882374	89882374	16:g.89882374T>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.97del (p.Glu33fs)	2175	FANCA	Pathogenic	786204238	RCV000168396\|RCV001256538;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882377	89882377	NC_000016.9:g.89882379del	ClinGen:CA334725	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.94del (p.Arg32fs)	2175	FANCA	Likely pathogenic	-1	RCV003468094;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882380	89882380		-
NM_000135.4(FANCA):c.88del (p.Val30fs)	2175	FANCA	Pathogenic	2041101804	RCV001256537;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882386	89882386	16:g.89882386_89882386del	-
NM_000135.4(FANCA):c.87G>A (p.Arg29=)	2175	FANCA	Conflicting interpretations of pathogenicity	760787108	RCV000457883\|RCV001120658;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882387	89882387	NC_000016.9:g.89882387C>T	ClinGen:CA8253181	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.86G>T (p.Arg29Met)	2175	FANCA	Uncertain significance	764561391	RCV000822301\|RCV001274664;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882388	89882388	16:g.89882388C>A	-
NM_000135.4(FANCA):c.83del (p.Gly28fs)	2175	FANCA	Likely pathogenic	-1	RCV003468113;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882391	89882391		-
NM_000135.4(FANCA):c.82G>T (p.Gly28Ter)	2175	FANCA	Pathogenic/Likely pathogenic	2041102320	RCV001264296\|RCV001880078;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882392	89882392	16:g.89882392C>A	-
NM_000135.4(FANCA):c.81G>A (p.Ala27=)	2175	FANCA	Uncertain significance	150247726	RCV000469082\|RCV001764407\|RCV003237863;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	16	89882393	89882393	NC_000016.9:g.89882393C>T	ClinGen:CA8253184	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.80-1G>T	2175	FANCA	Likely pathogenic	751076878	RCV000669616;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882395	89882395	16:g.89882395C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NC_000016.10:g.(89815987_89816536)_(89816657_?)del	2175	FANCA	Pathogenic	-1	RCV001256311;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882395	89883065	-1	-
NM_000135.4(FANCA):c.80-2A>G	2175	FANCA	Likely pathogenic	-1	RCV003460168;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882396	89882396		-
NM_000135.4(FANCA):c.80-8C>G	2175	FANCA	Likely benign	749080227	RCV001276570\|RCV001505763;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882402	89882402	16:g.89882402G>C	-
NM_000135.4(FANCA):c.80-13C>T	2175	FANCA	Conflicting interpretations of pathogenicity	189841793	RCV000122402\|RCV001120659\|RCV001513153\|RCV002055375;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89882407	89882407	16:g.89882407G>A	ClinGen:CA162999	CN169374 not specified;
NM_000135.4(FANCA):c.79+1G>C	2175	FANCA	Likely pathogenic	1483028018	RCV000672909;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882944	89882944	16:g.89882944C>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.76C>G (p.Leu26Val)	2175	FANCA	Uncertain significance	2041137276	RCV001277949;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882948	89882948	16:g.89882948G>C	-
NM_000135.4(FANCA):c.74T>G (p.Leu25Arg)	2175	FANCA	Uncertain significance	886052489	RCV000395518;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882950	89882950	NC_000016.9:g.89882950A>C	ClinGen:CA10648407	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.44_69del (p.Pro15fs)	2175	FANCA	Pathogenic	2041137887	RCV001256532;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882955	89882980	16:g.89882955_89882980del	-
NM_000135.4(FANCA):c.68C>T (p.Ala23Val)	2175	FANCA	Conflicting interpretations of pathogenicity	776297241	RCV001327579\|RCV002504516;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882956	89882956	89882956	-
NM_000135.4(FANCA):c.66G>A (p.Trp22Ter)	2175	FANCA	Pathogenic	2041138210	RCV001256534;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882958	89882958	16:g.89882958C>T	-
NM_000135.4(FANCA):c.65G>A (p.Trp22Ter)	2175	FANCA	Pathogenic/Likely pathogenic	761341952	RCV000665314\|RCV000812393\|RCV001509539;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89882959	89882959	NC_000016.9:g.89882959C>T	-
NM_000135.4(FANCA):c.57G>C (p.Arg19=)	2175	FANCA	Likely benign	930955916	RCV001442434\|RCV002501555;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882967	89882967	89882967	-
NM_000135.4(FANCA):c.55C>T (p.Arg19Trp)	2175	FANCA	Uncertain significance	1300733063	RCV001299597\|RCV001760347\|RCV003238338;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89882969	89882969	89882969	-
NM_000135.4(FANCA):c.50dup (p.Arg18fs)	2175	FANCA	Pathogenic	-1	RCV003136913;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882973	89882974	NC_000016.9:g.89882978dup	-
NM_000135.4(FANCA):c.50del (p.Gly17fs)	2175	FANCA	Pathogenic	748624754	RCV001256533\|RCV001879796;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882974	89882974	16:g.89882974_89882974del	-
