"Mendelics"[submitter] AND "FANCC"[gene] - ClinVar

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Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 234905	NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter)	AOPEP, FANCC (R555*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1685808	NM_000136.3(FANCC):c.1653dup (p.Lys552Ter)	AOPEP, FANCC (K552*)	Duplication (nonsense)	Fanconi anemia complementation group C	GPathogenic
Select item 12047	NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter)	AOPEP, FANCC (R548*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +3 more	GPathogenic/Likely pathogenic
Select item 802491	NM_000136.3(FANCC):c.1625G>A (p.Arg542Lys)	AOPEP, FANCC (R542K)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GUncertain significance
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 584736	NM_000136.3(FANCC):c.1495C>T (p.Pro499Ser)	AOPEP, FANCC (P499S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A +1 more	GUncertain significance
Select item 419042	NM_000136.3(FANCC):c.1406C>T (p.Thr469Met)	FANCC, AOPEP (T469M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GUncertain significance
Select item 134297	NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg)	AOPEP, FANCC (Q465R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 584737	NM_000136.3(FANCC):c.1393C>T (p.Gln465Ter)	AOPEP, FANCC (Q465*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C +1 more	GPathogenic
Select item 127532	NM_000136.3(FANCC):c.1374A>C (p.Arg458Ser)	AOPEP, FANCC (R458S)	Single nucleotide variant (missense variant)	Hereditary cancer +3 more	GConflicting classifications of pathogenicity
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 802493	NM_000136.3(FANCC):c.1329+306C>T	AOPEP, FANCC	Single nucleotide variant (3 prime UTR variant +1 more)	Fanconi anemia complementation group A	GBenign
Select item 415745	NM_000136.3(FANCC):c.1329+10A>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A +1 more	GLikely benign
Select item 456153	NM_000136.3(FANCC):c.1275C>G (p.Leu425=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia complementation group A +3 more	GConflicting classifications of pathogenicity
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 545768	NM_000136.3(FANCC):c.1257dup (p.Thr420fs)	AOPEP, FANCC (T420fs)	Duplication (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 649717	NM_000136.3(FANCC):c.1257del (p.Thr420fs)	AOPEP, FANCC (T420fs)	Deletion (frameshift variant)	Fanconi anemia +2 more	GPathogenic
Select item 255274	NM_000136.3(FANCC):c.1161C>T (p.Cys387=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +5 more	GLikely benign
Select item 134296	NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro)	AOPEP, FANCC (S386P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
Select item 802494	NM_000136.3(FANCC):c.1155-29A>G	FANCC, AOPEP	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A	GLikely benign
Select item 584738	NM_000136.3(FANCC):c.1069C>G (p.Gln357Glu)	AOPEP, FANCC (Q357E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 802495	NM_000136.3(FANCC):c.1065C>A (p.Asp355Glu)	AOPEP, FANCC (D355E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 127548	NM_000136.3(FANCC):c.934A>G (p.Ile312Val)	AOPEP, FANCC (I312V)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +5 more	GConflicting classifications of pathogenicity
Select item 584739	NM_000136.3(FANCC):c.871T>C (p.Phe291Leu)	FANCC, AOPEP (F291L)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GUncertain significance
Select item 219407	NM_000136.3(FANCC):c.844-10_844-8del	AOPEP, FANCC	Deletion (intron variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 216291	NM_000136.3(FANCC):c.843+5G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
Select item 418188	NM_000136.3(FANCC):c.839C>T (p.Ser280Leu)	AOPEP, FANCC (S280L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 182480	NM_000136.3(FANCC):c.817G>A (p.Glu273Lys)	AOPEP, FANCC (E273K)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 1447811	NM_000136.3(FANCC):c.816C>G (p.Ile272Met)	AOPEP, FANCC (I272M)	Single nucleotide variant (missense variant)	Fanconi anemia +2 more	GConflicting classifications of pathogenicity
Select item 802496	NM_000136.3(FANCC):c.687-5G>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A	GLikely benign
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 127544	NM_000136.3(FANCC):c.632C>G (p.Pro211Arg)	AOPEP, FANCC (P211R)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 134305	NM_000136.3(FANCC):c.584A>T (p.Asp195Val)	AOPEP, FANCC (D195V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GConflicting classifications of pathogenicity
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 584740	NM_000136.3(FANCC):c.519del (p.Arg173fs)	FANCC (R173fs)	Deletion (frameshift variant)	Fanconi anemia complementation group A	GPathogenic
Select item 12045	NM_000136.3(FANCC):c.456+4A>T	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +3 more	GPathogenic
Select item 134304	NM_000136.3(FANCC):c.416G>A (p.Gly139Glu)	FANCC (G139E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +5 more	GBenign/Likely benign
Select item 584741	NM_000136.3(FANCC):c.413T>G (p.Leu138Arg)	FANCC (L138R)	Single nucleotide variant (missense variant)	Fanconi anemia +1 more	GUncertain significance
Select item 127541	NM_000136.3(FANCC):c.395C>G (p.Ala132Gly)	FANCC (A132G)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +5 more	GConflicting classifications of pathogenicity
Select item 237071	NM_000136.3(FANCC):c.345+4AG[2]	FANCC	Microsatellite (intron variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 823708	NM_000136.3(FANCC):c.338G>A (p.Trp113Ter)	FANCC (W113*)	Single nucleotide variant (nonsense)	Fanconi anemia +2 more	GPathogenic
Select item 1685809	NM_000136.3(FANCC):c.259C>T (p.Gln87Ter)	FANCC (Q87*)	Single nucleotide variant (nonsense)	Fanconi anemia complementation group C	GPathogenic
Select item 584742	NM_000136.3(FANCC):c.202G>A (p.Gly68Ser)	FANCC (G68S)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 127537	NM_000136.3(FANCC):c.178G>A (p.Val60Ile)	FANCC (V60I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +6 more	GConflicting classifications of pathogenicity
Select item 237068	NM_000136.3(FANCC):c.166-5C>T	FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 219433	NM_000136.3(FANCC):c.166-7T>C	FANCC	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 702212	NM_000136.3(FANCC):c.166-9C>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group C +3 more	GBenign/Likely benign
Select item 802497	NM_000136.3(FANCC):c.165+11G>C	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A	GLikely benign
Select item 1442885	NM_000136.3(FANCC):c.140A>C (p.Lys47Thr)	FANCC (K47T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 182493	NM_000136.3(FANCC):c.127G>A (p.Glu43Lys)	FANCC (E43K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GUncertain significance
Select item 134301	NM_000136.3(FANCC):c.77C>T (p.Ser26Phe)	FANCC (S26F)	Single nucleotide variant (missense variant)	Fanconi anemia +6 more	GConflicting classifications of pathogenicity
Select item 127538	NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr)	FANCC (C10Y)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C +4 more	GConflicting classifications of pathogenicity
Select item 216287	NM_000136.3(FANCC):c.28T>G (p.Cys10Gly)	FANCC (C10G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 802498	NM_000136.3(FANCC):c.17T>C (p.Val6Ala)	FANCC (V6A)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group A	GLikely benign
Select item 802499	NM_000136.3(FANCC):c.-79+98A>G	FANCC	Single nucleotide variant (intron variant)	Fanconi anemia complementation group A	GLikely benign
Select item 802500	NM_000136.3(FANCC):c.-87G>A	FANCC	Single nucleotide variant (5 prime UTR variant)	Fanconi anemia complementation group A +1 more	GBenign/Likely benign

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Items: 56