ClinVar for Gene (Select 731) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3262549	NM_000562.3(C8A):c.1019A>G (p.His340Arg)	C8A (H340R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262548	NM_000562.3(C8A):c.1254C>A (p.Asp418Glu)	C8A (D418E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262547	NM_000562.3(C8A):c.1381A>G (p.Met461Val)	C8A (M461V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3262546	NM_000562.3(C8A):c.922A>G (p.Ile308Val)	C8A (I308V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3247897	NC_000001.10:g.(?_57372320)_(57378318_?)del	C8A	Deletion	not provided	GUncertain significance
Select item 3247870	NC_000001.10:g.(?_57320575)_(57411754_?)del	C8A, C8B	Deletion	not provided	GUncertain significance
Select item 3136081	NM_000562.3(C8A):c.641A>G (p.Lys214Arg)	C8A (K214R)	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 3136078	NM_000562.3(C8A):c.1616A>G (p.Asp539Gly)	C8A (D539G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136077	NM_000562.3(C8A):c.1498G>A (p.Gly500Arg)	C8A (G500R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136076	NM_000562.3(C8A):c.1247T>C (p.Val416Ala)	C8A (V416A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136075	NM_000562.3(C8A):c.1171G>A (p.Gly391Ser)	C8A (G391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062922	GRCh37/hg19 1p32.2(chr1:57250058-57377172)x3	C8A, FYB2	Copy number gain	not specified	GUncertain significance
Select item 3039577	NM_000562.3(C8A):c.1278C>T (p.Gly426=)	C8A	Single nucleotide variant (synonymous variant)	C8A-related disorder	GLikely benign
Select item 3009370	NM_000562.3(C8A):c.1435A>T (p.Lys479Ter)	C8A (K479*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3005158	NM_000562.3(C8A):c.474C>T (p.Ile158=)	C8A	Single nucleotide variant (synonymous 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 2999998	NM_000562.3(C8A):c.832G>T (p.Glu278Ter)	C8A (E278*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2991172	NM_000562.3(C8A):c.317-11C>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988105	NM_000562.3(C8A):c.1194T>C (p.His398=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2979992	NM_000562.3(C8A):c.756C>T (p.Ile252=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977440	NM_000562.3(C8A):c.172-6G>C	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2968639	NM_000562.3(C8A):c.579del (p.Cys194fs)	C8A (C194fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2967837	NM_000562.3(C8A):c.465-4G>T	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2966773	NM_000562.3(C8A):c.565C>T (p.Arg189Ter)	C8A (R189*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2961734	NM_000562.3(C8A):c.1152T>A (p.Tyr384Ter)	C8A (Y384*)	Single nucleotide variant (nonsense)	Type I complement component 8 deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2960225	NM_000562.3(C8A):c.1748C>T (p.Ala583Val)	C8A (A583V)	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 2956340	NM_000562.3(C8A):c.171+18G>T	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2905639	NM_000562.3(C8A):c.493C>T (p.Gln165Ter)	C8A (Q165*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2904879	NM_000562.3(C8A):c.480C>A (p.Thr160=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884337	NM_000562.3(C8A):c.1138T>C (p.Leu380=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876390	NM_000562.3(C8A):c.464+19G>A	C8A	Single nucleotide variant (intron variant)	not provided	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 2871863	NM_000562.3(C8A):c.1223-16A>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869589	NM_000562.3(C8A):c.1222+13T>C	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867578	NM_000562.3(C8A):c.655-16T>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867575	NM_000562.3(C8A):c.1079del (p.Ala360fs)	C8A (A360fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2866488	NM_000562.3(C8A):c.783A>G (p.Leu261=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2863161	NM_000562.3(C8A):c.324C>T (p.Cys108=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2861293	NM_000562.3(C8A):c.1097-17C>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855376	NM_000562.3(C8A):c.996G>A (p.Lys332=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2840788	NM_000562.3(C8A):c.498T>C (p.Ser166=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809688	NM_000562.3(C8A):c.1421_1422insCA (p.Pro475fs)	C8A (P475fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 2806321	NM_000562.3(C8A):c.475C>T (p.Leu159=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2794983	NM_000562.3(C8A):c.1222+16T>C	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2790053	NM_000562.3(C8A):c.856-12G>T	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2772117	NM_000562.3(C8A):c.468C>T (p.Tyr156=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764452	NM_000562.3(C8A):c.1222+14A>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2738432	NM_000562.3(C8A):c.1590A>G (p.Gln530=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720051	NM_000562.3(C8A):c.1096+6T>C	C8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 2630502	NM_000562.3(C8A):c.482A>G (p.Gln161Arg)	C8A (Q161R)	Single nucleotide variant (missense variant)	C8A-related disorder	GUncertain significance