NM_000135.4(FANCA):c.46G>C (p.Gly16Arg)	2175	FANCA	Uncertain significance	943773590	RCV000461194\|RCV002489041;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882978	89882978	NC_000016.9:g.89882978C>G	ClinGen:CA16615039	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.41A>G (p.Asp14Gly)	2175	FANCA	Conflicting interpretations of pathogenicity	762648754	RCV000233505\|RCV000665027\|RCV001770188\|RCV001818561;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MedGen:CN169374	16	89882983	89882983	NC_000016.9:g.89882983T>C	ClinGen:CA8253266	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.38A>G (p.Gln13Arg)	2175	FANCA	Uncertain significance	1264855885	RCV001323317\|RCV002493689;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882986	89882986	89882986	-
NM_000135.4(FANCA):c.16_36dup (p.Val6_Gly12dup)	2175	FANCA	Uncertain significance	1555581601	RCV000673747;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882987	89882988	16:g.89882987_89882988insGCCCGAGGCGGAGTTCGGGAC	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.32del (p.Ser11fs)	2175	FANCA	Likely pathogenic	-1	RCV003460160;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882992	89882992		-
NM_000135.4(FANCA):c.28G>A (p.Ala10Thr)	2175	FANCA	Uncertain significance	965036018	RCV000803976\|RCV001120660;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89882996	89882996	16:g.89882996C>T	-
NM_000135.4(FANCA):c.26C>T (p.Ser9Phe)	2175	FANCA	Uncertain significance	752776388	RCV001247242\|RCV003387442\|RCV003426014;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|	16	89882998	89882998	16:g.89882998G>A	-
NM_000135.4(FANCA):c.25_26delinsCT (p.Ser9Leu)	2175	FANCA	Uncertain significance	2143731757	RCV002254864\|RCV003094180;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89882998	89882999	89882998	-
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys)	2175	FANCA	Benign	76275444	RCV000120909\|RCV000371007\|RCV001094268\|RCV001709492;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89883000	89883000	16:g.89883000G>C	ClinGen:CA159223,UniProtKB:O15360#VAR_009638	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.21G>T (p.Pro7=)	2175	FANCA	Benign	115856189	RCV000395504\|RCV000502149\|RCV001094269;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883003	89883003	NC_000016.9:g.89883003C>A	ClinGen:CA8253276	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.20C>A (p.Pro7Gln)	2175	FANCA	Uncertain significance	772712346	RCV001354987\|RCV002493817\|RCV002547601;	N	MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89883004	89883004	89883004	-
NM_000135.4(FANCA):c.19C>T (p.Pro7Ser)	2175	FANCA	Conflicting interpretations of pathogenicity	780667753	RCV001304743\|RCV002504460;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883005	89883005	89883005	-
NM_000135.4(FANCA):c.18C>G (p.Val6=)	2175	FANCA	Uncertain significance	916719756	RCV001115737;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883006	89883006	16:g.89883006G>C	-
NM_000135.4(FANCA):c.17T>A (p.Val6Asp)	2175	FANCA	Benign	1800282	RCV000120910\|RCV000312371\|RCV001094270\|RCV001705883;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89883007	89883007	16:g.89883007A>T	ClinGen:CA159226,UniProtKB:O15360#VAR_009637	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.16dup (p.Val6fs)	2175	FANCA	Likely pathogenic	-1	RCV003460167;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883007	89883008		-
NM_000135.4(FANCA):c.15G>A (p.Trp5Ter)	2175	FANCA	Pathogenic	-1	RCV003460148;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883009	89883009		-
NM_000135.4(FANCA):c.14G>A (p.Trp5Ter)	2175	FANCA	Pathogenic	2041143697	RCV001256437;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883010	89883010	16:g.89883010C>T	-
NM_000135.4(FANCA):c.12G>C (p.Ser4=)	2175	FANCA	Likely benign	1009539881	RCV001271635\|RCV001400959;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89883012	89883012	16:g.89883012C>G	-
NM_000135.4(FANCA):c.11C>A (p.Ser4Ter)	2175	FANCA	Pathogenic/Likely pathogenic	1484087361	RCV000666866\|RCV001387348;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89883013	89883013	16:g.89883013G>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.6C>G (p.Ser2=)	2175	FANCA	Likely benign	982258436	RCV001476077\|RCV002503120;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883018	89883018	16:g.89883018G>C	-
NM_000135.4(FANCA):c.3G>T (p.Met1Ile)	2175	FANCA	Conflicting interpretations of pathogenicity	1555581729	RCV000671694;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883021	89883021	16:g.89883021C>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2T>C (p.Met1Thr)	2175	FANCA	Pathogenic	769479800	RCV000669920\|RCV000699054\|RCV001509540;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89883022	89883022	16:g.89883022A>G	-	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.2T>A (p.Met1Lys)	2175	FANCA	Pathogenic/Likely pathogenic	769479800	RCV000672220;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883022	89883022	16:g.89883022A>T	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.2T>G (p.Met1Arg)	2175	FANCA	Pathogenic	769479800	RCV001202859\|RCV001256436;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883022	89883022	16:g.89883022A>C	-
