MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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

MSeqDR Mitochondrial Disease Portal

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

Disease Browser
Parent Node: Fanconi Anemia (D005199)
..Starting node ..FANCONI ANEMIA, COMPLEMENTATION GROUP E (OMIM:600901)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

4618

Name:

FANCONI ANEMIA, COMPLEMENTATION GROUP E

Definition:

Alternative IDs:

DO:DOID:0111084

ParentIDs:

MESH:D005199

TreeNumbers:

C15.378.071.085.080.280/600901 |C15.378.190.196.080.280/600901 |C16.320.077.280/600901 |C18.452.284.280/600901

Synonyms:

FACE |FANCE

Slim Mappings:

Blood disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 600901
MeSH: 600901
OMIM: 600901;
MSeqDR :
Genes: FANCE; MYOC;

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:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
18	HP:0001263	Global developmental delay NAMDC: Mental retardation
19	HP:0000365	Hearing impairment
20	HP:0000085	Horseshoe kidney
21	HP:0000815	Hypergonadotropic hypogonadism
22	HP:0001249	Intellectual disability
23	HP:0001909	Leukemia
24	HP:0000252	Microcephaly
25	HP:0000568	Microphthalmia
26	HP:0001875	Neutropenia
27	HP:0001876	Pancytopenia
28	HP:0003214	Prolonged G2 phase of cell cycle
29	HP:0000104	Renal agenesis
30	HP:0001896	Reticulocytopenia
31	HP:0004322	Short stature NAMDC: Short stature (patient��s height is below the 3rd percentile)
32	HP:0009778	Short thumb
33	HP:0001518	Small for gestational age
34	HP:0000486	Strabismus
35	HP:0001873	Thrombocytopenia

