"Fulgent Genetics, Fulgent Genetics"[submitter] AND "FANCI"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 887850	NM_001113378.2(FANCI):c.-10A>G	FANCI	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 1022962	NM_001113378.2(FANCI):c.1A>G (p.Met1Val)	FANCI (M1V)	Single nucleotide variant (missense variant +2 more)	Fanconi anemia +1 more	GUncertain significance
Select item 841021	NM_001113378.2(FANCI):c.13A>G (p.Ile5Val)	FANCI (I5V)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 317257	NM_001113378.2(FANCI):c.17T>C (p.Leu6Ser)	FANCI (L6S)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 435165	NM_001113378.2(FANCI):c.96_98del (p.Leu33del)	FANCI (L33del)	Deletion (inframe_deletion +1 more)	Fanconi anemia +2 more	GUncertain significance
Select item 526410	NM_001113378.2(FANCI):c.157+7A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GConflicting classifications of pathogenicity
Select item 1616817	NM_001113378.2(FANCI):c.165C>T (p.Pro55=)	FANCI	Single nucleotide variant (synonymous variant +1 more)	Fanconi anemia +1 more	GLikely benign
Select item 317258	NM_001113378.2(FANCI):c.196C>T (p.Arg66Cys)	FANCI (R66C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1025490	NM_001113378.2(FANCI):c.197G>A (p.Arg66His)	FANCI (R66H)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1020172	NM_001113378.2(FANCI):c.206A>G (p.Tyr69Cys)	FANCI (Y69C)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 1326598	NM_001113378.2(FANCI):c.209C>T (p.Thr70Ile)	FANCI (T70I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 583183	NM_001113378.2(FANCI):c.217A>T (p.Ile73Phe)	FANCI (I73F)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 997526	NM_001113378.2(FANCI):c.233C>T (p.Ser78Leu)	FANCI (S78L)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 456207	NM_001113378.2(FANCI):c.236G>A (p.Gly79Glu)	FANCI (G79E)	Single nucleotide variant (missense variant +1 more)	Fanconi anemia +1 more	GUncertain significance
Select item 450812	NM_001113378.2(FANCI):c.328A>G (p.Asn110Asp)	FANCI (N110D +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 576582	NM_001113378.2(FANCI):c.406G>A (p.Ala136Thr)	FANCI (A136T +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1511914	NM_001113378.2(FANCI):c.418A>G (p.Lys140Glu)	FANCI (K140E +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 238328	NM_001113378.2(FANCI):c.446-6T>G	FANCI	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign
Select item 317261	NM_001113378.2(FANCI):c.467G>A (p.Cys156Tyr)	FANCI (C156Y +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GConflicting classifications of pathogenicity
Select item 1392652	NM_001113378.2(FANCI):c.517T>C (p.Tyr173His)	FANCI (Y173H +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1569212	NM_001113378.2(FANCI):c.534C>T (p.Thr178=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 947332	NM_001113378.2(FANCI):c.571G>A (p.Val191Met)	FANCI (V98M +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 456223	NM_001113378.2(FANCI):c.601A>G (p.Met201Val)	FANCI (M201V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1450449	NM_001113378.2(FANCI):c.644A>G (p.Tyr215Cys)	FANCI (Y215C +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1446137	NM_001113378.2(FANCI):c.665C>T (p.Ser222Phe)	FANCI (S222F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1577659	NM_001113378.2(FANCI):c.669+14A>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1512384	NM_001113378.2(FANCI):c.697A>G (p.Ile233Val)	FANCI (I140V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 703112	NM_001113378.2(FANCI):c.705C>T (p.Ala235=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1018446	NM_001113378.2(FANCI):c.712A>G (p.Ser238Gly)	FANCI (S145G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 1450985	NM_001113378.2(FANCI):c.713G>A (p.Ser238Asn)	FANCI (S238N +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1439567	NM_001113378.2(FANCI):c.716C>T (p.Ala239Val)	FANCI (A146V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 838518	NM_001113378.2(FANCI):c.800T>C (p.Val267Ala)	FANCI (V174A +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 936577	NM_001113378.2(FANCI):c.811A>G (p.Ile271Val)	FANCI (I178V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1107842	NM_001113378.2(FANCI):c.822C>T (p.His274=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 449021	NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr)	FANCI (I275T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 998244	NM_001113378.2(FANCI):c.850G>A (p.Glu284Lys)	FANCI (E191K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1415906	NM_001113378.2(FANCI):c.875A>G (p.His292Arg)	FANCI (H199R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 238331	NM_001113378.2(FANCI):c.905A>G (p.Asn302Ser)	FANCI (N302S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 575021	NM_001113378.2(FANCI):c.919C>T (p.Pro307Ser)	FANCI (P307S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 702616	NM_001113378.2(FANCI):c.976-5T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 456226	NM_001113378.2(FANCI):c.993G>A (p.Lys331=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 1441734	NM_001113378.2(FANCI):c.998C>A (p.Ser333Ter)	FANCI (S240* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 639011	NM_001113378.2(FANCI):c.1028TCC[1] (p.Leu344del)	FANCI (L344del +1 more)	Microsatellite (inframe_deletion)	Fanconi anemia +1 more	GUncertain significance
Select item 1474290	NM_001113378.2(FANCI):c.1055A>G (p.Asn352Ser)	FANCI (N259S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1038626	NM_001113378.2(FANCI):c.1075T>A (p.Tyr359Asn)	FANCI (Y359N +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1327078	NM_001113378.2(FANCI):c.1084A>G (p.Thr362Ala)	FANCI (T269A +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 408232	NM_001113378.2(FANCI):c.1102G>A (p.Val368Met)	FANCI (V368M +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 702967	NM_001113378.2(FANCI):c.1112+8G>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1692553	NM_001113378.2(FANCI):c.1148T>C (p.Val383Ala)	FANCI (V290A +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 317273	NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +2 more	GBenign/Likely benign
Select item 238307	NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr)	FANCI (I404T +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 646018	NM_001113378.2(FANCI):c.1250A>G (p.His417Arg)	FANCI (H417R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1692554	NM_001113378.2(FANCI):c.1263C>A (p.Leu421=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +1 more	GLikely benign
Select item 887902	NM_001113378.2(FANCI):c.1263C>T (p.Leu421=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +1 more	GBenign/Likely benign
Select item 1319718	NM_001113378.2(FANCI):c.1273A>G (p.Ile425Val)	FANCI (I332V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 845551	NM_001113378.2(FANCI):c.1305G>A (p.Met435Ile)	FANCI (M342I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 238308	NM_001113378.2(FANCI):c.1399G>A (p.Val467Ile)	FANCI (V467I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GUncertain significance
Select item 408243	NM_001113378.2(FANCI):c.1412C>G (p.Pro471Arg)	FANCI (P471R +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 581406	NM_001113378.2(FANCI):c.1418T>G (p.Val473Gly)	FANCI (V473G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1593101	NM_001113378.2(FANCI):c.1513-16A>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 1347243	NM_001113378.2(FANCI):c.1519C>T (p.Leu507Phe)	FANCI (L414F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 408244	NM_001113378.2(FANCI):c.1564C>T (p.Arg522Trp)	FANCI (R522W +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1432454	NM_001113378.2(FANCI):c.1657C>A (p.Leu553Met)	FANCI (L460M +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 1014452	NM_001113378.2(FANCI):c.1698+6G>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1589691	NM_001113378.2(FANCI):c.1699-17del	FANCI	Deletion (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 414866	NM_001113378.2(FANCI):c.1699-7C>A	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GBenign/Likely benign