NM_000135.4(FANCA):c.1A>G (p.Met1Val)	2175	FANCA	Pathogenic	772751654	RCV000500370\|RCV001383377;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89883023	89883023	16:g.89883023T>C	ClinGen:CA397484679	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1A>T (p.Met1Leu)	2175	FANCA	Pathogenic/Likely pathogenic	772751654	RCV000669511\|RCV001387726;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89883023	89883023	16:g.89883023T>A	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.1A>C (p.Met1Leu)	2175	FANCA	Pathogenic	772751654	RCV000668991\|RCV001861771;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	89883023	89883023	16:g.89883023T>G	-	C3469521 227650 Fanconi anemia, complementation group A;
NM_000135.4(FANCA):c.-18G>A	2175	FANCA	Conflicting interpretations of pathogenicity	886038245	RCV000253915\|RCV000367041;	N	MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883041	89883041	NC_000016.9:g.89883041C>T	ClinGen:CA10587256	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.-28C>G	2175	FANCA	Uncertain significance	886052490	RCV000263016;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	89883051	89883051	NC_000016.9:g.89883051G>C	ClinGen:CA10649324	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.3782TCT[2] (p.Phe1263del)	-1	FANCA;ZNF276	Pathogenic	397507553	RCV000033896\|RCV000120945\|RCV000231918\|RCV000485336;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	16	89807250	89807252	16:g.89807250_89807252del	ClinGen:CA159322,OMIM:607139.0014	C0015625 Fanconi anemia;
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser)	2187	FANCB	Conflicting interpretations of pathogenicity	142959373	RCV000292661\|RCV000375315\|RCV000437503\|RCV000720996\|RCV000990470\|RCV001080424\|RCV001269483\|RCV001726070;	N	MONDO:MONDO:0010351,MedGen:C1845292,OMIM:300514, Orphanet:84\|MONDO:MONDO:0010752,MedGen:C2931228,OMIM:314390, Orphanet:3412\|MedGen:C3661900\|MedGen:C2711754\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen	X	14863136	14863136	X:g.14863136A>G	ClinGen:CA10353003	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys)	2176	FANCC	Uncertain significance	1588008066	RCV000988192;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	97864041	97864041	9:g.97864041C>T	-
NM_000136.3(FANCC):c.1534-18C>T	2176	FANCC	Benign/Likely benign	1289718209	RCV000988193\|RCV001712842\|RCV002549704\|RCV002488078;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864150	97864150	9:g.97864150G>A	-
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser)	2176	FANCC	Uncertain significance	1564641164	RCV000709078\|RCV000988194\|RCV003303200;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97869386	97869386	9:g.97869386G>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)	2176	FANCC	Uncertain significance	149917017	RCV000487102\|RCV000988195\|RCV001011411\|RCV001247526\|RCV001328458\|RCV002481503;	N	MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009213,M	9	97869475	97869475	9:g.97869475G>A	ClinGen:CA5137337	CN169374 not specified;
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	2176	FANCC	Benign/Likely benign	1800368	RCV000120970\|RCV000574575\|RCV000590373\|RCV000988196\|RCV001082312\|RCV001169818\|RCV001357248;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,M	9	97869487	97869487	9:g.97869487T>C	ClinGen:CA159390,UniProtKB:Q00597#VAR_005231	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)	2176	FANCC	Uncertain significance	730881724	RCV000220014\|RCV000456548\|RCV000709081\|RCV000988198\|RCV001011135;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0	9	97869518	97869518	9:g.97869518C>A	ClinGen:CA5137339	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1329+306C>T	2176	FANCC	Benign	185023012	RCV000988199;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	97873439	97873439	9:g.97873439G>A	-
NM_000136.3(FANCC):c.1329+10A>G	2176	FANCC	Likely benign	977427150	RCV000988200\|RCV001438953;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97873735	97873735	9:g.97873735T>C	ClinGen:CA16612808	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1275C>G (p.Leu425=)	2176	FANCC	Likely benign	767126985	RCV000988201\|RCV001394428\|RCV002448612;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873799	97873799	9:g.97873799G>C	ClinGen:CA5137405	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1259C>T (p.Thr420Met)	2176	FANCC	Uncertain significance	779261511	RCV000519962\|RCV001010616\|RCV000988202\|RCV001242520\|RCV002497008;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,O	9	97873815	97873815	9:g.97873815G>A	ClinGen:CA5137411	CN517202 not provided;