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_021922.3(FANCE):c.-197C>T	2178	FANCE	Uncertain significance	45570533	RCV001152084;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420126	35420126	6:g.35420126C>T	-
NM_021922.3(FANCE):c.-182G>A	2178	FANCE	Uncertain significance	886061324	RCV000385520;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420141	35420141	NC_000006.11:g.35420141G>A	ClinGen:CA10626662	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.-167C>T	2178	FANCE	Uncertain significance	911947663	RCV001152085;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420156	35420156	6:g.35420156C>T	-
NM_021922.3(FANCE):c.-162G>C	2178	FANCE	Uncertain significance	979441521	RCV001152086;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420161	35420161	6:g.35420161G>C	-
NM_021922.3(FANCE):c.-132A>G	2178	FANCE	Uncertain significance	886061325	RCV000293329;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420191	35420191	NC_000006.11:g.35420191A>G	ClinGen:CA10626665	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.-126T>A	2178	FANCE	Uncertain significance	930863473	RCV001153349;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420197	35420197	6:g.35420197T>A	-
NM_021922.3(FANCE):c.-105C>T	2178	FANCE	Uncertain significance	886061326	RCV000346170\|RCV001194793;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN517202	6	35420218	35420218	NC_000006.11:g.35420218C>T	ClinGen:CA10621945	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.-100C>T	2178	FANCE	Uncertain significance	374493565	RCV000393259;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420223	35420223	NC_000006.11:g.35420223C>T	ClinGen:CA10626667	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.-56C>T	2178	FANCE	Benign/Likely benign	4713866	RCV000287589;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420267	35420267	NC_000006.11:g.35420267C>T	ClinGen:CA10626506	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.-32A>T	2178	FANCE	Uncertain significance	1767142098	RCV001153350;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420291	35420291	6:g.35420291A>T	-
NM_021922.3(FANCE):c.-19G>C	2178	FANCE	Uncertain significance	13215706	RCV000344963;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420304	35420304	NC_000006.11:g.35420304G>C	ClinGen:CA3771343	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.-2_13del (p.Met1_Asp5del)	2178	FANCE	Uncertain significance	2150885287	RCV001908176;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420320	35420334	35420319	-
NC_000006.11:g.(?_35420323)_(35434122_?)dup	2178	FANCE	Uncertain significance	-1	RCV001967874;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420323	35434122	-1	-
NC_000006.11:g.(?_35420323)_(35424150_?)dup	2178	FANCE	Uncertain significance	-1	RCV003109839;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420323	35424150		-
NM_021922.3(FANCE):c.2T>C (p.Met1Thr)	2178	FANCE	Conflicting interpretations of pathogenicity	1462766132	RCV001370136\|RCV003120585;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35420324	35420324	35420324	-
NM_021922.3(FANCE):c.4G>C (p.Ala2Pro)	2178	FANCE	Uncertain significance	886061327	RCV000649003;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420326	35420326	NC_000006.11:g.35420326G>C	ClinGen:CA10623692	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.5C>T (p.Ala2Val)	2178	FANCE	Uncertain significance	-1	RCV002895287;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420327	35420327	NC_000006.11:g.35420327C>T	-
NM_021922.3(FANCE):c.8C>T (p.Thr3Ile)	2178	FANCE	Uncertain significance	1405929258	RCV001771639\|RCV003237650;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35420330	35420330	35420330	-
NM_021922.3(FANCE):c.14A>T (p.Asp5Val)	2178	FANCE	Uncertain significance	1767146702	RCV001051293;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420336	35420336	6:g.35420336A>T	-
NM_021922.3(FANCE):c.15C>T (p.Asp5=)	2178	FANCE	Likely benign	1298974698	RCV001495673;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420337	35420337	35420337	-
NM_021922.3(FANCE):c.15_16delinsAC (p.Asp5_Ala6delinsGluPro)	2178	FANCE	Uncertain significance	-1	RCV003088014;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420337	35420338	NC_000006.11:g.35420337_35420338delinsAC	-
NM_021922.3(FANCE):c.17C>T (p.Ala6Val)	2178	FANCE	Uncertain significance	1019486578	RCV001231176;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420339	35420339	6:g.35420339C>T	-
NM_021922.3(FANCE):c.18G>T (p.Ala6=)	2178	FANCE	Likely benign	962145261	RCV002094260;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420340	35420340	35420340	-
NM_021922.3(FANCE):c.24_33del (p.Pro9fs)	2178	FANCE	Likely pathogenic	-1	RCV003461479;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420340	35420349		-
NM_021922.3(FANCE):c.22C>T (p.Leu8Phe)	2178	FANCE	Uncertain significance	-1	RCV002908376;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420344	35420344	NC_000006.11:g.35420344C>T	-
NM_021922.3(FANCE):c.25C>A (p.Pro9Thr)	2178	FANCE	Uncertain significance	956659254	RCV001998383;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420347	35420347	35420347	-
NM_021922.3(FANCE):c.25C>T (p.Pro9Ser)	2178	FANCE	Uncertain significance	-1	RCV002715604;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420347	35420347	NC_000006.11:g.35420347C>T	-
NM_021922.3(FANCE):c.31G>A (p.Ala11Thr)	2178	FANCE	Uncertain significance	753304968	RCV000467955;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420353	35420353	NC_000006.11:g.35420353G>A	ClinGen:CA3771348	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.36G>T (p.Glu12Asp)	2178	FANCE	Uncertain significance	-1	RCV002308877\|RCV003099128;	N	MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420358	35420358	35420358	-
NM_021922.3(FANCE):c.52C>T (p.Pro18Ser)	2178	FANCE	Conflicting interpretations of pathogenicity	552241929	RCV000121005\|RCV000687310\|RCV002257437\|RCV003237728;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	6	35420374	35420374	6:g.35420374C>T	ClinGen:CA159522	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.53C>T (p.Pro18Leu)	2178	FANCE	Uncertain significance	991748781	RCV001064064\|RCV002256675\|RCV002554460;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	6	35420375	35420375	6:g.35420375C>T	-
NM_021922.3(FANCE):c.54C>T (p.Pro18=)	2178	FANCE	Likely benign	-1	RCV003069604;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420376	35420376		-
NM_021922.3(FANCE):c.59C>T (p.Ala20Val)	2178	FANCE	Uncertain significance	927154227	RCV001897755;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420381	35420381	35420381	-
NM_021922.3(FANCE):c.65T>C (p.Leu22Pro)	2178	FANCE	Uncertain significance	950301098	RCV000799206\|RCV002252240;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|	6	35420387	35420387	6:g.35420387T>C	-
NM_021922.3(FANCE):c.71C>A (p.Ala24Asp)	2178	FANCE	Uncertain significance	1045892220	RCV001341091;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420393	35420393	35420393	-
NM_021922.3(FANCE):c.74C>T (p.Pro25Leu)	2178	FANCE	Uncertain significance	-1	RCV002574664;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420396	35420396	NC_000006.11:g.35420396C>T	-
NM_021922.3(FANCE):c.84C>T (p.Leu28=)	2178	FANCE	Likely benign	1160645936	RCV001471475;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420406	35420406	35420406	-
NM_021922.3(FANCE):c.88CTGCAGGCG[1] (p.30LQA[1])	2178	FANCE	Uncertain significance	780106496	RCV000649009;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420409	35420417	6:g.35420409_35420417del	ClinGen:CA3771350	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.91C>T (p.Gln31Ter)	2178	FANCE	Pathogenic	1767152512	RCV001194795;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420413	35420413	6:g.35420413C>T	-
NM_021922.3(FANCE):c.95C>A (p.Ala32Glu)	2178	FANCE	Uncertain significance	924383249	RCV001317421;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420417	35420417	35420417	-
NM_021922.3(FANCE):c.100C>T (p.Gln34Ter)	2178	FANCE	Likely pathogenic	-1	RCV003468141;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420422	35420422		-
NM_021922.3(FANCE):c.104C>T (p.Ala35Val)	2178	FANCE	Uncertain significance	570498238	RCV001788983;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420426	35420426	35420426	-
NM_021922.3(FANCE):c.105G>A (p.Ala35=)	2178	FANCE	Likely benign	-1	RCV002602890;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420427	35420427		-
NM_021922.3(FANCE):c.117_136del (p.Arg41fs)	2178	FANCE	Likely pathogenic	-1	RCV003461481;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420436	35420455		-
NM_021922.3(FANCE):c.118del (p.Ala40fs)	2178	FANCE	Likely pathogenic	-1	RCV003461474;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420436	35420436		-
NM_021922.3(FANCE):c.125_129dup (p.Leu44fs)	2178	FANCE	Likely pathogenic	-1	RCV003468148;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420438	35420439		-
NM_021922.3(FANCE):c.118G>C (p.Ala40Pro)	2178	FANCE	Uncertain significance	2150885696	RCV001944927;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420440	35420440	35420440	-
NM_021922.3(FANCE):c.121C>T (p.Arg41Trp)	2178	FANCE	Uncertain significance	1767153896	RCV001155962;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420443	35420443	6:g.35420443C>T	-
NM_021922.3(FANCE):c.127G>A (p.Gly43Ser)	2178	FANCE	Uncertain significance	892819655	RCV001221081;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420449	35420449	6:g.35420449G>A	-
NM_021922.3(FANCE):c.128G>T (p.Gly43Val)	2178	FANCE	Uncertain significance	1767154137	RCV001958470;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420450	35420450	35420450	-
NM_021922.3(FANCE):c.128G>A (p.Gly43Asp)	2178	FANCE	Uncertain significance	1767154137	RCV002000468;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420450	35420450	35420450	-
NM_021922.3(FANCE):c.133G>C (p.Gly45Arg)	2178	FANCE	Uncertain significance	996436646	RCV001067914\|RCV002256677;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35420455	35420455	6:g.35420455G>C	-
NM_021922.3(FANCE):c.134G>T (p.Gly45Val)	2178	FANCE	Uncertain significance	-1	RCV002932100;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420456	35420456	NC_000006.11:g.35420456G>T	-
NM_021922.3(FANCE):c.136G>T (p.Val46Leu)	2178	FANCE	Uncertain significance	1366722396	RCV001913174;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420458	35420458	35420458	-
NM_021922.3(FANCE):c.138G>A (p.Val46=)	2178	FANCE	Likely benign	2150885789	RCV001437513;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420460	35420460	35420460	-
NM_021922.3(FANCE):c.139C>T (p.Leu47Phe)	2178	FANCE	Uncertain significance	-1	RCV002620440;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420461	35420461	NC_000006.11:g.35420461C>T	-
NM_021922.3(FANCE):c.145G>C (p.Ala49Pro)	2178	FANCE	Conflicting interpretations of pathogenicity	1225225979	RCV001771521\|RCV002488598\|RCV003154191;	N	MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	6	35420467	35420467	35420467	-
NM_021922.3(FANCE):c.145G>A (p.Ala49Thr)	2178	FANCE	Uncertain significance	1225225979	RCV001959423\|RCV002224127;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35420467	35420467	35420467	-
NM_021922.3(FANCE):c.148C>T (p.Leu50=)	2178	FANCE	Likely benign	1278828834	RCV002539204;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420470	35420470	6:g.35420470C>T	-
NM_021922.3(FANCE):c.149T>C (p.Leu50Pro)	2178	FANCE	Uncertain significance	1767156443	RCV001318753\|RCV002543757;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MeSH:D030342,MedGen:C0950123	6	35420471	35420471	35420471	-
NM_021922.3(FANCE):c.157C>T (p.Arg53Cys)	2178	FANCE	Uncertain significance	-1	RCV002571125;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420479	35420479	NC_000006.11:g.35420479C>T	-
NM_021922.3(FANCE):c.169C>T (p.Pro57Ser)	2178	FANCE	Uncertain significance	1561787173	RCV000700588;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420491	35420491	6:g.35420491C>T	-	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.169C>A (p.Pro57Thr)	2178	FANCE	Uncertain significance	1561787173	RCV001983900;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420491	35420491	35420491	-
NM_021922.3(FANCE):c.175G>T (p.Asp59Tyr)	2178	FANCE	Uncertain significance	1581696567	RCV000796513;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420497	35420497	6:g.35420497G>T	-
NM_021922.3(FANCE):c.181G>C (p.Gly61Arg)	2178	FANCE	Uncertain significance	2150885964	RCV001895315;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420503	35420503	35420503	-
NM_021922.3(FANCE):c.189G>T (p.Leu63Phe)	2178	FANCE	Uncertain significance	2150885989	RCV002008240;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420511	35420511	35420511	-
NM_021922.3(FANCE):c.199C>T (p.Leu67=)	2178	FANCE	Likely benign	1161408735	RCV001479467;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420521	35420521	6:g.35420521C>T	-
NM_021922.3(FANCE):c.200T>C (p.Leu67Pro)	2178	FANCE	Uncertain significance	1767159493	RCV001302696;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420522	35420522	35420522	-
