C8A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	ARTN, ATP6V0B +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59968	GRCh38/hg38 1p32.3-31.3(chr1:53738212-61439648)x1	ACOT11, BSND +205 more	Copy number loss	See cases	GPathogenic
Select item 149037	GRCh38/hg38 1p32.2(chr1:56429283-57190889)x3	C8A, C8B +16 more	Copy number gain	See cases	GUncertain significance
Select item 2291230	NM_000562.3(C8A):c.13G>T (p.Val5Phe)	C8A (V5F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1971415	NM_000562.3(C8A):c.23T>A (p.Ile8Asn)	C8A (I8N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1434605	NM_000562.3(C8A):c.26T>C (p.Leu9Ser)	C8A (L9S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1497805	NM_000562.3(C8A):c.52G>A (p.Val18Ile)	C8A (V18I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1388464	NM_000562.3(C8A):c.53T>C (p.Val18Ala)	C8A (V18A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2106629	NM_000562.3(C8A):c.54A>G (p.Val18=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2129660	NM_000562.3(C8A):c.60A>T (p.Ala20=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088872	NM_000562.3(C8A):c.77+5G>C	C8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908612	NM_000562.3(C8A):c.77+16G>A	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960722	NM_000562.3(C8A):c.78-10C>T	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1958634	NM_000562.3(C8A):c.88C>G (p.Arg30Gly)	C8A (R30G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1418020	NM_000562.3(C8A):c.89G>A (p.Arg30Gln)	C8A (R30Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1468000	NM_000562.3(C8A):c.92C>A (p.Ala31Glu)	C8A (A31E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1169492	NM_000562.3(C8A):c.100C>T (p.Pro34Ser)	C8A (P34S)	Single nucleotide variant (missense variant)	C8A-related condition +1 more	GBenign
Select item 2063157	NM_000562.3(C8A):c.103G>A (p.Ala35Thr)	C8A (A35T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1164179	NM_000562.3(C8A):c.107C>A (p.Ala36Glu)	C8A (A36E)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1036284	NM_000562.3(C8A):c.107C>T (p.Ala36Val)	C8A (A36V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1168914	NM_000562.3(C8A):c.108A>G (p.Ala36=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2034872	NM_000562.3(C8A):c.121C>T (p.Leu41=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2102582	NM_000562.3(C8A):c.131G>A (p.Trp44Ter)	C8A (W44*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2082959	NM_000562.3(C8A):c.147T>C (p.Asp49=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982176	NM_000562.3(C8A):c.155C>T (p.Pro52Leu)	C8A (P52L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2151181	NM_000562.3(C8A):c.156G>A (p.Pro52=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1436195	NM_000562.3(C8A):c.158G>C (p.Cys53Ser)	C8A (C53S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1121148	NM_000562.3(C8A):c.165C>A (p.Asp55Glu)	C8A (D55E)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2103615	NM_000562.3(C8A):c.170A>C (p.Lys57Thr)	C8A (K57T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 29660	NM_000562.3(C8A):c.171+1G>T	C8A	Single nucleotide variant (splice donor variant)	Type I complement component 8 deficiency	GPathogenic
Select item 1903210	NM_000562.3(C8A):c.171+7C>A	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1596232	NM_000562.3(C8A):c.171+7C>T	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1170209	NM_000562.3(C8A):c.171+8A>G	C8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1534412	NM_000562.3(C8A):c.171+9C>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3005133	NM_000562.3(C8A):c.171+18G>C	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2956340	NM_000562.3(C8A):c.171+18G>T	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1923590	NM_000562.3(C8A):c.171+18G>A	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609528	NM_000562.3(C8A):c.172-16T>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2977440	NM_000562.3(C8A):c.172-6G>C	C8A	Single nucleotide variant (intron variant)	C8A-related condition +1 more	GLikely benign
Select item 2874999	NM_000562.3(C8A):c.172-6G>A	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1905123	NM_000562.3(C8A):c.172-2A>G	C8A	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1409664	NM_000562.3(C8A):c.175C>T (p.Arg59Ter)	C8A (R59*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1666981	NM_000562.3(C8A):c.176G>A (p.Arg59Gln)	C8A (R59Q)	Single nucleotide variant (missense variant)	C8A-related condition +1 more	GBenign