NM_000136.3(FANCC):c.1257del (p.Thr420fs)	2176	FANCC	Pathogenic	765551897	RCV000804708\|RCV000988203\|RCV003467405;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873817	97873817	9:g.97873817_97873817del	-
NM_000136.3(FANCC):c.1161C>T (p.Cys387=)	2176	FANCC	Likely benign	548998258	RCV000253445\|RCV000473343\|RCV001010048\|RCV000988204\|RCV001705330\|RCV003316340;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,M	9	97873913	97873913	9:g.97873913G>A	ClinGen:CA5137426	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	2176	FANCC	Conflicting interpretations of pathogenicity	41281202	RCV000120969\|RCV000224016\|RCV000566496\|RCV000709083\|RCV000988205\|RCV001082314;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,Med	9	97873918	97873918	9:g.97873918A>G	ClinGen:CA159387	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1155-29A>G	2176	FANCC	Likely benign	759352163	RCV000988206;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	97873948	97873948	9:g.97873948T>C	-
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)	2176	FANCC	Uncertain significance	759900071	RCV000709084\|RCV000988207\|RCV001017185\|RCV001825407;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orpha	9	97879600	97879600	9:g.97879600G>C	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)	2176	FANCC	Conflicting interpretations of pathogenicity	1588070592	RCV000988208\|RCV001030699\|RCV001064625\|RCV003160115;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672,Orphane	9	97879604	97879604	9:g.97879604G>T	-
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	2176	FANCC	Conflicting interpretations of pathogenicity	1800366	RCV000196771\|RCV000572525\|RCV000709085\|RCV000988209\|RCV001195051\|RCV001818268;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orpha	9	97887430	97887430	9:g.97887430T>C	ClinGen:CA287233,UniProtKB:Q00597#VAR_005229	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.844-10_844-8del	2176	FANCC	Conflicting interpretations of pathogenicity	758617953	RCV000206232\|RCV000670094\|RCV000988210;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	97888871	97888873	9:g.97888871_97888873del	ClinGen:CA350294	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu)	2176	FANCC	Conflicting interpretations of pathogenicity	749230615	RCV000484866\|RCV000709087\|RCV000988211\|RCV001017686\|RCV001243848\|RCV003409651;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMI	9	97897632	97897632	9:g.97897632G>A	ClinGen:CA5137627	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)	2176	FANCC	Conflicting interpretations of pathogenicity	143181565	RCV000160481\|RCV000571755\|RCV000709088\|RCV000988212\|RCV001085038\|RCV001194155\|RCV001355168;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMI	9	97897654	97897654	9:g.97897654C>T	ClinGen:CA299169	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.687-5G>T	2176	FANCC	Likely benign	767811745	RCV000988213;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	97897789	97897789	9:g.97897789C>A	-
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	2176	FANCC	Conflicting interpretations of pathogenicity	1800365	RCV000120978\|RCV000124962\|RCV000179716\|RCV000667368\|RCV000988215\|RCV001083500\|RCV001356570;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,Med	9	97912307	97912307	9:g.97912307T>A	ClinGen:CA247025,UniProtKB:Q00597#VAR_005228	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)	2176	FANCC	Uncertain significance	370346767	RCV000160473\|RCV000470152\|RCV000564307\|RCV000988216\|RCV002492634\|RCV002271426;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,O	9	97912337	97912337	9:g.97912337C>T	ClinGen:CA299145	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.519del (p.Arg173fs)	2176	FANCC	Pathogenic	1564719070	RCV000709091\|RCV000988217;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	97933363	97933363	9:g.97933363_97933363del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	2176	FANCC	Benign/Likely benign	1800362	RCV000120977\|RCV000205371\|RCV000432064\|RCV000575908\|RCV000988218\|RCV001355214\|RCV001095332;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0007254,M	9	97934359	97934359	9:g.97934359C>T	ClinGen:CA159408,UniProtKB:Q00597#VAR_005226	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.345+4AG[2]	2176	FANCC	Conflicting interpretations of pathogenicity	755657969	RCV000487298\|RCV000727370\|RCV000988220\|RCV001080936\|RCV001355201;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002922	98002923	9:g.98002922_98002923del	ClinGen:CA5137775	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.166-5C>T	2176	FANCC	Conflicting interpretations of pathogenicity	753820400	RCV000232327\|RCV000988222\|RCV001012621\|RCV001722206;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	9	98009803	98009803	9:g.98009803G>A	ClinGen:CA5137812	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.166-7T>C	2176	FANCC	Benign/Likely benign	369052148	RCV000205280\|RCV000249999\|RCV000988223\|RCV001651065;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	9	98009805	98009805	9:g.98009805A>G	ClinGen:CA349452	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.166-9C>G	2176	FANCC	Benign/Likely benign	372507085	RCV000871173\|RCV000988224\|RCV001615068\|RCV002501306;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009807	98009807	9:g.98009807G>C	-
