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 C (OMIM:227645)
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:

4615

Name:

FANCONI ANEMIA, COMPLEMENTATION GROUP C

Definition:

Alternative IDs:

DO:DOID:0111087

ParentIDs:

MESH:D005199

TreeNumbers:

C15.378.071.085.080.280/227645 |C15.378.190.196.080.280/227645 |C16.320.077.280/227645 |C18.452.284.280/227645

Synonyms:

FA3 |FAC |FACC |FANCC |FANCONI PANCYTOPENIA, TYPE 3

Slim Mappings:

Blood disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: 227645
MeSH: 227645
OMIM: 227645;
MSeqDR :
Genes: FANCC; ITGA2B; ITGB3;

Phenotypes

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

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_022836.4(DCLRE1B):c.248A>G (p.Asp83Gly)	64858	DCLRE1B	Pathogenic	-1	RCV003221327;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	1	114449676	114449676		-
NM_022836.4(DCLRE1B):c.807C>T (p.His269=)	64858	DCLRE1B	Pathogenic	-1	RCV003221328;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	1	114454021	114454021		-
NM_000136.3(FANCC):c.*2564C>T	2176	FANCC	Uncertain significance	945363629	RCV001167224;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861425	97861425	9:g.97861425G>A	-
NM_000136.3(FANCC):c.*2552T>C	2176	FANCC	Benign	9673	RCV000319547;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861437	97861437	NC_000009.11:g.97861437A>G	ClinGen:CA10630586	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*2528A>G	2176	FANCC	Uncertain significance	1057515696	RCV000374166;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861461	97861461	NC_000009.11:g.97861461T>C	ClinGen:CA10630589	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*2524G>A	2176	FANCC	Uncertain significance	56199232	RCV001167225;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861465	97861465	9:g.97861465C>T	-
NM_000136.3(FANCC):c.*2402G>C	2176	FANCC	Uncertain significance	1354689137	RCV001167226;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861587	97861587	9:g.97861587C>G	-
NM_000136.3(FANCC):c.*2308G>A	2176	FANCC	Uncertain significance	1042363957	RCV001167227;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861681	97861681	9:g.97861681C>T	-
NM_000136.3(FANCC):c.*2305G>A	2176	FANCC	Uncertain significance	562465438	RCV000293968;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861684	97861684	NC_000009.11:g.97861684C>T	ClinGen:CA10634494	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*2296G>A	2176	FANCC	Uncertain significance	561975553	RCV000348933;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861693	97861693	NC_000009.11:g.97861693C>T	ClinGen:CA10634495	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*2271G>A	2176	FANCC	Likely benign	562841213	RCV000389360;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861718	97861718	NC_000009.11:g.97861718C>T	ClinGen:CA10627683	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*2246G>T	2176	FANCC	Uncertain significance	1367873898	RCV001167809;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861743	97861743	9:g.97861743C>A	-
NM_000136.3(FANCC):c.*2164G>T	2176	FANCC	Uncertain significance	566582636	RCV001167810;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861825	97861825	9:g.97861825C>A	-
NM_000136.3(FANCC):c.*2164G>A	2176	FANCC	Likely benign	566582636	RCV001167811;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861825	97861825	9:g.97861825C>T	-
NM_000136.3(FANCC):c.*2128C>T	2176	FANCC	Uncertain significance	567507884	RCV000295147;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861861	97861861	NC_000009.11:g.97861861G>A	ClinGen:CA10630590	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*2085C>A	2176	FANCC	Benign	4647559	RCV000345515;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861904	97861904	NC_000009.11:g.97861904G>T	ClinGen:CA10634151	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*2052G>C	2176	FANCC	Uncertain significance	539833295	RCV000402825;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97861937	97861937	NC_000009.11:g.97861937C>G	ClinGen:CA10630591	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1976C>T	2176	FANCC	Uncertain significance	752733985	RCV001169681;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862013	97862013	9:g.97862013G>A	-
NM_000136.3(FANCC):c.*1968G>A	2176	FANCC	Benign	114827984	RCV000310559;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862021	97862021	NC_000009.11:g.97862021C>T	ClinGen:CA10634152	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1901C>T	2176	FANCC	Uncertain significance	756111303	RCV001169682;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862088	97862088	9:g.97862088G>A	-
NM_000136.3(FANCC):c.*1895T>G	2176	FANCC	Uncertain significance	56161090	RCV000346754;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862094	97862094	NC_000009.11:g.97862094A>C	ClinGen:CA10634155	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1895T>C	2176	FANCC	Likely benign	56161090	RCV000394622;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862094	97862094	9:g.97862094A>G	ClinGen:CA10634496	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1879C>T	2176	FANCC	Likely benign	192262179	RCV000302950;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862110	97862110	9:g.97862110G>A	ClinGen:CA10634499	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1871G>A	2176	FANCC	Benign	4647558	RCV000360013;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862118	97862118	9:g.97862118C>T	ClinGen:CA10634501	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1727T>C	2176	FANCC	Uncertain significance	4647557	RCV000267658;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862262	97862262	9:g.97862262A>G	ClinGen:CA10634156	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1727T>A	2176	FANCC	Benign	4647557	RCV001165693;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862262	97862262	9:g.97862262A>T	-
NM_000136.3(FANCC):c.*1675A>G	2176	FANCC	Uncertain significance	183099416	RCV001165694;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862314	97862314	9:g.97862314T>C	-
NM_000136.3(FANCC):c.*1662C>T	2176	FANCC	Benign	4647556	RCV001165695;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862327	97862327	9:g.97862327G>A	-
NM_000136.3(FANCC):c.*1649A>G	2176	FANCC	Uncertain significance	560444013	RCV001165696;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862340	97862340	9:g.97862340T>C	-
NM_000136.3(FANCC):c.*1516A>G	2176	FANCC	Likely benign	541816451	RCV000296908;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862473	97862473	9:g.97862473T>C	ClinGen:CA10634514	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1515C>T	2176	FANCC	Uncertain significance	2071028910	RCV001165697;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862474	97862474	9:g.97862474G>A	-
NM_000136.3(FANCC):c.*1495T>G	2176	FANCC	Uncertain significance	41281198	RCV000354161;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862494	97862494	9:g.97862494A>C	ClinGen:CA10627685	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1483T>C	2176	FANCC	Uncertain significance	552548603	RCV000261661;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862506	97862506	NC_000009.11:g.97862506A>G	ClinGen:CA10630593	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1468C>T	2176	FANCC	Uncertain significance	780382671	RCV001167285;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862521	97862521	9:g.97862521G>A	-
NM_000136.3(FANCC):c.*1379C>G	2176	FANCC	Uncertain significance	55901384	RCV001167286;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862610	97862610	9:g.97862610G>C	-
NM_000136.3(FANCC):c.*1359C>G	2176	FANCC	Uncertain significance	1009336483	RCV000319143;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862630	97862630	9:g.97862630G>C	ClinGen:CA10634521	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1339C>T	2176	FANCC	Uncertain significance	144155068	RCV000387500;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862650	97862650	NC_000009.11:g.97862650G>A	ClinGen:CA10630595	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1332A>G	2176	FANCC	Uncertain significance	191983554	RCV000276745;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862657	97862657	NC_000009.11:g.97862657T>C	ClinGen:CA10630597	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1288T>C	2176	FANCC	Benign	4647554	RCV000334241;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862701	97862701	NC_000009.11:g.97862701A>G	ClinGen:CA10630600	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1276C>A	2176	FANCC	Uncertain significance	1057515698	RCV000381818;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862713	97862713	NC_000009.11:g.97862713G>T	ClinGen:CA10634526	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1262T>C	2176	FANCC	Likely benign	45520432	RCV000289755;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862727	97862727	NC_000009.11:g.97862727A>G	ClinGen:CA10630601	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1197A>G	2176	FANCC	Uncertain significance	1026341216	RCV001167879;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862792	97862792	9:g.97862792T>C	-
NM_000136.3(FANCC):c.*1096T>C	2176	FANCC	Uncertain significance	111688138	RCV001167880;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862893	97862893	9:g.97862893A>G	-
NM_000136.3(FANCC):c.*1059A>T	2176	FANCC	Uncertain significance	1044866059	RCV001167881;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862930	97862930	9:g.97862930T>A	-
NM_000136.3(FANCC):c.*1045C>T	2176	FANCC	Uncertain significance	537983135	RCV000346992;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862944	97862944	NC_000009.11:g.97862944G>A	ClinGen:CA10627686	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*1028C>T	2176	FANCC	Uncertain significance	556229977	RCV001167882;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97862961	97862961	9:g.97862961G>A	-
NM_000136.3(FANCC):c.*984G>A	2176	FANCC	Uncertain significance	3780559	RCV001167883;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863005	97863005	9:g.97863005C>T	-
NM_000136.3(FANCC):c.*983C>T	2176	FANCC	Uncertain significance	56059656	RCV000385191;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863006	97863006	NC_000009.11:g.97863006G>A	ClinGen:CA10634527	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*884C>T	2176	FANCC	Uncertain significance	1038927110	RCV000283790;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863105	97863105	NC_000009.11:g.97863105G>A	ClinGen:CA10630605	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*825C>A	2176	FANCC	Uncertain significance	1057515700	RCV000340730;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863164	97863164	NC_000009.11:g.97863164G>T	ClinGen:CA10630612	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*667C>T	2176	FANCC	Uncertain significance	150462386	RCV000286954;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863322	97863322	NC_000009.11:g.97863322G>A	ClinGen:CA10627687	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*660C>T	2176	FANCC	Likely benign	114612660	RCV001169751;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863329	97863329	9:g.97863329G>A	-
NM_000136.3(FANCC):c.*593C>G	2176	FANCC	Likely benign	561885351	RCV000397279;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863396	97863396	NC_000009.11:g.97863396G>C	ClinGen:CA10630623	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*587C>T	2176	FANCC	Likely benign	190544450	RCV001169752;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863402	97863402	9:g.97863402G>A	-
NM_000136.3(FANCC):c.*577G>A	2176	FANCC	Uncertain significance	1303539766	RCV001169753;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863412	97863412	9:g.97863412C>T	-
NM_000136.3(FANCC):c.*576C>T	2176	FANCC	Uncertain significance	1057515701	RCV000299984;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863413	97863413	NC_000009.11:g.97863413G>A	ClinGen:CA10627691	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*516T>G	2176	FANCC	Uncertain significance	1004604171	RCV000357215;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863473	97863473	NC_000009.11:g.97863473A>C	ClinGen:CA10634161	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*483A>G	2176	FANCC	Uncertain significance	548064261	RCV001165768;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863506	97863506	9:g.97863506T>C	-
NM_000136.3(FANCC):c.*476A>T	2176	FANCC	Uncertain significance	756786451	RCV001165769;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863513	97863513	9:g.97863513T>A	-
NM_000136.3(FANCC):c.*450G>A	2176	FANCC	Uncertain significance	149227790	RCV000195156\|RCV000397276;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863539	97863539	NC_000009.11:g.97863539C>T	ClinGen:CA209794	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*431T>C	2176	FANCC	Uncertain significance	550009657	RCV001165770;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863558	97863558	9:g.97863558A>G	-
NM_000136.3(FANCC):c.*359A>G	2176	FANCC	Benign	4647551	RCV000312338;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863630	97863630	NC_000009.11:g.97863630T>C	ClinGen:CA10627699	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*267G>A	2176	FANCC	Uncertain significance	769817519	RCV001165771;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863722	97863722	9:g.97863722C>T	-
NM_000136.3(FANCC):c.*254G>A	2176	FANCC	Uncertain significance	773331481	RCV000277005;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863735	97863735	NC_000009.11:g.97863735C>T	ClinGen:CA10627700	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*250G>A	2176	FANCC	Likely benign	193261247	RCV001167354;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863739	97863739	9:g.97863739C>T	-
