ClinVar for MedGen (Select 413199) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2199119	NM_000069.3(CACNA1S):c.728C>T (p.Ser243Leu)	CACNA1S (S243L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 2141841	NM_000069.3(CACNA1S):c.4339C>T (p.Arg1447Trp)	CACNA1S (R1447W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2085048	NM_000069.3(CACNA1S):c.4669-6C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 2063698	NM_000069.3(CACNA1S):c.853G>A (p.Val285Met)	CACNA1S (V285M)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 2059275	NM_000069.3(CACNA1S):c.3607G>A (p.Asp1203Asn)	CACNA1S (D1203N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 2048532	NM_000069.3(CACNA1S):c.5077G>A (p.Glu1693Lys)	CACNA1S (E1693K)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 1801860	NM_000069.3(CACNA1S):c.1744G>T (p.Gly582Trp)	CACNA1S (G582W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 1671815	NM_000069.3(CACNA1S):c.331T>C (p.Leu111=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1670657	NM_000069.3(CACNA1S):c.1151-18T>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1628698	NM_000069.3(CACNA1S):c.2491-20C>T	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 1624571	NM_000069.3(CACNA1S):c.1347C>T (p.Ile449=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1620251	NM_000069.3(CACNA1S):c.2854-15T>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1595822	NM_000069.3(CACNA1S):c.541+18T>A	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 1591372	NM_000069.3(CACNA1S):c.542-9C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1589321	NM_000069.3(CACNA1S):c.4543+15G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 1587930	NM_000069.3(CACNA1S):c.3636G>A (p.Leu1212=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 1586741	NM_000069.3(CACNA1S):c.3610-17G>A	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 1584244	NM_000069.3(CACNA1S):c.4338+13G>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GBenign/Likely benign
Select item 1559007	NM_000069.3(CACNA1S):c.3943C>T (p.Leu1315=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1543757	NM_000069.3(CACNA1S):c.3796-19G>A	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 1540516	NM_000069.3(CACNA1S):c.900+17G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1539271	NM_000069.3(CACNA1S):c.259-14G>A	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 1535949	NM_000069.3(CACNA1S):c.3610-18C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 1507001	NM_000069.3(CACNA1S):c.5299C>T (p.Pro1767Ser)	CACNA1S (P1767S)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GConflicting classifications of pathogenicity
Select item 1499796	NM_000069.3(CACNA1S):c.1151G>A (p.Gly384Glu)	CACNA1S (G384E)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 1496452	NM_000069.3(CACNA1S):c.5575G>A (p.Asp1859Asn)	CACNA1S (D1859N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1490533	NM_000069.3(CACNA1S):c.1778G>A (p.Arg593Gln)	CACNA1S (R593Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1486135	NM_000069.3(CACNA1S):c.707C>T (p.Thr236Met)	CACNA1S (T236M)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1478409	NM_000069.3(CACNA1S):c.1828G>T (p.Val610Leu)	CACNA1S (V610L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 1470215	NM_000069.3(CACNA1S):c.4717A>T (p.Thr1573Ser)	CACNA1S (T1573S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 1455320	NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs)	CACNA1S (N468fs)	Deletion (frameshift variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +2 more	GPathogenic/Likely pathogenic
Select item 1452647	NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter)	CACNA1S (R412*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1443938	NM_000069.3(CACNA1S):c.1530G>T (p.Glu510Asp)	CACNA1S (E510D)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1435020	NM_000069.3(CACNA1S):c.4796G>A (p.Arg1599Gln)	CACNA1S (R1599Q)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 1431416	NM_000069.3(CACNA1S):c.1123G>T (p.Val375Phe)	CACNA1S (V375F)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 1430815	NM_000069.3(CACNA1S):c.1045A>G (p.Thr349Ala)	CACNA1S (T349A)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 1430278	NM_000069.3(CACNA1S):c.1430C>T (p.Thr477Ile)	CACNA1S (T477I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 1421703	NM_000069.3(CACNA1S):c.2853+18C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1419247	NM_000069.3(CACNA1S):c.5101G>A (p.Gly1701Arg)	CACNA1S (G1701R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 1408928	NM_000069.3(CACNA1S):c.3053+19C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1402163	NM_000069.3(CACNA1S):c.1781G>T (p.Arg594Leu)	CACNA1S (R594L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1399747	NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)	CACNA1S (R1249Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 1397126	NM_000069.3(CACNA1S):c.1204G>T (p.Ala402Ser)	CACNA1S (A402S)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GConflicting classifications of pathogenicity
Select item 1393410	NM_000069.3(CACNA1S):c.1478T>C (p.Met493Thr)	CACNA1S (M493T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 1392056	NM_000069.3(CACNA1S):c.1550G>A (p.Gly517Asp)	CACNA1S (G517D)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GUncertain significance
Select item 1388387	NM_000069.3(CACNA1S):c.340C>A (p.Gln114Lys)	CACNA1S (Q114K)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 1382683	NM_000069.3(CACNA1S):c.806A>G (p.Asn269Ser)	CACNA1S (N269S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 1371895	NM_000069.3(CACNA1S):c.1957C>T (p.Leu653Phe)	CACNA1S (L653F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 1370471	NM_000069.3(CACNA1S):c.2773A>G (p.Ile925Val)	CACNA1S (I925V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1369216	NM_000069.3(CACNA1S):c.5526G>A (p.Met1842Ile)	CACNA1S (M1842I)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 1365693	NM_000069.3(CACNA1S):c.3953+5G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided +4 more	GUncertain significance