NM_000136.3(FANCC):c.165+11G>C	2176	FANCC	Likely benign	1588353233	RCV000988225;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	98011398	98011398	9:g.98011398C>G	-
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)	2176	FANCC	Uncertain significance	374836770	RCV000160495\|RCV000709096\|RCV000988226\|RCV002256090\|RCV002372044;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0	9	98011447	98011447	9:g.98011447C>T	ClinGen:CA299206	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	2176	FANCC	Conflicting interpretations of pathogenicity	1800361	RCV000120974\|RCV000513630\|RCV000573438\|RCV000988227\|RCV001083879\|RCV001168031\|RCV001357504;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,M	9	98011497	98011497	9:g.98011497G>A	ClinGen:CA159399,UniProtKB:Q00597#VAR_005225	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.17T>C (p.Val6Ala)	2176	FANCC	Likely benign	527289778	RCV000988228;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	98011557	98011557	9:g.98011557A>G	-
NM_000136.3(FANCC):c.-79+98A>G	2176	FANCC	Likely benign	1408056644	RCV000988229;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	98079710	98079710	9:g.98079710T>C	-
NM_000136.3(FANCC):c.-87G>A	2176	FANCC	Benign/Likely benign	1051113986	RCV000988230\|RCV001595059;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	9	98079816	98079816	9:g.98079816C>T	-
NC_000003.12:g.(10028722_10032831)_(10049506_10052386)del	2177	FANCD2	Pathogenic	-1	RCV001194914;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	3	10070406	10094070	-1	-
NM_001018115.3(FANCD2):c.182C>T (p.Thr61Met)	2177	FANCD2	Conflicting interpretations of pathogenicity	35110529	RCV000539433\|RCV000987093\|RCV001144633\|RCV001531560\|RCV003151085;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374	3	10074633	10074633	3:g.10074633C>T	ClinGen:CA2249126	C0015625 Fanconi anemia;
NM_001018115.3(FANCD2):c.1118C>T (p.Ser373Leu)	2177	FANCD2	Conflicting interpretations of pathogenicity	372534421	RCV000987094\|RCV001146800\|RCV001858660;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	3	10085532	10085532	3:g.10085532C>T	-
NM_001018115.3(FANCD2):c.1122A>G (p.Val374=)	2177	FANCD2	Benign	34046352	RCV000247209\|RCV000377963\|RCV000987095\|RCV001094848\|RCV001706317\|RCV002225541;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D	3	10085536	10085536	3:g.10085536A>G	ClinGen:CA2249503	C0015625 Fanconi anemia;
NM_001018115.3(FANCD2):c.1135-25G>A	2177	FANCD2	Benign	201770712	RCV000987096;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	3	10088239	10088239	3:g.10088239G>A	-
NM_001018115.3(FANCD2):c.1137G>T (p.Val379=)	2177	FANCD2	Benign	72492997	RCV000347785\|RCV000987097\|RCV001094850\|RCV002225595;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:	3	10088266	10088266	3:g.10088266G>T	ClinGen:CA2249531	C0015625 Fanconi anemia;
NM_001018115.3(FANCD2):c.1143C>T (p.Asp381=)	2177	FANCD2	Likely benign	376349741	RCV000862072\|RCV000987098\|RCV001171829\|RCV001816939\|RCV002507466;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84	3	10088272	10088272	3:g.10088272C>T	-
NM_001018115.3(FANCD2):c.1179T>C (p.Thr393=)	2177	FANCD2	Benign/Likely benign	72492998	RCV000289250\|RCV000507035\|RCV000987099\|RCV001094852\|RCV002225597;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84\|MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0	3	10088308	10088308	3:g.10088308T>C	ClinGen:CA2249542	C0015625 Fanconi anemia;
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser)	2177	FANCD2	Benign/Likely benign	145522204	RCV000120986\|RCV000422431\|RCV000987100\|RCV001084625\|RCV001146893;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84	3	10094159	10094159	3:g.10094159A>G	ClinGen:CA159433	C0015625 Fanconi anemia;
NM_001018115.3(FANCD2):c.1868A>C (p.Gln623Pro)	2177	FANCD2	Benign/Likely benign	36070315	RCV000120988\|RCV000369483\|RCV000987101\|RCV001094843\|RCV001573401\|RCV002225376;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D	3	10105516	10105516	3:g.10105516A>C	ClinGen:CA159443,UniProtKB:Q9BXW9#VAR_025835	C0015625 Fanconi anemia;
NM_001018115.3(FANCD2):c.2022-5C>T	2177	FANCD2	Conflicting interpretations of pathogenicity	4019784	RCV000202851\|RCV000368728\|RCV000860369\|RCV000987102\|RCV001434411\|RCV002225505;	N	MedGen:CN169374\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0003582,MeSH:D	3	10106408	10106408	3:g.10106408C>T	ClinGen:CA249053	C0015625 Fanconi anemia;
