"GeneDx"[submitter] AND "CACNA1S"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 294697	NM_000069.3(CACNA1S):c.*310A>T	CACNA1S	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign
Select item 509209	NM_000069.3(CACNA1S):c.5592C>T (p.Ser1864=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +4 more	GLikely benign
Select item 392278	NM_000069.3(CACNA1S):c.5576A>G (p.Asp1859Gly)	CACNA1S (D1859G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 254850	NM_000069.3(CACNA1S):c.5570G>A (p.Ser1857Asn)	CACNA1S (S1857N)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
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 294705	NM_000069.3(CACNA1S):c.5515C>T (p.Pro1839Ser)	CACNA1S (P1839S)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 294706	NM_000069.3(CACNA1S):c.5510A>C (p.Glu1837Ala)	CACNA1S (E1837A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254849	NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs)	CACNA1S (L1832fs)	Deletion (frameshift variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 392277	NM_000069.3(CACNA1S):c.5462A>G (p.Glu1821Gly)	CACNA1S (E1821G)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 254847	NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser)	CACNA1S (L1800S)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 254846	NM_000069.3(CACNA1S):c.5371-19C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GBenign/Likely benign
Select item 474003	NM_000069.3(CACNA1S):c.5370+10G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 474000	NM_000069.3(CACNA1S):c.5299C>A (p.Pro1767Thr)	CACNA1S (P1767T)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 452887	NM_000069.3(CACNA1S):c.5248A>G (p.Met1750Val)	CACNA1S (M1750V)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 937413	NM_000069.3(CACNA1S):c.5237T>C (p.Val1746Ala)	CACNA1S (V1746A)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 389563	NM_000069.3(CACNA1S):c.5227-20C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 678243	NM_000069.3(CACNA1S):c.5227-54T>C	CACNA1S	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 837079	NM_000069.3(CACNA1S):c.5150C>G (p.Pro1717Arg)	CACNA1S (P1717R)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 509208	NM_000069.3(CACNA1S):c.5135-4A>G	CACNA1S	Single nucleotide variant (intron variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 678241	NM_000069.3(CACNA1S):c.5135-56A>G	CACNA1S	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1204210	NM_000069.3(CACNA1S):c.5135-66C>T	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1192992	NM_000069.3(CACNA1S):c.5135-290G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
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
Select item 647313	NM_000069.3(CACNA1S):c.5105G>C (p.Arg1702Pro)	CACNA1S (R1702P)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 388826	NM_000069.3(CACNA1S):c.5105G>A (p.Arg1702Gln)	CACNA1S (R1702Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 402469	NM_000069.3(CACNA1S):c.5104C>T (p.Arg1702Ter)	CACNA1S (R1702*)	Single nucleotide variant (nonsense)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 541057	NM_000069.3(CACNA1S):c.5087C>T (p.Thr1696Met)	CACNA1S (T1696M)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 541072	NM_000069.3(CACNA1S):c.5049-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 678239	NM_000069.3(CACNA1S):c.5049-145A>G	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 670376	NM_000069.3(CACNA1S):c.5048+162G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 680385	NM_000069.3(CACNA1S):c.5048+8C>T	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 515194	NM_000069.3(CACNA1S):c.4996G>A (p.Ala1666Thr)	CACNA1S (A1666T)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +5 more	GConflicting classifications of pathogenicity
Select item 661824	NM_000069.3(CACNA1S):c.4987A>G (p.Asn1663Asp)	CACNA1S (N1663D)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 566697	NM_000069.3(CACNA1S):c.4984A>T (p.Asn1662Tyr)	CACNA1S (N1662Y)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 541041	NM_000069.3(CACNA1S):c.4972_4973delinsTA (p.Arg1658Tyr)	CACNA1S (R1658Y)	Indel (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GUncertain significance
Select item 254842	NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His)	CACNA1S (R1658H)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 639106	NM_000069.3(CACNA1S):c.4972C>T (p.Arg1658Cys)	CACNA1S (R1658C)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1175628	NM_000069.3(CACNA1S):c.4956C>T (p.Arg1652=)	CACNA1S	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 294709	NM_000069.3(CACNA1S):c.4954C>T (p.Arg1652Cys)	CACNA1S (R1652C)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
Select item 426437	NM_000069.3(CACNA1S):c.4916A>T (p.Glu1639Val)	CACNA1S (E1639V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +5 more	GConflicting classifications of pathogenicity
Select item 1539769	NM_000069.3(CACNA1S):c.4883T>C (p.Leu1628Pro)	CACNA1S (L1628P)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 294710	NM_000069.3(CACNA1S):c.4882C>T (p.Leu1628Phe)	CACNA1S (L1628F)	Single nucleotide variant (missense variant)	Malignant hyperthermia of anesthesia +4 more	GConflicting classifications of pathogenicity
Select item 1315860	NM_000069.3(CACNA1S):c.4864A>C (p.Met1622Leu)	CACNA1S (M1622L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 422977	NM_000069.3(CACNA1S):c.4862T>C (p.Val1621Ala)	CACNA1S (V1621A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 254841	NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 388777	NM_000069.3(CACNA1S):c.4810C>A (p.Leu1604Met)	CACNA1S (L1604M)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GUncertain significance
Select item 639552	NM_000069.3(CACNA1S):c.4798-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 668058	NM_000069.3(CACNA1S):c.4798-278G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197651	NM_000069.3(CACNA1S):c.4798-309C>T	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678237	NM_000069.3(CACNA1S):c.4797+120A>G	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