NM_000136.3(FANCC):c.*249C>T	2176	FANCC	Uncertain significance	1046795121	RCV000325080;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863740	97863740	NC_000009.11:g.97863740G>A	ClinGen:CA10630629	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*213T>G	2176	FANCC	Likely benign	184733418	RCV001167355;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863776	97863776	9:g.97863776A>C	-
NM_000136.3(FANCC):c.*143A>G	2176	FANCC	Uncertain significance	189154697	RCV000363324;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97863846	97863846	NC_000009.11:g.97863846T>C	ClinGen:CA10634530	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*116A>C	2176	FANCC	Benign	7048910	RCV000270993\|RCV001195062;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97863873	97863873	NC_000009.11:g.97863873T>G	ClinGen:CA10627704	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*96A>G	2176	FANCC	Conflicting interpretations of pathogenicity	55687573	RCV001167356\|RCV001565827;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97863893	97863893	9:g.97863893T>C	-
NM_000136.3(FANCC):c.*42G>A	2176	FANCC	Benign	7029888	RCV000245556\|RCV000376126\|RCV001195061;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97863947	97863947	9:g.97863947C>T	ClinGen:CA5137268	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.*5C>T	2176	FANCC	Benign/Likely benign	117175949	RCV000124976\|RCV000205839\|RCV000576112\|RCV001167953\|RCV001357500\|RCV003457642;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|M	9	97863984	97863984	9:g.97863984G>A	ClinGen:CA290835	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1670_1674dup (p.Ter559LysextTer?)	2176	FANCC	Uncertain significance	1554827101	RCV000667706\|RCV002397351;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97863991	97863992	9:g.97863991_97863992insGACTT	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)	2176	FANCC	Uncertain significance	758866109	RCV000684927\|RCV001788325\|RCV002397358\|RCV003442017;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	9	97863994	97863994	NC_000009.11:g.97863994C>A	-	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	2176	FANCC	Conflicting interpretations of pathogenicity	370974124	RCV000218828\|RCV000505654\|RCV000818572\|RCV002399801;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97864003	97864003	NC_000009.11:g.97864003G>A	ClinGen:CA5137288	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	2176	FANCC	Pathogenic/Likely pathogenic	104886458	RCV000012823\|RCV000058925\|RCV001221431\|RCV002399319\|RCV003421917;	Y	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	9	97864005	97864005	9:g.97864005A>G	ClinGen:CA284829,UniProtKB:Q00597#VAR_005233,OMIM:613899.0001	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1653dup (p.Lys552Ter)	2176	FANCC	Pathogenic	2134382250	RCV002249975;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864012	97864013	97864012	-
NM_000136.3(FANCC):c.1645G>C (p.Glu549Gln)	2176	FANCC	Uncertain significance	-1	RCV002394974\|RCV003230294;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864021	97864021	97864021	-
NM_000136.3(FANCC):c.1643G>A (p.Arg548Gln)	2176	FANCC	Uncertain significance	730881729	RCV000160494\|RCV000630940\|RCV001012509\|RCV001818357\|RCV003153437;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864023	97864023	NC_000009.11:g.97864023C>T	ClinGen:CA299203	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	2176	FANCC	Pathogenic/Likely pathogenic	104886457	RCV000012827\|RCV000058924\|RCV000205197\|RCV000572840;	Y	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97864024	97864024	9:g.97864024G>A	ClinGen:CA284826,OMIM:613899.0005	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1634A>G (p.Lys545Arg)	2176	FANCC	Conflicting interpretations of pathogenicity	571668582	RCV000214884\|RCV000543270\|RCV001012385\|RCV001355318;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864032	97864032	9:g.97864032T>C	ClinGen:CA5137290	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu)	2176	FANCC	Uncertain significance	1064793496	RCV000478964\|RCV001042878\|RCV002395145\|RCV002506160;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864033	97864033	9:g.97864033T>C	ClinGen:CA16618872	CN517202 not provided;
NM_000136.3(FANCC):c.1628C>A (p.Ser543Ter)	2176	FANCC	Pathogenic/Likely pathogenic	867319477	RCV000409524\|RCV000657699\|RCV001059596;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97864038	97864038	9:g.97864038G>T	ClinGen:CA16041334	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1611C>A (p.Gly537=)	2176	FANCC	Likely benign	1027358273	RCV000615257\|RCV000631009\|RCV001274608\|RCV002395619\|RCV003431152;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	9	97864055	97864055	9:g.97864055G>T	ClinGen:CA196536712	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1599G>A (p.Trp533Ter)	2176	FANCC	Likely pathogenic	1057516455	RCV000411700;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864067	97864067	9:g.97864067C>T	ClinGen:CA16041335	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1598_1599insAG (p.Trp533Ter)	2176	FANCC	Pathogenic	2071086256	RCV001195060;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864067	97864068	9:g.97864067_97864068insCT	-
NM_000136.3(FANCC):c.1596A>G (p.Arg532=)	2176	FANCC	Likely benign	1588008241	RCV000813387\|RCV001271435;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864070	97864070	9:g.97864070T>C	-
NM_000136.3(FANCC):c.1595G>A (p.Arg532Lys)	2176	FANCC	Conflicting interpretations of pathogenicity	55939573	RCV000199976\|RCV000520121\|RCV001012322\|RCV001167954\|RCV003153471;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0008170,MedGen:C1140680,O	9	97864071	97864071	NC_000009.11:g.97864071C>T	ClinGen:CA339012	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1593C>T (p.Tyr531=)	2176	FANCC	Likely benign	758842354	RCV000875725\|RCV001271436\|RCV002399959;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97864073	97864073	9:g.97864073G>A	-
NM_000136.3(FANCC):c.1587_1590dup (p.Tyr531fs)	2176	FANCC	Likely pathogenic	1554827136	RCV000667900;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864075	97864076	9:g.97864075_97864076insCAAG	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu)	2176	FANCC	Uncertain significance	587779901	RCV000115344\|RCV000195617\|RCV000566338\|RCV001271437;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864091	97864091	9:g.97864091A>C	ClinGen:CA287193	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1560C>T (p.His520=)	2176	FANCC	Likely benign	150020474	RCV000422537\|RCV000460738\|RCV000575734\|RCV001274609\|RCV001697831;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97864106	97864106	9:g.97864106G>A	ClinGen:CA5137298	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1555dup (p.Thr519fs)	2176	FANCC	Pathogenic/Likely pathogenic	794726667	RCV000012828\|RCV001851810;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97864110	97864111	9:g.97864110_97864111insT	OMIM:613899.0006,ClinGen:CA256206	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1549_1553del (p.Glu517fs)	2176	FANCC	Pathogenic/Likely pathogenic	1554827159	RCV000668283\|RCV001225609;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97864113	97864117	9:g.97864113_97864117del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1550dup (p.Ile518fs)	2176	FANCC	Pathogenic	2071089000	RCV001195059;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864115	97864116	9:g.97864115_97864116insT	-
NM_000136.3(FANCC):c.1544C>G (p.Thr515Ser)	2176	FANCC	Uncertain significance	201379302	RCV000284344\|RCV000519902\|RCV001012118\|RCV001095337\|RCV001821124;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374	9	97864122	97864122	NC_000009.11:g.97864122G>C	ClinGen:CA5137299	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1534-1G>T	2176	FANCC	Likely pathogenic	1364238660	RCV000672742\|RCV002388182;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97864133	97864133	9:g.97864133C>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NC_000009.11:g.(97864133_97869347)_(97869552_97873744)del	2176	FANCC	Likely pathogenic	-1	RCV001825105;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864133	97873744	-1	-
NM_000136.3(FANCC):c.1534-2A>G	2176	FANCC	Likely pathogenic	1554827166	RCV000668308;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864134	97864134	9:g.97864134T>C	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1534-5T>G	2176	FANCC	Uncertain significance	730881727	RCV000160491\|RCV000532636\|RCV001271440\|RCV002390388;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97864137	97864137	NC_000009.11:g.97864137A>C	ClinGen:CA299199	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1534-5del	2176	FANCC	Conflicting interpretations of pathogenicity	748342368	RCV000458841\|RCV000610407\|RCV001271439\|RCV002461222;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN517202	9	97864137	97864137	NC_000009.11:g.97864138del	ClinGen:CA5137301	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1534-8G>A	2176	FANCC	Uncertain significance	2071090579	RCV001167955;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864140	97864140	9:g.97864140C>T	-
NM_000136.3(FANCC):c.1534-9T>C	2176	FANCC	Likely benign	536836859	RCV001466197\|RCV002507534;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864141	97864141	9:g.97864141A>G	-
NM_000136.3(FANCC):c.1534-18C>T	2176	FANCC	Benign/Likely benign	1289718209	RCV000988193\|RCV001712842\|RCV002549704\|RCV002488078;	N	MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97864150	97864150	9:g.97864150G>A	-
NM_000136.3(FANCC):c.1533+13G>A	2176	FANCC	Benign/Likely benign	200515307	RCV001354456\|RCV001692373\|RCV002070223\|RCV002476624;	N	MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869335	97869335	97869335	-
NM_000136.3(FANCC):c.1533+9C>T	2176	FANCC	Likely benign	863224323	RCV000670456\|RCV001458184;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97869339	97869339	NC_000009.11:g.97869339G>A	ClinGen:CA339450	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1533+2T>C	2176	FANCC	Likely pathogenic	1057517170	RCV000410650;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869346	97869346	9:g.97869346A>G	ClinGen:CA16041336	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1533+1G>C	2176	FANCC	Conflicting interpretations of pathogenicity	753885687	RCV000409707\|RCV001380007\|RCV002392933;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97869347	97869347	9:g.97869347C>G	ClinGen:CA5137319	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1533+1G>T	2176	FANCC	Conflicting interpretations of pathogenicity	753885687	RCV001063719\|RCV001585965\|RCV002402446;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97869347	97869347	9:g.97869347C>A	-
NM_000136.3(FANCC):c.1517G>A (p.Trp506Ter)	2176	FANCC	Pathogenic/Likely pathogenic	1057516488	RCV000409398\|RCV001850946;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97869364	97869364	9:g.97869364C>T	ClinGen:CA16041337	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr)	2176	FANCC	Uncertain significance	780179187	RCV000204741\|RCV000521377\|RCV000565449\|RCV002503808;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869368	97869368	9:g.97869368C>T	ClinGen:CA348944	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1509G>A (p.Thr503=)	2176	FANCC	Conflicting interpretations of pathogenicity	144278080	RCV000160504\|RCV000198398\|RCV000571952\|RCV001167956;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869372	97869372		ClinGen:CA299226	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1503C>T (p.Gly501=)	2176	FANCC	Likely benign	2134454633	RCV001478330\|RCV002396137\|RCV002501653;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869378	97869378	97869378	-
NM_000136.3(FANCC):c.1498G>T (p.Gly500Ter)	2176	FANCC	Likely pathogenic	1057516963	RCV000409084;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869383	97869383	9:g.97869383C>A	ClinGen:CA16041338	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser)	2176	FANCC	Uncertain significance	1564641164	RCV000709078\|RCV000988194\|RCV003303200;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97869386	97869386	9:g.97869386G>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1494T>C (p.Ala498=)	2176	FANCC	Conflicting interpretations of pathogenicity	76895298	RCV000205349\|RCV000568553\|RCV001167957\|RCV001260352\|RCV001657994;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	9	97869387	97869387	9:g.97869387A>G	ClinGen:CA349507	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1494T>G (p.Ala498=)	2176	FANCC	Pathogenic	76895298	RCV001195058;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869387	97869387	9:g.97869387A>C	-
NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)	2176	FANCC	Uncertain significance	730881725	RCV000160489\|RCV000204351\|RCV001011857\|RCV001167958;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869388	97869388	NC_000009.11:g.97869388G>A	ClinGen:CA299193	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1487T>G (p.Leu496Arg)	2176	FANCC	Pathogenic	121917785	RCV000012830;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869394	97869394	9:g.97869394A>C	ClinGen:CA256207,UniProtKB:Q00597#VAR_005232,OMIM:613899.0008	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1485G>A (p.Leu495=)	2176	FANCC	Benign/Likely benign	56082100	RCV000124975\|RCV000205120\|RCV000567268\|RCV001167959\|RCV001356823;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142	9	97869396	97869396		ClinGen:CA290832	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1467C>T (p.His489=)	2176	FANCC	Likely benign	1554828385	RCV000564689\|RCV001273976\|RCV001471901;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97869414	97869414	9:g.97869414G>A	ClinGen:CA466092285	C0027672 Hereditary cancer-predisposing syndrome;
NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser)	2176	FANCC	Uncertain significance	1415434775	RCV000692215\|RCV002060874\|RCV002388236\|RCV003322809;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	9	97869417	97869417	NC_000009.11:g.97869417C>G	-	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1453del (p.Gln485fs)	2176	FANCC	Likely pathogenic	-1	RCV003460179;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869428	97869428		-
NM_000136.3(FANCC):c.1444_1446del (p.Pro482del)	2176	FANCC	Uncertain significance	773270231	RCV000480099\|RCV001011612\|RCV001273977\|RCV001865464;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97869435	97869437	NC_000009.11:g.97869437_97869439del	ClinGen:CA5137331	CN169374 not specified;
NM_000136.3(FANCC):c.1425A>G (p.Thr475=)	2176	FANCC	Likely benign	199739450	RCV000216583\|RCV000566153\|RCV000630987\|RCV001273978\|RCV001357238\|RCV001537821;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|M	9	97869456	97869456	NC_000009.11:g.97869456T>C	ClinGen:CA5137335	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1418A>G (p.Gln473Arg)	2176	FANCC	Uncertain significance	1588029264	RCV001011440\|RCV001273979;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869463	97869463	9:g.97869463T>C	-
NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	2176	FANCC	Pathogenic/Likely pathogenic	1410356625	RCV000666989\|RCV001381636\|RCV002388175;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97869464	97869464	9:g.97869464G>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1414G>A (p.Gly472Arg)	2176	FANCC	Conflicting interpretations of pathogenicity	201063698	RCV000120972\|RCV000205771\|RCV001011455\|RCV001310662\|RCV001509574;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869467	97869467	9:g.97869467C>T	ClinGen:CA332152	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1407G>A (p.Thr469=)	2176	FANCC	Benign/Likely benign	79722116	RCV000124974\|RCV000205056\|RCV000573088\|RCV001169817\|RCV001357280;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97869474	97869474		ClinGen:CA290829	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1392_1402del (p.Gln465fs)	2176	FANCC	Pathogenic/Likely pathogenic	1564641485	RCV000700929\|RCV003465615;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869479	97869489	9:g.97869479_97869489del	-	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)	2176	FANCC	Pathogenic	1035139114	RCV000709079\|RCV001390077;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97869488	97869488	9:g.97869488G>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1387_1388del (p.Ala464fs)	2176	FANCC	Pathogenic/Likely pathogenic	730881710	RCV000160469\|RCV000672163\|RCV001011210\|RCV000798003;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97869493	97869494	NC_000009.11:g.97869494AG[1]	ClinGen:CA299135	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1377_1378del (p.Ser459fs)	2176	FANCC	Pathogenic/Likely pathogenic	2134456127	RCV001385163\|RCV003236895\|RCV003463004;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869503	97869504	97869502	-
NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)	2176	FANCC	Conflicting interpretations of pathogenicity	56394801	RCV000115342\|RCV000805530\|RCV000709080\|RCV001011247\|RCV000988197;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009215,MedGen:C3469521,O	9	97869507	97869507	NC_000009.11:g.97869507T>G	ClinGen:CA287187	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1368G>T (p.Met456Ile)	2176	FANCC	Uncertain significance	863224609	RCV000199855\|RCV002381686\|RCV002492914;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869513	97869513	9:g.97869513C>A	ClinGen:CA338913	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1366A>G (p.Met456Val)	2176	FANCC	Uncertain significance	1554828443	RCV000554186\|RCV001011062\|RCV001273980;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869515	97869515	9:g.97869515T>C	ClinGen:CA374106227	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)	2176	FANCC	Uncertain significance	730881724	RCV000220014\|RCV000456548\|RCV000709081\|RCV000988198\|RCV001011135;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0	9	97869518	97869518	9:g.97869518C>A	ClinGen:CA5137339	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis)	2176	FANCC	Uncertain significance	1064793615	RCV000485198\|RCV002506162;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869523	97869526	NC_000009.11:g.97869523_97869526delinsTGGC	ClinGen:CA16618876	CN169374 not specified;
NM_000136.3(FANCC):c.1358T>A (p.Leu453His)	2176	FANCC	Uncertain significance	1490551416	RCV001011156\|RCV001305626\|RCV002497336;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869523	97869523	9:g.97869523A>T	-
NM_000136.3(FANCC):c.1357C>T (p.Leu453Phe)	2176	FANCC	Uncertain significance	1064793901	RCV000486462\|RCV001273981\|RCV003298547;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97869524	97869524	9:g.97869524G>A	ClinGen:CA16618877	CN169374 not specified;
NM_000136.3(FANCC):c.1355A>G (p.His452Arg)	2176	FANCC	Conflicting interpretations of pathogenicity	1224625808	RCV001316820\|RCV002384400\|RCV002486246;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869526	97869526	97869526	-
NM_000136.3(FANCC):c.1333C>T (p.Gln445Ter)	2176	FANCC	Pathogenic/Likely pathogenic	1057516298	RCV000409733\|RCV000657572\|RCV001388954\|RCV002379264;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97869548	97869548	NC_000009.11:g.97869548G>A	ClinGen:CA16041339	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1330-3C>T	2176	FANCC	Benign/Likely benign	4647542	RCV000193376\|RCV000561408\|RCV000589933\|RCV001085632\|RCV001169819\|RCV001357537;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,M	9	97869554	97869554	NC_000009.11:g.97869554G>A	ClinGen:CA206827	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1330-6G>T	2176	FANCC	Likely benign	1223668739	RCV000611937\|RCV001274612\|RCV001434468;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97869557	97869557	9:g.97869557C>A	ClinGen:CA589580892	CN169374 not specified;
NM_000136.3(FANCC):c.1330-8T>C	2176	FANCC	Conflicting interpretations of pathogenicity	864622221	RCV000206510\|RCV000666867;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97869559	97869559	9:g.97869559A>G	ClinGen:CA350529	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1329+265T>G	2176	FANCC	Uncertain significance	1554829329	RCV000674090;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873480	97873480	9:g.97873480A>C	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1329+246del	2176	FANCC	Likely benign	542091036	RCV000668549\|RCV001358537;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN517202	9	97873499	97873499	9:g.97873499_97873499del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1329+238C>T	2176	FANCC	Likely benign	768988593	RCV000665191;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873507	97873507	9:g.97873507G>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1329+181_1329+183del	2176	FANCC	Conflicting interpretations of pathogenicity	587778328	RCV000120981\|RCV000665686\|RCV003407513;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|	9	97873562	97873564	9:g.97873562_97873564del	ClinGen:CA159417	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1329+175C>T	2176	FANCC	Benign	112446681	RCV000120982\|RCV001831912\|RCV003315754\|RCV003430675;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97873570	97873570	9:g.97873570G>A	ClinGen:CA159419	CN169374 not specified;
NM_000136.3(FANCC):c.1329+169C>T	2176	FANCC	Uncertain significance	1554829373	RCV000669004;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873576	97873576	9:g.97873576G>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1329+166_1329+168del	2176	FANCC	Uncertain significance	1554829374	RCV000668923;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873577	97873579	9:g.97873577_97873579del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1329+157C>T	2176	FANCC	Uncertain significance	1554829380	RCV000669327;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873588	97873588	9:g.97873588G>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1329+134del	2176	FANCC	Uncertain significance	1554829392	RCV000666090;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873611	97873611	9:g.97873611_97873611del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1329+115C>T	2176	FANCC	Uncertain significance	2071912393	RCV001294188;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873630	97873630	97873630	-
NM_000136.3(FANCC):c.1329+5del	2176	FANCC	Uncertain significance	878853670	RCV000226612\|RCV000673601;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873740	97873740	9:g.97873740_97873740del	ClinGen:CA10582663	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1329+1G>T	2176	FANCC	Likely pathogenic	1554829441	RCV000529278\|RCV001004548;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873744	97873744	9:g.97873744C>A	ClinGen:CA374107215	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1329+1del	2176	FANCC	Likely pathogenic	-1	RCV003460187;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873744	97873744		-
NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)	2176	FANCC	Uncertain significance	730881723	RCV000160487\|RCV001010936\|RCV001831981\|RCV002478484\|RCV003150957;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374	9	97873758	97873758	NC_000009.11:g.97873758C>T	ClinGen:CA299187	CN517202 not provided;
NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)	2176	FANCC	Uncertain significance	912537449	RCV001246013\|RCV001586088\|RCV002379941\|RCV002484373;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873764	97873764	9:g.97873764T>C	-
NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)	2176	FANCC	Pathogenic/Likely pathogenic	944083227	RCV000411906\|RCV000657680\|RCV002379265;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873765	97873765	9:g.97873765G>A	ClinGen:CA16041340	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1308del (p.Arg436fs)	2176	FANCC	Likely pathogenic	-1	RCV003468120;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873766	97873766		-
NM_000136.3(FANCC):c.1307G>A (p.Arg436Lys)	2176	FANCC	Uncertain significance	201549126	RCV001041975\|RCV001273982\|RCV002379504;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873767	97873767	9:g.97873767C>T	-
NM_000136.3(FANCC):c.1302dup (p.Gly435fs)	2176	FANCC	Pathogenic/Likely pathogenic	730881709	RCV000160468\|RCV000203768\|RCV000984265\|RCV002381527;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873771	97873772	NC_000009.11:g.97873772dup	ClinGen:CA299134	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)	2176	FANCC	Conflicting interpretations of pathogenicity	1588047887	RCV000808242\|RCV001274613\|RCV002381787;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873783	97873783	9:g.97873783C>T	-
NM_000136.3(FANCC):c.1290C>A (p.Tyr430Ter)	2176	FANCC	Pathogenic	766105286	RCV000205214\|RCV000409033;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873784	97873784	9:g.97873784G>T	ClinGen:CA349399	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1285TAC[1] (p.Tyr430del)	2176	FANCC	Uncertain significance	1210997135	RCV000565785\|RCV001273983\|RCV001853768;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97873784	97873786	NC_000009.11:g.97873785TAG[1]	ClinGen:CA589580888	C0027672 Hereditary cancer-predisposing syndrome;
NM_000136.3(FANCC):c.1283_1285del (p.Phe428del)	2176	FANCC	Uncertain significance	1588047930	RCV000809967\|RCV001010741\|RCV001273984;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873789	97873791	9:g.97873789_97873791del	-
NM_000136.3(FANCC):c.1281C>T (p.Ala427=)	2176	FANCC	Conflicting interpretations of pathogenicity	754604606	RCV000631015\|RCV001169820\|RCV001484609\|RCV002385981;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873793	97873793	NC_000009.11:g.97873793G>A	ClinGen:CA5137404	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1274T>C (p.Leu425Pro)	2176	FANCC	Uncertain significance	1588047966	RCV001010693\|RCV001274614;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873800	97873800	9:g.97873800A>G	-
NM_000136.3(FANCC):c.1271G>A (p.Trp424Ter)	2176	FANCC	Likely pathogenic	-1	RCV003468121;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873803	97873803		-
NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly)	2176	FANCC	Uncertain significance	863224608	RCV000197973\|RCV001010607\|RCV002485318;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873812	97873812	9:g.97873812G>C	ClinGen:CA337565	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1257dup (p.Thr420fs)	2176	FANCC	Pathogenic/Likely pathogenic	765551897	RCV000657293\|RCV000824456\|RCV002248850\|RCV003403514;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|	9	97873816	97873817	NC_000009.11:g.97873822dup	-	CN517202 not provided;
NM_000136.3(FANCC):c.1257del (p.Thr420fs)	2176	FANCC	Pathogenic	765551897	RCV000804708\|RCV000988203\|RCV003467405;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873817	97873817	9:g.97873817_97873817del	-
NM_000136.3(FANCC):c.1256C>G (p.Pro419Arg)	2176	FANCC	Uncertain significance	864622514	RCV000204965\|RCV001010361\|RCV001273986\|RCV003313058;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97873818	97873818	9:g.97873818G>C	ClinGen:CA349151	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1254C>T (p.Pro418=)	2176	FANCC	Likely benign	1057521431	RCV000417856\|RCV001273987\|RCV002062523\|RCV003168648;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873820	97873820	9:g.97873820G>A	ClinGen:CA16605742	CN169374 not specified;
NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser)	2176	FANCC	Uncertain significance	1284061457	RCV001961333\|RCV002423167\|RCV002492174;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873822	97873822	97873822	-
NM_000136.3(FANCC):c.1249G>A (p.Glu417Lys)	2176	FANCC	Uncertain significance	140687953	RCV000160486\|RCV000477242\|RCV000570128\|RCV001273988\|RCV001358089;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142	9	97873825	97873825	NC_000009.11:g.97873825C>T	ClinGen:CA299184	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)	2176	FANCC	Uncertain significance	550462055	RCV000485470\|RCV000570574\|RCV000630858\|RCV001274615\|RCV002222522;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374	9	97873830	97873830	9:g.97873830G>A	ClinGen:CA16618879	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1244C>A (p.Ala415Glu)	2176	FANCC	Conflicting interpretations of pathogenicity	550462055	RCV001237810\|RCV001278783\|RCV001356399\|RCV002393604;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873830	97873830	9:g.97873830G>T	-
NM_000136.3(FANCC):c.1241C>A (p.Ser414Ter)	2176	FANCC	Likely pathogenic	200719554	RCV000672089;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873833	97873833	9:g.97873833G>T	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)	2176	FANCC	Uncertain significance	200719554	RCV000808401\|RCV001010523\|RCV001273989\|RCV002298781;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97873833	97873833	9:g.97873833G>A	-
NM_000136.3(FANCC):c.1208G>A (p.Trp403Ter)	2176	FANCC	Likely pathogenic	2071939263	RCV001195057;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873866	97873866	9:g.97873866C>T	-
NM_000136.3(FANCC):c.1207T>C (p.Trp403Arg)	2176	FANCC	Uncertain significance	1554829543	RCV000664675;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873867	97873867	9:g.97873867A>G	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1201G>A (p.Gly401Arg)	2176	FANCC	Uncertain significance	730881722	RCV000160485\|RCV000630920\|RCV001273990\|RCV002345553;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873873	97873873	NC_000009.11:g.97873873C>T	ClinGen:CA299181	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1200dup (p.Gly401fs)	2176	FANCC	Pathogenic/Likely pathogenic	-1	RCV002608981\|RCV003465797;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873873	97873874	NC_000009.11:g.97873874dup	-
NM_000136.3(FANCC):c.1200C>T (p.Phe400=)	2176	FANCC	Likely benign	767215159	RCV000229080\|RCV001273991\|RCV002347858;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873874	97873874	9:g.97873874G>A	ClinGen:CA5137421	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1182G>A (p.Trp394Ter)	2176	FANCC	Likely pathogenic	1554829555	RCV000670114;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873892	97873892	9:g.97873892C>T	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1177_1178dup (p.Ser393fs)	2176	FANCC	Pathogenic/Likely pathogenic	1554829561	RCV000673448\|RCV001868271;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97873895	97873896	9:g.97873895_97873896insCT	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1162G>T (p.Gly388Ter)	2176	FANCC	Pathogenic/Likely pathogenic	371897078	RCV000202668\|RCV000409441\|RCV000526773\|RCV001010060;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97873912	97873912	9:g.97873912C>A	ClinGen:CA248867	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	2176	FANCC	Conflicting interpretations of pathogenicity	41281202	RCV000120969\|RCV000224016\|RCV000566496\|RCV000709083\|RCV000988205\|RCV001082314;	N	MedGen:CN169374\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,Med	9	97873918	97873918	9:g.97873918A>G	ClinGen:CA159387	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1155-1G>A	2176	FANCC	Likely pathogenic	1554829575	RCV000666931;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873920	97873920	9:g.97873920C>T	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1155-1G>C	2176	FANCC	Likely pathogenic	1554829575	RCV001195056\|RCV001859174\|RCV003238842;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN517202	9	97873920	97873920	9:g.97873920C>G	-
NC_000009.11:g.(97873920_97876910)_(97934430_98002930)dup	2176	FANCC	Likely pathogenic	-1	RCV002469946;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873920	98002930		-
NC_000009.11:g.(97873920_97876910)_(97879673_97887367)del	2176	FANCC	Likely pathogenic	-1	RCV003226637;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97873920	97887367		-
NM_000136.3(FANCC):c.1155-38T>C	2176	FANCC	Benign	4647534	RCV000250108\|RCV001532805\|RCV001723833\|RCV001833258;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97873957	97873957	9:g.97873957A>G	ClinGen:CA5137436	CN169374 not specified;
NM_000136.3(FANCC):c.1154+1del	2176	FANCC	Pathogenic	-1	RCV003460181;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97876910	97876910		-
NM_000136.3(FANCC):c.1151_1152del (p.His384fs)	2176	FANCC	Likely pathogenic	1554830220	RCV000671011;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97876913	97876914	9:g.97876913_97876914del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1151A>G (p.His384Arg)	2176	FANCC	Uncertain significance	577302082	RCV001009996\|RCV001273992\|RCV001732012\|RCV001860622;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97876914	97876914	9:g.97876914T>C	-
NM_000136.3(FANCC):c.1146G>C (p.Gln382His)	2176	FANCC	Uncertain significance	770809637	RCV000542270\|RCV001274616\|RCV002456046;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97876919	97876919	9:g.97876919C>G	ClinGen:CA5137452	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1144del (p.Gln382fs)	2176	FANCC	Likely pathogenic	1057516313	RCV000412286;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97876921	97876921	NC_000009.11:g.97876922del	ClinGen:CA16041341	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1136T>C (p.Val379Ala)	2176	FANCC	Uncertain significance	745693332	RCV001296848\|RCV002447269\|RCV002504436;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97876929	97876929	97876929	-
NM_000136.3(FANCC):c.1103_1104del (p.Leu368fs)	2176	FANCC	Pathogenic/Likely pathogenic	1057516919	RCV000410408\|RCV002523864;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97876961	97876962	9:g.97876961_97876962del	ClinGen:CA16041342	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1092G>A (p.Trp364Ter)	2176	FANCC	Likely pathogenic	-1	RCV003460184;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97876973	97876973		-
NM_000136.3(FANCC):c.1084G>T (p.Gly362Ter)	2176	FANCC	Likely pathogenic	2072245226	RCV001264297;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97876981	97876981	9:g.97876981C>A	-
NM_000136.3(FANCC):c.1079C>T (p.Pro360Leu)	2176	FANCC	Uncertain significance	730881721	RCV000160484\|RCV001273993\|RCV002516430\|RCV002415702;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97876986	97876986	NC_000009.11:g.97876986G>A	ClinGen:CA299178	CN169374 not specified;
NM_000136.3(FANCC):c.1073-1G>C	2176	FANCC	Pathogenic/Likely pathogenic	1554830249	RCV000670553\|RCV001868245;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97876993	97876993	9:g.97876993C>G	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1073-4G>A	2176	FANCC	Conflicting interpretations of pathogenicity	147695697	RCV000231256\|RCV000562007\|RCV000666029\|RCV001467053;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97876996	97876996	NC_000009.11:g.97876996C>T	ClinGen:CA5137463	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1073-5C>T	2176	FANCC	Conflicting interpretations of pathogenicity	375613884	RCV000124968\|RCV000380041\|RCV000568936\|RCV001095360;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97876997	97876997	9:g.97876997G>A	ClinGen:CA290822	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1072+1G>A	2176	FANCC	Likely pathogenic	1554830789	RCV000674613\|RCV002531358;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97879596	97879596	9:g.97879596C>T	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1071A>G (p.Gln357=)	2176	FANCC	Conflicting interpretations of pathogenicity	1057522128	RCV000431526\|RCV001273994\|RCV002418291;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97879598	97879598	9:g.97879598T>C	ClinGen:CA16605898	CN169374 not specified;
NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	2176	FANCC	Pathogenic/Likely pathogenic	759900071	RCV000483955\|RCV000984263\|RCV001035863\|RCV002413322;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97879600	97879600	9:g.97879600G>A	ClinGen:CA5137481	CN517202 not provided;
NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)	2176	FANCC	Uncertain significance	759900071	RCV000709084\|RCV000988207\|RCV001017185\|RCV001825407;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650,Orpha	9	97879600	97879600	9:g.97879600G>C	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1067C>A (p.Pro356His)	2176	FANCC	Uncertain significance	1060502517	RCV000460007\|RCV002489057\|RCV003168814;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97879602	97879602	NC_000009.11:g.97879602G>T	ClinGen:CA16612891	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1048A>G (p.Met350Val)	2176	FANCC	Conflicting interpretations of pathogenicity	863224607	RCV000195408\|RCV001017074\|RCV001292900\|RCV001546836\|RCV002282033;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374	9	97879621	97879621	9:g.97879621T>C	ClinGen:CA335659	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1037dup (p.Ser347fs)	2176	FANCC	Likely pathogenic	1057516248	RCV000409572;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97879631	97879632	NC_000009.11:g.97879633dup	ClinGen:CA16041343	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.1029C>A (p.Tyr343Ter)	2176	FANCC	Likely pathogenic	2072504418	RCV001264298;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97879640	97879640	9:g.97879640G>T	-
NM_000136.3(FANCC):c.1029C>G (p.Tyr343Ter)	2176	FANCC	Likely pathogenic	-1	RCV002309751;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97879640	97879640	97879640	-
NM_000136.3(FANCC):c.1023T>C (p.Phe341=)	2176	FANCC	Likely benign	758439579	RCV000631004\|RCV001017047\|RCV001273995;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97879646	97879646	NC_000009.11:g.97879646A>G	ClinGen:CA466096181	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1019A>G (p.Tyr340Cys)	2176	FANCC	Uncertain significance	746828156	RCV000534368\|RCV001273996\|RCV002266982\|RCV002367772;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97879650	97879650	NC_000009.11:g.97879650T>C	ClinGen:CA5137488	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.1002del (p.Phe335fs)	2176	FANCC	Pathogenic	2134694075	RCV001783249;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97879667	97879667	97879666	-
NM_000136.3(FANCC):c.1000C>T (p.Arg334Trp)	2176	FANCC	Conflicting interpretations of pathogenicity	140348260	RCV000195976\|RCV000486496\|RCV001009657\|RCV001354801\|RCV001818484;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374	9	97879669	97879669	9:g.97879669G>A	ClinGen:CA336089	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.998T>C (p.Leu333Pro)	2176	FANCC	Uncertain significance	864622191	RCV000204426\|RCV001019959\|RCV001333238;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97879671	97879671	9:g.97879671A>G	ClinGen:CA348656	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.996+9T>A	2176	FANCC	Likely benign	757984397	RCV001274617\|RCV001492230;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97887359	97887359	9:g.97887359A>T	-
NM_000136.3(FANCC):c.996+6T>C	2176	FANCC	Uncertain significance	200934877	RCV001241546\|RCV002293516\|RCV002484326;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887362	97887362	9:g.97887362A>G	-
NM_000136.3(FANCC):c.996+1_996+2insGA	2176	FANCC	Likely pathogenic	1825770738	RCV001221372\|RCV002379836\|RCV003469381;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887366	97887367	9:g.97887366_97887367insCT	-
NM_000136.3(FANCC):c.996+1G>T	2176	FANCC	Pathogenic/Likely pathogenic	370510954	RCV000254963\|RCV000412116\|RCV000458747\|RCV000574838;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97887367	97887367	9:g.97887367C>A	ClinGen:CA5137571	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.996+1G>A	2176	FANCC	Likely pathogenic	370510954	RCV000671064\|RCV003303098\|RCV002532107;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97887367	97887367	9:g.97887367C>T	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.996G>A (p.Gln332=)	2176	FANCC	Likely pathogenic	1825770865	RCV001195052;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887368	97887368	9:g.97887368C>T	-
