ClinVar for MedGen (Select 413199) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 650

<< First< Prev

Page of 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3577915	NM_000069.3(CACNA1S):c.11C>T (p.Ser4Phe)	CACNA1S (S4F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577904	NM_000069.3(CACNA1S):c.83C>G (p.Pro28Arg)	CACNA1S (P28R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577884	NM_000069.3(CACNA1S):c.191A>G (p.Asn64Ser)	CACNA1S (N64S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577872	NM_000069.3(CACNA1S):c.245T>C (p.Leu82Pro)	CACNA1S (L82P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577867	NM_000069.3(CACNA1S):c.250C>T (p.Leu84Phe)	CACNA1S (L84F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577825	NM_000069.3(CACNA1S):c.451C>G (p.Pro151Ala)	CACNA1S (P151A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577809	NM_000069.3(CACNA1S):c.530C>A (p.Ser177Ter)	CACNA1S (S177*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely pathogenic
Select item 3577798	NM_000069.3(CACNA1S):c.535G>A (p.Val179Met)	CACNA1S (V179M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577794	NM_000069.3(CACNA1S):c.541+3G>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577786	NM_000069.3(CACNA1S):c.731C>A (p.Pro244His)	CACNA1S (P244H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577721	NM_000069.3(CACNA1S):c.872T>C (p.Met291Thr)	CACNA1S (M291T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577717	NM_000069.3(CACNA1S):c.887A>T (p.Asp296Val)	CACNA1S (D296V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577711	NM_000069.3(CACNA1S):c.900+5G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577689	NM_000069.3(CACNA1S):c.1112del (p.Thr371fs)	CACNA1S (T371fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely pathogenic
Select item 3577666	NM_000069.3(CACNA1S):c.1138G>A (p.Asp380Asn)	CACNA1S (D380N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577637	NM_000069.3(CACNA1S):c.1190G>T (p.Ser397Ile)	CACNA1S (S397I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577631	NM_000069.3(CACNA1S):c.1205C>A (p.Ala402Glu)	CACNA1S (A402E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3577621	NM_000069.3(CACNA1S):c.1273T>G (p.Cys425Gly)	CACNA1S (C425G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577616	NM_000069.3(CACNA1S):c.1354G>A (p.Glu452Lys)	CACNA1S (E452K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577613	NM_000069.3(CACNA1S):c.1395del (p.Asp465fs)	CACNA1S (D465fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely pathogenic
Select item 3577605	NM_000069.3(CACNA1S):c.1483A>G (p.Ile495Val)	CACNA1S (I495V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577575	NM_000069.3(CACNA1S):c.1514G>A (p.Cys505Tyr)	CACNA1S (C505Y)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 3577542	NM_000069.3(CACNA1S):c.1598T>C (p.Leu533Pro)	CACNA1S (L533P)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577535	NM_000069.3(CACNA1S):c.1619+4A>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577526	NM_000069.3(CACNA1S):c.1619+4A>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577495	NM_000069.3(CACNA1S):c.1754A>C (p.Tyr585Ser)	CACNA1S (Y585S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577485	NM_000069.3(CACNA1S):c.1785C>T (p.Ser595=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577394	NM_000069.3(CACNA1S):c.1906C>T (p.Leu636Phe)	CACNA1S (L636F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577359	NM_000069.3(CACNA1S):c.1961A>G (p.Asn654Ser)	CACNA1S (N654S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577339	NM_000069.3(CACNA1S):c.2063A>G (p.Lys688Arg)	CACNA1S (K688R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577333	NM_000069.3(CACNA1S):c.2063+16G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577317	NM_000069.3(CACNA1S):c.2144C>T (p.Pro715Leu)	CACNA1S (P715L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577310	NM_000069.3(CACNA1S):c.2188A>G (p.Asn730Asp)	CACNA1S (N730D)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577297	NM_000069.3(CACNA1S):c.2257C>T (p.Pro753Ser)	CACNA1S (P753S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577237	NM_000069.3(CACNA1S):c.2424C>A (p.Phe808Leu)	CACNA1S (F808L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577231	NM_000069.3(CACNA1S):c.2443G>A (p.Ala815Thr)	CACNA1S (A815T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577218	NM_000069.3(CACNA1S):c.2558C>T (p.Thr853Ile)	CACNA1S (T853I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577193	NM_000069.3(CACNA1S):c.2658-2A>C	CACNA1S	Single nucleotide variant (splice acceptor variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely pathogenic
