"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AOPEP"[gene] - ClinVar

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Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 565379	NM_000136.3(FANCC):c.1672G>T (p.Val558Phe)	AOPEP, FANCC (V558F)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 12043	NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro)	AOPEP, FANCC (L554P)	Single nucleotide variant (missense variant)	FANCC-related condition +4 more	GPathogenic/Likely pathogenic
Select item 12047	NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	FANCC, AOPEP (R548*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 418879	NM_000136.3(FANCC):c.1633A>G (p.Lys545Glu)	AOPEP, FANCC (K545E)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 127534	NM_000136.3(FANCC):c.1575T>G (p.Phe525Leu)	FANCC, AOPEP (F525L)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 705558	NM_000136.3(FANCC):c.1534-9T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +1 more	GLikely benign
Select item 802492	NM_000136.3(FANCC):c.1534-18C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +3 more	GBenign/Likely benign
Select item 1048979	NM_000136.3(FANCC):c.1533+13G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 220138	NM_000136.3(FANCC):c.1513G>A (p.Ala505Thr)	AOPEP, FANCC (A505T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1141026	NM_000136.3(FANCC):c.1503C>T (p.Gly501=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C +2 more	GLikely benign
Select item 182488	NM_000136.3(FANCC):c.1493C>T (p.Ala498Val)	AOPEP, FANCC (A498V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 137285	NM_000136.3(FANCC):c.1485G>A (p.Leu495=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +3 more	GBenign/Likely benign
Select item 571161	NM_000136.3(FANCC):c.1464G>C (p.Arg488Ser)	AOPEP, FANCC (R488S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 551836	NM_000136.3(FANCC):c.1417C>T (p.Gln473Ter)	AOPEP, FANCC (Q473*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic/Likely pathogenic
Select item 419042	NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)	AOPEP, FANCC (T469M)	Single nucleotide variant (missense variant)	Fanconi anemia +5 more	GUncertain significance
Select item 216283	NM_000136.3(FANCC):c.1368G>T (p.Met456Ile)	AOPEP, FANCC (M456I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +2 more	GUncertain significance
Select item 234582	NM_000136.3(FANCC):c.1363G>T (p.Ala455Ser)	AOPEP, FANCC (A455S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 818997	NM_000136.3(FANCC):c.1358T>A (p.Leu453His)	AOPEP, FANCC (L453H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 419059	NM_000136.3(FANCC):c.1355_1358delinsGCCA (p.His452_Leu453delinsArgHis)	AOPEP, FANCC	Indel (missense variant)	Fanconi anemia complementation group C +1 more	GUncertain significance
Select item 1017642	NM_000136.3(FANCC):c.1355A>G (p.His452Arg)	AOPEP, FANCC (H452R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +2 more	GConflicting classifications of pathogenicity
Select item 507920	NM_000136.3(FANCC):c.1330-6G>T	FANCC, AOPEP	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GLikely benign
Select item 182486	NM_000136.3(FANCC):c.1316G>A (p.Arg439Lys)	AOPEP, FANCC (R439K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GUncertain significance
Select item 970441	NM_000136.3(FANCC):c.1310A>G (p.Gln437Arg)	FANCC, AOPEP (Q437R)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +3 more	GUncertain significance
Select item 370350	NM_000136.3(FANCC):c.1309C>T (p.Gln437Ter)	AOPEP, FANCC (Q437*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +3 more	GPathogenic/Likely pathogenic
Select item 652649	NM_000136.3(FANCC):c.1291G>A (p.Gly431Ser)	AOPEP, FANCC (G431S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 216282	NM_000136.3(FANCC):c.1262C>G (p.Ala421Gly)	AOPEP, FANCC (A421G)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 449129	NM_000136.3(FANCC):c.1259C>T (p.Thr420Met)	AOPEP, FANCC (T420M)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GUncertain significance
Select item 1468966	NM_000136.3(FANCC):c.1252C>T (p.Pro418Ser)	FANCC, AOPEP (P418S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 418852	NM_000136.3(FANCC):c.1244C>T (p.Ala415Val)	AOPEP, FANCC (A415V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 652771	NM_000136.3(FANCC):c.1241C>T (p.Ser414Leu)	AOPEP, FANCC (S414L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 818425	NM_000136.3(FANCC):c.1151A>G (p.His384Arg)	AOPEP, FANCC (H384R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1000689	NM_000136.3(FANCC):c.1136T>C (p.Val379Ala)	AOPEP, FANCC (V379A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 584738	NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)	AOPEP, FANCC (Q357E)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 419252	NM_000136.3(FANCC):c.1069C>T (p.Gln357Ter)	AOPEP, FANCC (Q357*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 409658	NM_000136.3(FANCC):c.1067C>A (p.Pro356His)	AOPEP, FANCC (P356H)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +2 more	GUncertain significance