Select item 1364650	NM_000069.3(CACNA1S):c.4525G>A (p.Val1509Ile)	CACNA1S (V1509I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1353586	NM_000069.3(CACNA1S):c.3757G>A (p.Val1253Met)	CACNA1S (V1253M)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 1342775	NM_000069.3(CACNA1S):c.4415G>A (p.Arg1472His)	CACNA1S (R1472H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 1320866	NM_000069.3(CACNA1S):c.550G>A (p.Val184Met)	CACNA1S (V184M)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 1320407	NM_000069.3(CACNA1S):c.4616G>T (p.Arg1539Leu)	CACNA1S (R1539L)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1318670	NM_000069.3(CACNA1S):c.1552G>A (p.Ala518Thr)	CACNA1S (A518T)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 1316968	NM_000069.3(CACNA1S):c.3067G>A (p.Ala1023Thr)	CACNA1S (A1023T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 1256073	NM_000069.3(CACNA1S):c.1092G>C (p.Arg364=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 1167463	NM_000069.3(CACNA1S):c.2922G>A (p.Val974=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign
Select item 1157217	NM_000069.3(CACNA1S):c.4113+7_4113+8inv	CACNA1S	Inversion (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 1155561	NM_000069.3(CACNA1S):c.4242-5C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 1151042	NM_000069.3(CACNA1S):c.2766C>T (p.Phe922=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 1146754	NM_000069.3(CACNA1S):c.2854-6C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 1099677	NM_000069.3(CACNA1S):c.5394C>A (p.Gly1798=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GLikely benign
Select item 1091672	NM_000069.3(CACNA1S):c.4242-10C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1087064	NM_000069.3(CACNA1S):c.1302C>T (p.Phe434=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 1086762	NM_000069.3(CACNA1S):c.2658-10C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +3 more	GLikely benign
Select item 1060585	NM_000069.3(CACNA1S):c.2270G>A (p.Arg757Gln)	CACNA1S (R757Q)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1058637	NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)	CACNA1S (G279S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1046633	NM_000069.3(CACNA1S):c.164C>T (p.Thr55Met)	CACNA1S (T55M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1043053	NM_000069.3(CACNA1S):c.4025C>T (p.Ser1342Leu)	CACNA1S (S1342L)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 1039822	NM_000069.3(CACNA1S):c.2647A>C (p.Met883Leu)	CACNA1S (M883L)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GConflicting classifications of pathogenicity
Select item 1035543	NM_000069.3(CACNA1S):c.2273C>T (p.Pro758Leu)	CACNA1S (P758L)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 1026113	NM_000069.3(CACNA1S):c.4414C>T (p.Arg1472Cys)	CACNA1S (R1472C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 1024190	NM_000069.3(CACNA1S):c.258+6A>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 1023717	NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)	CACNA1S (A877V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1022728	NM_000069.3(CACNA1S):c.2853+6C>T	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 1022429	NM_000069.3(CACNA1S):c.1277A>G (p.His426Arg)	CACNA1S (H426R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1021634	NM_000069.3(CACNA1S):c.3873G>T (p.Lys1291Asn)	CACNA1S (K1291N)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 1019539	NM_000069.3(CACNA1S):c.3137T>A (p.Ile1046Asn)	CACNA1S (I1046N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 1018149	NM_000069.3(CACNA1S):c.5381G>A (p.Arg1794Gln)	CACNA1S (R1794Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1016727	NM_000069.3(CACNA1S):c.3407G>A (p.Gly1136Asp)	CACNA1S (G1136D)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 1012547	NM_000069.3(CACNA1S):c.4242-4G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 1011416	NM_000069.3(CACNA1S):c.3454A>G (p.Ile1152Val)	CACNA1S (I1152V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 1011195	NM_000069.3(CACNA1S):c.2245G>A (p.Glu749Lys)	CACNA1S (E749K)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 1009905	NM_000069.3(CACNA1S):c.2555C>T (p.Thr852Met)	CACNA1S (T852M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1008931	NM_000069.3(CACNA1S):c.2822T>C (p.Met941Thr)	CACNA1S (M941T)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 1000010	NM_000069.3(CACNA1S):c.2164A>G (p.Ile722Val)	CACNA1S (I722V)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +3 more	GUncertain significance
Select item 983515	NM_000069.3(CACNA1S):c.3745C>T (p.Arg1249Trp)	CACNA1S (R1249W)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 977156	NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	CACNA1S (R789H)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +6 more	GConflicting classifications of pathogenicity
Select item 976293	NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met)	CACNA1S (V917M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 972045	NM_000069.3(CACNA1S):c.700G>A (p.Val234Met)	CACNA1S (V234M)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 971011	NM_000069.3(CACNA1S):c.1660A>G (p.Asn554Asp)	CACNA1S (N554D)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 969194	NM_000069.3(CACNA1S):c.3905G>A (p.Arg1302Gln)	CACNA1S (R1302Q)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 965585	NM_000069.3(CACNA1S):c.1507G>A (p.Val503Met)	CACNA1S (V503M)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 957850	NM_000069.3(CACNA1S):c.1519G>A (p.Gly507Ser)	CACNA1S (G507S)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +2 more	GConflicting classifications of pathogenicity
Select item 955837	NM_000069.3(CACNA1S):c.2647A>G (p.Met883Val)	CACNA1S (M883V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 949966	NM_000069.3(CACNA1S):c.14C>T (p.Ser5Leu)	CACNA1S (S5L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GUncertain significance
Select item 947467	NM_000069.3(CACNA1S):c.5125A>G (p.Arg1709Gly)	CACNA1S (R1709G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance

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