NM_001018115.3(FANCD2):c.2141C>T (p.Pro714Leu)	2177	FANCD2	Benign/Likely benign	3864017	RCV000120989\|RCV000372215\|RCV000987103\|RCV001094876\|RCV001705892\|RCV002225377;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0003582,MeSH:D	3	10106532	10106532	3:g.10106532C>T	ClinGen:CA159448,UniProtKB:Q9BXW9#VAR_022561	C0015625 Fanconi anemia;
NM_001018115.3(FANCD2):c.2494+95C>A	2177	FANCD2	Benign	1575797993	RCV000987104;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	3	10109096	10109096	3:g.10109096C>A	-
NM_001018115.3(FANCD2):c.2494+97T>A	2177	FANCD2	Benign	1575797996	RCV000987105;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	3	10109098	10109098	3:g.10109098T>A	-
NM_001018115.3(FANCD2):c.2494+98C>A	2177	FANCD2	Benign	1575798002	RCV000987106;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	3	10109099	10109099	3:g.10109099C>A	-
NM_001018115.3(FANCD2):c.3706C>T (p.Arg1236Cys)	2177	FANCD2	Uncertain significance	771078251	RCV000987107\|RCV001145657;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009214,MedGen:C3160738,OMIM:227646, Orphanet:84	3	10131998	10131998	3:g.10131998C>T	-
NM_001018115.3(FANCD2):c.3777+83_3777+86del	2177	FANCD2	Benign	773716319	RCV000987108\|RCV001675976;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	3	10132128	10132131	3:g.10132128_10132131del	-
NM_001018115.3(FANCD2):c.4234_4239del (p.Ser1412_Glu1413del)	2177	FANCD2	Uncertain significance	766605179	RCV000270627\|RCV000987109\|RCV001270121\|RCV002504148;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|Human Phenotype Ontology:HP:0000175,MONDO:MONDO:0016064,MedGen:C2981150, Orphanet:2014; Human Phenotype Ontology:HP:0000	3	10140448	10140453	NC_000003.11:g.10140452_10140457del	ClinGen:CA2250658
NM_004629.2(FANCG):c.992C>G (p.Pro331Arg)	2189	FANCG	Uncertain significance	765722724	RCV000988180\|RCV001247931\|RCV001827127;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0013565,MedGen:C3469527,OMIM:614082, Orphanet:84	9	35076513	35076513	9:g.35076513G>C	-
NM_004629.2(FANCG):c.770G>A (p.Arg257His)	2189	FANCG	Uncertain significance	372234656	RCV000988181\|RCV002505499;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0013565,MedGen:C3469527,OMIM:614082, Orphanet:84	9	35076975	35076975	9:g.35076975C>T	-
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe)	55215	FANCI	Benign/Likely benign	117125761	RCV000193016\|RCV000224770\|RCV000989374\|RCV001084635\|RCV001117437;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84	15	89828441	89828441	15:g.89828441C>T	ClinGen:CA206229	C0015625 Fanconi anemia;
NM_001113378.2(FANCI):c.2636+11C>G	55215	FANCI	Likely benign	1596307878	RCV000989375\|RCV002067584;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	15	89838336	89838336	15:g.89838336C>G	-
NM_001113378.2(FANCI):c.3119del (p.Lys1040fs)	55215	FANCI	Likely pathogenic	1596324325	RCV000989376\|RCV002505500;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84	15	89848405	89848405	15:g.89848405_89848405del	-
NM_001113378.2(FANCI):c.3652-70_3652-69del	55215	FANCI	Benign/Likely benign	11321073	RCV000989377\|RCV001615097;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202	15	89856048	89856049	15:g.89856048_89856049del	-
NM_001113378.2(FANCI):c.3706G>A (p.Val1236Ile)	55215	FANCI	Uncertain significance	377165815	RCV000467934\|RCV000989378\|RCV001821272\|RCV002506122;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0012186,MedGen:C1836861,OMIM:609053, Orphanet:84	15	89856189	89856189	15:g.89856189G>A	ClinGen:CA7723843	C0015625 Fanconi anemia;
NM_018062.4(FANCL):c.1021-6T>C	55120	FANCL	Likely benign	377052216	RCV000468930\|RCV000986761\|RCV001821348\|RCV002496824;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083, Orphanet:84	2	58387320	58387320	2:g.58387320A>G	ClinGen:CA1670329	C0015625 Fanconi anemia;
NM_018062.4(FANCL):c.778G>C (p.Val260Leu)	55120	FANCL	Uncertain significance	1573514956	RCV000986762;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	2	58390207	58390207	2:g.58390207C>G	-
NM_018062.4(FANCL):c.775+3A>G	55120	FANCL	Uncertain significance	975755966	RCV000986763\|RCV001360229;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	2	58390566	58390566	2:g.58390566T>C	-
NM_018062.4(FANCL):c.761_771del (p.Leu254fs)	55120	FANCL	Pathogenic	2104799592	RCV002227888;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	2	58390573	58390583	58390572	-
NM_018062.4(FANCL):c.296_297del (p.Gln99fs)	55120	FANCL	Conflicting interpretations of pathogenicity	779544327	RCV000986764\|RCV001858651\|RCV002284451\|RCV003467543;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083, Orphanet:84	2	58449154	58449155	2:g.58449154_58449155del	-
