"Color Diagnostics, LLC DBA Color Health"[submitter] AND "CACNA1S"[gen - ClinVar

Search results

Items: 98

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 254850	NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	CACNA1S (S1857N)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 294705	NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)	CACNA1S (P1839S)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 254847	NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)	CACNA1S (L1800S)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 474000	NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)	CACNA1S (P1767T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 2047865	NM_000069.3(CACNA1S):c.5005G>A (p.Ala1669Thr)	CACNA1S (A1669T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254842	NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His)	CACNA1S (R1658H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 541047	NM_000069.3(CACNA1S):c.4962C>T (p.Asn1654=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 294709	NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)	CACNA1S (R1652C)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 254841	NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign
Select item 294714	NM_000069.3(CACNA1S):c.4747G>A (p.Glu1583Lys)	CACNA1S (E1583K)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GLikely benign
Select item 643903	NM_000069.3(CACNA1S):c.4731C>G (p.Asp1577Glu)	CACNA1S (D1577E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 197021	NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys)	CACNA1S (R1539C)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 664640	NM_000069.3(CACNA1S):c.4166G>A (p.Arg1389Gln)	CACNA1S (R1389Q)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 390913	NM_000069.3(CACNA1S):c.4114-8T>C	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 161208	NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)	CACNA1S (T1354S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 294723	NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign
Select item 254834	NM_000069.3(CACNA1S):c.3953+6C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 728353	NM_000069.3(CACNA1S):c.3876C>T (p.Ile1292=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GLikely benign
Select item 1543308	NM_000069.3(CACNA1S):c.3852C>T (p.Ile1284=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +2 more	GLikely benign
Select item 1026112	NM_000069.3(CACNA1S):c.3823G>A (p.Val1275Ile)	CACNA1S (V1275I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 254831	NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign
Select item 473991	NM_000069.3(CACNA1S):c.3807C>T (p.Tyr1269=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 254829	NM_000069.3(CACNA1S):c.3796-9G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided +5 more	GBenign
Select item 254827	NM_000069.3(CACNA1S):c.3795+3G>A	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 699614	NM_000069.3(CACNA1S):c.3663C>T (p.Asn1221=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GLikely benign
Select item 541062	NM_000069.3(CACNA1S):c.3657C>T (p.Cys1219=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GLikely benign
Select item 541049	NM_000069.3(CACNA1S):c.3616C>T (p.Leu1206=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 294730	NM_000069.3(CACNA1S):c.3606C>T (p.Ile1202=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +3 more	GBenign/Likely benign
Select item 573557	NM_000069.3(CACNA1S):c.3530A>T (p.Tyr1177Phe)	CACNA1S (Y1177F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 875662	NM_000069.3(CACNA1S):c.3415-13G>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GBenign/Likely benign
Select item 254825	NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +5 more	GBenign
Select item 17626	NM_000069.3(CACNA1S):c.3257G>A (p.Arg1086His)	CACNA1S (R1086H)	Single nucleotide variant (missense variant)	isoflurane response - Toxicity +6 more	Gdrug response
Select item 2775011	NM_000069.3(CACNA1S):c.3233A>T (p.Asn1078Ile)	CACNA1S (N1078I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 943793	NM_000069.3(CACNA1S):c.3083C>T (p.Ala1028Val)	CACNA1S (A1028V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 1547360	NM_000069.3(CACNA1S):c.3054-6C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 225282	NM_000069.3(CACNA1S):c.2992G>A (p.Asp998Asn)	CACNA1S (D998N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
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 2775012	NM_000069.3(CACNA1S):c.2908G>A (p.Gly970Ser)	CACNA1S (G970S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GUncertain significance
Select item 2775013	NM_000069.3(CACNA1S):c.2874C>G (p.Thr958=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5	GLikely benign
Select item 2775014	NM_000069.3(CACNA1S):c.2873C>T (p.Thr958Ile)	CACNA1S (T958I)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 294738	NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 254822	NM_000069.3(CACNA1S):c.2748C>T (p.His916=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign
Select item 254821	NM_000069.3(CACNA1S):c.2746-14C>T	CACNA1S	Single nucleotide variant (intron variant)	not specified +5 more	GBenign
Select item 254819	NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
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 646037	NM_000069.3(CACNA1S):c.2593C>T (p.Arg865Cys)	CACNA1S (R865C)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 998424	NM_000069.3(CACNA1S):c.2512G>A (p.Gly838Arg)	CACNA1S (G838R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity
Select item 254816	NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr)	CACNA1S (M827T)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 254815	NM_000069.3(CACNA1S):c.2454G>A (p.Ala818=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 294744	NM_000069.3(CACNA1S):c.2440G>A (p.Ala814Thr)	CACNA1S (A814T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 254814	NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign
Select item 1148907	NM_000069.3(CACNA1S):c.2361-4C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2775015	NM_000069.3(CACNA1S):c.2361-9C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 294747	NM_000069.3(CACNA1S):c.2361-11C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign
Select item 1062995	NM_000069.3(CACNA1S):c.2218G>A (p.Asp740Asn)	CACNA1S (D740N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 254809	NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 473969	NM_000069.3(CACNA1S):c.1890G>A (p.Pro630=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +5 more	GBenign/Likely benign
Select item 254804	NM_000069.3(CACNA1S):c.1828-5T>C	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 254803	NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn)	CACNA1S (S606N)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 294761	NM_000069.3(CACNA1S):c.1670G>A (p.Arg557His)	CACNA1S (R557H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign/Likely benign
Select item 294762	NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign/Likely benign
Select item 473965	NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu)	CACNA1S (R528L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 254801	NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign
Select item 2775016	NM_000069.3(CACNA1S):c.1561C>T (p.Pro521Ser)	CACNA1S (P521S)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 254800	NM_000069.3(CACNA1S):c.1551T>C (p.Gly517=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GBenign
Select item 254799	NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 225281	NM_000069.3(CACNA1S):c.1547C>T (p.Ser516Leu)	CACNA1S (S516L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign/Likely benign
Select item 254797	NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GBenign
Select item 254795	NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=)	CACNA1S	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 254793	NM_000069.3(CACNA1S):c.1452C>T (p.Tyr484=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 2775017	NM_000069.3(CACNA1S):c.1394-4A>G	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely benign
Select item 1120289	NM_000069.3(CACNA1S):c.1394-8C>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2428558	NM_000069.3(CACNA1S):c.1371_1373delinsGCA (p.Leu458His)	CACNA1S (L458H)	Indel (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GBenign
Select item 294767	NM_000069.3(CACNA1S):c.1352C>T (p.Ser451Leu)	CACNA1S (S451L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 695964	NM_000069.3(CACNA1S):c.1305T>C (p.Tyr435=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GLikely benign
Select item 294768	NM_000069.3(CACNA1S):c.1301T>C (p.Phe434Ser)	CACNA1S (F434S)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 652050	NM_000069.3(CACNA1S):c.1180G>A (p.Asp394Asn)	CACNA1S (D394N)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 2065228	NM_000069.3(CACNA1S):c.1151-13C>G	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 2775018	NM_000069.3(CACNA1S):c.1030G>A (p.Ala344Thr)	CACNA1S (A344T)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 294770	NM_000069.3(CACNA1S):c.951C>T (p.Leu317=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 474007	NM_000069.3(CACNA1S):c.898T>C (p.Trp300Arg)	CACNA1S (W300R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 651603	NM_000069.3(CACNA1S):c.896A>T (p.Tyr299Phe)	CACNA1S (Y299F)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GUncertain significance
Select item 254854	NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +5 more	GBenign
Select item 445303	NM_000069.3(CACNA1S):c.773G>T (p.Gly258Val)	CACNA1S (G258V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 254853	NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp)	CACNA1S (G258D)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GBenign/Likely benign
Select item 876796	NM_000069.3(CACNA1S):c.766A>G (p.Ile256Val)	CACNA1S (I256V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 541071	NM_000069.3(CACNA1S):c.639C>T (p.Ile213=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +1 more	GLikely benign
Select item 254852	NM_000069.3(CACNA1S):c.597C>T (p.Ile199=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GBenign
Select item 873988	NM_000069.3(CACNA1S):c.542-13C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 507513	NM_000069.3(CACNA1S):c.540T>C (p.Pro180=)	CACNA1S	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 575733	NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	CACNA1S (R174W)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +6 more	Gdrug response
Select item 446963	NM_000069.3(CACNA1S):c.490C>T (p.Leu164Phe)	CACNA1S (L164F)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 294779	NM_000069.3(CACNA1S):c.398+3G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis +6 more	GConflicting classifications of pathogenicity
Select item 294783	NM_000069.3(CACNA1S):c.324C>T (p.Tyr108=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 2775019	NM_000069.3(CACNA1S):c.293C>T (p.Ser98Leu)	CACNA1S (S98L)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5	GUncertain significance
Select item 422981	NM_000069.3(CACNA1S):c.262A>G (p.Lys88Glu)	CACNA1S (K88E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GConflicting classifications of pathogenicity
Select item 254811	NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly)	CACNA1S (A69G)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign
Select item 488912	NM_000069.3(CACNA1S):c.-4A>G	CACNA1S	Single nucleotide variant (5 prime UTR variant)	not provided +2 more	GConflicting classifications of pathogenicity

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Items: 98