Select item 408236	NM_001113378.2(FANCI):c.1699-3C>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 456194	NM_001113378.2(FANCI):c.1727A>G (p.Asn576Ser)	FANCI (N576S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456195	NM_001113378.2(FANCI):c.1735G>A (p.Ala579Thr)	FANCI (A579T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 571958	NM_001113378.2(FANCI):c.1739A>G (p.Asn580Ser)	FANCI (N580S +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 577550	NM_001113378.2(FANCI):c.1765G>A (p.Asp589Asn)	FANCI (D589N +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 1337631	NM_001113378.2(FANCI):c.1797T>C (p.Ala599=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +2 more	GLikely benign
Select item 929725	NM_001113378.2(FANCI):c.1804C>T (p.Arg602Ter)	FANCI (R509* +1 more)	Single nucleotide variant (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1351975	NM_001113378.2(FANCI):c.1805G>A (p.Arg602Gln)	FANCI (R509Q +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456197	NM_001113378.2(FANCI):c.1810A>G (p.Met604Val)	FANCI (M604V +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1534747	NM_001113378.2(FANCI):c.1822-18C>T	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GLikely benign
Select item 456198	NM_001113378.2(FANCI):c.1850C>G (p.Ser617Cys)	FANCI (S617C +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 376943	NM_001113378.2(FANCI):c.1893A>C (p.Leu631Phe)	FANCI (L631F +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 317282	NM_001113378.2(FANCI):c.1900T>A (p.Phe634Ile)	FANCI (F634I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 456199	NM_001113378.2(FANCI):c.1904A>G (p.Tyr635Cys)	FANCI (Y635C +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 414871	NM_001113378.2(FANCI):c.1923G>A (p.Leu641=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +1 more	GLikely benign
Select item 1440598	NM_001113378.2(FANCI):c.1951A>G (p.Ile651Val)	FANCI (I558V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 456200	NM_001113378.2(FANCI):c.1992+10T>C	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +2 more	GLikely benign
Select item 238312	NM_001113378.2(FANCI):c.2011A>G (p.Ile671Val)	FANCI (I671V +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 317283	NM_001113378.2(FANCI):c.2021G>T (p.Cys674Phe)	FANCI (C674F +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I	GUncertain significance
Select item 1317034	NM_001113378.2(FANCI):c.2041A>C (p.Thr681Pro)	FANCI (T588P +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +3 more	GUncertain significance
Select item 238313	NM_001113378.2(FANCI):c.2066AGGAGGAAGAGG[1] (p.Glu693_Glu696del)	FANCI	Microsatellite (inframe_deletion)	Fanconi anemia +1 more	GUncertain significance
Select item 571747	NM_001113378.2(FANCI):c.2071G>A (p.Glu691Lys)	FANCI (E691K +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1039417	NM_001113378.2(FANCI):c.2133T>C (p.Asn711=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GConflicting classifications of pathogenicity
Select item 456204	NM_001113378.2(FANCI):c.2183A>G (p.Asp728Gly)	FANCI (D728G +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +2 more	GUncertain significance
Select item 456205	NM_001113378.2(FANCI):c.2203A>G (p.Ile735Val)	FANCI (I735V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 408251	NM_001113378.2(FANCI):c.2204T>C (p.Ile735Thr)	FANCI (I735T +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 938900	NM_001113378.2(FANCI):c.2266T>C (p.Tyr756His)	FANCI (Y756H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 238315	NM_001113378.2(FANCI):c.2278A>G (p.Ile760Val)	FANCI (I760V +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 1662900	NM_001113378.2(FANCI):c.2291+12C>G	FANCI	Single nucleotide variant (intron variant)	Fanconi anemia complementation group I +1 more	GLikely benign
Select item 452060	NM_001113378.2(FANCI):c.2326A>G (p.Met776Val)	FANCI (M776V +1 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 936180	NM_001113378.2(FANCI):c.2328G>A (p.Met776Ile)	FANCI (M683I +1 more)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group I +1 more	GUncertain significance
Select item 705483	NM_001113378.2(FANCI):c.2334C>T (p.Tyr778=)	FANCI	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group I +1 more	GLikely benign
Select item 1425245	NM_001113378.2(FANCI):c.2345_2346del (p.Leu781_Ser782insTer)	FANCI	Microsatellite (nonsense)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 1080496	NM_001113378.2(FANCI):c.2349C>T (p.Asp783=)	FANCI	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign

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