NM_021922.3(FANCE):c.206G>A (p.Arg69Gln)	2178	FANCE	Conflicting interpretations of pathogenicity	758238449	RCV000537323\|RCV001797103\|RCV001821581\|RCV002530181;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	6	35420528	35420528	6:g.35420528G>A	ClinGen:CA3771352	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.210G>A (p.Glu70=)	2178	FANCE	Likely benign	1008512809	RCV000475331;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420532	35420532	NC_000006.11:g.35420532G>A	ClinGen:CA16611966	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.214C>T (p.Pro72Ser)	2178	FANCE	Uncertain significance	890865684	RCV000476331;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420536	35420536	NC_000006.11:g.35420536C>T	ClinGen:CA16611908	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.216G>T (p.Pro72=)	2178	FANCE	Conflicting interpretations of pathogenicity	886061328	RCV000305991;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420538	35420538	NC_000006.11:g.35420538G>T	ClinGen:CA10626511	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.221T>C (p.Val74Ala)	2178	FANCE	Uncertain significance	-1	RCV003071459;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420543	35420543	NC_000006.11:g.35420543T>C	-
NM_021922.3(FANCE):c.222G>C (p.Val74=)	2178	FANCE	Likely benign	1015415361	RCV002173722;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420544	35420544	35420544	-
NM_021922.3(FANCE):c.222G>T (p.Val74=)	2178	FANCE	Likely benign	1015415361	RCV002126316;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420544	35420544	35420544	-
NM_021922.3(FANCE):c.224A>C (p.Gln75Pro)	2178	FANCE	Uncertain significance	1309426375	RCV001209525\|RCV002256699;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35420546	35420546	6:g.35420546A>C	-
NM_021922.3(FANCE):c.229C>A (p.Pro77Thr)	2178	FANCE	Uncertain significance	587778335	RCV000121004\|RCV000460529\|RCV001762260\|RCV002256062;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35420551	35420551	NC_000006.11:g.35420551C>A	ClinGen:CA159519	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.229C>T (p.Pro77Ser)	2178	FANCE	Uncertain significance	587778335	RCV001921575;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420551	35420551	35420551	-
NM_021922.3(FANCE):c.239G>A (p.Arg80His)	2178	FANCE	Uncertain significance	1243363612	RCV002003130;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420561	35420561	35420561	-
NM_021922.3(FANCE):c.246G>A (p.Glu82=)	2178	FANCE	Likely benign	769779495	RCV001467471;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420568	35420568	NC_000006.11:g.35420568G>A	ClinGen:CA3771353	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.248T>C (p.Leu83Pro)	2178	FANCE	Uncertain significance	1767163490	RCV001323920;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420570	35420570	35420570	-
NM_021922.3(FANCE):c.248+1G>A	2178	FANCE	Pathogenic/Likely pathogenic	1480350743	RCV001194796\|RCV003163493;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35420571	35420571	6:g.35420571G>A	-
NM_021922.3(FANCE):c.248+1del	2178	FANCE	Likely pathogenic	1767163932	RCV001377608;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420571	35420571	35420570	-
NM_021922.3(FANCE):c.248+1G>T	2178	FANCE	Likely pathogenic	-1	RCV003468147;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420571	35420571		-
NM_021922.3(FANCE):c.248+2T>C	2178	FANCE	Likely pathogenic	1581696699	RCV000987684;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420572	35420572	6:g.35420572T>C	-
NM_021922.3(FANCE):c.248+5G>A	2178	FANCE	Uncertain significance	1027705914	RCV000998590\|RCV002549095;	N	MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420575	35420575	6:g.35420575G>A	-
NM_021922.3(FANCE):c.248+7C>A	2178	FANCE	Benign/Likely benign	186563531	RCV000465264\|RCV001821087\|RCV002257654;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35420577	35420577	NC_000006.11:g.35420577C>A	ClinGen:CA3771354	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.248+11G>C	2178	FANCE	Likely benign	-1	RCV002780669;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420581	35420581	NC_000006.11:g.35420581G>C	-
NM_021922.3(FANCE):c.248+13C>T	2178	FANCE	Likely benign	-1	RCV002586734;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420583	35420583	NC_000006.11:g.35420583C>T	-
NM_021922.3(FANCE):c.248+14C>A	2178	FANCE	Likely benign	-1	RCV002607416;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35420584	35420584	NC_000006.11:g.35420584C>A	-
NM_021922.3(FANCE):c.249-35A>G	2178	FANCE	Benign	7757405	RCV000253913\|RCV001689907\|RCV001701824;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423489	35423489	NC_000006.11:g.35423489A>G	ClinGen:CA3771358	CN169374 not specified;
NM_021922.3(FANCE):c.249G>T (p.Leu83=)	2178	FANCE	Uncertain significance	-1	RCV002597393;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423524	35423524		-
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser)	2178	FANCE	Conflicting interpretations of pathogenicity	145068586	RCV000467424\|RCV001269487\|RCV001653707;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	6	35423528	35423528	NC_000006.11:g.35423528C>T	ClinGen:CA3771366	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.256C>G (p.Leu86Val)	2178	FANCE	Uncertain significance	-1	RCV003020906;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423531	35423531	NC_000006.11:g.35423531C>G	-
NM_021922.3(FANCE):c.257T>C (p.Leu86Pro)	2178	FANCE	Uncertain significance	-1	RCV003098999;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423532	35423532	NC_000006.11:g.35423532T>C	-
NM_021922.3(FANCE):c.265C>T (p.Arg89Ter)	2178	FANCE	Pathogenic/Likely pathogenic	752690798	RCV001387796;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423540	35423540	35423540	-
NM_021922.3(FANCE):c.266G>T (p.Arg89Leu)	2178	FANCE	Benign/Likely benign	45600543	RCV000121008\|RCV000229853;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423541	35423541	NC_000006.11:g.35423541G>T	ClinGen:CA159531,UniProtKB:Q9HB96#VAR_023372	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.266G>A (p.Arg89Gln)	2178	FANCE	Uncertain significance	45600543	RCV001332416;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423541	35423541	35423541	-
NM_021922.3(FANCE):c.266G>C (p.Arg89Pro)	2178	FANCE	Uncertain significance	45600543	RCV002042367;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423541	35423541	35423541	-
NM_021922.3(FANCE):c.274C>T (p.Arg92Trp)	2178	FANCE	Conflicting interpretations of pathogenicity	375195621	RCV000525524\|RCV001821582\|RCV002256387;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35423549	35423549	6:g.35423549C>T	ClinGen:CA3771370	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.275G>A (p.Arg92Gln)	2178	FANCE	Uncertain significance	369035099	RCV001370412;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423550	35423550	35423550	-
NM_021922.3(FANCE):c.277A>T (p.Ile93Leu)	2178	FANCE	Uncertain significance	1767301656	RCV001313207;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423552	35423552	35423552	-
NM_021922.3(FANCE):c.284A>G (p.Gln95Arg)	2178	FANCE	Conflicting interpretations of pathogenicity	149097636	RCV000649010\|RCV002256452\|RCV002269298;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	6	35423559	35423559	6:g.35423559A>G	ClinGen:CA3771372	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.291C>A (p.Asn97Lys)	2178	FANCE	Uncertain significance	-1	RCV003147176;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423566	35423566	NC_000006.11:g.35423566C>A	-
NM_021922.3(FANCE):c.297del (p.Met99fs)	2178	FANCE	Likely pathogenic	754850404	RCV000481377\|RCV003464038;	N	MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423572	35423572	6:g.35423572_35423572del	ClinGen:CA3771374	CN517202 not provided;
NM_021922.3(FANCE):c.298T>A (p.Ser100Thr)	2178	FANCE	Uncertain significance	768911543	RCV000538084\|RCV001821583\|RCV002258965;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35423573	35423573	NC_000006.11:g.35423573T>A	ClinGen:CA3771375	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.304_855+155delinsGGACTCCCAGGGAG	2178	FANCE	Likely pathogenic	2150889955	RCV002026515;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423579	35424285	35423579	-
NC_000006.11:g.(?_35423579)_(35424285_?)del	2178	FANCE	Likely pathogenic	-1	RCV003109841;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423579	35424285		-
NM_021922.3(FANCE):c.311C>G (p.Ala104Gly)	2178	FANCE	Uncertain significance	773580818	RCV000474425\|RCV002280117\|RCV002255392;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35423586	35423586	NC_000006.11:g.35423586C>G	ClinGen:CA3771379	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.312C>T (p.Ala104=)	2178	FANCE	Likely benign	575747751	RCV002131038;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423587	35423587	35423587	-
NM_021922.3(FANCE):c.313G>A (p.Val105Ile)	2178	FANCE	Uncertain significance	373159305	RCV001771642\|RCV002258310\|RCV003237653;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	6	35423588	35423588	35423588	-
NM_021922.3(FANCE):c.313G>C (p.Val105Leu)	2178	FANCE	Uncertain significance	373159305	RCV002044951;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423588	35423588	35423588	-
NM_021922.3(FANCE):c.316C>T (p.Arg106Trp)	2178	FANCE	Uncertain significance	759034838	RCV000649004\|RCV001766400;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN517202	6	35423591	35423591	NC_000006.11:g.35423591C>T	ClinGen:CA3771383	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.318G>A (p.Arg106=)	2178	FANCE	Likely benign	-1	RCV002592283;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423593	35423593		-
NM_021922.3(FANCE):c.324G>A (p.Ser108=)	2178	FANCE	Likely benign	762826105	RCV001426907;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423599	35423599	35423599	-
NM_021922.3(FANCE):c.325C>T (p.Leu109=)	2178	FANCE	Likely benign	-1	RCV002766739;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423600	35423600		-
NM_021922.3(FANCE):c.327G>C (p.Leu109=)	2178	FANCE	Likely benign	1767304773	RCV002152847;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423602	35423602	35423602	-
NM_021922.3(FANCE):c.328C>T (p.Pro110Ser)	2178	FANCE	Uncertain significance	763968547	RCV001938336;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423603	35423603	35423603	-
NM_021922.3(FANCE):c.329C>T (p.Pro110Leu)	2178	FANCE	Uncertain significance	371485747	RCV001374563\|RCV002256725\|RCV002491867;	N	MONDO:MONDO:0003582,MeSH:D061325,MedGen:C0677776, Orphanet:145\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423604	35423604	35423604	-
NM_021922.3(FANCE):c.330G>A (p.Pro110=)	2178	FANCE	Conflicting interpretations of pathogenicity	757051494	RCV001337606;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423605	35423605	35423605	-
NM_021922.3(FANCE):c.334del (p.Ser112fs)	2178	FANCE	Pathogenic	1479445348	RCV001783262;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423607	35423607	35423606	-
NM_021922.3(FANCE):c.338G>C (p.Gly113Ala)	2178	FANCE	Uncertain significance	780304950	RCV001969966;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423613	35423613	35423613	-
NM_021922.3(FANCE):c.350_351del (p.Val117fs)	2178	FANCE	Likely pathogenic	-1	RCV003468143;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423623	35423624		-
NM_021922.3(FANCE):c.355C>T (p.Gln119Ter)	2178	FANCE	Pathogenic	121434505	RCV000009247;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423630	35423630	6:g.35423630C>T	ClinGen:CA254528,OMIM:613976.0001	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.356A>C (p.Gln119Pro)	2178	FANCE	Uncertain significance	781123077	RCV000822734;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423631	35423631	6:g.35423631A>C	-
NM_021922.3(FANCE):c.358A>G (p.Ile120Val)	2178	FANCE	Benign/Likely benign	201961713	RCV000705786\|RCV003153821;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	6	35423633	35423633	6:g.35423633A>G	-	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.363C>G (p.Ala121=)	2178	FANCE	Likely benign	-1	RCV003079417;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423638	35423638		-
NM_021922.3(FANCE):c.365A>T (p.Gln122Leu)	2178	FANCE	Uncertain significance	1554121253	RCV000550712;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423640	35423640	6:g.35423640A>T	ClinGen:CA363772762	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.371A>G (p.Asp124Gly)	2178	FANCE	Uncertain significance	-1	RCV002647872;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423646	35423646	NC_000006.11:g.35423646A>G	-
NM_021922.3(FANCE):c.373C>T (p.Leu125=)	2178	FANCE	Likely benign	-1	RCV003046785;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423648	35423648		-
NM_021922.3(FANCE):c.379C>G (p.Pro127Ala)	2178	FANCE	Uncertain significance	-1	RCV002721369;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423654	35423654	NC_000006.11:g.35423654C>G	-
NM_021922.3(FANCE):c.387A>C (p.Pro129=)	2178	FANCE	Benign	4713867	RCV000246343\|RCV000860093\|RCV001194799;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35423662	35423662	6:g.35423662A>C	ClinGen:CA3771398	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.387A>T (p.Pro129=)	2178	FANCE	Uncertain significance	4713867	RCV001157663;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423662	35423662	6:g.35423662A>T	-
NM_021922.3(FANCE):c.387_388delinsCC (p.Asp130His)	2178	FANCE	Uncertain significance	2150890289	RCV001971759;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423662	35423663	35423662	-
NM_021922.3(FANCE):c.396G>T (p.Trp132Cys)	2178	FANCE	Uncertain significance	866005940	RCV001822444\|RCV002489882;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423671	35423671	35423671	-
NM_021922.3(FANCE):c.396G>A (p.Trp132Ter)	2178	FANCE	Pathogenic	-1	RCV003025051;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423671	35423671	NC_000006.11:g.35423671G>A	-
