8912[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59410	GRCh38/hg38 16p13.3(chr16:23141-1712523)x1	ANTKMT, ARHGDIG +194 more	Copy number loss	See cases	GPathogenic
Select item 59409	GRCh38/hg38 16p13.3(chr16:23141-1773349)x1	ANTKMT, ARHGDIG +210 more	Copy number loss	See cases	GPathogenic
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	LOC130058535, LOC130058536 +916 more	Copy number gain	See cases	GPathogenic
Select item 148760	GRCh38/hg38 16p13.3(chr16:46722-1867327)x1	ANTKMT, ARHGDIG +224 more	Copy number loss	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 145576	GRCh38/hg38 16p13.3(chr16:46766-1544014)x1	ANTKMT, ARHGDIG +179 more	Copy number loss	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	LOC105371046, LOC105371050 +842 more	Copy number gain	See cases	GPathogenic
Select item 59411	GRCh38/hg38 16p13.3(chr16:46766-1997582)x1	ANTKMT, ARHGDIG +253 more	Copy number loss	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 152879	GRCh38/hg38 16p13.3(chr16:59980-1221651)x1	ANTKMT, ARHGDIG +130 more	Copy number loss	See cases	GPathogenic
Select item 59425	GRCh38/hg38 16p13.3(chr16:105429-1499893)x1	ANTKMT, ARHGDIG +164 more	Copy number loss	See cases	GPathogenic
Select item 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	LOC130058149, LOC130058150 +925 more	Copy number gain	See cases	GPathogenic
Select item 154391	GRCh38/hg38 16p13.3(chr16:925267-1324901)x3	C1QTNF8, CACNA1H +27 more	Copy number gain	See cases	GUncertain significance
Select item 1275909	NM_021098.3(CACNA1H):c.-159GGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG[1]	CACNA1H	Microsatellite (5 prime UTR variant)	not provided	GBenign
Select item 2139547	NM_021098.3(CACNA1H):c.5C>A (p.Thr2Asn)	CACNA1H (T2N)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 767007	NM_021098.3(CACNA1H):c.6C>T (p.Thr2=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1022352	NM_021098.3(CACNA1H):c.13G>T (p.Ala5Ser)	CACNA1H (A5S)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 800247	NM_021098.3(CACNA1H):c.13G>A (p.Ala5Thr)	CACNA1H (A5T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1555761	NM_021098.3(CACNA1H):c.15A>C (p.Ala5=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1083207	NM_021098.3(CACNA1H):c.16C>A (p.Arg6=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 1956954	NM_021098.3(CACNA1H):c.17G>A (p.Arg6Gln)	CACNA1H (R6Q)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 1161967	NM_021098.3(CACNA1H):c.21C>G (p.Ala7=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1134904	NM_021098.3(CACNA1H):c.21C>A (p.Ala7=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 1107712	NM_021098.3(CACNA1H):c.21C>T (p.Ala7=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 572250	NM_021098.3(CACNA1H):c.28G>A (p.Glu10Lys)	CACNA1H (E10K)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2645876	NM_021098.3(CACNA1H):c.31G>C (p.Val11Leu)	CACNA1H (V11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1080586	NM_021098.3(CACNA1H):c.36G>C (p.Arg12=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 460104	NM_021098.3(CACNA1H):c.39G>A (p.Val13=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1435382	NM_021098.3(CACNA1H):c.40C>T (p.Pro14Ser)	CACNA1H (P14S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1475245	NM_021098.3(CACNA1H):c.41C>T (p.Pro14Leu)	CACNA1H (P14L)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 1585060	NM_021098.3(CACNA1H):c.42C>T (p.Pro14=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 779734	NM_021098.3(CACNA1H):c.43C>T (p.Leu15=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +2 more	GLikely benign
Select item 957487	NM_021098.3(CACNA1H):c.48C>T (p.Gly16=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2528995	NM_021098.3(CACNA1H):c.52C>T (p.Pro18Ser)	CACNA1H (P18S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2940846	NM_021098.3(CACNA1H):c.54G>T (p.Pro18=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2939506	NM_021098.3(CACNA1H):c.54G>A (p.Pro18=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 1432054	NM_021098.3(CACNA1H):c.56C>G (p.Pro19Arg)	CACNA1H (P19R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2938907	NM_021098.3(CACNA1H):c.59C>G (p.Pro20Arg)	CACNA1H (P20R)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 529645	NM_021098.3(CACNA1H):c.63C>T (p.Gly21=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2150390	NM_021098.3(CACNA1H):c.65C>G (p.Pro22Arg)	CACNA1H (P22R)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 1436568	NM_021098.3(CACNA1H):c.73T>G (p.Leu25Val)	CACNA1H (L25V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2950267	NM_021098.3(CACNA1H):c.75G>A (p.Leu25=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1158578	NM_021098.3(CACNA1H):c.81G>A (p.Gly27=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 804677	NM_021098.3(CACNA1H):c.86C>T (p.Ser29Phe)	CACNA1H (S29F)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +3 more	GUncertain significance
Select item 2020150	NM_021098.3(CACNA1H):c.90G>A (p.Pro30=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GBenign
Select item 2309681	NM_021098.3(CACNA1H):c.92A>G (p.Glu31Gly)	CACNA1H (E31G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 460195	NM_021098.3(CACNA1H):c.93G>A (p.Glu31=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 949282	NM_021098.3(CACNA1H):c.97C>T (p.Pro33Ser)	CACNA1H (P33S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GBenign
Select item 1962856	NM_021098.3(CACNA1H):c.99C>T (p.Pro33=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 1108214	NM_021098.3(CACNA1H):c.99C>G (p.Pro33=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1430418	NM_021098.3(CACNA1H):c.100G>T (p.Gly34Trp)	CACNA1H (G34W)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 1148232	NM_021098.3(CACNA1H):c.105G>A (p.Ala35=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1985803	NM_021098.3(CACNA1H):c.107C>T (p.Pro36Leu)	CACNA1H (P36L)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GBenign
