ClinVar for Gene (Select 8912) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372143	NM_021098.3(CACNA1H):c.2299G>A (p.Ala767Thr)	CACNA1H (A767T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371747	NM_021098.3(CACNA1H):c.5563G>A (p.Val1855Met)	CACNA1H (V1849M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3371396	NM_021098.3(CACNA1H):c.5071C>A (p.Leu1691Met)	CACNA1H (L1685M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370744	NM_021098.3(CACNA1H):c.3106G>T (p.Val1036Phe)	CACNA1H (V1036F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370713	NM_021098.3(CACNA1H):c.1225T>G (p.Phe409Val)	CACNA1H (F409V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3370343	NM_021098.3(CACNA1H):c.4916A>G (p.Tyr1639Cys)	CACNA1H (Y1633C +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV	GUncertain significance
Select item 3368869	NM_021098.3(CACNA1H):c.5361G>T (p.Arg1787Ser)	CACNA1H (R1781S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368261	NM_021098.3(CACNA1H):c.3864G>A (p.Gln1288=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3367441	NM_021098.3(CACNA1H):c.1906T>C (p.Trp636Arg)	CACNA1H (W636R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366241	NM_021098.3(CACNA1H):c.3509A>G (p.Glu1170Gly)	CACNA1H (E1170G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366047	NM_021098.3(CACNA1H):c.2210G>C (p.Gly737Ala)	CACNA1H (G737A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365830	NM_021098.3(CACNA1H):c.6598G>A (p.Asp2200Asn)	CACNA1H (D2194N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365826	NM_021098.3(CACNA1H):c.2139G>C (p.Glu713Asp)	CACNA1H (E713D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365427	NM_021098.3(CACNA1H):c.183G>C (p.Glu61Asp)	CACNA1H (E61D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364497	NM_021098.3(CACNA1H):c.5368A>T (p.Thr1790Ser)	CACNA1H (T1784S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364426	NM_021098.3(CACNA1H):c.4708G>A (p.Ala1570Thr)	CACNA1H (A1570T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364294	NM_021098.3(CACNA1H):c.4981G>T (p.Val1661Phe)	CACNA1H (V1655F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3363794	NM_021098.3(CACNA1H):c.5477A>G (p.Lys1826Arg)	CACNA1H (K1820R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3362143	NM_021098.3(CACNA1H):c.4492T>C (p.Phe1498Leu)	CACNA1H (F1498L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361217	NM_021098.3(CACNA1H):c.4448G>C (p.Arg1483Pro)	CACNA1H (R1483P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361124	NM_021098.3(CACNA1H):c.1567CAC[9] (p.His528_Tyr529insHisHisHis)	CACNA1H	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 3360954	NM_021098.3(CACNA1H):c.4013T>C (p.Ile1338Thr)	CACNA1H (I1338T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360749	NM_021098.3(CACNA1H):c.5224G>A (p.Val1742Met)	CACNA1H (V1736M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360450	NM_021098.3(CACNA1H):c.1200C>G (p.Ile400Met)	CACNA1H (I400M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3360373	NM_021098.3(CACNA1H):c.470C>T (p.Ala157Val)	CACNA1H (A157V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359648	NM_021098.3(CACNA1H):c.3632C>T (p.Pro1211Leu)	CACNA1H (P1211L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359439	NM_021098.3(CACNA1H):c.1671dup (p.Ser558fs)	CACNA1H (S558fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3355924	NM_021098.3(CACNA1H):c.1096T>C (p.Tyr366His)	CACNA1H (Y366H)	Single nucleotide variant (missense variant)	CACNA1H-related disorder	GUncertain significance
Select item 3347602	NM_021098.3(CACNA1H):c.4289T>C (p.Ile1430Thr)	CACNA1H (I1430T)	Single nucleotide variant (missense variant)	CACNA1H-related disorder	GUncertain significance
Select item 3347322	NM_021098.3(CACNA1H):c.376G>T (p.Val126Phe)	CACNA1H (V126F)	Single nucleotide variant (missense variant)	CACNA1H-related disorder	GUncertain significance
Select item 3346423	NM_021098.3(CACNA1H):c.4046C>T (p.Ala1349Val)	CACNA1H (A1349V)	Single nucleotide variant (missense variant)	CACNA1H-related disorder	GUncertain significance
