ClinVar for MedGen (Select 356151) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2954553	NM_000069.3(CACNA1S):c.3053+11G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2954500	NM_000069.3(CACNA1S):c.399-5_399-3del	CACNA1S	Deletion (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2954299	NM_000069.3(CACNA1S):c.756C>T (p.Arg252=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2954241	NM_000069.3(CACNA1S):c.1271del (p.Lys424fs)	CACNA1S (K424fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2954121	NM_000069.3(CACNA1S):c.3808G>A (p.Val1270Met)	CACNA1S (V1270M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2954074	NM_000069.3(CACNA1S):c.3520G>A (p.Ala1174Thr)	CACNA1S (A1174T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2954012	NM_000069.3(CACNA1S):c.2745+15G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2953995	NM_000069.3(CACNA1S):c.3667-7C>G	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2953822	NM_000069.3(CACNA1S):c.3525+19G>C	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2953628	NM_000069.3(CACNA1S):c.2658-16C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2953424	NM_000069.3(CACNA1S):c.462C>G (p.Ser154Arg)	CACNA1S (S154R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2953220	NM_000069.3(CACNA1S):c.2228-1G>A	CACNA1S	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 2953201	NM_000069.3(CACNA1S):c.2228-14C>G	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2953175	NM_000069.3(CACNA1S):c.1606T>C (p.Phe536Leu)	CACNA1S (F536L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2953131	NM_000069.3(CACNA1S):c.3975G>A (p.Trp1325Ter)	CACNA1S (W1325*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2953022	NM_000069.3(CACNA1S):c.4362C>G (p.Pro1454=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2952907	NM_000069.3(CACNA1S):c.4001A>G (p.Tyr1334Cys)	CACNA1S (Y1334C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2952810	NM_000069.3(CACNA1S):c.4618C>T (p.Gln1540Ter)	CACNA1S (Q1540*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2952525	NM_000069.3(CACNA1S):c.3796-18C>G	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2952101	NM_000069.3(CACNA1S):c.3423C>T (p.Asn1141=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2951947	NM_000069.3(CACNA1S):c.3796-3del	CACNA1S	Deletion (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2951851	NM_000069.3(CACNA1S):c.2158-16del	CACNA1S	Deletion (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2951446	NM_000069.3(CACNA1S):c.5565G>A (p.Leu1855=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2950898	NM_000069.3(CACNA1S):c.5345C>A (p.Pro1782Gln)	CACNA1S (P1782Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2950208	NM_000069.3(CACNA1S):c.2945A>C (p.Gln982Pro)	CACNA1S (Q982P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2949761	NM_000069.3(CACNA1S):c.4109T>A (p.Phe1370Tyr)	CACNA1S (F1370Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2949752	NM_000069.3(CACNA1S):c.2907-3C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2949501	NM_000069.3(CACNA1S):c.4079A>G (p.Tyr1360Cys)	CACNA1S (Y1360C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2948982	NM_000069.3(CACNA1S):c.3255G>T (p.Gln1085His)	CACNA1S (Q1085H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2948720	NM_000069.3(CACNA1S):c.100C>G (p.Leu34Val)	CACNA1S (L34V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2948541	NM_000069.3(CACNA1S):c.3256-16G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2948491	NM_000069.3(CACNA1S):c.3054-9C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2948086	NM_000069.3(CACNA1S):c.2762T>C (p.Met921Thr)	CACNA1S (M921T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2947941	NM_000069.3(CACNA1S):c.1228T>C (p.Phe410Leu)	CACNA1S (F410L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2947624	NM_000069.3(CACNA1S):c.267G>A (p.Leu89=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2947288	NM_000069.3(CACNA1S):c.3159C>T (p.Ala1053=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2946837	NM_000069.3(CACNA1S):c.112A>T (p.Asn38Tyr)	CACNA1S (N38Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2946801	NM_000069.3(CACNA1S):c.3666+17C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2946721	NM_000069.3(CACNA1S):c.2907-9C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2946529	NM_000069.3(CACNA1S):c.4551G>A (p.Glu1517=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2946382	NM_000069.3(CACNA1S):c.945C>T (p.Val315=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2945753	NM_000069.3(CACNA1S):c.900+11G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2945159	NM_000069.3(CACNA1S):c.901-16C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2944942	NM_000069.3(CACNA1S):c.5135-12T>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2944782	NM_000069.3(CACNA1S):c.3533T>A (p.Phe1178Tyr)	CACNA1S (F1178Y)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2944132	NM_000069.3(CACNA1S):c.4442-13T>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2944082	NM_000069.3(CACNA1S):c.3414+17A>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2943902	NM_000069.3(CACNA1S):c.1542G>A (p.Val514=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2943572	NM_000069.3(CACNA1S):c.4242-20G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2943355	NM_000069.3(CACNA1S):c.2906+18C>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2943119	NM_000069.3(CACNA1S):c.3054-16C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2942718	NM_000069.3(CACNA1S):c.474C>T (p.Gly158=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2942441	NM_000069.3(CACNA1S):c.3047G>A (p.Trp1016Ter)	CACNA1S (W1016*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5 +1 more	GPathogenic