Select item 216281	NM_000136.3(FANCC):c.1048A>G (p.Met350Val)	AOPEP, FANCC (M350V)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 966788	NM_000136.3(FANCC):c.996+6T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GUncertain significance
Select item 265137	NM_000136.3(FANCC):c.996+1G>T	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C +3 more	GPathogenic/Likely pathogenic
Select item 929811	NM_000136.3(FANCC):c.996G>A (p.Gln332=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 456174	NM_000136.3(FANCC):c.990C>A (p.Ser330Arg)	AOPEP, FANCC (S330R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 422336	NM_000136.3(FANCC):c.990C>G (p.Ser330Arg)	AOPEP, FANCC (S330R)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 127551	NM_000136.3(FANCC):c.974C>T (p.Ala325Val)	FANCC, AOPEP (A325V)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance
Select item 1214876	NM_000136.3(FANCC):c.917A>T (p.Asp306Val)	AOPEP, FANCC (D306V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +3 more	GUncertain significance
Select item 1588889	NM_000136.3(FANCC):c.896+14T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 182481	NM_000136.3(FANCC):c.889A>T (p.Met297Leu)	AOPEP, FANCC (M297L)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 219684	NM_000136.3(FANCC):c.875G>A (p.Arg292Gln)	AOPEP, FANCC (R292Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 1615581	NM_000136.3(FANCC):c.843+12G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +1 more	GLikely benign
Select item 220920	NM_000136.3(FANCC):c.843+4C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +4 more	GBenign/Likely benign
Select item 526320	NM_000136.3(FANCC):c.835T>A (p.Ser279Thr)	AOPEP, FANCC (S279T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 219885	NM_000136.3(FANCC):c.823T>C (p.Phe275Leu)	AOPEP, FANCC (F275L)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 182478	NM_000136.3(FANCC):c.800A>G (p.Asn267Ser)	AOPEP, FANCC (N267S)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 182477	NM_000136.3(FANCC):c.792T>G (p.Ser264Arg)	AOPEP, FANCC (S264R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 182476	NM_000136.3(FANCC):c.767A>G (p.His256Arg)	AOPEP, FANCC (H256R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 237076	NM_000136.3(FANCC):c.760A>G (p.Met254Val)	AOPEP, FANCC (M254V)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 234480	NM_000136.3(FANCC):c.748C>A (p.Leu250Ile)	AOPEP, FANCC (L250I)	Single nucleotide variant (missense variant)	Fanconi anemia +4 more	GUncertain significance
Select item 420182	NM_000136.3(FANCC):c.745A>G (p.Ser249Gly)	AOPEP, FANCC (S249G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 1014542	NM_000136.3(FANCC):c.734G>A (p.Arg245Gln)	AOPEP, FANCC (R245Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 219908	NM_000136.3(FANCC):c.733C>T (p.Arg245Trp)	AOPEP, FANCC (R245W)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 377844	NM_000136.3(FANCC):c.687-15A>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia +2 more	GBenign/Likely benign
Select item 456166	NM_000136.3(FANCC):c.673G>A (p.Glu225Lys)	AOPEP, FANCC (E225K)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 216290	NM_000136.3(FANCC):c.668T>C (p.Val223Ala)	AOPEP, FANCC (V223A)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 456165	NM_000136.3(FANCC):c.652G>C (p.Glu218Gln)	AOPEP, FANCC (E218Q)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 409651	NM_000136.3(FANCC):c.620A>T (p.His207Leu)	AOPEP, FANCC (H207L)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +3 more	GUncertain significance
Select item 419075	NM_000136.3(FANCC):c.590A>T (p.Asp197Val)	AOPEP, FANCC (D197V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 572599	NM_000136.3(FANCC):c.572T>C (p.Ile191Thr)	AOPEP, FANCC (I191T)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 929800	NM_000136.3(FANCC):c.568C>T (p.Leu190Phe)	AOPEP, FANCC (L190F)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 216289	NM_000136.3(FANCC):c.565C>G (p.Pro189Ala)	AOPEP, FANCC (P189A)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GUncertain significance
Select item 182472	NM_000136.3(FANCC):c.554G>A (p.Arg185Gln)	AOPEP, FANCC (R185Q)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +5 more	GConflicting classifications of pathogenicity
Select item 12044	NM_000136.3(FANCC):c.553C>T (p.Arg185Ter)	AOPEP, FANCC (R185*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +3 more	GPathogenic
Select item 485544	NM_000136.3(FANCC):c.536G>A (p.Arg179Gln)	FANCC, AOPEP (R179Q)	Single nucleotide variant (missense variant)	Fanconi anemia +3 more	GConflicting classifications of pathogenicity
Select item 235535	NM_000136.3(FANCC):c.535C>T (p.Arg179Ter)	AOPEP, FANCC (R179*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +3 more	GPathogenic/Likely pathogenic
Select item 825565	NM_000136.3(FANCC):c.522-1G>C	FANCC, AOPEP	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GLikely pathogenic

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Items: 72