NM_000136.3(FANCC):c.993G>A (p.Lys331=)	2176	FANCC	Likely benign	748582850	RCV000205627\|RCV000608632\|RCV001019916\|RCV001274464;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887371	97887371	9:g.97887371C>T	ClinGen:CA349758	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.992A>G (p.Lys331Arg)	2176	FANCC	Uncertain significance	756408779	RCV000203726\|RCV001274465\|RCV002381707;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97887372	97887372	9:g.97887372T>C	ClinGen:CA348026	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.990C>G (p.Ser330Arg)	2176	FANCC	Uncertain significance	374915316	RCV000481385\|RCV000630962\|RCV001019882\|RCV002475940;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887374	97887374	9:g.97887374G>C	ClinGen:CA5137573	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.990C>A (p.Ser330Arg)	2176	FANCC	Uncertain significance	374915316	RCV000538115\|RCV002384042\|RCV002483354;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887374	97887374	9:g.97887374G>T	ClinGen:CA374108746	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.974C>T (p.Ala325Val)	2176	FANCC	Uncertain significance	367618818	RCV000115365\|RCV000630831\|RCV001019698\|RCV001818269\|RCV002483186;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887390	97887390	9:g.97887390G>A	ClinGen:CA287242	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr)	2176	FANCC	Benign/Likely benign	201407189	RCV000115364\|RCV000197125\|RCV000575554\|RCV001169821\|RCV001355026;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97887391	97887391	9:g.97887391C>T	ClinGen:CA287239	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.958C>T (p.Gln320Ter)	2176	FANCC	Pathogenic/Likely pathogenic	1825775052	RCV001045963\|RCV002379526\|RCV003462534;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887406	97887406	9:g.97887406G>A	-
NM_000136.3(FANCC):c.957G>A (p.Thr319=)	2176	FANCC	Likely benign	1060504647	RCV000457234\|RCV001019507\|RCV001274466\|RCV001721536;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97887407	97887407	NC_000009.11:g.97887407C>T	ClinGen:CA16612809	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.956C>T (p.Thr319Met)	2176	FANCC	Uncertain significance	745910444	RCV000824523\|RCV001274467\|RCV001759625\|RCV002372363;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97887408	97887408	9:g.97887408G>A	-
NM_000136.3(FANCC):c.950T>G (p.Val317Gly)	2176	FANCC	Uncertain significance	1438781491	RCV000569944\|RCV001274468;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887414	97887414	9:g.97887414A>C	ClinGen:CA374108899	C0027672 Hereditary cancer-predisposing syndrome;
NM_000136.3(FANCC):c.948G>C (p.Gln316His)	2176	FANCC	Uncertain significance	1554832851	RCV000519645\|RCV001274469\|RCV003159667;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97887416	97887416	9:g.97887416C>G	ClinGen:CA374108908	CN169374 not specified;
NM_000136.3(FANCC):c.941_943dup (p.Thr314dup)	2176	FANCC	Uncertain significance	1554832862	RCV000666854;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887420	97887421	9:g.97887420_97887421insTAG	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	2176	FANCC	Conflicting interpretations of pathogenicity	1800366	RCV000196771\|RCV000572525\|RCV000709085\|RCV000988209\|RCV001195051\|RCV001818268;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650,Orpha	9	97887430	97887430	9:g.97887430T>C	ClinGen:CA287233,UniProtKB:Q00597#VAR_005229	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.917A>T (p.Asp306Val)	2176	FANCC	Uncertain significance	1383010376	RCV001593351\|RCV002476895\|RCV002370231;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97887447	97887447	97887447	-
NM_000136.3(FANCC):c.916G>A (p.Asp306Asn)	2176	FANCC	Uncertain significance	772992002	RCV000559515\|RCV001018955\|RCV001274470;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887448	97887448	NC_000009.11:g.97887448C>T	ClinGen:CA5137580	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.915C>T (p.Thr305=)	2176	FANCC	Benign/Likely benign	138132690	RCV000206634\|RCV001018930\|RCV001274471\|RCV001723776;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97887449	97887449	9:g.97887449G>A	ClinGen:CA350645	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.907del (p.Leu303fs)	2176	FANCC	Likely pathogenic	-1	RCV003460186;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887457	97887457		-
NM_000136.3(FANCC):c.906C>G (p.Leu302=)	2176	FANCC	Likely benign	766079351	RCV000430981\|RCV000471086\|RCV001018770\|RCV001274472;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887458	97887458	9:g.97887458G>C	ClinGen:CA5137581	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.901G>A (p.Ala301Thr)	2176	FANCC	Uncertain significance	972738983	RCV001018661\|RCV001052684\|RCV001274473\|RCV001819730;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374	9	97887463	97887463	9:g.97887463C>T	-
NM_000136.3(FANCC):c.897-1G>A	2176	FANCC	Likely pathogenic	1588101086	RCV001004549;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97887468	97887468	9:g.97887468C>T	-
NM_000136.3(FANCC):c.897-8T>C	2176	FANCC	Conflicting interpretations of pathogenicity	878853673	RCV000227769\|RCV000665770\|RCV001722207;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97887475	97887475	NC_000009.11:g.97887475A>G	ClinGen:CA10582668	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.896+14T>C	2176	FANCC	Likely benign	2134966492	RCV002098552\|RCV002507976;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97888797	97888797	97888797	-
NM_000136.3(FANCC):c.889A>T (p.Met297Leu)	2176	FANCC	Uncertain significance	730881719	RCV000160482\|RCV002254685\|RCV002372043\|RCV001826860;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97888818	97888818	NC_000009.11:g.97888818T>A	ClinGen:CA299172	CN517202 not provided;
NM_000136.3(FANCC):c.883dup (p.Asp295fs)	2176	FANCC	Pathogenic/Likely pathogenic	1826007748	RCV001208956\|RCV003462699;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97888823	97888824	9:g.97888823_97888824insC	-
NM_000136.3(FANCC):c.875G>A (p.Arg292Gln)	2176	FANCC	Uncertain significance	747060782	RCV000204197\|RCV000214971\|RCV001018284\|RCV002485337;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97888832	97888832	9:g.97888832C>T	ClinGen:CA348436	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)	2176	FANCC	Uncertain significance	769649289	RCV000709086\|RCV002369978\|RCV003117511;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97888836	97888836	9:g.97888836A>G	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.851C>T (p.Ala284Val)	2176	FANCC	Uncertain significance	201281511	RCV000658080\|RCV000814395\|RCV001274474\|RCV001816657\|RCV002406500;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97888856	97888856	NC_000009.11:g.97888856G>A	-	CN517202 not provided;
NM_000136.3(FANCC):c.844-1G>C	2176	FANCC	Pathogenic/Likely pathogenic	774209201	RCV000169449\|RCV000224795\|RCV000462508\|RCV001017779\|RCV003398868;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	9	97888864	97888864	9:g.97888864C>G	ClinGen:CA274324	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.844-10_844-8del	2176	FANCC	Conflicting interpretations of pathogenicity	758617953	RCV000206232\|RCV000670094\|RCV000988210;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	97888871	97888873	9:g.97888871_97888873del	ClinGen:CA350294	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.843+12G>A	2176	FANCC	Likely benign	2135164340	RCV002081570\|RCV002500107;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897616	97897616	97897616	-
NM_000136.3(FANCC):c.843+5G>A	2176	FANCC	Conflicting interpretations of pathogenicity	369082921	RCV000200370\|RCV000486099\|RCV000666113\|RCV001017767\|RCV002509295;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	9	97897623	97897623	NC_000009.11:g.97897623C>T	ClinGen:CA339272	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.843+4C>T	2176	FANCC	Benign/Likely benign	4647506	RCV000206886\|RCV000224721\|RCV000568730\|RCV001095298\|RCV001356265\|RCV001729458;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|M	9	97897624	97897624	9:g.97897624G>A	ClinGen:CA350870	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.843+1G>A	2176	FANCC	Pathogenic/Likely pathogenic	587779909	RCV000204814\|RCV000410480\|RCV001356332\|RCV002444565;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97897627	97897627	9:g.97897627C>T	ClinGen:CA287232	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.843+1G>C	2176	FANCC	Likely pathogenic	587779909	RCV000673380\|RCV001861820;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97897627	97897627	9:g.97897627C>G	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.839C>T (p.Ser280Leu)	2176	FANCC	Conflicting interpretations of pathogenicity	749230615	RCV000484866\|RCV000709087\|RCV000988211\|RCV001017686\|RCV001243848\|RCV003409651;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMI	9	97897632	97897632	9:g.97897632G>A	ClinGen:CA5137627	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.836C>G (p.Ser279Ter)	2176	FANCC	Likely pathogenic	-1	RCV003460188;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897635	97897635		-
NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)	2176	FANCC	Uncertain significance	757190154	RCV000630830\|RCV001274476\|RCV001766341\|RCV002469224\|RCV002438645;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97897636	97897636	NC_000009.11:g.97897636A>T	ClinGen:CA5137628	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.831del (p.Asp278fs)	2176	FANCC	Likely pathogenic	1057516792	RCV000410893;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897640	97897640	9:g.97897640_97897640del	ClinGen:CA16041344	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.823T>C (p.Phe275Leu)	2176	FANCC	Uncertain significance	745621828	RCV000204906\|RCV000485118\|RCV000572325\|RCV002500646;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897648	97897648	NC_000009.11:g.97897648A>G	ClinGen:CA349095	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.822C>A (p.Cys274Ter)	2176	FANCC	Likely pathogenic	-1	RCV002306615;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897649	97897649	97897649	-
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)	2176	FANCC	Conflicting interpretations of pathogenicity	143181565	RCV000160481\|RCV000571755\|RCV000709088\|RCV000988212\|RCV001085038\|RCV001194155\|RCV001355168;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMI	9	97897654	97897654	9:g.97897654C>T	ClinGen:CA299169	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.816C>T (p.Ile272=)	2176	FANCC	Benign/Likely benign	55719336	RCV000124965\|RCV000203994\|RCV000563129\|RCV000588252\|RCV001095299;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897655	97897655	9:g.97897655G>A	ClinGen:CA290815	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.808A>T (p.Arg270Ter)	2176	FANCC	Likely pathogenic	776054094	RCV000484266\|RCV000984174\|RCV001835813;	N	MedGen:CN517202\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97897663	97897663	9:g.97897663T>A	ClinGen:CA5137632	CN517202 not provided;
NM_000136.3(FANCC):c.802T>A (p.Cys268Ser)	2176	FANCC	Uncertain significance	730881718	RCV000160480\|RCV000459016\|RCV001027088\|RCV001274477;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897669	97897669	NC_000009.11:g.97897669A>T	ClinGen:CA299166	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.800A>G (p.Asn267Ser)	2176	FANCC	Uncertain significance	200854639	RCV000160479\|RCV000233995\|RCV000562231\|RCV001274478;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897671	97897671	NC_000009.11:g.97897671T>C	ClinGen:CA299163	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.793G>T (p.Glu265Ter)	2176	FANCC	Likely pathogenic	1827526425	RCV001264299;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897678	97897678	9:g.97897678C>A	-
NM_000136.3(FANCC):c.767A>G (p.His256Arg)	2176	FANCC	Uncertain significance	730881716	RCV000205450\|RCV000513268\|RCV000571601\|RCV001276590;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897704	97897704	NC_000009.11:g.97897704T>C	ClinGen:CA299157	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.760A>G (p.Met254Val)	2176	FANCC	Uncertain significance	757294568	RCV000231342\|RCV001026618\|RCV001274479\|RCV001354988\|RCV001551720;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|MedGen:C3661900	9	97897711	97897711	NC_000009.11:g.97897711T>C	ClinGen:CA5137637	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.745_749del (p.Pro248_Ser249insTer)	2176	FANCC	Likely pathogenic	-1	RCV003460185;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897722	97897726		-
NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)	2176	FANCC	Uncertain significance	778966663	RCV000221352\|RCV000630840\|RCV001026491\|RCV001274480\|RCV001797687;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374	9	97897723	97897723	9:g.97897723G>T	ClinGen:CA5137638	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.745A>G (p.Ser249Gly)	2176	FANCC	Uncertain significance	539583288	RCV000484872\|RCV000803094\|RCV001026459\|RCV001274481;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897726	97897726	NC_000009.11:g.97897726T>C	ClinGen:CA5137639	CN517202 not provided;
NM_000136.3(FANCC):c.739C>T (p.Leu247Phe)	2176	FANCC	Uncertain significance	1554835099	RCV000522448\|RCV001026382\|RCV001198452\|RCV001857936;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97897732	97897732	9:g.97897732G>A	ClinGen:CA374109391	CN169374 not specified;
NM_000136.3(FANCC):c.734G>A (p.Arg245Gln)	2176	FANCC	Uncertain significance	889715188	RCV001313289\|RCV002384390\|RCV002493637;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897737	97897737	97897737	-
NM_000136.3(FANCC):c.733C>T (p.Arg245Trp)	2176	FANCC	Uncertain significance	571548182	RCV000204215\|RCV000487303\|RCV001026293\|RCV002500647;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897738	97897738	9:g.97897738G>A	ClinGen:CA348449	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.729G>A (p.Trp243Ter)	2176	FANCC	Pathogenic	1588134571	RCV001026242\|RCV003461417;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897742	97897742	9:g.97897742C>T	-
NM_000136.3(FANCC):c.705C>T (p.Pro235=)	2176	FANCC	Conflicting interpretations of pathogenicity	141828876	RCV000124964\|RCV000199490\|RCV000564470\|RCV001095300\|RCV001195050\|RCV001355936;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0007254,M	9	97897766	97897766	9:g.97897766G>A	ClinGen:CA290812	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.705del (p.Met236fs)	2176	FANCC	Pathogenic/Likely pathogenic	2135168243	RCV001872257\|RCV003464174;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897766	97897766	97897765	-
