ClinVar for Gene (Select 2176) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3335920	NM_000136.3(FANCC):c.250+1G>T	FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 3335891	NM_000136.3(FANCC):c.165G>T (p.Met55Ile)	FANCC (M55I)	Single nucleotide variant (missense variant)	Fanconi anemia complementation group C	GUncertain significance
Select item 3277658	NM_000136.3(FANCC):c.1051G>A (p.Val351Met)	AOPEP, FANCC (V351M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277657	NM_000136.3(FANCC):c.343C>G (p.Gln115Glu)	FANCC (Q115E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277656	NM_000136.3(FANCC):c.513T>C (p.Thr171=)	FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3277654	NM_000136.3(FANCC):c.283T>C (p.Cys95Arg)	FANCC (C95R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277653	NM_000136.3(FANCC):c.1415G>A (p.Gly472Glu)	AOPEP, FANCC (G472E)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277652	NM_000136.3(FANCC):c.979G>C (p.Glu327Gln)	AOPEP, FANCC (E327Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277651	NM_000136.3(FANCC):c.1049T>C (p.Met350Thr)	AOPEP, FANCC (M350T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277650	NM_000136.3(FANCC):c.1647G>A (p.Glu549=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3277649	NM_000136.3(FANCC):c.152C>T (p.Ala51Val)	FANCC (A51V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277648	NM_000136.3(FANCC):c.870A>G (p.Ile290Met)	AOPEP, FANCC (I290M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277647	NM_000136.3(FANCC):c.1380C>G (p.Ser460Arg)	AOPEP, FANCC (S460R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277645	NM_000136.3(FANCC):c.474G>T (p.Ala158=)	FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3277644	NM_000136.3(FANCC):c.131T>G (p.Phe44Cys)	FANCC (F44C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277643	NM_000136.3(FANCC):c.1614T>G (p.Ile538Met)	AOPEP, FANCC (I538M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277642	NM_000136.3(FANCC):c.1231T>C (p.Leu411=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3277641	NM_000136.3(FANCC):c.1534A>T (p.Met512Leu)	AOPEP, FANCC (M512L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277640	NM_000136.3(FANCC):c.665C>G (p.Ala222Gly)	AOPEP, FANCC (A222G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277639	NM_000136.3(FANCC):c.346G>T (p.Gly116Cys)	FANCC (G116C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277638	NM_000136.3(FANCC):c.1164A>G (p.Gly388=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3277637	NM_000136.3(FANCC):c.242T>C (p.Leu81Ser)	FANCC (L81S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277635	NM_000136.3(FANCC):c.587T>C (p.Val196Ala)	AOPEP, FANCC (V196A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277634	NM_000136.3(FANCC):c.1482C>G (p.Phe494Leu)	AOPEP, FANCC (F494L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277633	NM_000136.3(FANCC):c.942T>A (p.Thr314=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3277632	NM_000136.3(FANCC):c.863C>T (p.Pro288Leu)	AOPEP, FANCC (P288L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277631	NM_000136.3(FANCC):c.1651C>T (p.Leu551Phe)	AOPEP, FANCC (L551F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277630	NM_000136.3(FANCC):c.993G>T (p.Lys331Asn)	AOPEP, FANCC (K331N)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277629	NM_000136.3(FANCC):c.1253C>T (p.Pro418Leu)	AOPEP, FANCC (P418L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277628	NM_000136.3(FANCC):c.1616A>G (p.Glu539Gly)	AOPEP, FANCC (E539G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277626	NM_000136.3(FANCC):c.647A>G (p.Gln216Arg)	AOPEP, FANCC (Q216R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277625	NM_000136.3(FANCC):c.1610G>A (p.Gly537Asp)	AOPEP, FANCC (G537D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277624	NM_000136.3(FANCC):c.279C>A (p.Cys93Ter)	FANCC (C93*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3277623	NM_000136.3(FANCC):c.305C>A (p.Pro102Gln)	FANCC (P102Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277621	NM_000136.3(FANCC):c.706A>T (p.Met236Leu)	AOPEP, FANCC (M236L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3277620	NM_000136.3(FANCC):c.356C>G (p.Ser119Cys)	FANCC (S119C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277619	NM_000136.3(FANCC):c.1185C>G (p.Phe395Leu)	AOPEP, FANCC (F395L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277617	NM_000136.3(FANCC):c.67G>C (p.Asp23His)	FANCC (D23H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277616	NM_000136.3(FANCC):c.1375A>C (p.Ser459Arg)	AOPEP, FANCC (S459R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3277613	NM_000136.3(FANCC):c.864T>G (p.Pro288=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3277611	NM_000136.3(FANCC):c.344A>G (p.Gln115Arg)	FANCC (Q115R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3253424	NM_000136.3(FANCC):c.1377C>G (p.Ser459Arg)	AOPEP, FANCC (S459R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3245065	NC_000009.11:g.(?_97863989)_(97934439_?)dup	FANCC	Duplication	Fanconi anemia	GUncertain significance
Select item 3245064	NC_000009.11:g.(?_97863989)_(97879692_?)dup	FANCC	Duplication	Fanconi anemia	GUncertain significance
Select item 3245063	NC_000009.11:g.(?_98009694)_(98011661_?)del	FANCC	Deletion	Fanconi anemia	GPathogenic
Select item 3245062	NC_000009.11:g.(?_97912185)_(97912389_?)del	FANCC	Deletion	Fanconi anemia	GUncertain significance
Select item 3245061	NC_000009.11:g.(?_97863989)_(97864152_?)del	FANCC	Deletion	Fanconi anemia	GPathogenic
Select item 3245060	NC_000009.11:g.(?_97887348)_(97887487_?)del	FANCC	Deletion	Fanconi anemia	GPathogenic
Select item 3245058	NC_000009.12:g.(?_95101707)_(95317709_?)del	FANCC	Deletion	Fanconi anemia	GPathogenic
Select item 3245050	NC_000009.11:g.(?_97863989)_(98239149_?)dup	FANCC, PTCH1	Duplication	Gorlin syndrome	GUncertain significance
Select item 3245043	NC_000009.11:g.(?_97863989)_(98270643_?)del	FANCC, PTCH1	Deletion	Gorlin syndrome	GPathogenic
Select item 3241559	NM_000136.3(FANCC):c.177_178del (p.Val60fs)	FANCC (V60fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 3241558	NM_000136.3(FANCC):c.1297del (p.Arg433fs)	AOPEP, FANCC (R433fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 3241557	NM_000136.3(FANCC):c.1073-2A>G	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 3241556	NM_000136.3(FANCC):c.1228del (p.Gln410fs)	AOPEP, FANCC (Q410fs)	Deletion (frameshift variant)	Fanconi anemia complementation group C	GLikely pathogenic
Select item 3230405	NM_000136.3(FANCC):c.996+3T>C	FANCC, AOPEP	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230404	NM_000136.3(FANCC):c.967G>C (p.Val323Leu)	AOPEP, FANCC (V323L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230403	NM_000136.3(FANCC):c.95A>G (p.Gln32Arg)	FANCC (Q32R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230402	NM_000136.3(FANCC):c.94C>T (p.Gln32Ter)	FANCC (Q32*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230401	NM_000136.3(FANCC):c.932T>G (p.Ile311Ser)	AOPEP, FANCC (I311S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230400	NM_000136.3(FANCC):c.922G>T (p.Ala308Ser)	AOPEP, FANCC (A308S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230399	NM_000136.3(FANCC):c.907C>T (p.Leu303=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230398	NM_000136.3(FANCC):c.827T>G (p.Ile276Arg)	AOPEP, FANCC (I276R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230397	NM_000136.3(FANCC):c.816C>A (p.Ile272=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230396	NM_000136.3(FANCC):c.779A>G (p.Lys260Arg)	AOPEP, FANCC (K260R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230395	NM_000136.3(FANCC):c.774del (p.Phe258fs)	AOPEP, FANCC (F258fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GPathogenic