NM_021922.3(FANCE):c.397C>T (p.Leu133Phe)	2178	FANCE	Uncertain significance	759124595	RCV000458900;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423672	35423672	NC_000006.11:g.35423672C>T	ClinGen:CA3771401	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.399C>T (p.Leu133=)	2178	FANCE	Likely benign	1056749845	RCV002106045;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423674	35423674	35423674	-
NM_021922.3(FANCE):c.400C>T (p.Arg134Cys)	2178	FANCE	Uncertain significance	181761362	RCV000464821;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423675	35423675	NC_000006.11:g.35423675C>T	ClinGen:CA3771402	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.401G>A (p.Arg134His)	2178	FANCE	Uncertain significance	774939689	RCV001327576;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423676	35423676	35423676	-
NM_021922.3(FANCE):c.405C>T (p.Ala135=)	2178	FANCE	Likely benign	1767311517	RCV002211701;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423680	35423680	35423680	-
NM_021922.3(FANCE):c.413A>G (p.Glu138Gly)	2178	FANCE	Uncertain significance	-1	RCV003100611;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423688	35423688	NC_000006.11:g.35423688A>G	-
NM_021922.3(FANCE):c.421C>T (p.Arg141Ter)	2178	FANCE	Pathogenic/Likely pathogenic	121434506	RCV000009248;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423696	35423696	6:g.35423696C>T	ClinGen:CA254531,OMIM:613976.0002	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.426G>A (p.Arg142=)	2178	FANCE	Likely benign	-1	RCV003118436;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423701	35423701		-
NM_021922.3(FANCE):c.430T>C (p.Leu144=)	2178	FANCE	Likely benign	1377892215	RCV001460790;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423705	35423705	35423705	-
NM_021922.3(FANCE):c.436del (p.Val146fs)	2178	FANCE	Pathogenic	1767313373	RCV001194800;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423707	35423707	6:g.35423707_35423707del	-
NM_021922.3(FANCE):c.436G>T (p.Val146Leu)	2178	FANCE	Uncertain significance	755204532	RCV000458433\|RCV002256267\|RCV003168796;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MeSH:D030342,MedGen:C0950123	6	35423711	35423711	NC_000006.11:g.35423711G>T	ClinGen:CA3771409	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.440G>A (p.Gly147Glu)	2178	FANCE	Uncertain significance	1220564322	RCV001231827;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423715	35423715	6:g.35423715G>A	-
NM_021922.3(FANCE):c.447C>G (p.Ser149=)	2178	FANCE	Likely benign	-1	RCV002612453;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423722	35423722		-
NM_021922.3(FANCE):c.448A>G (p.Met150Val)	2178	FANCE	Uncertain significance	1489457999	RCV001337494;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423723	35423723	35423723	-
NM_021922.3(FANCE):c.449T>C (p.Met150Thr)	2178	FANCE	Conflicting interpretations of pathogenicity	752797466	RCV001040547\|RCV003259045;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MeSH:D030342,MedGen:C0950123	6	35423724	35423724	6:g.35423724T>C	-
NM_021922.3(FANCE):c.457G>A (p.Ala153Thr)	2178	FANCE	Uncertain significance	151276683	RCV000649007;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423732	35423732	6:g.35423732G>A	ClinGen:CA3771412	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.461C>T (p.Ser154Phe)	2178	FANCE	Uncertain significance	1016962570	RCV002031550;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423736	35423736	35423736	-
NM_021922.3(FANCE):c.463C>T (p.Pro155Ser)	2178	FANCE	Uncertain significance	2150890589	RCV001950207;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423738	35423738	35423738	-
NM_021922.3(FANCE):c.463C>G (p.Pro155Ala)	2178	FANCE	Uncertain significance	2150890589	RCV001922358;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423738	35423738	35423738	-
NM_021922.3(FANCE):c.466C>T (p.Leu156=)	2178	FANCE	Likely benign	747537380	RCV001458990;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423741	35423741	6:g.35423741C>T	-
NM_021922.3(FANCE):c.480C>A (p.Cys160Ter)	2178	FANCE	Uncertain significance	45509302	RCV000259825;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423755	35423755	NC_000006.11:g.35423755C>A	ClinGen:CA10623696	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.480C>T (p.Cys160=)	2178	FANCE	Likely benign	45509302	RCV001410342;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423755	35423755	35423755	-
NM_021922.3(FANCE):c.487C>A (p.Gln163Lys)	2178	FANCE	Uncertain significance	1767316578	RCV002005737;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423762	35423762	35423762	-
NM_021922.3(FANCE):c.495A>G (p.Gln165=)	2178	FANCE	Likely benign	781480072	RCV002197481;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423770	35423770	35423770	-
NM_021922.3(FANCE):c.499C>T (p.Leu167=)	2178	FANCE	Likely benign	140563583	RCV002173925;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423774	35423774	35423774	-
NM_021922.3(FANCE):c.501A>G (p.Leu167=)	2178	FANCE	Likely benign	769404523	RCV002209318;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423776	35423776	35423776	-
NM_021922.3(FANCE):c.502T>C (p.Cys168Arg)	2178	FANCE	Uncertain significance	370057221	RCV001237211;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423777	35423777	6:g.35423777T>C	-
NM_021922.3(FANCE):c.505del (p.Arg169fs)	2178	FANCE	Likely pathogenic	-1	RCV003461473;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423780	35423780		-
NM_021922.3(FANCE):c.508G>T (p.Gly170Trp)	2178	FANCE	Uncertain significance	748817910	RCV001157664;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423783	35423783	6:g.35423783G>T	-
NM_021922.3(FANCE):c.524dup (p.Arg176fs)	2178	FANCE	Pathogenic/Likely pathogenic	773363446	RCV001536074;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423793	35423794	35423793	-
NM_021922.3(FANCE):c.524del (p.Gly175fs)	2178	FANCE	Likely pathogenic	773363446	RCV000722244\|RCV003460997;	N	MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423794	35423794	NC_000006.11:g.35423799del	-
NM_021922.3(FANCE):c.520G>C (p.Gly174Arg)	2178	FANCE	Uncertain significance	767509954	RCV001911325;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423795	35423795	35423795	-
NM_021922.3(FANCE):c.521G>T (p.Gly174Val)	2178	FANCE	Uncertain significance	1014679374	RCV001208626;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423796	35423796	6:g.35423796G>T	-
NM_021922.3(FANCE):c.522G>A (p.Gly174=)	2178	FANCE	Likely benign	145648734	RCV001465677\|RCV002255549;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35423797	35423797	6:g.35423797G>A	-
NM_021922.3(FANCE):c.524G>A (p.Gly175Asp)	2178	FANCE	Uncertain significance	765538271	RCV001771641\|RCV003237652;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35423799	35423799	35423799	-
NM_021922.3(FANCE):c.533T>G (p.Leu178Trp)	2178	FANCE	Uncertain significance	764017469	RCV001898956;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423808	35423808	35423808	-
NM_021922.3(FANCE):c.535A>C (p.Lys179Gln)	2178	FANCE	Uncertain significance	751676807	RCV002003251;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423810	35423810	35423810	-
NM_021922.3(FANCE):c.538del (p.Ser180fs)	2178	FANCE	Likely pathogenic	-1	RCV003461467;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423813	35423813		-
NM_021922.3(FANCE):c.539C>G (p.Ser180Cys)	2178	FANCE	Uncertain significance	-1	RCV002856392;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423814	35423814	NC_000006.11:g.35423814C>G	-
NM_021922.3(FANCE):c.540C>T (p.Ser180=)	2178	FANCE	Likely benign	781691272	RCV001497061;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423815	35423815	35423815	-
NM_021922.3(FANCE):c.541C>T (p.Pro181Ser)	2178	FANCE	Uncertain significance	-1	RCV002828406;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423816	35423816	NC_000006.11:g.35423816C>T	-
NM_021922.3(FANCE):c.542C>T (p.Pro181Leu)	2178	FANCE	Uncertain significance	1767323169	RCV001067717;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423817	35423817	6:g.35423817C>T	-
NM_021922.3(FANCE):c.551C>A (p.Pro184Gln)	2178	FANCE	Uncertain significance	373268808	RCV001194801;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423826	35423826	6:g.35423826C>A	-
NM_021922.3(FANCE):c.552A>C (p.Pro184=)	2178	FANCE	Conflicting interpretations of pathogenicity	138182352	RCV000868246;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423827	35423827	NC_000006.11:g.35423827A>C	ClinGen:CA3771438	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.559G>A (p.Glu187Lys)	2178	FANCE	Uncertain significance	142746353	RCV000649008;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423834	35423834	6:g.35423834G>A	ClinGen:CA3771440	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.561A>G (p.Glu187=)	2178	FANCE	Likely benign	1554121329	RCV000526284;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423836	35423836	6:g.35423836A>G	ClinGen:CA450123705	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.590C>T (p.Pro197Leu)	2178	FANCE	Uncertain significance	2150891086	RCV002021306;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423865	35423865	35423865	-
NM_021922.3(FANCE):c.592G>A (p.Gly198Arg)	2178	FANCE	Uncertain significance	747727711	RCV000538869;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423867	35423867	6:g.35423867G>A	ClinGen:CA3771444	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.598C>T (p.Arg200Cys)	2178	FANCE	Conflicting interpretations of pathogenicity	763151358	RCV000416904\|RCV000649006;	N	MONDO:MONDO:0002032,MedGen:C0699790\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423873	35423873	NC_000006.11:g.35423873C>T	ClinGen:CA3771446	C0699790 114500 Carcinoma of colon;
NM_021922.3(FANCE):c.599G>A (p.Arg200His)	2178	FANCE	Uncertain significance	150278839	RCV001230374;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423874	35423874	6:g.35423874G>A	-
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu)	2178	FANCE	Benign/Likely benign	7761870	RCV000121007\|RCV000467840\|RCV001194802;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35423886	35423886	6:g.35423886C>T	ClinGen:CA159528,UniProtKB:Q9HB96#VAR_023373	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.618A>G (p.Glu206=)	2178	FANCE	Likely benign	-1	RCV002751443;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423893	35423893		-
NM_021922.3(FANCE):c.619G>A (p.Glu207Lys)	2178	FANCE	Uncertain significance	-1	RCV002780151;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423894	35423894	NC_000006.11:g.35423894G>A	-
NM_021922.3(FANCE):c.621G>A (p.Glu207=)	2178	FANCE	Likely benign	1195525206	RCV002210219;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423896	35423896	35423896	-
NM_021922.3(FANCE):c.635del (p.Glu212fs)	2178	FANCE	Likely pathogenic	-1	RCV003468145;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423910	35423910		-
NM_021922.3(FANCE):c.652A>G (p.Lys218Glu)	2178	FANCE	Uncertain significance	370659315	RCV001946093;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423927	35423927	35423927	-
NM_021922.3(FANCE):c.653A>G (p.Lys218Arg)	2178	FANCE	Uncertain significance	148638909	RCV001947485;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423928	35423928	35423928	-
NM_021922.3(FANCE):c.656G>T (p.Arg219Ile)	2178	FANCE	Uncertain significance	551170184	RCV000807538;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423931	35423931	6:g.35423931G>T	-
NM_021922.3(FANCE):c.656G>A (p.Arg219Lys)	2178	FANCE	Uncertain significance	551170184	RCV003094195\|RCV002255796\|RCV002481062;	N	MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423931	35423931	35423931	-
NM_021922.3(FANCE):c.661C>T (p.Arg221Trp)	2178	FANCE	Uncertain significance	771767241	RCV001302300\|RCV002255642\|RCV003238340;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	6	35423936	35423936	35423936	-
NM_021922.3(FANCE):c.662G>A (p.Arg221Gln)	2178	FANCE	Uncertain significance	777849670	RCV001788984;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423937	35423937	35423937	-
NM_021922.3(FANCE):c.663G>T (p.Arg221=)	2178	FANCE	Likely benign	-1	RCV002952761;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423938	35423938		-
NM_021922.3(FANCE):c.677A>C (p.Glu226Ala)	2178	FANCE	Uncertain significance	2150891378	RCV002008376;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423952	35423952	35423952	-
NM_021922.3(FANCE):c.679G>A (p.Glu227Lys)	2178	FANCE	Uncertain significance	1287242303	RCV000556008;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423954	35423954	6:g.35423954G>A	ClinGen:CA363773564	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.685C>T (p.His229Tyr)	2178	FANCE	Uncertain significance	142737128	RCV001348403;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423960	35423960	35423960	-
NM_021922.3(FANCE):c.691_693del (p.Lys231del)	2178	FANCE	Uncertain significance	1767333988	RCV002010482;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423964	35423966	35423963	-
NM_021922.3(FANCE):c.693G>A (p.Lys231=)	2178	FANCE	Likely benign	202207657	RCV002256982\|RCV003120857;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423968	35423968		-
NM_021922.3(FANCE):c.696G>A (p.Glu232=)	2178	FANCE	Conflicting interpretations of pathogenicity	147356927	RCV000862983\|RCV001821088\|RCV002256221;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35423971	35423971	NC_000006.11:g.35423971G>A	ClinGen:CA3771465	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.698G>A (p.Arg233Lys)	2178	FANCE	Uncertain significance	-1	RCV002967252;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423973	35423973	NC_000006.11:g.35423973G>A	-
NM_021922.3(FANCE):c.702C>T (p.Pro234=)	2178	FANCE	Likely benign	-1	RCV002895007;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423977	35423977		-