Select item 3577190	NM_000069.3(CACNA1S):c.2745+3G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577187	NM_000069.3(CACNA1S):c.2756A>G (p.Gln919Arg)	CACNA1S (Q919R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577173	NM_000069.3(CACNA1S):c.2903G>T (p.Cys968Phe)	CACNA1S (C968F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577150	NM_000069.3(CACNA1S):c.2970G>C (p.Trp990Cys)	CACNA1S (W990C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577142	NM_000069.3(CACNA1S):c.2991C>A (p.Phe997Leu)	CACNA1S (F997L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577134	NM_000069.3(CACNA1S):c.3011T>C (p.Met1004Thr)	CACNA1S (M1004T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577114	NM_000069.3(CACNA1S):c.3056T>A (p.Leu1019Gln)	CACNA1S (L1019Q)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577106	NM_000069.3(CACNA1S):c.3140T>C (p.Ile1047Thr)	CACNA1S (I1047T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577103	NM_000069.3(CACNA1S):c.3203T>G (p.Phe1068Cys)	CACNA1S (F1068C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577101	NM_000069.3(CACNA1S):c.3244G>A (p.Asp1082Asn)	CACNA1S (D1082N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577098	NM_000069.3(CACNA1S):c.3244G>T (p.Asp1082Tyr)	CACNA1S (D1082Y)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577094	NM_000069.3(CACNA1S):c.3256-17T>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577083	NM_000069.3(CACNA1S):c.3274G>A (p.Ala1092Thr)	CACNA1S (A1092T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577078	NM_000069.3(CACNA1S):c.3284C>T (p.Ala1095Val)	CACNA1S (A1095V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577066	NM_000069.3(CACNA1S):c.3326dup (p.Tyr1109Ter)	CACNA1S (Y1109*)	Duplication (nonsense)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely pathogenic
Select item 3577012	NM_000069.3(CACNA1S):c.3461A>C (p.Asn1154Thr)	CACNA1S (N1154T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3577006	NM_000069.3(CACNA1S):c.3511G>A (p.Ala1171Thr)	CACNA1S (A1171T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576997	NM_000069.3(CACNA1S):c.3559T>G (p.Phe1187Val)	CACNA1S (F1187V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576942	NM_000069.3(CACNA1S):c.3698C>A (p.Ala1233Asp)	CACNA1S (A1233D)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576940	NM_000069.3(CACNA1S):c.3707G>T (p.Arg1236Leu)	CACNA1S (R1236L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576932	NM_000069.3(CACNA1S):c.3764C>T (p.Thr1255Ile)	CACNA1S (T1255I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576928	NM_000069.3(CACNA1S):c.3786G>C (p.Lys1262Asn)	CACNA1S (K1262N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576917	NM_000069.3(CACNA1S):c.3796G>T (p.Ala1266Ser)	CACNA1S (A1266S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576912	NM_000069.3(CACNA1S):c.3850A>G (p.Ile1284Val)	CACNA1S (I1284V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576911	NM_000069.3(CACNA1S):c.3858G>C (p.Met1286Ile)	CACNA1S (M1286I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576901	NM_000069.3(CACNA1S):c.3974G>A (p.Trp1325Ter)	CACNA1S (W1325*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely pathogenic
Select item 3576863	NM_000069.3(CACNA1S):c.4113+2T>C	CACNA1S	Single nucleotide variant (splice donor variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely pathogenic