Select item 1036895	NM_000562.3(C8A):c.182G>A (p.Arg61Gln)	C8A (R61Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420227	NM_000562.3(C8A):c.193C>A (p.Gln65Lys)	C8A (Q65K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2067428	NM_000562.3(C8A):c.205T>G (p.Phe69Val)	C8A (F69V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1064346	NM_000562.3(C8A):c.213_219del (p.Thr72fs)	C8A (T72fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1495434	NM_000562.3(C8A):c.231C>A (p.Asp77Glu)	C8A (D77E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2122457	NM_000562.3(C8A):c.233T>G (p.Ile78Ser)	C8A (I78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547676	NM_000562.3(C8A):c.240T>C (p.Asp80=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2196480	NM_000562.3(C8A):c.245C>A (p.Ala82Asp)	C8A (A82D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 17039	NM_000562.3(C8A):c.277C>A (p.Gln93Lys)	C8A (Q93K)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 1391350	NM_000562.3(C8A):c.284A>C (p.Gln95Pro)	C8A (Q95P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1968357	NM_000562.3(C8A):c.286T>G (p.Cys96Gly)	C8A (C96G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1958783	NM_000562.3(C8A):c.287G>A (p.Cys96Tyr)	C8A (C96Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1434768	NM_000562.3(C8A):c.311A>G (p.Glu104Gly)	C8A (E104G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1397219	NM_000562.3(C8A):c.316+3G>A	C8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1942529	NM_000562.3(C8A):c.316+4A>G	C8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1967115	NM_000562.3(C8A):c.316+7A>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1622975	NM_000562.3(C8A):c.316+9_316+23dup	C8A	Duplication (intron variant)	not provided	GLikely benign
Select item 786758	NM_000562.3(C8A):c.316+8G>A	C8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1541534	NM_000562.3(C8A):c.317-17C>T	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991172	NM_000562.3(C8A):c.317-11C>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1056494	NM_000562.3(C8A):c.319C>T (p.Arg107Cys)	C8A (R107C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2863161	NM_000562.3(C8A):c.324C>T (p.Cys108=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2521489	NM_000562.3(C8A):c.331C>T (p.Arg111Cys)	C8A (R111C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1674699	NM_000562.3(C8A):c.333C>T (p.Arg111=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1362266	NM_000562.3(C8A):c.347A>G (p.Asn116Ser)	C8A (N116S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1408285	NM_000562.3(C8A):c.353A>G (p.Asp118Gly)	C8A (D118G)	Single nucleotide variant (missense variant)	C8A-related condition +1 more	GUncertain significance
Select item 1983099	NM_000562.3(C8A):c.357G>A (p.Gln119=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003401	NM_000562.3(C8A):c.361T>G (p.Cys121Gly)	C8A (C121G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1589123	NM_000562.3(C8A):c.363C>T (p.Cys121=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2184927	NM_000562.3(C8A):c.369T>C (p.Asp123=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1408840	NM_000562.3(C8A):c.369T>A (p.Asp123Glu)	C8A (D123E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1657820	NM_000562.3(C8A):c.381G>A (p.Glu127=)	C8A	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1641496	NM_000562.3(C8A):c.384C>T (p.Asp128=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 444168	NM_000562.3(C8A):c.385G>A (p.Asp129Asn)	C8A (D129N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2312150	NM_000562.3(C8A):c.401G>T (p.Arg134Met)	C8A (R134M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136080	NM_000562.3(C8A):c.404C>T (p.Ala135Val)	C8A (A135V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2184862	NM_000562.3(C8A):c.411C>T (p.Asp137=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2103839	NM_000562.3(C8A):c.417C>T (p.Asp139=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619449	NM_000562.3(C8A):c.426G>C (p.Gln142His)	C8A (Q142H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1924559	NM_000562.3(C8A):c.442G>C (p.Gly148Arg)	C8A (G148R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424158	NM_000562.3(C8A):c.445T>C (p.Ser149Pro)	C8A (S149P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2348634	NM_000562.3(C8A):c.454G>A (p.Ala152Thr)	C8A (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1372154	NM_000562.3(C8A):c.456del (p.Ala153fs)	C8A (A153fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1500990	NM_000562.3(C8A):c.458C>T (p.Ala153Val)	C8A (A153V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956574	NM_000562.3(C8A):c.462G>A (p.Leu154=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174791	NM_000562.3(C8A):c.464+10T>C	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1168969	NM_000562.3(C8A):c.464+11G>T	C8A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2876390	NM_000562.3(C8A):c.464+19G>A	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1485376	NM_000562.3(C8A):c.465-5T>C	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2967837	NM_000562.3(C8A):c.465-4G>T	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1940493	NM_000562.3(C8A):c.465G>T (p.Gly155=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2772117	NM_000562.3(C8A):c.468C>T (p.Tyr156=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3005158	NM_000562.3(C8A):c.474C>T (p.Ile158=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2806321	NM_000562.3(C8A):c.475C>T (p.Leu159=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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