ClinVar for MedGen (Select 934723) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954468	NM_021098.3(CACNA1H):c.2603+9C>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2954436	NM_021098.3(CACNA1H):c.4537G>T (p.Gly1513Trp)	CACNA1H (G1513W)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2954348	NM_021098.3(CACNA1H):c.2415C>T (p.Val805=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2954105	NM_021098.3(CACNA1H):c.5887+5G>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +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)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2953898	NM_021098.3(CACNA1H):c.3096C>T (p.Asp1032=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2953814	NM_021098.3(CACNA1H):c.3389C>T (p.Ala1130Val)	CACNA1H (A1130V)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2953765	NM_021098.3(CACNA1H):c.2736G>A (p.Met912Ile)	CACNA1H (M912I)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2953669	NM_021098.3(CACNA1H):c.3363+3A>G	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2953667	NM_021098.3(CACNA1H):c.6568C>G (p.Pro2190Ala)	CACNA1H (P2184A +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2953554	NM_021098.3(CACNA1H):c.333G>A (p.Met111Ile)	CACNA1H (M111I)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2953369	NM_021098.3(CACNA1H):c.3141A>T (p.Glu1047Asp)	CACNA1H (E1047D)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2953366	NM_021098.3(CACNA1H):c.4647G>T (p.Met1549Ile)	CACNA1H (M1549I)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GPathogenic
Select item 2953349	NM_021098.3(CACNA1H):c.4835C>A (p.Ser1612Ter)	CACNA1H (S1612* +1 more)	Single nucleotide variant (nonsense)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2952953	NM_021098.3(CACNA1H):c.2566C>G (p.Pro856Ala)	CACNA1H (P856A)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +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 2952929	NM_021098.3(CACNA1H):c.1468G>C (p.Val490Leu)	CACNA1H (V490L)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2952928	NM_021098.3(CACNA1H):c.2739C>T (p.Asp913=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2952763	NM_021098.3(CACNA1H):c.1491C>G (p.Gly497=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2952642	NM_021098.3(CACNA1H):c.1227C>T (p.Phe409=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2952562	NM_021098.3(CACNA1H):c.5807C>A (p.Pro1936His)	CACNA1H (P1930H +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2952501	NM_021098.3(CACNA1H):c.2973C>T (p.Ala991=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2952388	NM_021098.3(CACNA1H):c.3483G>A (p.Gly1161=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2952319	NM_021098.3(CACNA1H):c.6498G>A (p.Gly2166=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2952051	NM_021098.3(CACNA1H):c.475G>A (p.Gly159Arg)	CACNA1H (G159R)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2952033	NM_021098.3(CACNA1H):c.6465G>T (p.Arg2155=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2952027	NM_021098.3(CACNA1H):c.4782C>G (p.Ala1594=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2951998	NM_021098.3(CACNA1H):c.941C>G (p.Pro314Arg)	CACNA1H (P314R)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2951985	NM_021098.3(CACNA1H):c.6234C>G (p.Cys2078Trp)	CACNA1H (C2072W +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2951717	NM_021098.3(CACNA1H):c.5996C>G (p.Ser1999Cys)	CACNA1H (S1993C +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2951691	NM_021098.3(CACNA1H):c.4566+5G>A	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2951671	NM_021098.3(CACNA1H):c.4280T>C (p.Leu1427Pro)	CACNA1H (L1427P)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2951631	NM_021098.3(CACNA1H):c.3390C>A (p.Ala1130=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2951614	NM_021098.3(CACNA1H):c.5353C>T (p.Leu1785=)	CACNA1H	Single nucleotide variant (synonymous variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2951539	NM_021098.3(CACNA1H):c.1633_1648del (p.Ala545fs)	CACNA1H (A545fs)	Deletion (frameshift variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2951302	NM_021098.3(CACNA1H):c.6007_6015del (p.Thr2003_Arg2005del)	CACNA1H	Deletion (inframe_deletion)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2951073	NM_021098.3(CACNA1H):c.804-4C>G	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2951014	NM_021098.3(CACNA1H):c.6089G>A (p.Ser2030Asn)	CACNA1H (S2024N +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2950956	NM_021098.3(CACNA1H):c.1912G>C (p.Gly638Arg)	CACNA1H (G638R)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2950944	NM_021098.3(CACNA1H):c.3878A>C (p.His1293Pro)	CACNA1H (H1293P)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2950819	NM_021098.3(CACNA1H):c.3754C>G (p.Leu1252Val)	CACNA1H (L1252V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2950679	NM_021098.3(CACNA1H):c.3925G>T (p.Val1309Phe)	CACNA1H (V1309F)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2950476	NM_021098.3(CACNA1H):c.5040-19T>C	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
Select item 2950330	NM_021098.3(CACNA1H):c.5173+12C>T	CACNA1H	Single nucleotide variant (intron variant)	Idiopathic generalized epilepsy +1 more	GLikely benign