NM_021922.3(FANCE):c.703G>A (p.Glu235Lys)	2178	FANCE	Uncertain significance	-1	RCV003071207;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423978	35423978	NC_000006.11:g.35423978G>A	-
NM_021922.3(FANCE):c.720A>G (p.Glu240=)	2178	FANCE	Likely benign	-1	RCV002994151;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423995	35423995		-
NM_021922.3(FANCE):c.722C>T (p.Ser241Phe)	2178	FANCE	Uncertain significance	933204286	RCV001216310;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35423997	35423997	6:g.35423997C>T	-
NM_021922.3(FANCE):c.726G>A (p.Leu242=)	2178	FANCE	Likely benign	-1	RCV002819659;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424001	35424001		-
NM_021922.3(FANCE):c.733GGA[1] (p.Gly246del)	2178	FANCE	Benign/Likely benign	45451605	RCV000194366\|RCV000460780\|RCV001618340\|RCV002257490;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35424008	35424010	6:g.35424008_35424010del	ClinGen:CA208494	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.740G>A (p.Ser247Asn)	2178	FANCE	Uncertain significance	1767336620	RCV001771640\|RCV003237651;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35424015	35424015	35424015	-
NM_021922.3(FANCE):c.742G>A (p.Ala248Thr)	2178	FANCE	Conflicting interpretations of pathogenicity	1330517530	RCV001901370\|RCV002557563\|RCV003154216;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MeSH:D030342,MedGen:C0950123\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	6	35424017	35424017	35424017	-
NM_021922.3(FANCE):c.743C>T (p.Ala248Val)	2178	FANCE	Uncertain significance	1767337048	RCV001038769;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424018	35424018	6:g.35424018C>T	-
NM_021922.3(FANCE):c.744A>G (p.Ala248=)	2178	FANCE	Likely benign	774688796	RCV001395714;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424019	35424019	35424019	-
NM_021922.3(FANCE):c.746C>T (p.Ser249Phe)	2178	FANCE	Uncertain significance	1036490024	RCV000706020;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424021	35424021	6:g.35424021C>T	-	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.751A>G (p.Ile251Val)	2178	FANCE	Uncertain significance	-1	RCV002633000;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424026	35424026	NC_000006.11:g.35424026A>G	-
NM_021922.3(FANCE):c.756G>A (p.Lys252=)	2178	FANCE	Likely benign	-1	RCV002602189;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424031	35424031		-
NM_021922.3(FANCE):c.759C>T (p.Asp253=)	2178	FANCE	Likely benign	200243667	RCV002087946;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424034	35424034	35424034	-
NM_021922.3(FANCE):c.763C>A (p.Pro255Thr)	2178	FANCE	Uncertain significance	766901564	RCV001236288;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424038	35424038	6:g.35424038C>A	-
NM_021922.3(FANCE):c.786C>T (p.Gly262=)	2178	FANCE	Uncertain significance	755421532	RCV001991432;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424061	35424061	35424061	-
NM_021922.3(FANCE):c.789G>C (p.Glu263Asp)	2178	FANCE	Uncertain significance	-1	RCV002765951;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424064	35424064	NC_000006.11:g.35424064G>C	-
NM_021922.3(FANCE):c.792C>T (p.Asp264=)	2178	FANCE	Likely benign	758132363	RCV000867778;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424067	35424067	6:g.35424067C>T	-
NM_021922.3(FANCE):c.797C>T (p.Ser266Leu)	2178	FANCE	Uncertain significance	-1	RCV002580841;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424072	35424072	NC_000006.11:g.35424072C>T	-
NM_021922.3(FANCE):c.798G>A (p.Ser266=)	2178	FANCE	Likely benign	746542545	RCV000549396;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424073	35424073	6:g.35424073G>A	ClinGen:CA3771481	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.798G>T (p.Ser266=)	2178	FANCE	Likely benign	746542545	RCV002147278;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424073	35424073	35424073	-
NM_021922.3(FANCE):c.812C>T (p.Ala271Val)	2178	FANCE	Uncertain significance	1060501874	RCV000473654;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424087	35424087	NC_000006.11:g.35424087C>T	ClinGen:CA16611972	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.818G>T (p.Gly273Val)	2178	FANCE	Uncertain significance	1468356265	RCV002042619;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424093	35424093	35424093	-
NM_021922.3(FANCE):c.821T>C (p.Leu274Pro)	2178	FANCE	Uncertain significance	376591931	RCV001340215;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424096	35424096	35424096	-
NM_021922.3(FANCE):c.832T>C (p.Leu278=)	2178	FANCE	Likely benign	-1	RCV002858588;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424107	35424107		-
NM_021922.3(FANCE):c.836del (p.Glu279fs)	2178	FANCE	Likely pathogenic	-1	RCV003461472;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424111	35424111		-
NM_021922.3(FANCE):c.851T>C (p.Ile284Thr)	2178	FANCE	Uncertain significance	370661452	RCV000823225\|RCV002535979;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MeSH:D030342,MedGen:C0950123	6	35424126	35424126	6:g.35424126T>C	-
NM_021922.3(FANCE):c.855+6T>G	2178	FANCE	Uncertain significance	1185107943	RCV001924826;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424136	35424136	35424136	-
NM_021922.3(FANCE):c.855+18C>G	2178	FANCE	Likely benign	-1	RCV002979415;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35424148	35424148	NC_000006.11:g.35424148C>G	-
NM_021922.3(FANCE):c.856-11C>G	2178	FANCE	Likely benign	756018135	RCV002178958;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425322	35425322	35425322	-
NM_021922.3(FANCE):c.856-11C>T	2178	FANCE	Likely benign	-1	RCV003009232;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425322	35425322	NC_000006.11:g.35425322C>T	-
NM_021922.3(FANCE):c.856-5C>T	2178	FANCE	Likely benign	749252957	RCV002171550;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425328	35425328	35425328	-
NM_021922.3(FANCE):c.856-3C>T	2178	FANCE	Uncertain significance	749111562	RCV000527593;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425330	35425330	6:g.35425330C>T	ClinGen:CA3771504	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.861G>A (p.Gln287=)	2178	FANCE	Likely benign	772248459	RCV002157917;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425338	35425338	35425338	-
NM_021922.3(FANCE):c.862C>T (p.Leu288Phe)	2178	FANCE	Uncertain significance	886061329	RCV000330627\|RCV002508211;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN517202	6	35425339	35425339	NC_000006.11:g.35425339C>T	ClinGen:CA10626513	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.869G>A (p.Arg290Lys)	2178	FANCE	Uncertain significance	747078723	RCV001760961\|RCV001772538\|RCV002540319;	N	MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MeSH:D030342,MedGen:C0950123	6	35425346	35425346	35425346	-
NM_021922.3(FANCE):c.875A>G (p.Gln292Arg)	2178	FANCE	Uncertain significance	1767398617	RCV001872979;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425352	35425352	35425352	-
NM_021922.3(FANCE):c.878A>G (p.Gln293Arg)	2178	FANCE	Uncertain significance	-1	RCV002711811;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425355	35425355	NC_000006.11:g.35425355A>G	-
NM_021922.3(FANCE):c.880delinsTT (p.Leu294fs)	2178	FANCE	Likely pathogenic	-1	RCV003468146;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425357	35425357		-
NM_021922.3(FANCE):c.897G>A (p.Glu299=)	2178	FANCE	Likely benign	2150893491	RCV002118216;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425374	35425374	35425374	-
NM_021922.3(FANCE):c.900+39A>G	2178	FANCE	Benign	13214239	RCV000254211\|RCV001194805\|RCV001702401;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425416	35425416	NC_000006.11:g.35425416A>G	ClinGen:CA3771518	CN169374 not specified;
NM_021922.3(FANCE):c.901-20C>T	2178	FANCE	Likely benign	754828130	RCV002213005;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425673	35425673	35425673	-
NM_021922.3(FANCE):c.901-7T>C	2178	FANCE	Likely benign	2150893886	RCV001480086;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425686	35425686	35425686	-
NM_021922.3(FANCE):c.903G>C (p.Gly301=)	2178	FANCE	Likely benign	781287698	RCV001416253;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425695	35425695	6:g.35425695G>C	-
NM_021922.3(FANCE):c.903G>A (p.Gly301=)	2178	FANCE	Likely benign	781287698	RCV001459488;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425695	35425695	35425695	-
NM_021922.3(FANCE):c.907G>C (p.Glu303Gln)	2178	FANCE	Uncertain significance	1470052853	RCV001920230;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425699	35425699	35425699	-
NM_021922.3(FANCE):c.929dup (p.Val311fs)	2178	FANCE	Pathogenic/Likely pathogenic	587778337	RCV000811557\|RCV001391222\|RCV001194806;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0005192,MeSH:C562463,MedGen:C0235974,OMIM:260350, Orphanet:1333, Orphanet:217074\|MedGen:C3661900	6	35425714	35425715	6:g.35425714_35425715insC	-
NM_021922.3(FANCE):c.929del (p.Pro310fs)	2178	FANCE	Likely pathogenic	587778337	RCV000121009\|RCV003460852;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425715	35425715	6:g.35425715_35425715del	ClinGen:CA159534	CN169374 not specified;
NM_021922.3(FANCE):c.926C>T (p.Pro309Leu)	2178	FANCE	Uncertain significance	151020666	RCV001897437;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425718	35425718	35425718	-
NM_021922.3(FANCE):c.927C>G (p.Pro309=)	2178	FANCE	Likely benign	763403812	RCV001400105;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425719	35425719	35425719	-
NM_021922.3(FANCE):c.927C>T (p.Pro309=)	2178	FANCE	Likely benign	-1	RCV003110834;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425719	35425719		-
NM_021922.3(FANCE):c.928C>T (p.Pro310Ser)	2178	FANCE	Uncertain significance	372788363	RCV002006608\|RCV003319504;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35425720	35425720	35425720	-
NM_021922.3(FANCE):c.928C>G (p.Pro310Ala)	2178	FANCE	Uncertain significance	-1	RCV003077122;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425720	35425720	NC_000006.11:g.35425720C>G	-
NM_021922.3(FANCE):c.929C>A (p.Pro310Gln)	2178	FANCE	Conflicting interpretations of pathogenicity	139600847	RCV000121010\|RCV000689014\|RCV003153392\|RCV003389394;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500\|MONDO:MONDO:0017919,MedGen:C1850321,OMIM:258040, Orphanet:322, Orphanet:93929	6	35425721	35425721	6:g.35425721C>A	ClinGen:CA159535	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.929C>G (p.Pro310Arg)	2178	FANCE	Uncertain significance	139600847	RCV000501716\|RCV000539612;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425721	35425721	NC_000006.11:g.35425721C>G	ClinGen:CA3771538	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.929C>T (p.Pro310Leu)	2178	FANCE	Uncertain significance	139600847	RCV001304496\|RCV002543105\|RCV003426034;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MeSH:D030342,MedGen:C0950123\|MedGen:C3661900	6	35425721	35425721	35425721	-
NM_021922.3(FANCE):c.930A>G (p.Pro310=)	2178	FANCE	Likely benign	-1	RCV003021738;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425722	35425722		-
NM_021922.3(FANCE):c.937C>T (p.Leu313=)	2178	FANCE	Conflicting interpretations of pathogenicity	557021652	RCV001152193;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425729	35425729	6:g.35425729C>T	-
NM_021922.3(FANCE):c.938T>C (p.Leu313Pro)	2178	FANCE	Uncertain significance	1767415225	RCV001326614;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425730	35425730	35425730	-
NM_021922.3(FANCE):c.940C>T (p.Gln314Ter)	2178	FANCE	Pathogenic	760150539	RCV001065359;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425732	35425732	6:g.35425732C>T	-
NM_021922.3(FANCE):c.951C>T (p.His317=)	2178	FANCE	Likely benign	753841588	RCV001430435;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425743	35425743	35425743	-
NM_021922.3(FANCE):c.952G>A (p.Glu318Lys)	2178	FANCE	Uncertain significance	754914337	RCV001822751\|RCV002482371;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425744	35425744	35425744	-
NM_021922.3(FANCE):c.953_958del (p.Glu318_Ser320delinsGly)	2178	FANCE	Uncertain significance	1475613789	RCV000552235\|RCV002282224;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN517202	6	35425745	35425750	6:g.35425745_35425750del	ClinGen:CA566491356	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.954A>G (p.Glu318=)	2178	FANCE	Likely benign	149719310	RCV001450573;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425746	35425746	6:g.35425746A>G	-
NM_021922.3(FANCE):c.956G>A (p.Cys319Tyr)	2178	FANCE	Uncertain significance	1440691539	RCV002004922;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425748	35425748	35425748	-
NM_021922.3(FANCE):c.959G>A (p.Ser320Asn)	2178	FANCE	Uncertain significance	1767417019	RCV001898602;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425751	35425751	35425751	-
NM_021922.3(FANCE):c.960T>A (p.Ser320Arg)	2178	FANCE	Uncertain significance	201528578	RCV001294036\|RCV002543023;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MeSH:D030342,MedGen:C0950123	6	35425752	35425752	35425752	-
NM_021922.3(FANCE):c.967C>T (p.Gln323Ter)	2178	FANCE	Pathogenic	1767417868	RCV001237507;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425759	35425759	6:g.35425759C>T	-
NM_021922.3(FANCE):c.968A>G (p.Gln323Arg)	2178	FANCE	Uncertain significance	1034716031	RCV000791875;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425760	35425760	6:g.35425760A>G	-
NM_021922.3(FANCE):c.969+1G>A	2178	FANCE	Likely pathogenic	-1	RCV003468142;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425762	35425762		-