NM_006296.7(VRK2):c.102_105dup	-1	FANCL;VRK2	Conflicting interpretations of pathogenicity	759217526	RCV000192919\|RCV000226300\|RCV000513086\|RCV000986760\|RCV001195069\|RCV003401051;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0013566,MedGen:C3469528,OMIM:614083, Orphanet:84\|	2	58386928	58386929		LOVD 3:FANCL_000003,OMIM:608111.0003,ClinGen:CA277050
NM_020937.4(FANCM):c.53G>A (p.Arg18Gln)	57697	FANCM	Uncertain significance	146609069	RCV000554625\|RCV000989207\|RCV000763926\|RCV001770408\|RCV001821483\|RCV003338648;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086; MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096\|MedGen:C3661900\|MedGen	14	45605287	45605287	14:g.45605287G>A	ClinGen:CA7168688	C0015625 Fanconi anemia;
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His)	57697	FANCM	Conflicting interpretations of pathogenicity	139382267	RCV000475344\|RCV000989208\|RCV001569551\|RCV001821346\|RCV002257746\|RCV003316605\|RCV003447530;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0054862,M	14	45645253	45645253	14:g.45645253G>A	ClinGen:CA7169492	C0015625 Fanconi anemia;
NM_020937.4(FANCM):c.3830A>G (p.Asn1277Ser)	57697	FANCM	Uncertain significance	1594799862	RCV000989209;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	14	45645787	45645787	14:g.45645787A>G	-
NM_020937.4(FANCM):c.3938G>C (p.Ser1313Thr)	57697	FANCM	Uncertain significance	771311008	RCV000989210\|RCV001057419\|RCV002489459\|RCV003148902;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086; MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096\|MedGen:C3661900	14	45645895	45645895	14:g.45645895G>C	-
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg)	57697	FANCM	Conflicting interpretations of pathogenicity	183784665	RCV000989211\|RCV001242413\|RCV001772179;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	14	45653055	45653055	14:g.45653055G>A	-
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter)	57697	FANCM	Conflicting interpretations of pathogenicity	147021911	RCV000456962\|RCV000585292\|RCV000677276\|RCV000678209\|RCV000989212\|RCV001250424;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0054732,MedGen:C4748117,OMIM:618086\|MONDO:MONDO:0054862,MedGen:C4748170,OMIM:618096\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:	14	45658326	45658326	NC_000014.8:g.45658326C>T	ClinGen:CA7169906,OMIM:609644.0005	C0015625 Fanconi anemia;
NM_020937.4(FANCM):c.5353T>G (p.Leu1785Val)	57697	FANCM	Uncertain significance	755563315	RCV000989213;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	14	45665387	45665387	14:g.45665387T>G	-
NM_020937.4(FANCM):c.5440G>A (p.Glu1814Lys)	57697	FANCM	Uncertain significance	139074680	RCV000989214\|RCV001061433\|RCV001593165;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	14	45665474	45665474	14:g.45665474G>A	-
NM_032444.4(SLX4):c.5249C>T (p.Ala1750Val)	84464	SLX4	Likely benign	745421287	RCV000989488\|RCV001501307;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	3632599	3632599	16:g.3632599G>A	-
NM_032444.4(SLX4):c.5248G>T (p.Ala1750Ser)	84464	SLX4	Likely benign	771897046	RCV000989489\|RCV001358243\|RCV002256643;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	3632600	3632600	16:g.3632600C>A	-
NM_032444.4(SLX4):c.4881del (p.Thr1628fs)	84464	SLX4	Likely pathogenic	1596515638	RCV000989490;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	3633370	3633370	16:g.3633370_3633370del	-
NM_032444.4(SLX4):c.4739+7G>A	84464	SLX4	Conflicting interpretations of pathogenicity	748897456	RCV001489578\|RCV002272473;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	3634763	3634763	3634763	-
NM_032444.4(SLX4):c.4648C>T (p.Arg1550Trp)	84464	SLX4	Benign/Likely benign	77021998	RCV000437114\|RCV000500511\|RCV000989491\|RCV001080250\|RCV001121624;	N	MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84	16	3634861	3634861	16:g.3634861G>A	ClinGen:CA335760,UniProtKB:Q8IY92#VAR_069014	C0015625 Fanconi anemia;
NM_032444.4(SLX4):c.4405del (p.Ser1469fs)	84464	SLX4	Pathogenic	1596519854	RCV000989492;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	3639234	3639234	16:g.3639234_3639234del	-
NM_032444.4(SLX4):c.4391_4403del (p.Ser1464fs)	84464	SLX4	Pathogenic	1596519879	RCV000989493;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	3639236	3639248	16:g.3639236_3639248del	-
NM_032444.4(SLX4):c.4088C>A (p.Ser1363Ter)	84464	SLX4	Pathogenic/Likely pathogenic	1596520443	RCV000989494\|RCV002307648\|RCV002550612;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	3639551	3639551	16:g.3639551G>T	-
NM_032444.4(SLX4):c.4021A>G (p.Arg1341Gly)	84464	SLX4	Uncertain significance	747230215	RCV000989495\|RCV001213345\|RCV002488081;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84	16	3639618	3639618	16:g.3639618T>C	-
NM_032444.4(SLX4):c.3830G>A (p.Ser1277Asn)	84464	SLX4	Uncertain significance	1596520868	RCV000989496\|RCV001858708;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	3639809	3639809	16:g.3639809C>T	-