Select item 3230394	NM_000136.3(FANCC):c.761T>A (p.Met254Lys)	AOPEP, FANCC (M254K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230393	NM_000136.3(FANCC):c.654G>T (p.Glu218Asp)	AOPEP, FANCC (E218D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230392	NM_000136.3(FANCC):c.647A>C (p.Gln216Pro)	AOPEP, FANCC (Q216P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230391	NM_000136.3(FANCC):c.610C>A (p.Leu204Ile)	AOPEP, FANCC (L204I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230390	NM_000136.3(FANCC):c.593C>A (p.Pro198His)	AOPEP, FANCC (P198H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230389	NM_000136.3(FANCC):c.576C>A (p.Thr192=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230388	NM_000136.3(FANCC):c.541G>T (p.Ala181Ser)	AOPEP, FANCC (A181S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230387	NM_000136.3(FANCC):c.521+3A>G	FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230386	NM_000136.3(FANCC):c.480A>T (p.Glu160Asp)	FANCC (E160D)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230385	NM_000136.3(FANCC):c.463T>A (p.Leu155Ile)	FANCC (L155I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230384	NM_000136.3(FANCC):c.460G>A (p.Val154Ile)	FANCC (V154I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230383	NM_000136.3(FANCC):c.458T>A (p.Met153Lys)	FANCC (M153K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230382	NM_000136.3(FANCC):c.457-3C>T	FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230381	NM_000136.3(FANCC):c.456+3G>C	FANCC	Single nucleotide variant (intron variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230380	NM_000136.3(FANCC):c.404C>T (p.Thr135Ile)	FANCC (T135I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230379	NM_000136.3(FANCC):c.296A>G (p.Asn99Ser)	FANCC (N99S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230378	NM_000136.3(FANCC):c.278G>T (p.Cys93Phe)	FANCC (C93F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230377	NM_000136.3(FANCC):c.26C>T (p.Ser9Phe)	FANCC (S9F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230376	NM_000136.3(FANCC):c.243A>G (p.Leu81=)	FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230375	NM_000136.3(FANCC):c.209T>C (p.Leu70Pro)	FANCC (L70P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230374	NM_000136.3(FANCC):c.194C>T (p.Pro65Leu)	FANCC (P65L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230373	NM_000136.3(FANCC):c.189A>C (p.Arg63Ser)	FANCC (R63S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230372	NM_000136.3(FANCC):c.175A>G (p.Thr59Ala)	FANCC (T59A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230370	NM_000136.3(FANCC):c.1639G>A (p.Ala547Thr)	AOPEP, FANCC (A547T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230369	NM_000136.3(FANCC):c.1618A>G (p.Ser540Gly)	AOPEP, FANCC (S540G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230368	NM_000136.3(FANCC):c.1563G>A (p.Glu521=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230367	NM_000136.3(FANCC):c.1552A>T (p.Ile518Leu)	AOPEP, FANCC (I518L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230366	NM_000136.3(FANCC):c.1521T>C (p.Asp507=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230365	NM_000136.3(FANCC):c.1498G>A (p.Gly500Arg)	AOPEP, FANCC (G500R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230364	NM_000136.3(FANCC):c.146A>C (p.Tyr49Ser)	FANCC (Y49S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230363	NM_000136.3(FANCC):c.1448C>T (p.Ala483Val)	AOPEP, FANCC (A483V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230362	NM_000136.3(FANCC):c.1414G>C (p.Gly472Arg)	AOPEP, FANCC (G472R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230361	NM_000136.3(FANCC):c.137G>A (p.Arg46Lys)	FANCC (R46K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230360	NM_000136.3(FANCC):c.1298G>C (p.Arg433Pro)	AOPEP, FANCC (R433P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance

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