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 583120	NM_000069.3(CACNA1S):c.4690G>A (p.Glu1564Lys)	CACNA1S (E1564K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 254840	NM_000069.3(CACNA1S):c.4686T>C (p.Ile1562=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia of anesthesia +7 more	GBenign/Likely benign
Select item 872035	NM_000069.3(CACNA1S):c.4679G>A (p.Arg1560Gln)	CACNA1S (R1560Q)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 875615	NM_000069.3(CACNA1S):c.4669-11G>A	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GBenign/Likely benign
Select item 670375	NM_000069.3(CACNA1S):c.4669-150C>T	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204219	NM_000069.3(CACNA1S):c.4668+290G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1218394	NM_000069.3(CACNA1S):c.4668+119C>G	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254839	NM_000069.3(CACNA1S):c.4668+19T>C	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign/Likely benign
Select item 641324	NM_000069.3(CACNA1S):c.4639C>T (p.Arg1547Trp)	CACNA1S (R1547W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 197021	NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys)	CACNA1S (R1539C)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GBenign
Select item 1315867	NM_000069.3(CACNA1S):c.4611G>C (p.Met1537Ile)	CACNA1S (M1537I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1026411	NM_000069.3(CACNA1S):c.4598T>C (p.Phe1533Ser)	CACNA1S (F1533S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 391924	NM_000069.3(CACNA1S):c.4572C>T (p.Tyr1524=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +5 more	GConflicting classifications of pathogenicity
Select item 844985	NM_000069.3(CACNA1S):c.4569C>G (p.Phe1523Leu)	CACNA1S (F1523L)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 2158431	NM_000069.3(CACNA1S):c.4565A>G (p.Lys1522Arg)	CACNA1S (K1522R)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1810138	NM_000069.3(CACNA1S):c.4545T>A (p.Asp1515Glu)	CACNA1S (D1515E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1175670	NM_000069.3(CACNA1S):c.4543+141C>T	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 254838	NM_000069.3(CACNA1S):c.4543+7G>A	CACNA1S	Single nucleotide variant (intron variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +5 more	GBenign
Select item 422368	NM_000069.3(CACNA1S):c.4522C>G (p.Gln1508Glu)	CACNA1S (Q1508E)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GUncertain significance
Select item 1005321	NM_000069.3(CACNA1S):c.4519G>C (p.Asp1507His)	CACNA1S (D1507H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 294716	NM_000069.3(CACNA1S):c.4462G>A (p.Glu1488Lys)	CACNA1S (E1488K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1261909	NM_000069.3(CACNA1S):c.4441+108A>C	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187374	NM_000069.3(CACNA1S):c.4441+33T>G	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670374	NM_000069.3(CACNA1S):c.4441+22dup	CACNA1S	Duplication (intron variant)	not provided	GBenign
Select item 508778	NM_000069.3(CACNA1S):c.4425C>T (p.Leu1475=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +4 more	GLikely benign
Select item 838843	NM_000069.3(CACNA1S):c.4419G>A (p.Thr1473=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
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 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 515432	NM_000069.3(CACNA1S):c.4377C>T (p.Gly1459=)	CACNA1S	Single nucleotide variant (synonymous variant)	Congenital myopathy 18 +4 more	GConflicting classifications of pathogenicity
Select item 541040	NM_000069.3(CACNA1S):c.4340G>A (p.Arg1447Gln)	CACNA1S (R1447Q)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 682330	NM_000069.3(CACNA1S):c.4339-14G>A	CACNA1S	Single nucleotide variant (intron variant)	Hypokalemic periodic paralysis, type 1 +4 more	GLikely benign
Select item 1208346	NM_000069.3(CACNA1S):c.4338+130C>A	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662951	NM_000069.3(CACNA1S):c.4270A>G (p.Thr1424Ala)	CACNA1S (T1424A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1317041	NM_000069.3(CACNA1S):c.4264G>A (p.Val1422Met)	CACNA1S (V1422M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 294721	NM_000069.3(CACNA1S):c.4243G>A (p.Gly1415Arg)	CACNA1S (G1415R)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
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 1256808	NM_000069.3(CACNA1S):c.4242-235A>C	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674462	NM_000069.3(CACNA1S):c.4241+183G>A	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 654707	NM_000069.3(CACNA1S):c.4170C>G (p.Asp1390Glu)	CACNA1S (D1390E)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 514493	NM_000069.3(CACNA1S):c.4114-3C>T	CACNA1S	Single nucleotide variant (intron variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 390913	NM_000069.3(CACNA1S):c.4114-8T>C	CACNA1S	Single nucleotide variant (intron variant)	not specified +5 more	GBenign/Likely benign
Select item 1218918	NM_000069.3(CACNA1S):c.4114-75A>G	CACNA1S	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1298179	NM_000069.3(CACNA1S):c.4113+116C>T	CACNA1S	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320453	NM_000069.3(CACNA1S):c.4099C>G (p.Leu1367Val)	CACNA1S (L1367V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 161208	NM_000069.3(CACNA1S):c.4060A>T (p.Thr1354Ser)	CACNA1S (T1354S)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 294723	NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=)	CACNA1S	Single nucleotide variant (synonymous variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GBenign
Select item 523972	NM_000069.3(CACNA1S):c.4038del (p.Glu1348fs)	CACNA1S (E1348fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 389444	NM_000069.3(CACNA1S):c.4026G>A (p.Ser1342=)	CACNA1S	Single nucleotide variant (synonymous variant)	Malignant hyperthermia, susceptibility to, 5 +4 more	GLikely benign

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