NM_000136.3(FANCC):c.700C>G (p.Leu234Val)	2176	FANCC	Uncertain significance	1827537458	RCV001165845\|RCV001859070\|RCV002365813;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97897771	97897771	9:g.97897771G>C	-
NM_000136.3(FANCC):c.687-15A>C	2176	FANCC	Benign/Likely benign	765327075	RCV000428173\|RCV002061387\|RCV002502471;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97897799	97897799	9:g.97897799T>G	ClinGen:CA5137653	CN169374 not specified;
NM_000136.3(FANCC):c.686+1G>T	2176	FANCC	Likely pathogenic	1057517125	RCV000409465\|RCV002523870;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97912204	97912204	9:g.97912204C>A	ClinGen:CA16041345	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.686+1G>C	2176	FANCC	Likely pathogenic	1057517125	RCV001025741\|RCV003461410;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912204	97912204	9:g.97912204C>G	-
NM_000136.3(FANCC):c.683dup (p.Leu228fs)	2176	FANCC	Likely pathogenic	-1	RCV002308026;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912207	97912208	97912207	-
NM_000136.3(FANCC):c.677C>T (p.Ala226Val)	2176	FANCC	Uncertain significance	1166491683	RCV001025636\|RCV001274483;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912214	97912214	9:g.97912214G>A	-
NM_000136.3(FANCC):c.673G>A (p.Glu225Lys)	2176	FANCC	Uncertain significance	374176091	RCV000530540\|RCV002377001\|RCV002476093\|RCV003148776;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97912218	97912218	9:g.97912218C>T	ClinGen:CA5137673	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.673G>T (p.Glu225Ter)	2176	FANCC	Pathogenic	374176091	RCV001004550\|RCV001216645\|RCV002372728;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97912218	97912218	9:g.97912218C>A	-
NM_000136.3(FANCC):c.672C>T (p.Asn224=)	2176	FANCC	Conflicting interpretations of pathogenicity	150647141	RCV000124963\|RCV000227447\|RCV000566669\|RCV001165846\|RCV001356398;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142	9	97912219	97912219	9:g.97912219G>A	ClinGen:CA290809	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.668T>C (p.Val223Ala)	2176	FANCC	Conflicting interpretations of pathogenicity	751410815	RCV000196637\|RCV000709089\|RCV001025536\|RCV001818486\|RCV002478703;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MedGen:C3661900	9	97912223	97912223	9:g.97912223A>G	ClinGen:CA336594	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.665C>A (p.Ala222Asp)	2176	FANCC	Uncertain significance	1830058618	RCV001278784\|RCV002258178\|RCV002366102;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97912226	97912226	9:g.97912226G>T	-
NM_000136.3(FANCC):c.662del (p.Glu221fs)	2176	FANCC	Pathogenic	1830058898	RCV001195047;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912229	97912229	9:g.97912229_97912229del	-
NM_000136.3(FANCC):c.661G>T (p.Glu221Ter)	2176	FANCC	Likely pathogenic	1830059125	RCV001264300;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912230	97912230	9:g.97912230C>A	-
NM_000136.3(FANCC):c.652G>C (p.Glu218Gln)	2176	FANCC	Uncertain significance	752339229	RCV000552262\|RCV001025378\|RCV002483353;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912239	97912239	9:g.97912239C>G	ClinGen:CA5137677	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.643C>T (p.Leu215Phe)	2176	FANCC	Uncertain significance	1269365165	RCV001836608;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912248	97912248	97912248	-
NM_000136.3(FANCC):c.640dup (p.Ile214fs)	2176	FANCC	Likely pathogenic	1057517203	RCV000409673;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912250	97912251	NC_000009.11:g.97912253dup	ClinGen:CA16041346	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	2176	FANCC	Conflicting interpretations of pathogenicity	140781259	RCV000120979\|RCV000200372\|RCV000570280\|RCV000709090\|RCV000988214\|RCV001195037\|RCV001356599;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,O	9	97912259	97912259	9:g.97912259G>C	ClinGen:CA159411	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.626G>A (p.Arg209His)	2176	FANCC	Conflicting interpretations of pathogenicity	587778327	RCV000168381\|RCV000482249\|RCV001025063\|RCV003144145;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912265	97912265	9:g.97912265C>T	ClinGen:CA334694	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.625C>T (p.Arg209Cys)	2176	FANCC	Uncertain significance	373270404	RCV000485594\|RCV000541774\|RCV001274484\|RCV002367626;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97912266	97912266	9:g.97912266G>A	ClinGen:CA5137681	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.620A>T (p.His207Leu)	2176	FANCC	Uncertain significance	202038890	RCV000469377\|RCV000480838\|RCV000766067\|RCV002365644;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97912271	97912271	NC_000009.11:g.97912271T>A	ClinGen:CA5137683	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.609C>T (p.Leu203=)	2176	FANCC	Conflicting interpretations of pathogenicity	567226063	RCV000205246\|RCV000443939\|RCV001024894\|RCV001165847\|RCV001354745;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97912282	97912282	NC_000009.11:g.97912282G>A	ClinGen:CA349426	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.596T>C (p.Leu199Pro)	2176	FANCC	Uncertain significance	143213659	RCV001058577\|RCV001274486\|RCV002355057;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97912295	97912295	9:g.97912295A>G	-
NM_000136.3(FANCC):c.591C>A (p.Asp197Glu)	2176	FANCC	Uncertain significance	-1	RCV003221315;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912300	97912300		-
NM_000136.3(FANCC):c.590A>T (p.Asp197Val)	2176	FANCC	Uncertain significance	1064793625	RCV000479725\|RCV002356770\|RCV002481504;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912301	97912301	9:g.97912301T>A	ClinGen:CA16618887	CN169374 not specified;
NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	2176	FANCC	Conflicting interpretations of pathogenicity	1800365	RCV000120978\|RCV000124962\|RCV000179716\|RCV000667368\|RCV000988215\|RCV001083500\|RCV001356570;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,Med	9	97912307	97912307	9:g.97912307T>A	ClinGen:CA247025,UniProtKB:Q00597#VAR_005228	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.583G>C (p.Asp195His)	2176	FANCC	Uncertain significance	774140528	RCV001293974\|RCV001773597\|RCV002357076;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97912308	97912308	97912308	-
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)	2176	FANCC	Uncertain significance	767302089	RCV000694021\|RCV001024462\|RCV001274487\|RCV002509515;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374	9	97912319	97912319	9:g.97912319A>G	-	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)	2176	FANCC	Uncertain significance	1800364	RCV001195036\|RCV001863080\|RCV002348642\|RCV002480644\|RCV003235490;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374	9	97912323	97912323	9:g.97912323G>A	-
NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)	2176	FANCC	Uncertain significance	377620735	RCV000200314\|RCV001276454\|RCV002271459\|RCV002345716;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97912326	97912326	9:g.97912326G>C	ClinGen:CA339230	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.565C>A (p.Pro189Thr)	2176	FANCC	Uncertain significance	377620735	RCV001024376\|RCV001276455\|RCV001862286;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97912326	97912326	9:g.97912326G>T	-
NM_000136.3(FANCC):c.558_563del (p.Cys187_Val188del)	2176	FANCC	Uncertain significance	1554838595	RCV000667909;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912328	97912333	9:g.97912328_97912333del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.560del (p.Cys187fs)	2176	FANCC	Likely pathogenic	-1	RCV002307172;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912331	97912331	97912330	-
NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)	2176	FANCC	Pathogenic	121917783	RCV000012824\|RCV000115356\|RCV000471314\|RCV000568180\|RCV001356657;	Y	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	9	97912338	97912338	9:g.97912338G>A	ClinGen:CA287223,OMIM:613899.0002	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.547del (p.Leu183fs)	2176	FANCC	Likely pathogenic	-1	RCV003468119;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912344	97912344		-
NM_000136.3(FANCC):c.542C>T (p.Ala181Val)	2176	FANCC	Uncertain significance	182879858	RCV000115355\|RCV000204580\|RCV001024091\|RCV001167421;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912349	97912349	9:g.97912349G>A	ClinGen:CA287220	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.536G>A (p.Arg179Gln)	2176	FANCC	Conflicting interpretations of pathogenicity	538875706	RCV000567484\|RCV000630855\|RCV001788294\|RCV002476246;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912355	97912355	NC_000009.11:g.97912355C>T	ClinGen:CA5137696	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	2176	FANCC	Pathogenic/Likely pathogenic	769039987	RCV000224844\|RCV000704130\|RCV000984264\|RCV001023972;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97912356	97912356	9:g.97912356G>A	ClinGen:CA5137697	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.532G>A (p.Glu178Lys)	2176	FANCC	Uncertain significance	554302947	RCV000482270\|RCV000548500\|RCV001023937\|RCV001276456;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912359	97912359	9:g.97912359C>T	ClinGen:CA5137699	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.522-1G>C	2176	FANCC	Likely pathogenic	1014112491	RCV001023758\|RCV001068005\|RCV002479219\|RCV003311932;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97912370	97912370	9:g.97912370C>G	-
NM_000136.3(FANCC):c.522-4A>G	2176	FANCC	Conflicting interpretations of pathogenicity	371422485	RCV000160501\|RCV000200491\|RCV000561641\|RCV000665085;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97912373	97912373	NC_000009.11:g.97912373T>C	ClinGen:CA299222	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.521+109A>G	2176	FANCC	Benign	3737142	RCV001532806\|RCV001615248;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97933252	97933252	97933252	-
NM_000136.3(FANCC):c.521+1G>A	2176	FANCC	Pathogenic/Likely pathogenic	145394391	RCV000230742\|RCV000780230\|RCV001023734\|RCV003229824;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	9	97933360	97933360	NC_000009.11:g.97933360C>T	ClinGen:CA10582670	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.521G>A (p.Arg174Gln)	2176	FANCC	Uncertain significance	755283850	RCV000466061\|RCV001023751\|RCV002244938\|RCV002481439;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97933361	97933361	NC_000009.11:g.97933361C>T	ClinGen:CA5137714	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.520C>T (p.Arg174Ter)	2176	FANCC	Pathogenic/Likely pathogenic	781542763	RCV000169411\|RCV001213440\|RCV002345568\|RCV003441768;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900	9	97933362	97933362	9:g.97933362G>A	ClinGen:CA274274	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.519del (p.Arg173fs)	2176	FANCC	Pathogenic	1564719070	RCV000709091\|RCV000988217;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84	9	97933363	97933363	9:g.97933363_97933363del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.516A>G (p.Gln172=)	2176	FANCC	Likely benign	748322179	RCV000442930\|RCV001023648\|RCV001276593\|RCV001851039;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97933366	97933366	9:g.97933366T>C	ClinGen:CA5137715	CN169374 not specified;
NM_000136.3(FANCC):c.514C>T (p.Gln172Ter)	2176	FANCC	Likely pathogenic	-1	RCV002281839;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97933368	97933368	97933368	-
NM_000136.3(FANCC):c.509A>G (p.Asn170Ser)	2176	FANCC	Uncertain significance	749322338	RCV000467727\|RCV001276457\|RCV001560667\|RCV002339166;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97933373	97933373	NC_000009.11:g.97933373T>C	ClinGen:CA5137718	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.507del (p.Phe169fs)	2176	FANCC	Pathogenic/Likely pathogenic	1588218493	RCV000804363\|RCV002336630\|RCV003467402;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97933375	97933375	9:g.97933375_97933375del	-
NM_000136.3(FANCC):c.491A>C (p.Asn164Thr)	2176	FANCC	Uncertain significance	950623649	RCV001732365\|RCV002343807\|RCV002488492\|RCV002539805;	N	MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97933391	97933391	97933391	-
NM_000136.3(FANCC):c.487_490del (p.Glu163fs)	2176	FANCC	Pathogenic/Likely pathogenic	730881708	RCV000160466\|RCV000410607\|RCV000528984\|RCV001023180;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97933392	97933395	NC_000009.11:g.97933393CT[1]	ClinGen:CA299130	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.489_490del (p.Asn164fs)	2176	FANCC	Pathogenic/Likely pathogenic	730881708	RCV000198724\|RCV000984173\|RCV002336539;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97933392	97933393	NC_000009.11:g.97933393_97933394CT[2]	ClinGen:CA338142	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.467del (p.Ser156fs)	2176	FANCC	Pathogenic	1825652623	RCV001195035;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97933415	97933415	9:g.97933415_97933415del	-
NM_000136.3(FANCC):c.464T>A (p.Leu155Ter)	2176	FANCC	Likely pathogenic	1825652774	RCV001264301;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97933418	97933418	9:g.97933418A>T	-