Select item 3576857	NM_000069.3(CACNA1S):c.4150T>A (p.Phe1384Ile)	CACNA1S (F1384I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576849	NM_000069.3(CACNA1S):c.4172G>T (p.Trp1391Leu)	CACNA1S (W1391L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576847	NM_000069.3(CACNA1S):c.4199A>T (p.Asp1400Val)	CACNA1S (D1400V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576832	NM_000069.3(CACNA1S):c.4359G>T (p.Met1453Ile)	CACNA1S (M1453I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576825	NM_000069.3(CACNA1S):c.4388T>C (p.Phe1463Ser)	CACNA1S (F1463S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576790	NM_000069.3(CACNA1S):c.4543+5G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576764	NM_000069.3(CACNA1S):c.4656T>G (p.Ile1552Met)	CACNA1S (I1552M)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576754	NM_000069.3(CACNA1S):c.4798-7C>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576752	NM_000069.3(CACNA1S):c.4841G>A (p.Arg1614Lys)	CACNA1S (R1614K)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576736	NM_000069.3(CACNA1S):c.4860del (p.Val1621fs)	CACNA1S (V1621fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely pathogenic
Select item 3576707	NM_000069.3(CACNA1S):c.4933G>C (p.Glu1645Gln)	CACNA1S (E1645Q)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576679	NM_000069.3(CACNA1S):c.4955G>C (p.Arg1652Pro)	CACNA1S (R1652P)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576663	NM_000069.3(CACNA1S):c.5054A>G (p.His1685Arg)	CACNA1S (H1685R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576632	NM_000069.3(CACNA1S):c.5182C>G (p.Gln1728Glu)	CACNA1S (Q1728E)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576626	NM_000069.3(CACNA1S):c.5182C>T (p.Gln1728Ter)	CACNA1S (Q1728*)	Single nucleotide variant (nonsense)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely pathogenic
Select item 3576600	NM_000069.3(CACNA1S):c.5300C>T (p.Pro1767Leu)	CACNA1S (P1767L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576594	NM_000069.3(CACNA1S):c.5370+1del	CACNA1S	Deletion (splice donor variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576590	NM_000069.3(CACNA1S):c.5459T>C (p.Met1820Thr)	CACNA1S (M1820T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576583	NM_000069.3(CACNA1S):c.5504G>A (p.Gly1835Glu)	CACNA1S (G1835E)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576575	NM_000069.3(CACNA1S):c.5585_5602del (p.Gln1862_Thr1867del)	CACNA1S	Deletion	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3576570	NM_000069.3(CACNA1S):c.5602C>T (p.Leu1868Phe)	CACNA1S (L1868F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3386405	NM_000069.3(CACNA1S):c.346G>A (p.Ala116Thr)	CACNA1S (A116T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3386352	NM_000069.3(CACNA1S):c.2311G>T (p.Val771Leu)	CACNA1S (V771L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3386326	NM_000069.3(CACNA1S):c.3397A>G (p.Ile1133Val)	CACNA1S (I1133V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3386322	NM_000069.3(CACNA1S):c.3667-3C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 3386313	NM_000069.3(CACNA1S):c.4099C>T (p.Leu1367Phe)	CACNA1S (L1367F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 3386311	NM_000069.3(CACNA1S):c.4107C>T (p.Ala1369=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 3262806	NM_000069.3(CACNA1S):c.1188G>C (p.Glu396Asp)	CACNA1S (E396D)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 3136446	NM_000069.3(CACNA1S):c.2399G>T (p.Trp800Leu)	CACNA1S (W800L)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 3075015	NM_000069.3(CACNA1S):c.5419A>T (p.Ile1807Phe)	CACNA1S (I1807F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 3074528	NM_000069.3(CACNA1S):c.3595C>T (p.Leu1199Phe)	CACNA1S (L1199F)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 3072944	NM_000069.3(CACNA1S):c.3667-5C>G	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 3072662	NM_000069.3(CACNA1S):c.5251C>A (p.Pro1751Thr)	CACNA1S (P1751T)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 3072502	NM_000069.3(CACNA1S):c.4664T>C (p.Ile1555Thr)	CACNA1S (I1555T)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 3072196	NM_000069.3(CACNA1S):c.932G>T (p.Trp311Leu)	CACNA1S (W311L)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance

<< First< Prev

Page of 7