ClinVar for Gene (Select 775) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3069192	NM_000719.7(CACNA1C):c.2750T>G (p.Leu917Arg)	CACNA1C (L914R +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 3066281	NM_000719.7(CACNA1C):c.788A>T (p.Lys263Met)	CACNA1C (K263M)	Single nucleotide variant (missense variant)	Timothy syndrome	GLikely pathogenic
Select item 3063259	GRCh37/hg19 12p13.33-13.31(chr12:2246103-5406692)x1	AKAP3, CACNA1C +23 more	Copy number loss	not specified	GLikely pathogenic
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 3060892	NM_000719.7(CACNA1C):c.5766G>A (p.Leu1922=)	CACNA1C-AS1, CACNA1C	Single nucleotide variant (synonymous variant)	CACNA1C-related disorder	GLikely benign
Select item 3054576	NM_000719.7(CACNA1C):c.4727-50C>T	CACNA1C	Single nucleotide variant (synonymous variant +1 more)	CACNA1C-related disorder	GLikely benign
Select item 3049284	NM_000719.7(CACNA1C):c.3946-28T>C	CACNA1C	Single nucleotide variant (synonymous variant +1 more)	CACNA1C-related disorder	GLikely benign
Select item 3039929	NM_000719.7(CACNA1C):c.3598C>T (p.Arg1200Trp)	CACNA1C (R1197W +2 more)	Single nucleotide variant (missense variant)	CACNA1C-related disorder	GUncertain significance
Select item 3036498	NM_000719.7(CACNA1C):c.3284A>G (p.Lys1095Arg)	CACNA1C (K1092R +2 more)	Single nucleotide variant (missense variant)	CACNA1C-related disorder	GUncertain significance
Select item 3029478	NM_000719.7(CACNA1C):c.3886G>A (p.Val1296Ile)	CACNA1C (V1296I +3 more)	Single nucleotide variant (missense variant +1 more)	CACNA1C-related disorder	GUncertain significance
Select item 3027509	NM_000719.7(CACNA1C):c.731C>G (p.Pro244Arg)	CACNA1C (P244R)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures	GLikely pathogenic
Select item 3026949	NM_000719.7(CACNA1C):c.5444+675G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3026161	NM_000719.7(CACNA1C):c.1473C>T (p.Ala491=)	CACNA1C	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025984	NM_000719.7(CACNA1C):c.2825C>G (p.Thr942Ser)	CACNA1C (T939S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3021887	NM_000719.7(CACNA1C):c.1776C>T (p.Asp592=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3021846	NM_000719.7(CACNA1C):c.5785-12G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3021834	NM_000719.7(CACNA1C):c.457A>G (p.Asn153Asp)	CACNA1C (N153D)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3019387	NM_000719.7(CACNA1C):c.1531C>T (p.Arg511Trp)	CACNA1C (R511W +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3018296	NM_000719.7(CACNA1C):c.2002C>T (p.Leu668=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3016956	NM_000719.7(CACNA1C):c.6202G>A (p.Asp2068Asn)	CACNA1C, CACNA1C-AS1 (D2085N +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3016203	NM_000719.7(CACNA1C):c.2723T>C (p.Phe908Ser)	CACNA1C (F905S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3015905	NM_000719.7(CACNA1C):c.2339+11A>C	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3014061	NM_000719.7(CACNA1C):c.1892C>T (p.Thr631Met)	CACNA1C (T631M +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3012697	NM_000719.7(CACNA1C):c.4071C>T (p.Phe1357=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3012478	NM_000719.7(CACNA1C):c.2481G>C (p.Gln827His)	CACNA1C (Q824H +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3010825	NM_000719.7(CACNA1C):c.5525A>C (p.Asn1842Thr)	CACNA1C, CACNA1C-AS1 (N1877T +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3010745	NM_000719.7(CACNA1C):c.1455G>C (p.Glu485Asp)	CACNA1C (E485D +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 3008685	NM_000719.7(CACNA1C):c.962G>A (p.Gly321Asp)	CACNA1C (G321D +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3008160	NM_000719.7(CACNA1C):c.5416G>A (p.Glu1806Lys)	CACNA1C, CACNA1C-AS1 (E1806K +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3004740	NM_000719.7(CACNA1C):c.4056C>T (p.Thr1352=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3004143	NM_000719.7(CACNA1C):c.5680+12G>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 3003956	