Select item 3343644	NM_021098.3(CACNA1H):c.4768C>G (p.Pro1590Ala)	CACNA1H (P1590A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3343156	NM_021098.3(CACNA1H):c.1748A>G (p.Glu583Gly)	CACNA1H (E583G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339929	NM_021098.3(CACNA1H):c.567C>T (p.Asp189=)	CACNA1H	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3339883	NM_021098.3(CACNA1H):c.5422del (p.Asp1808fs)	CACNA1H (D1802fs +1 more)	Deletion (frameshift variant)	not specified	GUncertain significance
Select item 3339882	NM_021098.3(CACNA1H):c.6676A>G (p.Thr2226Ala)	CACNA1H (T2220A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339536	NM_021098.3(CACNA1H):c.4351-6C>A	CACNA1H	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3339083	NM_021098.3(CACNA1H):c.1925G>A (p.Gly642Asp)	CACNA1H (G642D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3337881	NM_021098.3(CACNA1H):c.2629G>A (p.Asp877Asn)	CACNA1H (D877N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337880	NM_021098.3(CACNA1H):c.361C>T (p.Arg121Trp)	CACNA1H (R121W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3262784	NM_021098.3(CACNA1H):c.2746G>A (p.Ala916Thr)	CACNA1H (A916T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262781	NM_021098.3(CACNA1H):c.6500A>T (p.Glu2167Val)	CACNA1H (E2161V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262780	NM_021098.3(CACNA1H):c.5992C>G (p.Leu1998Val)	CACNA1H (L1992V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262779	NM_021098.3(CACNA1H):c.1678C>T (p.Pro560Ser)	CACNA1H (P560S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262778	NM_021098.3(CACNA1H):c.3931A>C (p.Ile1311Leu)	CACNA1H (I1311L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262777	NM_021098.3(CACNA1H):c.3945G>C (p.Arg1315Ser)	CACNA1H (R1315S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262776	NM_021098.3(CACNA1H):c.3758G>T (p.Arg1253Leu)	CACNA1H (R1253L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262774	NM_021098.3(CACNA1H):c.1469T>G (p.Val490Gly)	CACNA1H (V490G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262773	NM_021098.3(CACNA1H):c.964T>C (p.Tyr322His)	CACNA1H (Y322H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262772	NM_021098.3(CACNA1H):c.998C>T (p.Ala333Val)	CACNA1H (A333V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3262771	NM_021098.3(CACNA1H):c.6818T>C (p.Leu2273Pro)	CACNA1H (L2273P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252735	NM_021098.3(CACNA1H):c.923G>C (p.Arg308Pro)	CACNA1H (R308P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3252303	NM_021098.3(CACNA1H):c.2173_2178del (p.Arg725_Gly726del)	CACNA1H	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243340	NC_000016.9:g.(?_1203738)_(1258241_?)dup	CACNA1H	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243337	NC_000016.9:g.(?_1269961)_(1270994_?)dup	CACNA1H	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243336	NC_000016.9:g.(?_1203738)_(1204056_?)del	CACNA1H	Deletion	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3234507	NM_021098.3(CACNA1H):c.1977G>A (p.Lys659=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3136406	NM_021098.3(CACNA1H):c.968C>A (p.Thr323Lys)	CACNA1H (T323K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136404	NM_021098.3(CACNA1H):c.7015C>G (p.Pro2339Ala)	CACNA1H (P2339A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136403	NM_021098.3(CACNA1H):c.6962G>A (p.Arg2321Lys)	CACNA1H (R2315K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136402	NM_021098.3(CACNA1H):c.6931C>T (p.Pro2311Ser)	CACNA1H (P2305S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136401	NM_021098.3(CACNA1H):c.6914C>T (p.Pro2305Leu)	CACNA1H (P2299L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136400	NM_021098.3(CACNA1H):c.6659C>A (p.Thr2220Asn)	CACNA1H (T2214N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136398	NM_021098.3(CACNA1H):c.6541G>A (p.Ala2181Thr)	CACNA1H (A2181T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136397	NM_021098.3(CACNA1H):c.6536T>C (p.Leu2179Pro)	CACNA1H (L2173P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136395	NM_021098.3(CACNA1H):c.6019C>T (p.Pro2007Ser)	