NM_021922.3(FANCE):c.969+7C>T	2178	FANCE	Likely benign	-1	RCV003116010;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425768	35425768	NC_000006.11:g.35425768C>T	-
NM_021922.3(FANCE):c.969+11A>T	2178	FANCE	Likely benign	-1	RCV002922380;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425772	35425772	NC_000006.11:g.35425772A>T	-
NM_021922.3(FANCE):c.969+16T>G	2178	FANCE	Likely benign	780283194	RCV002104148;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35425777	35425777	35425777	-
NM_021922.3(FANCE):c.970-20C>G	2178	FANCE	Likely benign	765193137	RCV002138240;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426054	35426054	35426054	-
NM_021922.3(FANCE):c.970-18C>G	2178	FANCE	Likely benign	1376629458	RCV002114080;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426056	35426056	35426056	-
NM_021922.3(FANCE):c.970-18C>A	2178	FANCE	Likely benign	1376629458	RCV002177901;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426056	35426056	35426056	-
NM_021922.3(FANCE):c.970-17C>A	2178	FANCE	Likely benign	758179752	RCV002120316;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426057	35426057	35426057	-
NM_021922.3(FANCE):c.970-16C>T	2178	FANCE	Benign	117779586	RCV002117264;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426058	35426058	35426058	-
NM_021922.3(FANCE):c.970-16C>G	2178	FANCE	Likely benign	117779586	RCV002113681;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426058	35426058	35426058	-
NM_021922.3(FANCE):c.970-15G>A	2178	FANCE	Likely benign	369631267	RCV002091362;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426059	35426059	35426059	-
NM_021922.3(FANCE):c.970-12C>T	2178	FANCE	Likely benign	-1	RCV002966095;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426062	35426062	NC_000006.11:g.35426062C>T	-
NM_021922.3(FANCE):c.970-8G>A	2178	FANCE	Likely benign	-1	RCV002608519;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426066	35426066	NC_000006.11:g.35426066G>A	-
NM_021922.3(FANCE):c.970-6A>T	2178	FANCE	Uncertain significance	1206121566	RCV000818885;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426068	35426068	6:g.35426068A>T	-
NM_021922.3(FANCE):c.977T>G (p.Leu326Trp)	2178	FANCE	Conflicting interpretations of pathogenicity	779336261	RCV001041144\|RCV002255375\|RCV003153564;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	6	35426081	35426081	NC_000006.11:g.35426081T>G	ClinGen:CA3771571	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.981G>T (p.Leu327=)	2178	FANCE	Likely benign	772385794	RCV002130923;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426085	35426085	35426085	-
NM_021922.3(FANCE):c.981G>A (p.Leu327=)	2178	FANCE	Likely benign	772385794	RCV002095706;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426085	35426085	35426085	-
NM_021922.3(FANCE):c.983G>C (p.Cys328Ser)	2178	FANCE	Uncertain significance	372935921	RCV001933339;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426087	35426087	35426087	-
NM_021922.3(FANCE):c.983G>T (p.Cys328Phe)	2178	FANCE	Uncertain significance	-1	RCV002297354;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426087	35426087	35426087	-
NM_021922.3(FANCE):c.985G>A (p.Ala329Thr)	2178	FANCE	Uncertain significance	-1	RCV002775021;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426089	35426089	NC_000006.11:g.35426089G>A	-
NM_021922.3(FANCE):c.988C>G (p.Gln330Glu)	2178	FANCE	Uncertain significance	1263409404	RCV001217466;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426092	35426092	6:g.35426092C>G	-
NM_021922.3(FANCE):c.991C>G (p.Leu331Val)	2178	FANCE	Uncertain significance	45468994	RCV001315630;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426095	35426095	35426095	-
NM_021922.3(FANCE):c.992T>C (p.Leu331Pro)	2178	FANCE	Uncertain significance	-1	RCV002942203;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426096	35426096	NC_000006.11:g.35426096T>C	-
NM_021922.3(FANCE):c.993G>A (p.Leu331=)	2178	FANCE	Likely benign	1358873070	RCV001424659;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426097	35426097	35426097	-
NM_021922.3(FANCE):c.997C>T (p.Leu333Phe)	2178	FANCE	Uncertain significance	2150894670	RCV001993614;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426101	35426101	35426101	-
NM_021922.3(FANCE):c.998T>C (p.Leu333Pro)	2178	FANCE	Uncertain significance	770592868	RCV000649005;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426102	35426102	6:g.35426102T>C	ClinGen:CA3771577	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.999C>T (p.Leu333=)	2178	FANCE	Likely benign	776082827	RCV000532920;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426103	35426103	NC_000006.11:g.35426103C>T	ClinGen:CA3771578	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1007T>C (p.Leu336Pro)	2178	FANCE	Uncertain significance	886061330	RCV000271909;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426111	35426111	NC_000006.11:g.35426111T>C	ClinGen:CA10626514	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1018G>C (p.Gly340Arg)	2178	FANCE	Uncertain significance	45524646	RCV000121014\|RCV000231935\|RCV001194808;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35426122	35426122	6:g.35426122G>C	ClinGen:CA159545,UniProtKB:Q9HB96#VAR_023374	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1018G>A (p.Gly340Ser)	2178	FANCE	Uncertain significance	-1	RCV003002611;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426122	35426122	NC_000006.11:g.35426122G>A	-
NM_021922.3(FANCE):c.1023C>T (p.Leu341=)	2178	FANCE	Likely benign	1767435236	RCV002098540;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426127	35426127	35426127	-
NM_021922.3(FANCE):c.1027C>T (p.Arg343Trp)	2178	FANCE	Uncertain significance	567313440	RCV000649002;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426131	35426131	6:g.35426131C>T	ClinGen:CA3771581	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1028G>A (p.Arg343Gln)	2178	FANCE	Benign	45467798	RCV000121015\|RCV000473518;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426132	35426132	6:g.35426132G>A	ClinGen:CA159548,UniProtKB:Q9HB96#VAR_023375	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1031T>A (p.Leu344His)	2178	FANCE	Uncertain significance	2150894790	RCV001983632;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426135	35426135	35426135	-
NM_021922.3(FANCE):c.1034G>A (p.Cys345Tyr)	2178	FANCE	Uncertain significance	1007410805	RCV002048056;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426138	35426138	35426138	-
NM_021922.3(FANCE):c.1036A>C (p.Thr346Pro)	2178	FANCE	Uncertain significance	1767436675	RCV001908284;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426140	35426140	35426140	-
NM_021922.3(FANCE):c.1049C>A (p.Ala350Asp)	2178	FANCE	Uncertain significance	-1	RCV002970745;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426153	35426153	NC_000006.11:g.35426153C>A	-
NM_021922.3(FANCE):c.1051C>G (p.Leu351Val)	2178	FANCE	Uncertain significance	-1	RCV002580524;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426155	35426155	NC_000006.11:g.35426155C>G	-
NM_021922.3(FANCE):c.1053T>G (p.Leu351=)	2178	FANCE	Likely benign	755165473	RCV000649011;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426157	35426157	6:g.35426157T>G	ClinGen:CA3771587	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1057C>G (p.Pro353Ala)	2178	FANCE	Uncertain significance	878855070	RCV000226346;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426161	35426161	NC_000006.11:g.35426161C>G	ClinGen:CA10582449	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1058C>T (p.Pro353Leu)	2178	FANCE	Uncertain significance	587778339	RCV000121013\|RCV001854627;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426162	35426162	6:g.35426162C>T	ClinGen:CA159542	CN169374 not specified;
NM_021922.3(FANCE):c.1062T>C (p.Asp354=)	2178	FANCE	Likely benign	377505032	RCV001430868\|RCV003433161\|RCV002256774;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35426166	35426166	35426166	-
NM_021922.3(FANCE):c.1066A>G (p.Ser356Gly)	2178	FANCE	Uncertain significance	1767439057	RCV001194809;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426170	35426170	6:g.35426170A>G	-
NM_021922.3(FANCE):c.1068C>T (p.Ser356=)	2178	FANCE	Likely benign	-1	RCV002583697;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426172	35426172		-
NM_021922.3(FANCE):c.1069C>T (p.Leu357Phe)	2178	FANCE	Uncertain significance	185230199	RCV001761481\|RCV001868557\|RCV002539157;	N	MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MeSH:D030342,MedGen:C0950123	6	35426173	35426173	35426173	-
NM_021922.3(FANCE):c.1071C>T (p.Leu357=)	2178	FANCE	Benign	3823434	RCV000251793\|RCV000456346\|RCV001194810;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35426175	35426175	6:g.35426175C>T	ClinGen:CA3771591	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1076A>G (p.Asn359Ser)	2178	FANCE	Uncertain significance	-1	RCV003087629;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426180	35426180	NC_000006.11:g.35426180A>G	-
NM_021922.3(FANCE):c.1086G>C (p.Val362=)	2178	FANCE	Likely benign	146571065	RCV001452580;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426190	35426190	35426190	-
NM_021922.3(FANCE):c.1092C>T (p.Thr364=)	2178	FANCE	Likely benign	776318917	RCV002075324;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426196	35426196	35426196	-
NM_021922.3(FANCE):c.1094G>A (p.Arg365Lys)	2178	FANCE	Uncertain significance	1767440781	RCV001194811;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426198	35426198	6:g.35426198G>A	-
NM_021922.3(FANCE):c.1095A>C (p.Arg365Ser)	2178	FANCE	Conflicting interpretations of pathogenicity	141268133	RCV000121012\|RCV001153476;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426199	35426199	6:g.35426199A>C	ClinGen:CA159539	CN169374 not specified;
NM_021922.3(FANCE):c.1096del (p.Ser366fs)	2178	FANCE	Pathogenic/Likely pathogenic	1272613429	RCV001383881;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426199	35426199	35426198	-
NM_021922.3(FANCE):c.1111C>T (p.Arg371Trp)	2178	FANCE	Pathogenic/Likely pathogenic	775076977	RCV000686258\|RCV001816698;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35426215	35426215	6:g.35426215C>T	-	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1112G>A (p.Arg371Gln)	2178	FANCE	Uncertain significance	1351881430	RCV001210089;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426216	35426216	6:g.35426216G>A	-
NM_021922.3(FANCE):c.1113+1G>A	2178	FANCE	Likely pathogenic	2150895088	RCV001377491;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426218	35426218	35426218	-
NM_021922.3(FANCE):c.1113+2T>A	2178	FANCE	Likely pathogenic	-1	RCV003461471;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426219	35426219		-
NM_021922.3(FANCE):c.1113+6T>C	2178	FANCE	Uncertain significance	764119752	RCV001153477;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35426223	35426223	6:g.35426223T>C	-
NM_021922.3(FANCE):c.1114-17del	2178	FANCE	Likely benign	-1	RCV002806005;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427090	35427090	NC_000006.11:g.35427091del	-
NM_021922.3(FANCE):c.1114-16T>G	2178	FANCE	Likely benign	2150896195	RCV002085243;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427092	35427092	35427092	-
NM_021922.3(FANCE):c.1114-8G>A	2178	FANCE	Likely pathogenic	878854342	RCV000009249;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427100	35427100	6:g.35427100G>A	ClinGen:CA10575503,OMIM:613976.0003	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1114-4G>A	2178	FANCE	Conflicting interpretations of pathogenicity	368422520	RCV000863828\|RCV002258008;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35427104	35427104	6:g.35427104G>A	-
NM_021922.3(FANCE):c.1114-3_1115delinsGGCA	2178	FANCE	Pathogenic	1767491456	RCV001244686;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427105	35427109	6:g.35427106_35427109del	-
NM_021922.3(FANCE):c.1114-3T>C	2178	FANCE	Uncertain significance	-1	RCV002886294;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427105	35427105	NC_000006.11:g.35427105T>C	-
NM_021922.3(FANCE):c.1116C>T (p.Ile372=)	2178	FANCE	Conflicting interpretations of pathogenicity	143234424	RCV000462289\|RCV001821342\|RCV002256301;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35427110	35427110	NC_000006.11:g.35427110C>T	ClinGen:CA3771611	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1120T>C (p.Ser374Pro)	2178	FANCE	Uncertain significance	113175592	RCV001338996;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427114	35427114	35427114	-
NM_021922.3(FANCE):c.1130C>T (p.Ser377Phe)	2178	FANCE	Uncertain significance	1236565765	RCV001153478;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427124	35427124	6:g.35427124C>T	-
NM_021922.3(FANCE):c.1131C>A (p.Ser377=)	2178	FANCE	Likely benign	-1	RCV002770927;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427125	35427125		-
NM_021922.3(FANCE):c.1136C>G (p.Ala379Gly)	2178	FANCE	Uncertain significance	1233194875	RCV001954169;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427130	35427130	35427130	-
NM_021922.3(FANCE):c.1141_1144del (p.Arg381fs)	2178	FANCE	Pathogenic	2150896309	RCV001390298;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427133	35427136	35427132	-
NM_021922.3(FANCE):c.1141C>T (p.Arg381Cys)	2178	FANCE	Uncertain significance	371020401	RCV000121016\|RCV000468358\|RCV002257438;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35427135	35427135	6:g.35427135C>T	ClinGen:CA159551	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1141C>G (p.Arg381Gly)	2178	FANCE	Uncertain significance	-1	RCV002647010;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427135	35427135	NC_000006.11:g.35427135C>G	-