NM_000719.7(CACNA1C):c.1252C>A (p.Arg418=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 3003830	NM_000719.7(CACNA1C):c.6359G>C (p.Arg2120Pro)	CACNA1C, CACNA1C-AS1 (R2109P +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 3003164	NM_000719.7(CACNA1C):c.4312A>G (p.Ser1438Gly)	CACNA1C (S1425G +8 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3001262	NM_000719.7(CACNA1C):c.4522G>A (p.Ala1508Thr)	CACNA1C (A1495T +8 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 3000756	NM_000719.7(CACNA1C):c.4141-18C>G	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2999217	NM_000719.7(CACNA1C):c.49+6G>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 2998492	NM_000719.7(CACNA1C):c.1663G>T (p.Val555Phe)	CACNA1C (V552F +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2998216	NM_000719.7(CACNA1C):c.5574-16G>A	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2997997	NM_000719.7(CACNA1C):c.1194C>T (p.Asn398=)	CACNA1C	Single nucleotide variant (synonymous variant +1 more)	Long QT syndrome	GLikely benign
Select item 2996376	NM_000719.7(CACNA1C):c.12G>C (p.Glu4Asp)	CACNA1C (E4D)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2996224	NM_000719.7(CACNA1C):c.3150C>T (p.Leu1050=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2995048	NM_000719.7(CACNA1C):c.3627G>T (p.Gln1209His)	CACNA1C (Q1206H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2994715	NM_000719.7(CACNA1C):c.3049-17G>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2994309	NM_000719.7(CACNA1C):c.3157-8C>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2993399	NM_000719.7(CACNA1C):c.3263C>A (p.Pro1088His)	CACNA1C (P1085H +2 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2993331	NM_000719.7(CACNA1C):c.3945+17C>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2992479	NM_000719.7(CACNA1C):c.4632C>T (p.Val1544=)	CACNA1C, CACNA1C-AS2	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2991246	NM_000719.7(CACNA1C):c.3681C>T (p.Val1227=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2991013	NM_000719.7(CACNA1C):c.6262C>G (p.Gln2088Glu)	CACNA1C, CACNA1C-AS1 (Q2088E +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2990814	NM_000719.7(CACNA1C):c.6118-11C>G	CACNA1C, CACNA1C-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GLikely benign
Select item 2986947	NM_000719.7(CACNA1C):c.1706C>T (p.Ala569Val)	CACNA1C (A569V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2985902	NM_000719.7(CACNA1C):c.5092-4A>T	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2985530	NM_000719.7(CACNA1C):c.5884C>A (p.Arg1962=)	CACNA1C, CACNA1C-AS1	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2984071	NM_000719.7(CACNA1C):c.758-7C>G	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2981807	NM_000719.7(CACNA1C):c.2225-12G>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2981457	NM_000719.7(CACNA1C):c.1217+9G>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2979975	NM_000719.7(CACNA1C):c.372-17T>C	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2979760	NM_000719.7(CACNA1C):c.1785C>G (p.Val595=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2978787	NM_000719.7(CACNA1C):c.2460+11G>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2977824	NM_000719.7(CACNA1C):c.2323A>C (p.Arg775=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2977481	NM_000719.7(CACNA1C):c.2330A>G (p.Lys777Arg)	CACNA1C (K774R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2977138	NM_000719.7(CACNA1C):c.847G>T (p.Ala283Ser)	CACNA1C (A283S)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2973922	NM_000719.7(CACNA1C):c.6200G>A (p.Cys2067Tyr)	CACNA1C-AS1, CACNA1C (C2087Y +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2973366	NM_000719.7(CACNA1C):c.5000G>A (p.Arg1667Gln)	CACNA1C, CACNA1C-AS1 (R1656Q +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2973250	NM_000719.7(CACNA1C):c.4416A>G (p.Val1472=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2973109	NM_000719.7(CACNA1C):c.617+15_617+18del	CACNA1C	Microsatellite (intron variant)	Long QT syndrome	GLikely benign