CACNA1H (P2001S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136393	NM_021098.3(CACNA1H):c.5944C>T (p.Pro1982Ser)	CACNA1H (P1976S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136392	NM_021098.3(CACNA1H):c.5797A>C (p.Met1933Leu)	CACNA1H (M1927L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136391	NM_021098.3(CACNA1H):c.4828A>G (p.Ile1610Val)	CACNA1H (I1604V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136390	NM_021098.3(CACNA1H):c.4780G>A (p.Ala1594Thr)	CACNA1H (A1588T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136389	NM_021098.3(CACNA1H):c.4680G>T (p.Lys1560Asn)	CACNA1H (K1560N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136387	NM_021098.3(CACNA1H):c.3568G>A (p.Ala1190Thr)	CACNA1H (A1190T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136386	NM_021098.3(CACNA1H):c.352G>A (p.Gly118Ser)	CACNA1H (G118S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136384	NM_021098.3(CACNA1H):c.2651G>C (p.Arg884Pro)	CACNA1H (R884P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136383	NM_021098.3(CACNA1H):c.2473C>A (p.Leu825Met)	CACNA1H (L825M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136382	NM_021098.3(CACNA1H):c.2204G>A (p.Arg735Gln)	CACNA1H (R735Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3136381	NM_021098.3(CACNA1H):c.2180T>C (p.Val727Ala)	CACNA1H (V727A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136380	NM_021098.3(CACNA1H):c.1442G>A (p.Arg481His)	CACNA1H (R481H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136379	NM_021098.3(CACNA1H):c.1300C>G (p.Arg434Gly)	CACNA1H (R434G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136378	NM_021098.3(CACNA1H):c.1265T>C (p.Phe422Ser)	CACNA1H (F422S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3068750	NM_021098.3(CACNA1H):c.5548G>A (p.Val1850Met)	CACNA1H (V1844M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067609	NM_021098.3(CACNA1H):c.5446-1G>A	CACNA1H	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 3065223	NM_021098.3(CACNA1H):c.4283G>A (p.Arg1428Lys)	CACNA1H (R1428K)	Single nucleotide variant (missense variant)	Epilepsy, childhood absence, susceptibility to, 6	GUncertain significance
Select item 3063465	GRCh37/hg19 16p13.3(chr16:1252411-1297707)x1	CACNA1H, TPSAB1 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3058792	NM_021098.3(CACNA1H):c.2460G>A (p.Glu820=)	CACNA1H	Single nucleotide variant (synonymous variant)	CACNA1H-related disorder	GLikely benign
Select item 3053799	NM_021098.3(CACNA1H):c.6978C>G (p.Leu2326=)	CACNA1H	Single nucleotide variant (synonymous variant)	CACNA1H-related disorder	GLikely benign
Select item 3052580	NM_021098.3(CACNA1H):c.3729C>T (p.Asp1243=)	CACNA1H	Single nucleotide variant (synonymous variant)	CACNA1H-related disorder	GLikely benign
Select item 3047833	NM_021098.3(CACNA1H):c.6237C>T (p.Val2079=)	CACNA1H	Single nucleotide variant (synonymous variant)	CACNA1H-related disorder	GLikely benign
Select item 3044088	NM_021098.3(CACNA1H):c.1239G>A (p.Leu413=)	CACNA1H	Single nucleotide variant (synonymous variant)	CACNA1H-related disorder	GLikely benign
Select item 3042066	NM_021098.3(CACNA1H):c.4929+8C>G	CACNA1H	Single nucleotide variant (intron variant)	CACNA1H-related disorder	GLikely benign
Select item 3041212	NM_021098.3(CACNA1H):c.4929+7G>T	CACNA1H	Single nucleotide variant (intron variant)	CACNA1H-related disorder	GLikely benign
Select item 3026562	NM_021098.3(CACNA1H):c.339C>T (p.Asn113=)	CACNA1H	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954468	NM_021098.3(CACNA1H):c.2603+9C>T	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2954436	NM_021098.3(CACNA1H):c.4537G>T (p.Gly1513Trp)	CACNA1H (G1513W)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2954348	NM_021098.3(CACNA1H):c.2415C>T (p.Val805=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2954105	NM_021098.3(CACNA1H):c.5887+5G>T	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2954024	NM_021098.3(CACNA1H):c.6986C>T (p.Pro2329Leu)	CACNA1H (P2323L +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GBenign

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