NM_021922.3(FANCE):c.1142G>A (p.Arg381His)	2178	FANCE	Uncertain significance	374232967	RCV001870275;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427136	35427136	35427136	-
NM_021922.3(FANCE):c.1145T>C (p.Leu382Pro)	2178	FANCE	Uncertain significance	2150896332	RCV001911702;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427139	35427139	35427139	-
NM_021922.3(FANCE):c.1164C>T (p.Thr388=)	2178	FANCE	Likely benign	2150896392	RCV002113764;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427158	35427158	35427158	-
NM_021922.3(FANCE):c.1176C>G (p.Ala392=)	2178	FANCE	Likely benign	1581704152	RCV001482421;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427170	35427170	6:g.35427170C>G	-
NM_021922.3(FANCE):c.1189C>A (p.Pro397Thr)	2178	FANCE	Uncertain significance	759782690	RCV000530647;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427183	35427183	6:g.35427183C>A	ClinGen:CA3771623	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1189C>G (p.Pro397Ala)	2178	FANCE	Uncertain significance	759782690	RCV001922900;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427183	35427183	35427183	-
NM_021922.3(FANCE):c.1195T>G (p.Cys399Gly)	2178	FANCE	Uncertain significance	-1	RCV002895277\|RCV002907734;	N	MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427189	35427189	NC_000006.11:g.35427189T>G	-
NM_021922.3(FANCE):c.1196G>A (p.Cys399Tyr)	2178	FANCE	Uncertain significance	1365782479	RCV001967868;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427190	35427190	35427190	-
NM_021922.3(FANCE):c.1200C>T (p.Ser400=)	2178	FANCE	Likely benign	752689765	RCV001410317;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427194	35427194	35427194	-
NM_021922.3(FANCE):c.1204C>T (p.Leu402Phe)	2178	FANCE	Uncertain significance	1256696675	RCV001958096\|RCV003401933;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|	6	35427198	35427198	35427198	-
NM_021922.3(FANCE):c.1221C>T (p.Leu407=)	2178	FANCE	Likely benign	752130850	RCV001499156;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427215	35427215	6:g.35427215C>T	-
NM_021922.3(FANCE):c.1221C>G (p.Leu407=)	2178	FANCE	Likely benign	752130850	RCV001444667;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427215	35427215	35427215	-
NM_021922.3(FANCE):c.1222C>T (p.Gln408Ter)	2178	FANCE	Pathogenic	-1	RCV003468144;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427216	35427216		-
NM_021922.3(FANCE):c.1232G>A (p.Gly411Asp)	2178	FANCE	Uncertain significance	1767499219	RCV001341222;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427226	35427226	35427226	-
NM_021922.3(FANCE):c.1237G>A (p.Gly413Ser)	2178	FANCE	Uncertain significance	757769907	RCV001051593;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427231	35427231	6:g.35427231G>A	-
NM_021922.3(FANCE):c.1237+1G>A	2178	FANCE	Likely pathogenic	-1	RCV003461468;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427232	35427232		-
NM_021922.3(FANCE):c.1237+8T>A	2178	FANCE	Likely benign	1767499963	RCV002196305;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427239	35427239	35427239	-
NM_021922.3(FANCE):c.1237+20C>G	2178	FANCE	Likely benign	755688409	RCV002121904;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427251	35427251	35427251	-
NM_021922.3(FANCE):c.1238-13G>C	2178	FANCE	Likely benign	756557647	RCV001436280;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427446	35427446	35427446	-
NM_021922.3(FANCE):c.1238-10C>T	2178	FANCE	Likely benign	765940689	RCV001502286;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427449	35427449	35427449	-
NM_021922.3(FANCE):c.1238-2A>C	2178	FANCE	Likely pathogenic	-1	RCV003461475;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427457	35427457		-
NM_021922.3(FANCE):c.1238-1G>C	2178	FANCE	Likely pathogenic	1767507722	RCV001781087;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427458	35427458	35427458	-
NM_021922.3(FANCE):c.1239dup (p.Pro414fs)	2178	FANCE	Pathogenic/Likely pathogenic	1561792535	RCV001951367;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427459	35427460	35427459	-
NM_021922.3(FANCE):c.1253_1254del (p.Glu418fs)	2178	FANCE	Likely pathogenic	-1	RCV003461478;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427472	35427473		-
NM_021922.3(FANCE):c.1254G>C (p.Glu418Asp)	2178	FANCE	Uncertain significance	-1	RCV002298172;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427475	35427475	35427475	-
NM_021922.3(FANCE):c.1254G>A (p.Glu418=)	2178	FANCE	Likely benign	-1	RCV003121395;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427475	35427475		-
NM_021922.3(FANCE):c.1260_1268del (p.Cys421_Leu423del)	2178	FANCE	Uncertain significance	2150897160	RCV001974158;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427479	35427487	35427478	-
NM_021922.3(FANCE):c.1258C>T (p.Leu420=)	2178	FANCE	Likely benign	-1	RCV003072982;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427479	35427479		-
NM_021922.3(FANCE):c.1260G>T (p.Leu420=)	2178	FANCE	Likely benign	-1	RCV003077374;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427481	35427481		-
NM_021922.3(FANCE):c.1262G>A (p.Cys421Tyr)	2178	FANCE	Uncertain significance	936988373	RCV001040266;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427483	35427483	6:g.35427483G>A	-
NM_021922.3(FANCE):c.1263T>C (p.Cys421=)	2178	FANCE	Uncertain significance	747692546	RCV001153479;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427484	35427484	6:g.35427484T>C	-
NM_021922.3(FANCE):c.1270G>T (p.Val424Leu)	2178	FANCE	Uncertain significance	2150897194	RCV001884969;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427491	35427491	35427491	-
NM_021922.3(FANCE):c.1276A>G (p.Met426Val)	2178	FANCE	Uncertain significance	764652720	RCV002051356\|RCV002256848;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35427497	35427497	35427497	-
NM_021922.3(FANCE):c.1278G>A (p.Met426Ile)	2178	FANCE	Likely benign	758380315	RCV000689181;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427499	35427499	6:g.35427499G>A	-	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1290G>T (p.Glu430Asp)	2178	FANCE	Uncertain significance	886061331	RCV000793453;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427511	35427511	NC_000006.11:g.35427511G>T	ClinGen:CA10623706	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1297G>A (p.Ala433Thr)	2178	FANCE	Uncertain significance	-1	RCV002671281;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427518	35427518	NC_000006.11:g.35427518G>A	-
NM_021922.3(FANCE):c.1309A>G (p.Met437Val)	2178	FANCE	Uncertain significance	746770705	RCV000543258;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427530	35427530	6:g.35427530A>G	ClinGen:CA3771661	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1310T>C (p.Met437Thr)	2178	FANCE	Conflicting interpretations of pathogenicity	142903218	RCV000474134\|RCV001821341\|RCV002256300;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35427531	35427531	NC_000006.11:g.35427531T>C	ClinGen:CA3771662	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1313T>G (p.Leu438Arg)	2178	FANCE	Uncertain significance	2150897316	RCV002015226;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427534	35427534	35427534	-
NM_021922.3(FANCE):c.1316G>T (p.Gly439Val)	2178	FANCE	Uncertain significance	776298967	RCV000560351;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427537	35427537	6:g.35427537G>T	ClinGen:CA3771663	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1316+10C>T	2178	FANCE	Likely benign	200479051	RCV000649012;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427547	35427547	6:g.35427547C>T	ClinGen:CA3771664	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1316+18C>T	2178	FANCE	Likely benign	768893669	RCV002157171;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427555	35427555	35427555	-
NM_021922.3(FANCE):c.1316+19G>A	2178	FANCE	Benign	6457823	RCV000244196\|RCV001194812\|RCV001514685;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427556	35427556	NC_000006.11:g.35427556G>A	ClinGen:CA3771666	CN169374 not specified;
NM_021922.3(FANCE):c.1316+20T>C	2178	FANCE	Likely benign	2150897379	RCV002186307;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35427557	35427557	35427557	-
NC_000006.11:g.(?_35428309)_(35434122_?)dup	2178	FANCE	Uncertain significance	-1	RCV003109840;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428309	35434122		-
NM_021922.3(FANCE):c.1317-11C>T	2178	FANCE	Conflicting interpretations of pathogenicity	147572271	RCV001156079\|RCV002256691;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35428318	35428318	6:g.35428318C>T	-
NM_021922.3(FANCE):c.1317-9G>A	2178	FANCE	Likely benign	-1	RCV002881844;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428320	35428320	NC_000006.11:g.35428320G>A	-
NM_021922.3(FANCE):c.1317-1G>A	2178	FANCE	Likely pathogenic	-1	RCV003461469;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428328	35428328		-
NM_021922.3(FANCE):c.1319A>G (p.Gln440Arg)	2178	FANCE	Uncertain significance	-1	RCV002578260;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428331	35428331	NC_000006.11:g.35428331A>G	-
NM_021922.3(FANCE):c.1331T>C (p.Leu444Pro)	2178	FANCE	Uncertain significance	745685973	RCV000609034\|RCV000649001;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428343	35428343	NC_000006.11:g.35428343T>C	ClinGen:CA3771681	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1333C>T (p.Pro445Ser)	2178	FANCE	Conflicting interpretations of pathogenicity	141551053	RCV000121017\|RCV000229190\|RCV003153393;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680, Orphanet:213500	6	35428345	35428345	6:g.35428345C>T	ClinGen:CA159554	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1336T>C (p.Trp446Arg)	2178	FANCE	Uncertain significance	1554122137	RCV000535961;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428348	35428348	NC_000006.11:g.35428348T>C	ClinGen:CA363777714	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1343A>C (p.Glu448Ala)	2178	FANCE	Uncertain significance	2150898436	RCV001883799;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428355	35428355	35428355	-
NM_021922.3(FANCE):c.1349C>T (p.Thr450Ile)	2178	FANCE	Conflicting interpretations of pathogenicity	201970876	RCV001048583\|RCV001819762\|RCV002552646;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374\|MeSH:D030342,MedGen:C0950123	6	35428361	35428361	6:g.35428361C>T	-
NM_021922.3(FANCE):c.1353C>T (p.Phe451=)	2178	FANCE	Likely benign	2150898463	RCV002207758;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428365	35428365	35428365	-
NM_021922.3(FANCE):c.1353C>G (p.Phe451Leu)	2178	FANCE	Uncertain significance	-1	RCV002711703;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428365	35428365	NC_000006.11:g.35428365C>G	-
NM_021922.3(FANCE):c.1356G>C (p.Leu452Phe)	2178	FANCE	Uncertain significance	1488514330	RCV001057297;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428368	35428368	6:g.35428368G>C	-
NM_021922.3(FANCE):c.1357G>T (p.Val453Leu)	2178	FANCE	Uncertain significance	-1	RCV002970706;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428369	35428369	NC_000006.11:g.35428369G>T	-
NM_021922.3(FANCE):c.1363del (p.Gln455fs)	2178	FANCE	Pathogenic	1767552099	RCV001236898;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428375	35428375	6:g.35428375_35428375del	-
NM_021922.3(FANCE):c.1378C>T (p.Arg460Trp)	2178	FANCE	Uncertain significance	200535245	RCV000376250\|RCV003151044;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374	6	35428390	35428390	NC_000006.11:g.35428390C>T	ClinGen:CA3771688	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1378C>G (p.Arg460Gly)	2178	FANCE	Benign	200535245	RCV002132277;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428390	35428390	35428390	-
NM_021922.3(FANCE):c.1379G>T (p.Arg460Leu)	2178	FANCE	Uncertain significance	541746126	RCV001980738;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428391	35428391	35428391	-
NM_021922.3(FANCE):c.1383+2T>C	2178	FANCE	Likely pathogenic	-1	RCV003461470;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428397	35428397		-
NM_021922.3(FANCE):c.1383+3G>A	2178	FANCE	Uncertain significance	752468400	RCV001327841;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428398	35428398	35428398	-
NM_021922.3(FANCE):c.1383+6C>G	2178	FANCE	Uncertain significance	763606597	RCV001880660;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428401	35428401	35428401	-
NM_021922.3(FANCE):c.1383+10C>T	2178	FANCE	Likely benign	1060504374	RCV001472346;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428405	35428405	NC_000006.11:g.35428405C>T	ClinGen:CA16611910	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1383+12G>T	2178	FANCE	Likely benign	-1	RCV003090153;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428407	35428407	NC_000006.11:g.35428407G>T	-
NM_021922.3(FANCE):c.1383+15C>G	2178	FANCE	Likely benign	1426965534	RCV002109369;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428410	35428410	35428410	-
NM_021922.3(FANCE):c.1383+20dup	2178	FANCE	Benign	770300367	RCV002136732;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428411	35428412	35428411	-
NM_021922.3(FANCE):c.1383+17G>A	2178	FANCE	Likely benign	-1	RCV003073972;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35428412	35428412	NC_000006.11:g.35428412G>A	-
NM_021922.3(FANCE):c.1384-14C>T	2178	FANCE	Likely benign	558453150	RCV002095900;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430552	35430552	35430552	-
NC_000006.11:g.(?_35430556)_(35434122_?)del	2178	FANCE	Uncertain significance	-1	RCV001374277;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430556	35434122	-1	-