Select item 2973027	NM_000719.7(CACNA1C):c.2592G>A (p.Glu864=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2972028	NM_000719.7(CACNA1C):c.5500G>A (p.Asp1834Asn)	CACNA1C, CACNA1C-AS1 (D1842N +13 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2971587	NM_000719.7(CACNA1C):c.98A>C (p.Asn33Thr)	CACNA1C (N33T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2968888	NM_000719.7(CACNA1C):c.3049-18C>G	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2964981	NM_000719.7(CACNA1C):c.2644A>G (p.Ile882Val)	CACNA1C (I882V +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2964194	NM_000719.7(CACNA1C):c.2405A>G (p.Glu802Gly)	CACNA1C (E802G +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2963008	NM_000719.7(CACNA1C):c.5680+12G>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2962926	NM_000719.7(CACNA1C):c.1114-295G>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2962690	NM_000719.7(CACNA1C):c.1770C>T (p.Arg590=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2962345	NM_000719.7(CACNA1C):c.1481+10C>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2959055	NM_000719.7(CACNA1C):c.118C>A (p.Pro40Thr)	CACNA1C (P40T)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2958179	NM_000719.7(CACNA1C):c.2348G>T (p.Ser783Ile)	CACNA1C (S780I +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2957129	NM_000719.7(CACNA1C):c.3048+5G>A	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 2955250	NM_000719.7(CACNA1C):c.4015C>T (p.Leu1339=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2921274	NM_000719.7(CACNA1C):c.4873C>T (p.Gln1625Ter)	CACNA1C, CACNA1C-AS1 (Q1614* +10 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 2920345	NM_000719.7(CACNA1C):c.1000C>T (p.Pro334Ser)	CACNA1C (P331S +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2919446	NM_000719.7(CACNA1C):c.950C>A (p.Ala317Glu)	CACNA1C (A314E +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2918218	NM_000719.7(CACNA1C):c.4164T>C (p.Asn1388=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2918215	NM_000719.7(CACNA1C):c.3621G>A (p.Gln1207=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2918101	NM_000719.7(CACNA1C):c.3718-14C>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2917132	NM_000719.7(CACNA1C):c.2585T>C (p.Leu862Pro)	CACNA1C (L859P +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2916869	NM_000719.7(CACNA1C):c.673G>A (p.Gly225Arg)	CACNA1C (G225R)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2916496	NM_000719.7(CACNA1C):c.6172G>C (p.Val2058Leu)	CACNA1C, CACNA1C-AS1 (V2047L +13 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2915552	NM_000719.7(CACNA1C):c.5321C>T (p.Ala1774Val)	CACNA1C, CACNA1C-AS1 (A1793V +10 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 2914512	NM_000719.7(CACNA1C):c.4726+6G>T	CACNA1C, CACNA1C-AS2	Single nucleotide variant (intron variant)	Long QT syndrome	GUncertain significance
Select item 2914168	NM_000719.7(CACNA1C):c.3559-14C>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2911687	NM_000719.7(CACNA1C):c.1895+15del	CACNA1C	Deletion (intron variant)	Long QT syndrome	GBenign
Select item 2910923	NM_000719.7(CACNA1C):c.266C>T (p.Pro89Leu)	CACNA1C (P89L)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance
Select item 2910737	NM_000719.7(CACNA1C):c.3559-5C>T	CACNA1C	Single nucleotide variant (intron variant)	Long QT syndrome	GLikely benign
Select item 2909577	NM_000719.7(CACNA1C):c.2845G>T (p.Ala949Ser)	CACNA1C (A946S +1 more)	Single nucleotide variant (missense variant +1 more)	Long QT syndrome	GUncertain significance
Select item 2909023	NM_000719.7(CACNA1C):c.5091+18G>C	CACNA1C, CACNA1C-AS1	Single nucleotide variant (intron variant +1 more)	Long QT syndrome	GLikely benign
Select item 2908546	NM_000719.7(CACNA1C):c.3018G>A (p.Leu1006=)	CACNA1C	Single nucleotide variant (synonymous variant)	Long QT syndrome	GLikely benign
Select item 2908195	NM_000719.7(CACNA1C):c.1456G>A (p.Gly486Arg)	CACNA1C (G483R +1 more)	Single nucleotide variant (missense variant)	Long QT syndrome	GUncertain significance

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