NM_032444.4(SLX4):c.3607C>G (p.Pro1203Ala)	84464	SLX4	Uncertain significance	745508761	RCV000989497\|RCV001869362;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	3640032	3640032	16:g.3640032G>C	-
NM_032444.4(SLX4):c.2941G>A (p.Gly981Arg)	84464	SLX4	Uncertain significance	546628836	RCV000536482\|RCV000989498\|RCV001293952;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84	16	3640698	3640698	16:g.3640698C>T	ClinGen:CA7866036	C0015625 Fanconi anemia;
NM_032444.4(SLX4):c.2878A>T (p.Ser960Cys)	84464	SLX4	Uncertain significance	772190416	RCV000989499;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	3640761	3640761	16:g.3640761T>A	-
NM_032444.4(SLX4):c.2654C>T (p.Pro885Leu)	84464	SLX4	Uncertain significance	147492092	RCV000474080\|RCV000500986\|RCV000989500\|RCV001119851\|RCV003159124;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84\|MedGen:C3661900	16	3640985	3640985	16:g.3640985G>A	ClinGen:CA7866106	C0015625 Fanconi anemia;
NM_032444.4(SLX4):c.1637A>G (p.Tyr546Cys)	84464	SLX4	Conflicting interpretations of pathogenicity	150547487	RCV000480800\|RCV000767083\|RCV000989501\|RCV001085760\|RCV001731703;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84	16	3647426	3647426	NC_000016.9:g.3647426T>C	ClinGen:CA7866469
NM_032444.4(SLX4):c.1547C>T (p.Ala516Val)	84464	SLX4	Uncertain significance	199683722	RCV000305863\|RCV000989502\|RCV001094397\|RCV001820950\|RCV003237823;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	16	3647516	3647516	16:g.3647516G>A	ClinGen:CA7866494	C0015625 Fanconi anemia;
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu)	84464	SLX4	Conflicting interpretations of pathogenicity	149126845	RCV000519850\|RCV000764064\|RCV000989503\|RCV001194850\|RCV001088147;	N	MedGen:C3661900\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	3647691	3647691	NC_000016.9:g.3647691T>C	ClinGen:CA7866534
NM_032444.4(SLX4):c.1186C>G (p.Leu396Val)	84464	SLX4	Uncertain significance	1596528058	RCV000989504\|RCV001858709;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	16	3647978	3647978	16:g.3647978G>C	-
NM_032444.4(SLX4):c.467C>A (p.Thr156Lys)	84464	SLX4	Conflicting interpretations of pathogenicity	144614070	RCV000468758\|RCV000501642\|RCV000989505;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	3658499	3658499	16:g.3658499G>T	ClinGen:CA7866863	C0015625 Fanconi anemia;
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp)	84464	SLX4	Conflicting interpretations of pathogenicity	137976282	RCV000233422\|RCV000764068\|RCV000989506\|RCV001005038\|RCV001194829\|RCV001570886;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0013499,MedGen:C3469542,OMIM:613951, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:CN169374\|MedGen	16	3658545	3658545	16:g.3658545C>A	ClinGen:CA7866881,UniProtKB:Q8IY92#VAR_068983	C0015625 Fanconi anemia;
NM_000135.4(FANCA):c.4249C>G (p.His1417Asp)	-1	ZNF276;FANCA	Conflicting interpretations of pathogenicity	17227403	RCV000120955\|RCV000226145\|RCV001115284\|RCV001552904;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:C3661900	16	89805301	89805301	16:g.89805301G>C	ClinGen:CA248738,UniProtKB:O15360#VAR_009658	C0015625 Fanconi anemia;
NM_000135.2(FANCA):c.2982-1580_3067-209del	84627	ZNF469	Pathogenic	-1	RCV001256395;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88344051	88347742	16:g.88344051_88344149del	-
NC_000016.10:g.88317551_88325754del	84627	ZNF469	Pathogenic	-1	RCV001256389;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88351156	88359359		-
NM_000135.2(FANCA):c.2151+328_2778+1066del	84627	ZNF469	Pathogenic	-1	RCV001256584;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88357733	88365259	NC_000016.9:g.88357733_88365259del	-
NC_000016.10:g.88334974_88341919del	84627	ZNF469	Pathogenic	-1	RCV001256579;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88368577	88375522		-
NC_000016.10:g.88335235_88340023del	84627	ZNF469	Pathogenic	-1	RCV001256256;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88368840	88373628		-
NC_000016.10:g.88341728_88343606del	84627	ZNF469	Pathogenic	-1	RCV001256472;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88375333	88377211		-
NM_000135.2(FANCA):c.1471-191_1626+740del	84627	ZNF469	Pathogenic	-1	RCV001256473;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88376050	88377224	16:g.88376050_88376148del	-
NM_000135.2(FANCA):c.1471-275_1626+656del	84627	ZNF469	Pathogenic	-1	RCV001256471;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88376125	88377299	16:g.88376125_88376223del	-
NC_000016.10:g.88342678_88348626del	84627	ZNF469	Pathogenic	-1	RCV001256356;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88376281	88382229		-
NM_000135.2(FANCA):c.2853-1360_2982-2296del	-1	ZNF469;LOC112486220	Pathogenic	-1	RCV001256282;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	16	88348428	88353975	NC_000016.9:g.88348428_88353975del	-

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