NM_000136.3(FANCC):c.460del (p.Val154fs)	2176	FANCC	Pathogenic/Likely pathogenic	1825653076	RCV001386565\|RCV002476730;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97933422	97933422	97933421	-
NM_000136.3(FANCC):c.457-1G>T	2176	FANCC	Likely pathogenic	1057516917	RCV000410360\|RCV001377492;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97933426	97933426	9:g.97933426C>A	ClinGen:CA16041347	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.457-2A>G	2176	FANCC	Likely pathogenic	-1	RCV003460183;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97933427	97933427		-
NM_000136.3(FANCC):c.457-7T>C	2176	FANCC	Conflicting interpretations of pathogenicity	749994612	RCV000227550\|RCV000441644\|RCV000669135\|RCV001355792;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142	9	97933432	97933432	NC_000009.11:g.97933432A>G	ClinGen:CA5137727	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.457-18A>G	2176	FANCC	Benign/Likely benign	377206543	RCV000160500\|RCV001826862\|RCV002478485;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97933443	97933443	NC_000009.11:g.97933443T>C	ClinGen:CA299221	CN169374 not specified;
NM_000136.3(FANCC):c.456+4A>T	2176	FANCC	Pathogenic	104886456	RCV000012825\|RCV000115354\|RCV000197192\|RCV000562912\|RCV001358012;	Y	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0007254,MedGen:C0006142	9	97934315	97934315	9:g.97934315T>A	ClinGen:CA287219,OMIM:613899.0003	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.455dup (p.Asn152fs)	2176	FANCC	Pathogenic	774170058	RCV000465895\|RCV000482020\|RCV000590358\|RCV001022696;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97934319	97934320	NC_000009.11:g.97934324dup	ClinGen:CA5137745	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.440C>T (p.Pro147Leu)	2176	FANCC	Uncertain significance	730881711	RCV000160470\|RCV000205386\|RCV001167422\|RCV002326920;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97934335	97934335	NC_000009.11:g.97934335G>A	ClinGen:CA299136	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.439C>A (p.Pro147Thr)	2176	FANCC	Uncertain significance	1564720334	RCV001022419\|RCV001276459;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934336	97934336	9:g.97934336G>T	-
NM_000136.3(FANCC):c.438T>C (p.Tyr146=)	2176	FANCC	Conflicting interpretations of pathogenicity	765990832	RCV000205428\|RCV000570699\|RCV001167423\|RCV001705175\|RCV001818501;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374	9	97934337	97934337	NC_000009.11:g.97934337A>G	ClinGen:CA349588	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.436_438del (p.Tyr146del)	2176	FANCC	Conflicting interpretations of pathogenicity	761347179	RCV000550475\|RCV000566915\|RCV001276460\|RCV001821481\|RCV002254930;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	9	97934337	97934339	9:g.97934337_97934339del	ClinGen:CA5137747	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.413T>G (p.Leu138Arg)	2176	FANCC	Uncertain significance	1564720454	RCV000709092\|RCV001247684;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	97934362	97934362	NC_000009.11:g.97934362A>C	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.408A>G (p.Gln136=)	2176	FANCC	Benign	1800360	RCV000241551\|RCV000396417\|RCV000588429\|RCV000569297\|RCV001095333\|RCV001357182;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,M	9	97934367	97934367	9:g.97934367T>C	ClinGen:CA5137750	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.406C>T (p.Gln136Ter)	2176	FANCC	Likely pathogenic	-1	RCV003330195;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934369	97934369		-
NM_000136.3(FANCC):c.397C>T (p.Leu133Phe)	2176	FANCC	Uncertain significance	587779906	RCV000115353\|RCV000464178\|RCV001276461\|RCV002354291;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97934378	97934378	9:g.97934378G>A	ClinGen:CA287216	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)	2176	FANCC	Conflicting interpretations of pathogenicity	587779905	RCV000115352\|RCV000315029\|RCV000571052\|RCV000709093\|RCV000988219\|RCV001818267;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,O	9	97934380	97934380	9:g.97934380G>C	ClinGen:CA287213	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.391G>A (p.Val131Ile)	2176	FANCC	Uncertain significance	543546719	RCV001922120\|RCV002370437\|RCV003325237;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934384	97934384	97934384	-
NM_000136.3(FANCC):c.390A>T (p.Glu130Asp)	2176	FANCC	Uncertain significance	1419677503	RCV001021415\|RCV001051936\|RCV001293973;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934385	97934385	9:g.97934385T>A	-
NM_000136.3(FANCC):c.387_390del (p.Glu130fs)	2176	FANCC	Likely pathogenic	-1	RCV003460182;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934385	97934388		-
NM_000136.3(FANCC):c.377_378del (p.Arg126fs)	2176	FANCC	Pathogenic/Likely pathogenic	1564720637	RCV000781351\|RCV002535694\|RCV003432765;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900	9	97934397	97934398	NC_000009.11:g.97934398_97934399del	-
NM_000136.3(FANCC):c.371C>T (p.Ala124Val)	2176	FANCC	Uncertain significance	374602991	RCV000160472\|RCV000799139\|RCV001276594\|RCV002345551;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97934404	97934404	NC_000009.11:g.97934404G>A	ClinGen:CA299142	CN517202 not provided;
NM_000136.3(FANCC):c.364C>T (p.Leu122Phe)	2176	FANCC	Uncertain significance	1064796148	RCV000487162\|RCV001276462\|RCV002350075;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97934411	97934411	9:g.97934411G>A	ClinGen:CA16618891	CN169374 not specified;
NM_000136.3(FANCC):c.362_363del (p.Ile121fs)	2176	FANCC	Pathogenic/Likely pathogenic	1588220728	RCV001004551\|RCV002454254;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97934412	97934413	9:g.97934412_97934413del	-
NM_000136.3(FANCC):c.355_360delinsA (p.Ser119fs)	2176	FANCC	Pathogenic	587779904	RCV000115350\|RCV000229758\|RCV000590237\|RCV001020583;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97934415	97934420	9:g.97934416_97934420del	ClinGen:CA287209	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.356_360del (p.Ser119fs)	2176	FANCC	Pathogenic	1060499606	RCV000477851\|RCV001092276;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900	9	97934415	97934419	9:g.97934415_97934419del	ClinGen:CA16616912	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.357_358del (p.His120fs)	2176	FANCC	Pathogenic	1588220764	RCV001004336;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934417	97934418	9:g.97934417_97934418del	-
NM_000136.3(FANCC):c.353T>A (p.Leu118Ter)	2176	FANCC	Likely pathogenic	1825725461	RCV001263719;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934422	97934422	9:g.97934422A>T	-
NM_000136.3(FANCC):c.347G>A (p.Gly116Asp)	2176	FANCC	Uncertain significance	1282106098	RCV001047637\|RCV001276463\|RCV002293500\|RCV002451190;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	97934428	97934428	9:g.97934428C>T	-
NM_000136.3(FANCC):c.346-1G>A	2176	FANCC	Pathogenic/Likely pathogenic	1484503633	RCV000625771\|RCV001042914\|RCV001195046\|RCV002334038\|RCV003411478;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	9	97934430	97934430	NC_000009.11:g.97934430C>T	ClinGen:CA374338924	C3468041 227645 Fanconi anemia, complementation group C;
NC_000009.12:g.(95172148_95240648)_(95240744_95247431)del	2176	FANCC	Pathogenic	-1	RCV001195042;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934430	98009713	-1	-
NM_000136.3(FANCC):c.346-1G>C	2176	FANCC	Likely pathogenic	-1	RCV003468122;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	97934430	97934430		-
NM_000136.3(FANCC):c.345+4AG[2]	2176	FANCC	Conflicting interpretations of pathogenicity	755657969	RCV000487298\|RCV000727370\|RCV000988220\|RCV001080936\|RCV001355201;	N	MedGen:CN169374\|MedGen:CN517202\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002922	98002923	9:g.98002922_98002923del	ClinGen:CA5137775	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.345+1del	2176	FANCC	Likely pathogenic	1057516247	RCV000412431;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002930	98002930	NC_000009.11:g.98002931del	ClinGen:CA16041348	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter)	2176	FANCC	Pathogenic/Likely pathogenic	1057516291	RCV000412313\|RCV000462409\|RCV000574200;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98002937	98002937	9:g.98002937C>T	ClinGen:CA16041349	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)	2176	FANCC	Pathogenic	1064793405	RCV001020169\|RCV001195043\|RCV001210421;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98002938	98002938	9:g.98002938C>T	-
NM_000136.3(FANCC):c.336C>T (p.Ser112=)	2176	FANCC	Likely benign	1057521125	RCV001276464\|RCV001720108\|RCV002450986;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98002940	98002940	9:g.98002940G>A	ClinGen:CA16605749	CN169374 not specified;
NM_000136.3(FANCC):c.323C>A (p.Ser108Ter)	2176	FANCC	Likely pathogenic	1830581816	RCV001263720;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002953	98002953	9:g.98002953G>T	-
NM_000136.3(FANCC):c.319C>T (p.Gln107Ter)	2176	FANCC	Pathogenic/Likely pathogenic	730881731	RCV000160499\|RCV000472455\|RCV000781350;	N	MedGen:CN517202\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002957	98002957	NC_000009.11:g.98002957G>A	ClinGen:CA299218	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.315_316insCCCG (p.Gly106fs)	2176	FANCC	Likely pathogenic	-1	RCV002309986;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002960	98002961	98002960	-
NM_000136.3(FANCC):c.307C>T (p.Gln103Ter)	2176	FANCC	Likely pathogenic	1057516384	RCV000412276;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002969	98002969	9:g.98002969G>A	ClinGen:CA16041350	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.293T>C (p.Ile98Thr)	2176	FANCC	Uncertain significance	1830583670	RCV001339677\|RCV002486362;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002983	98002983	98002983	-
NM_000136.3(FANCC):c.284_293del (p.Cys95fs)	2176	FANCC	Pathogenic/Likely pathogenic	2136049324	RCV001875359\|RCV002440973\|RCV002503489;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002983	98002992	98002982	-
NM_000136.3(FANCC):c.282_283del (p.Cys95fs)	2176	FANCC	Likely pathogenic	-1	RCV002308334;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98002993	98002994	98002992	-
NM_000136.3(FANCC):c.276G>A (p.Trp92Ter)	2176	FANCC	Pathogenic/Likely pathogenic	-1	RCV003037328\|RCV003465918;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98003000	98003000	NC_000009.11:g.98003000C>T	-
NM_000136.3(FANCC):c.275G>A (p.Trp92Ter)	2176	FANCC	Likely pathogenic	1830584796	RCV001263721;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98003001	98003001	9:g.98003001C>T	-
NM_000136.3(FANCC):c.267del (p.Ile89_Leu90insTer)	2176	FANCC	Likely pathogenic	777918411	RCV000666180;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98003009	98003009	NC_000009.11:g.98003010del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.259C>T (p.Gln87Ter)	2176	FANCC	Pathogenic	2136049646	RCV002249976;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98003017	98003017	98003017	-
NC_000009.12:g.(95240744_95247431)_(95317709_?)del	2176	FANCC	Pathogenic	-1	RCV001195038;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98003026	98079991	-1	-
NM_000136.3(FANCC):c.251-2A>C	2176	FANCC	Likely pathogenic	1057517219	RCV000410988\|RCV002436231;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98003027	98003027	9:g.98003027T>G	ClinGen:CA16041351	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.251-20T>C	2176	FANCC	Benign/Likely benign	370867462	RCV000160505\|RCV002053925\|RCV002492636;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98003045	98003045	NC_000009.11:g.98003045A>G	ClinGen:CA299229	CN169374 not specified;
NM_000136.3(FANCC):c.166-620_250+3083delinsAACTAAATTTACTTTTT	2176	FANCC	Pathogenic	-1	RCV001195040;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98006631	98010418	9:g.98006632_98006730del	-
NM_000136.3(FANCC):c.250+16G>A	2176	FANCC	Likely benign	371993188	RCV000434217\|RCV002065061\|RCV002502531;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009698	98009698	9:g.98009698C>T	ClinGen:CA5137799	CN169374 not specified;
NM_000136.3(FANCC):c.249T>A (p.Tyr83Ter)	2176	FANCC	Likely pathogenic	-1	RCV002309778;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009715	98009715	98009715	-
NM_000136.3(FANCC):c.248A>G (p.Tyr83Cys)	2176	FANCC	Uncertain significance	140992397	RCV000206718\|RCV000221187\|RCV001824685\|RCV002426969\|RCV002494533;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009716	98009716	9:g.98009716T>C	ClinGen:CA350717	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.239T>C (p.Ile80Thr)	2176	FANCC	Conflicting interpretations of pathogenicity	4647419	RCV000160497\|RCV001831983\|RCV002426792\|RCV002484995;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009725	98009725	NC_000009.11:g.98009725A>G	ClinGen:CA299212,UniProtKB:Q00597#VAR_016339	CN169374 not specified;
NM_000136.3(FANCC):c.238A>G (p.Ile80Val)	2176	FANCC	Uncertain significance	1064793110	RCV000480272\|RCV001276465\|RCV002455910;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98009726	98009726	9:g.98009726T>C	ClinGen:CA16618894	CN517202 not provided;
NM_000136.3(FANCC):c.233C>A (p.Pro78His)	2176	FANCC	Uncertain significance	138722298	RCV000481574\|RCV000531726\|RCV001276595\|RCV002446920\|RCV002469168;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	9	98009731	98009731	9:g.98009731G>T	ClinGen:CA5137801	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.225T>A (p.Cys75Ter)	2176	FANCC	Likely pathogenic	-1	RCV002306898;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009739	98009739	98009739	-
