ClinVar for Gene (Select 779) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3239479	NM_000069.3(CACNA1S):c.3692C>G (p.Ser1231Cys)	CACNA1S (S1231C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236853	NM_000069.3(CACNA1S):c.541+2T>G	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to	GLikely pathogenic
Select item 3234825	NM_000069.3(CACNA1S):c.4153G>C (p.Asp1385His)	CACNA1S (D1385H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3234648	NM_000069.3(CACNA1S):c.887_899del (p.Asp296fs)	CACNA1S (D296fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3234460	NM_000069.3(CACNA1S):c.472G>T (p.Gly158Cys)	CACNA1S (G158C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233570	NM_000069.3(CACNA1S):c.3276C>G (p.Ala1092=)	CACNA1S	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3233486	NM_000069.3(CACNA1S):c.104C>T (p.Thr35Ile)	CACNA1S (T35I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3136453	NM_000069.3(CACNA1S):c.4954C>G (p.Arg1652Gly)	CACNA1S (R1652G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136452	NM_000069.3(CACNA1S):c.4760C>T (p.Ala1587Val)	CACNA1S (A1587V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136450	NM_000069.3(CACNA1S):c.4517T>C (p.Leu1506Ser)	CACNA1S (L1506S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136449	NM_000069.3(CACNA1S):c.4194C>A (p.His1398Gln)	CACNA1S (H1398Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136448	NM_000069.3(CACNA1S):c.3358T>A (p.Phe1120Ile)	CACNA1S (F1120I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136447	NM_000069.3(CACNA1S):c.3088G>A (p.Asp1030Asn)	CACNA1S (D1030N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136446	NM_000069.3(CACNA1S):c.2399G>T (p.Trp800Leu)	CACNA1S (W800L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3136445	NM_000069.3(CACNA1S):c.1263T>G (p.Phe421Leu)	CACNA1S (F421L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3075483	NM_000069.3(CACNA1S):c.480T>C (p.Asp160=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3075475	NM_000069.3(CACNA1S):c.2257C>A (p.Pro753Thr)	CACNA1S (P753T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075451	NM_000069.3(CACNA1S):c.1948+6C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075449	NM_000069.3(CACNA1S):c.1172G>T (p.Gly391Val)	CACNA1S (G391V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075435	NM_000069.3(CACNA1S):c.3063C>G (p.Tyr1021Ter)	CACNA1S (Y1021*)	Single nucleotide variant (nonsense)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075415	NM_000069.3(CACNA1S):c.1839G>C (p.Gly613=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3075367	NM_000069.3(CACNA1S):c.1129G>A (p.Asp377Asn)	CACNA1S (D377N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075366	NM_000069.3(CACNA1S):c.1361A>C (p.His454Pro)	CACNA1S (H454P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075330	NM_000069.3(CACNA1S):c.1343C>G (p.Ser448Cys)	CACNA1S (S448C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075312	NM_000069.3(CACNA1S):c.5622A>G (p.Ter1874Trp)	CACNA1S	Single nucleotide variant (stop lost)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075308	NM_000069.3(CACNA1S):c.1749dup (p.Arg584fs)	CACNA1S (R584fs)	Duplication (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075305	NM_000069.3(CACNA1S):c.3683C>A (p.Ala1228Asp)	CACNA1S (A1228D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075292	NM_000069.3(CACNA1S):c.4591G>A (p.Glu1531Lys)	CACNA1S (E1531K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075283	NM_000069.3(CACNA1S):c.3076T>G (p.Ser1026Ala)	CACNA1S (S1026A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075267	NM_000069.3(CACNA1S):c.4691_4696del (p.Glu1564_Glu1565del)	CACNA1S	Deletion (inframe_deletion)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075265	NM_000069.3(CACNA1S):c.3610-17_3610-8del	CACNA1S	Deletion (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075243	NM_000069.3(CACNA1S):c.1333A>C (p.Asn445His)	CACNA1S (N445H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075233	NM_000069.3(CACNA1S):c.28G>A (p.Gly10Ser)	CACNA1S (G10S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075226	NM_000069.3(CACNA1S):c.3040G>A (p.Glu1014Lys)	CACNA1S (E1014K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075195	NM_000069.3(CACNA1S):c.2982C>A (p.Asp994Glu)	CACNA1S (D994E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075189	NM_000069.3(CACNA1S):c.3658G>T (p.Gly1220Trp)	CACNA1S (G1220W)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075188	NM_000069.3(CACNA1S):c.3527G>A (p.Gly1176Asp)	CACNA1S (G1176D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075182	NM_000069.3(CACNA1S):c.2906+6T>C	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075163	NM_000069.3(CACNA1S):c.5359C>T (p.Leu1787=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3075153	NM_000069.3(CACNA1S):c.2605A>G (p.Asn869Asp)	CACNA1S (N869D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075079	NM_000069.3(CACNA1S):c.205_216del (p.Ala69_Leu72del)	CACNA1S	Deletion (inframe_deletion)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075074	NM_000069.3(CACNA1S):c.3632G>T (p.Gly1211Val)	CACNA1S (G1211V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075064	NM_000069.3(CACNA1S):c.1951A>G (p.Ile651Val)	CACNA1S (I651V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075061	NM_000069.3(CACNA1S):c.5155G>A (p.Val1719Met)	CACNA1S (V1719M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3075042	NM_000069.3(CACNA1S):c.3208G>C (p.Glu1070Gln)	CACNA1S (E1070Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	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	GUncertain significance