Select item 460039	NM_021098.3(CACNA1H):c.108G>C (p.Pro36=)	CACNA1H	Single nucleotide variant (synonymous variant)	CACNA1H-related disorder +3 more	GBenign/Likely benign
Select item 2007030	NM_021098.3(CACNA1H):c.111A>G (p.Gly37=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2005533	NM_021098.3(CACNA1H):c.113_114delinsTT (p.Arg38Leu)	CACNA1H (R38L)	Indel (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1087644	NM_021098.3(CACNA1H):c.126G>C (p.Arg42=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 999982	NM_021098.3(CACNA1H):c.128G>T (p.Gly43Val)	CACNA1H (G43V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2130076	NM_021098.3(CACNA1H):c.129G>C (p.Gly43=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1606898	NM_021098.3(CACNA1H):c.129G>A (p.Gly43=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 648465	NM_021098.3(CACNA1H):c.131C>T (p.Ser44Phe)	CACNA1H (S44F)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 748750	NM_021098.3(CACNA1H):c.132C>T (p.Ser44=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GLikely benign
Select item 2066063	NM_021098.3(CACNA1H):c.135G>A (p.Glu45=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 1043953	NM_021098.3(CACNA1H):c.135G>T (p.Glu45Asp)	CACNA1H (E45D)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 751767	NM_021098.3(CACNA1H):c.138C>T (p.Leu46=)	CACNA1H	Single nucleotide variant (synonymous variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GLikely benign
Select item 1519014	NM_021098.3(CACNA1H):c.140G>T (p.Gly47Val)	CACNA1H (G47V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 529599	NM_021098.3(CACNA1H):c.140G>C (p.Gly47Ala)	CACNA1H (G47A)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1033976	NM_021098.3(CACNA1H):c.145T>C (p.Ser49Pro)	CACNA1H (S49P)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6	GUncertain significance
Select item 1433668	NM_021098.3(CACNA1H):c.148C>T (p.Pro50Ser)	CACNA1H (P50S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 574192	NM_021098.3(CACNA1H):c.149C>T (p.Pro50Leu)	CACNA1H (P50L)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 1642193	NM_021098.3(CACNA1H):c.150C>T (p.Pro50=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 1425823	NM_021098.3(CACNA1H):c.151T>G (p.Ser51Ala)	CACNA1H (S51A)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GBenign
Select item 1562173	NM_021098.3(CACNA1H):c.153C>T (p.Ser51=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 1933253	NM_021098.3(CACNA1H):c.161C>T (p.Pro54Leu)	CACNA1H (P54L)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 1113675	NM_021098.3(CACNA1H):c.168C>T (p.Ala56=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 529580	NM_021098.3(CACNA1H):c.171G>T (p.Glu57Asp)	CACNA1H (E57D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1803524	NM_021098.3(CACNA1H):c.172C>G (p.Arg58Gly)	CACNA1H (R58G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1611182	NM_021098.3(CACNA1H):c.174C>T (p.Arg58=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 1351527	NM_021098.3(CACNA1H):c.175G>T (p.Gly59Cys)	CACNA1H (G59C)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6 +2 more	GConflicting classifications of pathogenicity
Select item 2266598	NM_021098.3(CACNA1H):c.176G>C (p.Gly59Ala)	CACNA1H (G59A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 771082	NM_021098.3(CACNA1H):c.177C>T (p.Gly59=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GBenign
Select item 2930326	NM_021098.3(CACNA1H):c.179C>T (p.Ala60Val)	CACNA1H (A60V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 529649	NM_021098.3(CACNA1H):c.180G>C (p.Ala60=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +2 more	GConflicting classifications of pathogenicity
Select item 2939950	NM_021098.3(CACNA1H):c.193G>T (p.Asp65Tyr)	CACNA1H (D65Y)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 665417	NM_021098.3(CACNA1H):c.193G>A (p.Asp65Asn)	CACNA1H (D65N)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2952951	NM_021098.3(CACNA1H):c.194A>G (p.Asp65Gly)	CACNA1H (D65G)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 1538873	NM_021098.3(CACNA1H):c.195C>T (p.Asp65=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 1160573	NM_021098.3(CACNA1H):c.210C>G (p.Val70=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2928106	NM_021098.3(CACNA1H):c.212C>A (p.Pro71Gln)	CACNA1H (P71Q)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 978518	NM_021098.3(CACNA1H):c.212C>G (p.Pro71Arg)	CACNA1H (P71R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +3 more	GUncertain significance
Select item 648914	NM_021098.3(CACNA1H):c.217C>T (p.Pro73Ser)	CACNA1H (P73S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2246180	NM_021098.3(CACNA1H):c.220G>T (p.Ala74Ser)	CACNA1H (A74S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 708182	NM_021098.3(CACNA1H):c.221C>T (p.Ala74Val)	CACNA1H (A74V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 452516	NM_021098.3(CACNA1H):c.226G>A (p.Ala76Thr)	CACNA1H (A76T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2940740	NM_021098.3(CACNA1H):c.229G>A (p.Ala77Thr)	CACNA1H (A77T)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 834465	NM_021098.3(CACNA1H):c.229G>T (p.Ala77Ser)	CACNA1H (A77S)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 1357926	NM_021098.3(CACNA1H):c.230C>T (p.Ala77Val)	CACNA1H (A77V)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 1698269	NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys)	CACNA1H (T78K)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +2 more	GUncertain significance

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