NM_000136.3(FANCC):c.220del (p.Ala74fs)	2176	FANCC	Likely pathogenic	1588350264	RCV001004337;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009744	98009744	9:g.98009744_98009744del	-
NM_000136.3(FANCC):c.216A>G (p.Ala72=)	2176	FANCC	Likely benign	1057523069	RCV000439033\|RCV001276466\|RCV002059850\|RCV002418310;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98009748	98009748	9:g.98009748T>C	ClinGen:CA16605756	CN169374 not specified;
NM_000136.3(FANCC):c.214G>A (p.Ala72Thr)	2176	FANCC	Uncertain significance	567465885	RCV000120975\|RCV000668393\|RCV001014600\|RCV001826790;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98009750	98009750	9:g.98009750C>T	ClinGen:CA159402	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.209T>A (p.Leu70Gln)	2176	FANCC	Uncertain significance	150174412	RCV001070979\|RCV001759849\|RCV002418557\|RCV002489711;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009755	98009755	9:g.98009755A>T	-
NM_000136.3(FANCC):c.202G>C (p.Gly68Arg)	2176	FANCC	Uncertain significance	777111154	RCV000206563\|RCV001014138\|RCV001546776\|RCV002291593;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009762	98009762	9:g.98009762C>G	ClinGen:CA350586	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)	2176	FANCC	Uncertain significance	777111154	RCV000709094;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009762	98009762	NC_000009.11:g.98009762C>T	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.191T>G (p.Phe64Cys)	2176	FANCC	Uncertain significance	375921240	RCV000160496\|RCV000557807\|RCV001013700\|RCV002492635;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009773	98009773	NC_000009.11:g.98009773A>C	ClinGen:CA299209	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	2176	FANCC	Conflicting interpretations of pathogenicity	138629441	RCV000115347\|RCV000197543\|RCV000224234\|RCV000563479\|RCV000709095\|RCV000988221\|RCV001354572;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,M	9	98009786	98009786	9:g.98009786C>T	ClinGen:CA287202	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.176C>T (p.Thr59Ile)	2176	FANCC	Uncertain significance	149566909	RCV001013091\|RCV001213662\|RCV001766830\|RCV002489519;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009788	98009788	9:g.98009788G>A	-
NM_000136.3(FANCC):c.169del (p.Ser57fs)	2176	FANCC	Likely pathogenic	-1	RCV003468118;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009795	98009795		-
NM_000136.3(FANCC):c.166-4_166-1dup	2176	FANCC	Conflicting interpretations of pathogenicity	746016938	RCV000478232\|RCV001012642\|RCV001851195\|RCV003144281;	N	MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009798	98009799	NC_000009.11:g.98009799_98009802dup	ClinGen:CA5137811	CN169374 not specified;
NM_000136.3(FANCC):c.166-2A>G	2176	FANCC	Pathogenic/Likely pathogenic	587777945	RCV000122403\|RCV001729399\|RCV002399490\|RCV003407527;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	9	98009800	98009800	9:g.98009800T>C	ClinGen:CA163000	CN169374 not specified;
NM_000136.3(FANCC):c.166-9C>G	2176	FANCC	Benign/Likely benign	372507085	RCV000871173\|RCV000988224\|RCV001615068\|RCV002501306;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MedGen:CN517202\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98009807	98009807	9:g.98009807G>C	-
NM_000136.3(FANCC):c.165+17A>G	2176	FANCC	Likely benign	1046183823	RCV002200884\|RCV002500403;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011392	98011392	98011392	-
NM_000136.3(FANCC):c.165+1G>T	2176	FANCC	Pathogenic	794726668	RCV000012831\|RCV001588811\|RCV001221363;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98011408	98011408	9:g.98011408C>A	ClinGen:CA256210,OMIM:613899.0009	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.165+1del	2176	FANCC	Likely pathogenic	1554858249	RCV000671594\|RCV002531291;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98011408	98011408	9:g.98011408_98011408del	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.163del (p.Met55fs)	2176	FANCC	Likely pathogenic	-1	RCV003468117;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011411	98011411		-
NM_000136.3(FANCC):c.143T>C (p.Met48Thr)	2176	FANCC	Uncertain significance	1353498563	RCV000688685\|RCV001011588\|RCV002485623;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011431	98011431	9:g.98011431A>G	-	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)	2176	FANCC	Uncertain significance	374836770	RCV000160495\|RCV000709096\|RCV000988226\|RCV002256090\|RCV002372044;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0009215,MedGen:C3469521,OMIM:227650, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0	9	98011447	98011447	9:g.98011447C>T	ClinGen:CA299206	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.125dup (p.Glu43fs)	2176	FANCC	Likely pathogenic	-1	RCV003460180;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011448	98011449		-
NM_000136.3(FANCC):c.124C>T (p.Gln42Ter)	2176	FANCC	Likely pathogenic	-1	RCV003145116;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011450	98011450	NC_000009.11:g.98011450G>A	-
NM_000136.3(FANCC):c.117del (p.Gln40fs)	2176	FANCC	Likely pathogenic	1057517147	RCV000408990;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011457	98011457	NC_000009.11:g.98011457del	ClinGen:CA16041352	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.108_109dup (p.His37fs)	2176	FANCC	Pathogenic/Likely pathogenic	1057517131	RCV000409107\|RCV001850957;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98011464	98011465	9:g.98011464_98011465insGA	ClinGen:CA16041353	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.109C>G (p.His37Asp)	2176	FANCC	Uncertain significance	864622230	RCV000205596\|RCV001017291\|RCV001276598;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011465	98011465	9:g.98011465G>C	ClinGen:CA349729	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.104G>C (p.Cys35Ser)	2176	FANCC	Uncertain significance	143212932	RCV000568036\|RCV001202318\|RCV001584391\|RCV002491133;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011470	98011470	NC_000009.11:g.98011470C>G	ClinGen:CA5137836	C0027672 Hereditary cancer-predisposing syndrome;
NM_000136.3(FANCC):c.70C>T (p.Gln24Ter)	2176	FANCC	Pathogenic/Likely pathogenic	2136101386	RCV001615391\|RCV002368623\|RCV003339687;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011504	98011504	98011504	-
NM_000136.3(FANCC):c.67del (p.Asp23fs)	2176	FANCC	Pathogenic	104886459	RCV000012829\|RCV000058926\|RCV000460906\|RCV001025667;	Y	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98011507	98011507	9:g.98011507_98011507del	OMIM:613899.0007,ClinGen:CA284832	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter)	2176	FANCC	Pathogenic/Likely pathogenic	377294947	RCV000169293\|RCV001390247\|RCV002362865\|RCV003407628;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|	9	98011509	98011509	9:g.98011509C>T	ClinGen:CA274137	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.61G>C (p.Val21Leu)	2176	FANCC	Uncertain significance	772386467	RCV001025004\|RCV001276599\|RCV002551910;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98011513	98011513	9:g.98011513C>G	-
NM_000136.3(FANCC):c.46A>G (p.Met16Val)	2176	FANCC	Uncertain significance	1390412870	RCV000707263\|RCV002469272\|RCV002493251\|RCV002532865;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MeSH:D030342,MedGen:C0950123	9	98011528	98011528	NC_000009.11:g.98011528T>C	-	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.38A>G (p.Gln13Arg)	2176	FANCC	Uncertain significance	199968672	RCV000362819\|RCV002356504;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98011536	98011536	NC_000009.11:g.98011536T>C	ClinGen:CA5137845	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter)	2176	FANCC	Pathogenic/Likely pathogenic	121917784	RCV000012826\|RCV000115351\|RCV000476519\|RCV001021181;	Y	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98011537	98011537	9:g.98011537G>A	ClinGen:CA287210,OMIM:613899.0004	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.35A>G (p.Tyr12Cys)	2176	FANCC	Uncertain significance	762884109	RCV000482075\|RCV001276467\|RCV002350058\|RCV002525805;	N	MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98011539	98011539	9:g.98011539T>C	ClinGen:CA5137846	CN169374 not specified;
NM_000136.3(FANCC):c.29dup (p.Cys10fs)	2176	FANCC	Pathogenic/Likely pathogenic	878853671	RCV000226528\|RCV000484608\|RCV002433945\|RCV003463635;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011544	98011545	9:g.98011544_98011545insC	ClinGen:CA10582671	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)	2176	FANCC	Conflicting interpretations of pathogenicity	143152201	RCV000233348\|RCV000567825\|RCV000656849\|RCV000709097\|RCV001358189\|RCV001818266;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0007254,MedGen:C0006142\|M	9	98011545	98011545	9:g.98011545C>T	ClinGen:CA287205	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)	2176	FANCC	Uncertain significance	147479204	RCV000200177\|RCV000218236\|RCV000709098\|RCV001016913\|RCV001818485;	N	MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374	9	98011546	98011546	9:g.98011546A>C	ClinGen:CA339141	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.12_14delinsAAGATCAA (p.Asp4fs)	2176	FANCC	Pathogenic/Likely pathogenic	1588353886	RCV001010278\|RCV002479204;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011560	98011562	9:g.98011560_98011561insTGATCTT	-
NM_000136.3(FANCC):c.14C>T (p.Ser5Leu)	2176	FANCC	Uncertain significance	1831182314	RCV001761864\|RCV002464487\|RCV002540734;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98011560	98011560	98011560	-
NM_000136.3(FANCC):c.9A>T (p.Gln3His)	2176	FANCC	Uncertain significance	769585639	RCV000518936\|RCV000692581\|RCV001276468\|RCV002384005;	N	MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98011565	98011565	9:g.98011565T>A	ClinGen:CA5137852	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.8_9del (p.Gln3fs)	2176	FANCC	Pathogenic	1831183107	RCV001195039;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011565	98011566	9:g.98011565_98011566del	-
NM_000136.3(FANCC):c.5dup (p.Gln3fs)	2176	FANCC	Pathogenic/Likely pathogenic	1268491295	RCV000674999\|RCV001384636;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98011568	98011569	9:g.98011568_98011569insG	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.3G>T (p.Met1Ile)	2176	FANCC	Pathogenic/Likely pathogenic	1368374192	RCV000673122\|RCV001021633;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	98011571	98011571	9:g.98011571C>A	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.3G>A (p.Met1Ile)	2176	FANCC	Conflicting interpretations of pathogenicity	1368374192	RCV000779587\|RCV002352294\|RCV002307613\|RCV001869147;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98011571	98011571	NC_000009.11:g.98011571C>T	-
NM_000136.3(FANCC):c.2T>C (p.Met1Thr)	2176	FANCC	Likely pathogenic	2136102345	RCV001781081;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011572	98011572	98011572	-
NM_000136.3(FANCC):c.-29A>C	2176	FANCC	Benign	4647414	RCV000124977\|RCV000396410\|RCV001095338;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011602	98011602	9:g.98011602T>G	ClinGen:CA290836	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.-78-18T>G	2176	FANCC	Likely benign	560839822	RCV000436852\|RCV002502513;	N	MedGen:CN169374\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98011669	98011669	9:g.98011669A>C	ClinGen:CA16605912	CN169374 not specified;
NM_000136.3(FANCC):c.-262_-79+3686del	2176	FANCC	Pathogenic	-1	RCV001195033;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98076122	98079991	9:g.98076122_98076220del	-
NM_000136.2(FANCC):c.-262-4937_-79+3379del	2176	FANCC	Uncertain significance	-1	RCV001200940;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98076429	98084928	NC_000009.11:g.98076429_98084928del	-
NM_000136.3(FANCC):c.-79+5G>A	2176	FANCC	Benign/Likely benign	4647350	RCV000115338\|RCV000934808\|RCV001168032;	N	MedGen:CN169374\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98079803	98079803	NC_000009.11:g.98079803C>T	ClinGen:CA287177	CN169374 not specified;
NM_000136.3(FANCC):c.-79+1G>A	2176	FANCC	Conflicting interpretations of pathogenicity	1228886763	RCV000669102\|RCV002531216;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84	9	98079807	98079807	9:g.98079807C>T	-	C3468041 227645 Fanconi anemia, complementation group C;
NM_000136.3(FANCC):c.-155A>C	2176	FANCC	Conflicting interpretations of pathogenicity	549658720	RCV000309313\|RCV000503247\|RCV000830234;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:CN169374\|MedGen:C3661900	9	98079884	98079884	NC_000009.11:g.98079884T>G	ClinGen:CA10627706	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.-172G>T	2176	FANCC	Uncertain significance	1057515706	RCV000366383;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98079901	98079901	NC_000009.11:g.98079901C>A	ClinGen:CA10634534	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.-225C>T	2176	FANCC	Conflicting interpretations of pathogenicity	182633348	RCV000264260\|RCV001574533\|RCV001833482\|RCV001821125;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84\|MedGen:C3661900\|MONDO:MONDO:0019391,MeSH:D005199,MedGen:C0015625,OMIM:PS227650, Orphanet:84\|MedGen:CN169374	9	98079954	98079954	NC_000009.11:g.98079954G>A	ClinGen:CA10627711	C0015625 Fanconi anemia;
NM_000136.3(FANCC):c.-246A>G	2176	FANCC	Uncertain significance	1000528763	RCV000321715;	N	MONDO:MONDO:0009213,MedGen:C3468041,OMIM:227645, Orphanet:84	9	98079975	98079975	NC_000009.11:g.98079975T>C	ClinGen:CA10630630	C0015625 Fanconi anemia;

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