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 2608975	NM_000562.3(C8A):c.586C>A (p.Arg196Ser)	C8A (R196S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588723	NM_000562.3(C8A):c.619C>T (p.Arg207Trp)	C8A (R207W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2512557	NM_000562.3(C8A):c.1456G>A (p.Ala486Thr)	C8A (A486T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474007	NM_000562.3(C8A):c.767C>A (p.Pro256Gln)	C8A (P256Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2423328	NC_000001.10:g.(?_57351580)_(57351860_?)del	C8A	Deletion	not provided	GPathogenic
Select item 2421533	NM_000562.3(C8A):c.1744C>T (p.Gln582Ter)	C8A (Q582*)	Single nucleotide variant (nonsense)	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 2348634	NM_000562.3(C8A):c.454G>A (p.Ala152Thr)	C8A (A152T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336868	NM_000562.3(C8A):c.626C>G (p.Pro209Arg)	C8A (P209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316615	NM_000562.3(C8A):c.1124G>A (p.Cys375Tyr)	C8A (C375Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315445	NM_000562.3(C8A):c.1424C>T (p.Pro475Leu)	C8A (P475L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2310124	NM_000562.3(C8A):c.1651T>C (p.Cys551Arg)	C8A (C551R)	Single nucleotide variant (missense variant)	not specified	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 2276872	NM_000562.3(C8A):c.536C>G (p.Thr179Arg)	C8A (T179R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274094	NM_000562.3(C8A):c.586C>T (p.Arg196Cys)	C8A (R196C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258393	NM_000562.3(C8A):c.731A>C (p.Lys244Thr)	C8A (K244T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2196473	NM_000562.3(C8A):c.980A>T (p.Tyr327Phe)	C8A (Y327F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188139	NM_000562.3(C8A):c.1311C>T (p.Asn437=)	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 2184862	NM_000562.3(C8A):c.411C>T (p.Asp137=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2181712	NM_000562.3(C8A):c.1367T>C (p.Val456Ala)	C8A (V456A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2174791	NM_000562.3(C8A):c.464+10T>C	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2173696	NM_000562.3(C8A):c.1168G>A (p.Val390Ile)	C8A (V390I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2167895	NM_000562.3(C8A):c.1222+1G>A	C8A	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2166318	NM_000562.3(C8A):c.918T>C (p.Asp306=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2151181	NM_000562.3(C8A):c.156G>A (p.Pro52=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2139861	NM_000562.3(C8A):c.848A>G (p.Asn283Ser)	C8A (N283S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2134142	NM_000562.3(C8A):c.1517G>A (p.Gly506Glu)	C8A (G506E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2133599	NM_000562.3(C8A):c.856-3C>A	C8A	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2132369	NM_000562.3(C8A):c.1096+17C>T	C8A	Single nucleotide variant (intron 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 2129255	NM_000562.3(C8A):c.1604-12T>C	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2125785	NM_000562.3(C8A):c.618T>C (p.Phe206=)	C8A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2123457	NM_000562.3(C8A):c.1223-18T>G	C8A	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2121700	NM_000562.3(C8A):c.1355A>G (p.Tyr452Cys)	C8A (Y452C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117065	NM_000562.3(C8A):c.479C>T (p.Thr160Ile)	C8A (T160I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2115665	NM_000562.3(C8A):c.1475T>C (p.Met492Thr)	C8A (M492T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110782	NM_000562.3(C8A):c.1213G>T (p.Gly405Cys)	C8A (G405C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110004	NM_000562.3(C8A):c.934G>A (p.Glu312Lys)	C8A (E312K)	Single nucleotide variant (missense variant)	not provided	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 2103839	NM_000562.3(C8A):c.417C>T (p.Asp139=)	C8A	Single nucleotide variant (synonymous 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

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