NM_021922.3(FANCE):c.1384-10A>T	2178	FANCE	Likely benign	2150901325	RCV002075395;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430556	35430556	35430556	-
NM_021922.3(FANCE):c.1384-5T>C	2178	FANCE	Likely benign	777064305	RCV002217163;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430561	35430561	35430561	-
NM_021922.3(FANCE):c.1390A>G (p.Met464Val)	2178	FANCE	Uncertain significance	-1	RCV002805415;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430572	35430572	NC_000006.11:g.35430572A>G	-
NM_021922.3(FANCE):c.1392G>T (p.Met464Ile)	2178	FANCE	Uncertain significance	759978029	RCV001216388;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430574	35430574	6:g.35430574G>T	-
NM_021922.3(FANCE):c.1394C>T (p.Thr465Ile)	2178	FANCE	Uncertain significance	1767643426	RCV001336028;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430576	35430576	35430576	-
NM_021922.3(FANCE):c.1395C>T (p.Thr465=)	2178	FANCE	Likely benign	770219946	RCV002123177;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430577	35430577	35430577	-
NM_021922.3(FANCE):c.1424A>G (p.Lys475Arg)	2178	FANCE	Uncertain significance	200083899	RCV000460473\|RCV001821089;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374	6	35430606	35430606	NC_000006.11:g.35430606A>G	ClinGen:CA3771712	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1428C>T (p.Leu476=)	2178	FANCE	Likely benign	-1	RCV002890320;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430610	35430610		-
NM_021922.3(FANCE):c.1432A>G (p.Lys478Glu)	2178	FANCE	Uncertain significance	1242729665	RCV001982184;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430614	35430614	35430614	-
NM_021922.3(FANCE):c.1436_1437del (p.Lys479fs)	2178	FANCE	Likely pathogenic	-1	RCV003461476;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430618	35430619		-
NM_021922.3(FANCE):c.1440G>T (p.Gly480=)	2178	FANCE	Likely benign	757745455	RCV002121732;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430622	35430622	35430622	-
NM_021922.3(FANCE):c.1459A>G (p.Met487Val)	2178	FANCE	Uncertain significance	373735272	RCV000233167;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430641	35430641	6:g.35430641A>G	ClinGen:CA3771719	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1464C>T (p.Ala488=)	2178	FANCE	Likely benign	779775366	RCV001429529;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430646	35430646	NC_000006.11:g.35430646C>T	ClinGen:CA3771720	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1466A>T (p.Tyr489Phe)	2178	FANCE	Uncertain significance	1345207143	RCV000818139;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430648	35430648	6:g.35430648A>T	-
NM_021922.3(FANCE):c.1476C>T (p.Leu492=)	2178	FANCE	Likely benign	-1	RCV002775783;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430658	35430658		-
NM_021922.3(FANCE):c.1478T>C (p.Met493Thr)	2178	FANCE	Uncertain significance	979790377	RCV001956577;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430660	35430660	35430660	-
NM_021922.3(FANCE):c.1484C>T (p.Thr495Ile)	2178	FANCE	Uncertain significance	1442055811	RCV001997463;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430666	35430666	35430666	-
NM_021922.3(FANCE):c.1486G>A (p.Val496Met)	2178	FANCE	Uncertain significance	2150901627	RCV001370222;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430668	35430668	35430668	-
NM_021922.3(FANCE):c.1488G>A (p.Val496=)	2178	FANCE	Likely benign	-1	RCV002639779;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430670	35430670		-
NM_021922.3(FANCE):c.1489A>G (p.Met497Val)	2178	FANCE	Uncertain significance	781338655	RCV001925334;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430671	35430671	35430671	-
NM_021922.3(FANCE):c.1497G>C (p.Lys499Asn)	2178	FANCE	Uncertain significance	2150901647	RCV001911620;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430679	35430679	35430679	-
NM_021922.3(FANCE):c.1501C>T (p.Gln501Ter)	2178	FANCE	Uncertain significance	746321808	RCV001976214;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430683	35430683	35430683	-
NM_021922.3(FANCE):c.1501C>G (p.Gln501Glu)	2178	FANCE	Uncertain significance	746321808	RCV001926889;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430683	35430683	35430683	-
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr)	2178	FANCE	Benign	9462088	RCV000121019\|RCV000860473\|RCV001541132;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35430686	35430686	6:g.35430686G>A	ClinGen:CA159560,UniProtKB:Q9HB96#VAR_023376	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1507A>T (p.Asn503Tyr)	2178	FANCE	Uncertain significance	2150901658	RCV001931273;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430689	35430689	35430689	-
NM_021922.3(FANCE):c.1509C>T (p.Asn503=)	2178	FANCE	Benign/Likely benign	147166240	RCV000121018\|RCV000227002;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430691	35430691	6:g.35430691C>T	ClinGen:CA159557	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1509+1G>A	2178	FANCE	Likely pathogenic	745877509	RCV001255878;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430692	35430692	6:g.35430692G>A	-
NM_021922.3(FANCE):c.1509+3G>A	2178	FANCE	Uncertain significance	773938335	RCV000702371;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430694	35430694	6:g.35430694G>A	-	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1509+7A>G	2178	FANCE	Likely benign	1021695027	RCV002219481;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430698	35430698	35430698	-
NM_021922.3(FANCE):c.1509+8T>C	2178	FANCE	Likely benign	562092952	RCV001464344;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430699	35430699	6:g.35430699T>C	-
NM_021922.3(FANCE):c.1509+13A>G	2178	FANCE	Likely benign	-1	RCV002579162;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430704	35430704	NC_000006.11:g.35430704A>G	-
NM_021922.3(FANCE):c.1509+16G>T	2178	FANCE	Likely benign	2150901703	RCV002177814;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430707	35430707	35430707	-
NM_021922.3(FANCE):c.1509+17C>A	2178	FANCE	Likely benign	748424208	RCV002219508;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430708	35430708	35430708	-
NM_021922.3(FANCE):c.1509+19T>C	2178	FANCE	Likely benign	760565814	RCV002115096;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35430710	35430710	35430710	-
NM_021922.3(FANCE):c.1510-15T>C	2178	FANCE	Likely benign	-1	RCV002786579;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434006	35434006	NC_000006.11:g.35434006T>C	-
NM_021922.3(FANCE):c.1510-12C>G	2178	FANCE	Likely benign	747704642	RCV002110000;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434009	35434009	35434009	-
NM_021922.3(FANCE):c.1510-11C>T	2178	FANCE	Conflicting interpretations of pathogenicity	189384185	RCV000193517\|RCV000402087\|RCV001565912;	N	MedGen:CN169374\|MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35434010	35434010	NC_000006.11:g.35434010C>T	ClinGen:CA207059	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1510-9T>C	2178	FANCE	Likely benign	369210475	RCV001471906;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434012	35434012	NC_000006.11:g.35434012T>C	ClinGen:CA16612138	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1510-1G>A	2178	FANCE	Conflicting interpretations of pathogenicity	772678337	RCV001194814;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434020	35434020	6:g.35434020G>A	-
NM_021922.3(FANCE):c.1512C>A (p.Ile504=)	2178	FANCE	Likely benign	760228323	RCV002204203;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434023	35434023	35434023	-
NM_021922.3(FANCE):c.1517A>G (p.Glu506Gly)	2178	FANCE	Uncertain significance	766291860	RCV002049287;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434028	35434028	35434028	-
NM_021922.3(FANCE):c.1518G>A (p.Glu506=)	2178	FANCE	Likely benign	-1	RCV002881147;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434029	35434029		-
NM_021922.3(FANCE):c.1519A>G (p.Thr507Ala)	2178	FANCE	Uncertain significance	-1	RCV002589053;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434030	35434030	NC_000006.11:g.35434030A>G	-
NM_021922.3(FANCE):c.1520C>T (p.Thr507Ile)	2178	FANCE	Uncertain significance	1413425638	RCV000649000;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434031	35434031	NC_000006.11:g.35434031C>T	ClinGen:CA363778482	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1525A>C (p.Arg509=)	2178	FANCE	Likely benign	1293230097	RCV002198762;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434036	35434036	35434036	-
NM_021922.3(FANCE):c.1528C>G (p.Leu510Val)	2178	FANCE	Uncertain significance	-1	RCV003084096;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434039	35434039	NC_000006.11:g.35434039C>G	-
NM_021922.3(FANCE):c.1531G>T (p.Gly511Cys)	2178	FANCE	Uncertain significance	-1	RCV002302405;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434042	35434042	35434042	-
NM_021922.3(FANCE):c.1556A>C (p.Asn519Thr)	2178	FANCE	Uncertain significance	373712711	RCV001318867\|RCV003416201;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|	6	35434067	35434067	35434067	-
NM_021922.3(FANCE):c.1572G>A (p.Arg524=)	2178	FANCE	Benign/Likely benign	115195341	RCV000204051\|RCV000503170\|RCV001092260\|RCV002256121;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35434083	35434083	NC_000006.11:g.35434083G>A	ClinGen:CA348320	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1573A>G (p.Lys525Glu)	2178	FANCE	Uncertain significance	1256798501	RCV001970398;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434084	35434084	35434084	-
NM_021922.3(FANCE):c.1581G>A (p.Leu527=)	2178	FANCE	Likely benign	757384407	RCV001448312;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434092	35434092	35434092	-
NM_021922.3(FANCE):c.1582A>C (p.Lys528Gln)	2178	FANCE	Uncertain significance	767896075	RCV000544056;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434093	35434093	6:g.35434093A>C	ClinGen:CA3771758	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1588G>A (p.Ala530Thr)	2178	FANCE	Uncertain significance	377415237	RCV000476236;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434099	35434099	NC_000006.11:g.35434099G>A	ClinGen:CA3771760	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1591T>A (p.Leu531Met)	2178	FANCE	Uncertain significance	147390386	RCV000556590\|RCV003424132;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|	6	35434102	35434102	NC_000006.11:g.35434102T>A	ClinGen:CA3771761	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1593G>A (p.Leu531=)	2178	FANCE	Uncertain significance	886061332	RCV000335592;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434104	35434104	NC_000006.11:g.35434104G>A	ClinGen:CA10621952	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.1594A>C (p.Lys532Gln)	2178	FANCE	Uncertain significance	749697038	RCV002044939\|RCV002258315;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	6	35434105	35434105	35434105	-
NM_021922.3(FANCE):c.1594A>T (p.Lys532Ter)	2178	FANCE	Uncertain significance	-1	RCV002891227;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434105	35434105	NC_000006.11:g.35434105A>T	-
NM_021922.3(FANCE):c.1598A>T (p.His533Leu)	2178	FANCE	Uncertain significance	-1	RCV002756798;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434109	35434109	NC_000006.11:g.35434109A>T	-
NM_021922.3(FANCE):c.1606C>G (p.Pro536Ala)	2178	FANCE	Uncertain significance	1060501873	RCV000465072;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434117	35434117	NC_000006.11:g.35434117C>G	ClinGen:CA16612140	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.1607C>G (p.Pro536Arg)	2178	FANCE	Uncertain significance	1767835596	RCV001310043;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434118	35434118	35434118	-
NM_021922.3(FANCE):c.1608_1609del (p.Ter537ThrextTer?)	2178	FANCE	Uncertain significance	1767835895	RCV001350942;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434119	35434120	35434118	-
NM_021922.3(FANCE):c.1608C>G (p.Pro536=)	2178	FANCE	Likely benign	370301848	RCV002097144;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434119	35434119	35434119	-
NM_021922.3(FANCE):c.1610G>T (p.Ter537Leu)	2178	FANCE	Conflicting interpretations of pathogenicity	139547269	RCV000648999\|RCV002257904\|RCV002235507;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374	6	35434121	35434121	6:g.35434121G>T	ClinGen:CA3771765	C3160739 600901 Fanconi anemia, complementation group E;
NM_021922.3(FANCE):c.*63C>T	2178	FANCE	Uncertain significance	1767839821	RCV001157775;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434185	35434185	6:g.35434185C>T	-
NM_021922.3(FANCE):c.*151A>G	2178	FANCE	Benign	16876572	RCV000390487\|RCV001692026;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84\|MedGen:C3661900	6	35434273	35434273	NC_000006.11:g.35434273A>G	ClinGen:CA10626529	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.*213T>A	2178	FANCE	Uncertain significance	532782953	RCV001157776;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434335	35434335	6:g.35434335T>A	-
NM_021922.3(FANCE):c.*225T>C	2178	FANCE	Uncertain significance	1767848319	RCV001157777;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434347	35434347	6:g.35434347T>C	-
NM_021922.3(FANCE):c.*322C>T	2178	FANCE	Uncertain significance	559999264	RCV000367062;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434444	35434444	NC_000006.11:g.35434444C>T	ClinGen:CA10626533	C0015625 Fanconi anemia;
NM_021922.3(FANCE):c.*401G>C	2178	FANCE	Uncertain significance	886061333	RCV000274843;	N	MONDO:MONDO:0010953,MedGen:C3160739,OMIM:600901, Orphanet:84	6	35434523	35434523	6:g.35434523G>C	ClinGen:CA10626534	C0015625 Fanconi anemia;

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