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 2950232	NM_021098.3(CACNA1H):c.6298G>A (p.Glu2100Lys)	CACNA1H (E2100K +1 more)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2950137	NM_021098.3(CACNA1H):c.986G>T (p.Gly329Val)	CACNA1H (G329V)	Single nucleotide variant (missense variant)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2949910	NM_021098.3(CACNA1H):c.3547_3552dup (p.Ala1184_Ala1185insArgAla)	CACNA1H	Duplication (inframe_insertion)	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 2949539	NM_021098.3(CACNA1H):c.4224-17C>A	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2949416	NM_021098.3(CACNA1H):c.4760-10G>C	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2949252	NM_021098.3(CACNA1H):c.5946A>G (p.Pro1982=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2949235	NM_021098.3(CACNA1H):c.2082C>T (p.Thr694=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2949209	NM_021098.3(CACNA1H):c.3063+9_3063+21del	CACNA1H	Deletion (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2949034	NM_021098.3(CACNA1H):c.3108C>T (p.Val1036=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2948789	NM_021098.3(CACNA1H):c.299+17G>A	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2948713	NM_021098.3(CACNA1H):c.6924A>G (p.Ser2308=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2948708	NM_021098.3(CACNA1H):c.2603+14del	CACNA1H	Deletion (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2948707	NM_021098.3(CACNA1H):c.5244+13C>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2948671	NM_021098.3(CACNA1H):c.5035G>A (p.Asp1679Asn)	CACNA1H (D1673N +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2948597	NM_021098.3(CACNA1H):c.4926C>T (p.Pro1642=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2948573	NM_021098.3(CACNA1H):c.5485C>G (p.Leu1829Val)	CACNA1H (L1823V +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2948476	NM_021098.3(CACNA1H):c.4314C>A (p.Cys1438Ter)	CACNA1H (C1438*)	Single nucleotide variant (nonsense)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2948161	NM_021098.3(CACNA1H):c.6823G>T (p.Val2275Phe)	CACNA1H (V2275F +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2948150	NM_021098.3(CACNA1H):c.4712G>A (p.Arg1571Gln)	CACNA1H (R1571Q)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2948123	NM_021098.3(CACNA1H):c.5641G>A (p.Glu1881Lys)	CACNA1H (E1875K +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2947993	NM_021098.3(CACNA1H):c.1951T>C (p.Leu651=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2947963	NM_021098.3(CACNA1H):c.5502C>T (p.Ala1834=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2947813	NM_021098.3(CACNA1H):c.6767G>A (p.Cys2256Tyr)	CACNA1H (C2256Y +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2947735	NM_021098.3(CACNA1H):c.4614C>T (p.Phe1538=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2947729	NM_021098.3(CACNA1H):c.546-15C>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2947698	NM_021098.3(CACNA1H):c.5506T>C (p.Ser1836Pro)	CACNA1H (S1836P +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2947667	NM_021098.3(CACNA1H):c.6032G>C (p.Arg2011Pro)	CACNA1H (R2005P +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2947655	NM_021098.3(CACNA1H):c.6273_6276dup (p.Ala2093fs)	CACNA1H (A2093fs +1 more)	Duplication (frameshift variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2946971	NM_021098.3(CACNA1H):c.4126C>G (p.Leu1376Val)	CACNA1H (L1376V)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2946904	NM_021098.3(CACNA1H):c.1176A>G (p.Ser392=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2946750	NM_021098.3(CACNA1H):c.411+20G>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2946475	NM_021098.3(CACNA1H):c.5002C>G (p.Leu1668Val)	CACNA1H (L1668V +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2946253	NM_021098.3(CACNA1H):c.4038+15G>A	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2946208	NM_021098.3(CACNA1H):c.5295G>T (p.Ala1765=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2945893	NM_021098.3(CACNA1H):c.2014G>A (p.Ala672Thr)	CACNA1H (A672T)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GBenign
Select item 2945778	NM_021098.3(CACNA1H):c.6161C>T (p.Ser2054Phe)	CACNA1H (S2054F +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2945743	NM_021098.3(CACNA1H):c.1891G>C (p.Gly631Arg)	CACNA1H (G631R)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2945552	NM_021098.3(CACNA1H):c.1038G>T (p.Val346=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2945530	NM_021098.3(CACNA1H):c.4223+9C>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2945502	NM_021098.3(CACNA1H):c.4594C>T (p.Leu1532=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2945497	NM_021098.3(CACNA1H):c.1826G>A (p.Gly609Asp)	CACNA1H (G609D)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2945361	NM_021098.3(CACNA1H):c.6004G>A (p.Gly2002Ser)	CACNA1H (G1996S +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2945110	NM_021098.3(CACNA1H):c.5174-6C>A	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2945005	NM_021098.3(CACNA1H):c.6525C>T (p.Ala2175=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2944802	NM_021098.3(CACNA1H):c.4567-6C>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2944797	NM_021098.3(CACNA1H):c.2075C>G (p.Thr692Arg)	CACNA1H (T692R)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2944503	NM_021098.3(CACNA1H):c.4804G>T (p.Asp1602Tyr)	CACNA1H (D1602Y +1 more)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2944186	NM_021098.3(CACNA1H):c.3195C>G (p.His1065Gln)	CACNA1H (H1065Q)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2944177	NM_021098.3(CACNA1H):c.478C>G (p.Leu160Val)	CACNA1H (L160V)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2943952	NM_021098.3(CACNA1H):c.1499C>T (p.Pro500Leu)	CACNA1H (P500L)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2943917	NM_021098.3(CACNA1H):c.6633dup (p.Gly2212fs)	CACNA1H (G2206fs +1 more)	Duplication (frameshift variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2943843	NM_021098.3(CACNA1H):c.320T>C (p.Met107Thr)	CACNA1H (M107T)	Single nucleotide variant (missense variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign
Select item 2943600	NM_021098.3(CACNA1H):c.2616C>A (p.Ile872=)	CACNA1H	Single nucleotide variant (synonymous variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2943511	NM_021098.3(CACNA1H):c.3154+4C>A	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2943149	NM_021098.3(CACNA1H):c.4567-11C>T	CACNA1H	Single nucleotide variant (intron variant)	Hyperaldosteronism, familial, type IV +1 more	GLikely benign

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