Select item 2942383	NM_000069.3(CACNA1S):c.3462T>A (p.Asn1154Lys)	CACNA1S (N1154K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2942300	NM_000069.3(CACNA1S):c.153G>A (p.Lys51=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2942090	NM_000069.3(CACNA1S):c.259-6C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2941619	NM_000069.3(CACNA1S):c.1948+2T>C	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely pathogenic
Select item 2941531	NM_000069.3(CACNA1S):c.1752G>A (p.Arg584=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2941260	NM_000069.3(CACNA1S):c.3255+20G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2941077	NM_000069.3(CACNA1S):c.1218A>T (p.Lys406Asn)	CACNA1S (K406N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2941073	NM_000069.3(CACNA1S):c.877G>A (p.Gly293Arg)	CACNA1S (G293R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2940976	NM_000069.3(CACNA1S):c.5587G>A (p.Gly1863Ser)	CACNA1S (G1863S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2940714	NM_000069.3(CACNA1S):c.3953+5G>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2940707	NM_000069.3(CACNA1S):c.3796-9G>C	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2940496	NM_000069.3(CACNA1S):c.4596C>T (p.His1532=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2940432	NM_000069.3(CACNA1S):c.3671C>G (p.Pro1224Arg)	CACNA1S (P1224R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2940116	NM_000069.3(CACNA1S):c.4410G>A (p.Leu1470=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2940090	NM_000069.3(CACNA1S):c.900+9G>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2939737	NM_000069.3(CACNA1S):c.2228-16C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2939668	NM_000069.3(CACNA1S):c.466G>A (p.Gly156Arg)	CACNA1S (G156R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2939512	NM_000069.3(CACNA1S):c.1840del (p.Glu614fs)	CACNA1S (E614fs)	Deletion (frameshift variant)	Hypokalemic periodic paralysis, type 1 +1 more	GPathogenic
Select item 2939351	NM_000069.3(CACNA1S):c.2223C>T (p.Phe741=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2939321	NM_000069.3(CACNA1S):c.2921T>G (p.Val974Gly)	CACNA1S (V974G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2939305	NM_000069.3(CACNA1S):c.4797+10A>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2938865	NM_000069.3(CACNA1S):c.2841C>A (p.Val947=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2938811	NM_000069.3(CACNA1S):c.258+17C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2938526	NM_000069.3(CACNA1S):c.2745+16G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2938521	NM_000069.3(CACNA1S):c.3410T>G (p.Met1137Arg)	CACNA1S (M1137R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GUncertain significance
Select item 2938357	NM_000069.3(CACNA1S):c.3219G>A (p.Glu1073=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2938051	NM_000069.3(CACNA1S):c.2360+10C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2938019	NM_000069.3(CACNA1S):c.3796-10C>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2937900	NM_000069.3(CACNA1S):c.2228-13del	CACNA1S	Deletion (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2937865	NM_000069.3(CACNA1S):c.5280G>A (p.Gly1760=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 2937579	NM_000069.3(CACNA1S):c.2064-26_2064-15del	CACNA1S	Deletion (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2937567	NM_000069.3(CACNA1S):c.5293_5294delinsAG (p.Glu1765Arg)	CACNA1S (E1765R)	Indel (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2937450	NM_000069.3(CACNA1S):c.2812C>T (p.Leu938=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2937311	NM_000069.3(CACNA1S):c.4455G>A (p.Gln1485=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2937175	NM_000069.3(CACNA1S):c.2398T>C (p.Trp800Arg)	CACNA1S (W800R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2936973	NM_000069.3(CACNA1S):c.1846T>C (p.Trp616Arg)	CACNA1S (W616R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2936887	NM_000069.3(CACNA1S):c.2752G>A (p.Val918Met)	CACNA1S (V918M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2936767	NM_000069.3(CACNA1S):c.3795+15C>G	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936743	NM_000069.3(CACNA1S):c.153-20C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936702	NM_000069.3(CACNA1S):c.4308G>A (p.Gly1436=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936457	NM_000069.3(CACNA1S):c.2063+12C>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936376	NM_000069.3(CACNA1S):c.5025T>C (p.His1675=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936308	NM_000069.3(CACNA1S):c.694+8C>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936231	NM_000069.3(CACNA1S):c.5563C>T (p.Leu1855=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936207	NM_000069.3(CACNA1S):c.2907-7G>C	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 2936187	NM_000069.3(CACNA1S):c.2853+17G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2936176	NM_000069.3(CACNA1S):c.787G>A (p.Gly263Ser)	CACNA1S (G263S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance

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