Select item 3074986	NM_000069.3(CACNA1S):c.945C>A (p.Val315=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3074966	NM_000069.3(CACNA1S):c.4805G>A (p.Gly1602Glu)	CACNA1S (G1602E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074963	NM_000069.3(CACNA1S):c.1612A>C (p.Ile538Leu)	CACNA1S (I538L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074962	NM_000069.3(CACNA1S):c.4807G>A (p.Gly1603Ser)	CACNA1S (G1603S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074848	NM_000069.3(CACNA1S):c.3874A>G (p.Ile1292Val)	CACNA1S (I1292V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074833	NM_000069.3(CACNA1S):c.699C>G (p.Ile233Met)	CACNA1S (I233M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074828	NM_000069.3(CACNA1S):c.2608A>G (p.Met870Val)	CACNA1S (M870V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074813	NM_000069.3(CACNA1S):c.2395A>G (p.Thr799Ala)	CACNA1S (T799A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074811	NM_000069.3(CACNA1S):c.4114G>A (p.Val1372Ile)	CACNA1S (V1372I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074791	NM_000069.3(CACNA1S):c.1659C>A (p.Leu553=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3074789	NM_000069.3(CACNA1S):c.801G>A (p.Gly267=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3074782	NM_000069.3(CACNA1S):c.4441+5G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074756	NM_000069.3(CACNA1S):c.1553C>T (p.Ala518Val)	CACNA1S (A518V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074748	NM_000069.3(CACNA1S):c.523C>G (p.Leu175Val)	CACNA1S (L175V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074737	NM_000069.3(CACNA1S):c.5381G>T (p.Arg1794Leu)	CACNA1S (R1794L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074707	NM_000069.3(CACNA1S):c.2739G>A (p.Gly913=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3074676	NM_000069.3(CACNA1S):c.159C>G (p.Phe53Leu)	CACNA1S (F53L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074636	NM_000069.3(CACNA1S):c.4797+4A>C	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074620	NM_000069.3(CACNA1S):c.65A>C (p.Glu22Ala)	CACNA1S (E22A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074599	NM_000069.3(CACNA1S):c.1468C>G (p.Gln490Glu)	CACNA1S (Q490E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074551	NM_000069.3(CACNA1S):c.5315C>A (p.Thr1772Asn)	CACNA1S (T1772N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074528	NM_000069.3(CACNA1S):c.3595C>T (p.Leu1199Phe)	CACNA1S (L1199F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074397	NM_000069.3(CACNA1S):c.720A>C (p.Glu240Asp)	CACNA1S (E240D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074388	NM_000069.3(CACNA1S):c.1669C>A (p.Arg557Ser)	CACNA1S (R557S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074381	NM_000069.3(CACNA1S):c.5126G>C (p.Arg1709Thr)	CACNA1S (R1709T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074375	NM_000069.3(CACNA1S):c.2284G>C (p.Ala762Pro)	CACNA1S (A762P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074373	NM_000069.3(CACNA1S):c.3110A>G (p.Asn1037Ser)	CACNA1S (N1037S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074370	NM_000069.3(CACNA1S):c.2064-13_2065del	CACNA1S	Deletion (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074357	NM_000069.3(CACNA1S):c.3697G>A (p.Ala1233Thr)	CACNA1S (A1233T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074339	NM_000069.3(CACNA1S):c.1046C>G (p.Thr349Ser)	CACNA1S (T349S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074324	NM_000069.3(CACNA1S):c.-10C>T	CACNA1S	Single nucleotide variant (5 prime UTR variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074321	NM_000069.3(CACNA1S):c.1394-15C>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074295	NM_000069.3(CACNA1S):c.4241+4A>C	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074284	NM_000069.3(CACNA1S):c.2827G>C (p.Ala943Pro)	CACNA1S (A943P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074234	NM_000069.3(CACNA1S):c.112A>G (p.Asn38Asp)	CACNA1S (N38D)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074160	NM_000069.3(CACNA1S):c.258G>C (p.Leu86=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3074133	NM_000069.3(CACNA1S):c.2751G>A (p.Val917=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 3074123	NM_000069.3(CACNA1S):c.2360A>G (p.Lys787Arg)	CACNA1S (K787R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074121	NM_000069.3(CACNA1S):c.4244G>A (p.Gly1415Glu)	CACNA1S (G1415E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074107	NM_000069.3(CACNA1S):c.3601G>A (p.Glu1201Lys)	CACNA1S (E1201K)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074099	NM_000069.3(CACNA1S):c.4715_4722del (p.Arg1572fs)	CACNA1S (R1572fs)	Deletion (frameshift variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074092	NM_000069.3(CACNA1S):c.248A>G (p.Asn83Ser)	CACNA1S (N83S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074091	NM_000069.3(CACNA1S):c.5378T>C (p.Val1793Ala)	CACNA1S (V1793A)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074079	NM_000069.3(CACNA1S):c.4301G>T (p.Gly1434Val)	CACNA1S (G1434V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074073	NM_000069.3(CACNA1S):c.4669-12C>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074071	NM_000069.3(CACNA1S):c.4338+5C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074070	NM_000069.3(CACNA1S):c.2228-7C>G	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074061	NM_000069.3(CACNA1S):c.3832TTC[1] (p.Phe1279del)	CACNA1S (F1279del)	Microsatellite (inframe_deletion)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 3074039	NM_000069.3(CACNA1S):c.3299G>A (p.Cys1100Tyr)	CACNA1S (C1100Y)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance

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