Related gene-specific medical variations 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3230360	NM_000136.3(FANCC):c.1298G>C (p.Arg433Pro)	AOPEP, FANCC (R433P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230359	NM_000136.3(FANCC):c.1295C>T (p.Pro432Leu)	AOPEP, FANCC (P432L)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230358	NM_000136.3(FANCC):c.1261G>T (p.Ala421Ser)	AOPEP, FANCC (A421S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230357	NM_000136.3(FANCC):c.1167T>C (p.Gly389=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230356	NM_000136.3(FANCC):c.1157C>G (p.Ser386Cys)	AOPEP, FANCC (S386C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230354	NM_000136.3(FANCC):c.1073A>G (p.Asp358Gly)	AOPEP, FANCC (D358G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230353	NM_000136.3(FANCC):c.1035_1037del (p.Pro346del)	AOPEP, FANCC (P346del)	Deletion (inframe_deletion +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230352	NM_000136.3(FANCC):c.1019A>C (p.Tyr340Ser)	AOPEP, FANCC (Y340S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230351	NM_000136.3(FANCC):c.1015A>T (p.Thr339Ser)	AOPEP, FANCC (T339S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3040319	NM_000136.3(FANCC):c.1329+126T>C	AOPEP, FANCC	Single nucleotide variant (synonymous variant +1 more)	FANCC-related disorder	GLikely benign
Select item 3036969	NM_000136.3(FANCC):c.1329+198G>T	AOPEP, FANCC	Single nucleotide variant (synonymous variant +1 more)	FANCC-related disorder	GLikely benign
Select item 3031534	NM_000136.3(FANCC):c.1329+144G>A	AOPEP, FANCC	Single nucleotide variant (synonymous variant +1 more)	FANCC-related disorder	GLikely benign
Select item 3029526	NM_000136.3(FANCC):c.1329+207C>T	AOPEP, FANCC	Single nucleotide variant (synonymous variant +1 more)	FANCC-related disorder	GLikely benign
Select item 3018787	NM_000136.3(FANCC):c.1228C>T (p.Gln410Ter)	AOPEP, FANCC (Q410*)	Single nucleotide variant (nonsense)	Fanconi anemia	GPathogenic
Select item 3017501	NM_000136.3(FANCC):c.843+16T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3015737	NM_000136.3(FANCC):c.897-12T>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GUncertain significance
Select item 3014841	NM_000136.3(FANCC):c.686+17T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 3009835	NM_000136.3(FANCC):c.753A>G (p.Glu251=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 3009822	NM_000136.3(FANCC):c.1154G>A (p.Gly385Glu)	AOPEP, FANCC (G385E)	Single nucleotide variant (missense variant)	Fanconi anemia	GUncertain significance
Select item 2999106	NM_000136.3(FANCC):c.897-11G>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2997502	NM_000136.3(FANCC):c.844-15C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2996768	NM_000136.3(FANCC):c.996+8dup	AOPEP, FANCC	Duplication (intron variant)	Fanconi anemia	GLikely benign
Select item 2975200	NM_000136.3(FANCC):c.1329+16C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2974563	NM_000136.3(FANCC):c.1073-9C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2969158	NM_000136.3(FANCC):c.687-15A>G	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2968052	NM_000136.3(FANCC):c.844-18G>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2959622	NM_000136.3(FANCC):c.1154+12C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2915126	NM_000136.3(FANCC):c.1329+18C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2913031	NM_000136.3(FANCC):c.1330-13T>C	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2910228	NM_000136.3(FANCC):c.844-1G>A	AOPEP, FANCC	Single nucleotide variant (splice acceptor variant)	Fanconi anemia +1 more	GPathogenic/Likely pathogenic
Select item 2909967	NM_000136.3(FANCC):c.1473C>T (p.Leu491=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia	GLikely benign
Select item 2909897	NM_000136.3(FANCC):c.1395G>A (p.Gln465=)	AOPEP, FANCC	Single nucleotide variant (synonymous variant)	Fanconi anemia +1 more	GLikely benign
Select item 2900078	NM_000136.3(FANCC):c.997-14C>A	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2899893	NM_000136.3(FANCC):c.1533+1G>A	AOPEP, FANCC	Single nucleotide variant (splice donor variant)	Fanconi anemia	GPathogenic
Select item 2899484	NM_000136.3(FANCC):c.1155-12C>T	AOPEP, FANCC	Single nucleotide variant (intron variant)	Fanconi anemia	GLikely benign
Select item 2898775	NM_000136.3(FANCC):c.992_995dup (p.Leu333fs)	FANCC, AOPEP (L333fs)	Microsatellite (frameshift variant)	Fanconi anemia	GPathogenic

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