"Revvity Omics, Revvity"[submitter] AND "CACNA1S"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 568360	NM_000069.3(CACNA1S):c.5267G>A (p.Ser1756Asn)	CACNA1S (S1756N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GUncertain significance
Select item 1408026	NM_000069.3(CACNA1S):c.4860dup (p.Val1621fs)	CACNA1S (V1621fs)	Duplication (frameshift variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 639552	NM_000069.3(CACNA1S):c.4798-2A>G	CACNA1S	Single nucleotide variant (splice acceptor variant)	Malignant hyperthermia, susceptibility to, 5 +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)	Thyrotoxic periodic paralysis, susceptibility to, 1 +4 more	GUncertain significance
Select item 294715	NM_000069.3(CACNA1S):c.4546G>C (p.Asp1516His)	CACNA1S (D1516H)	Single nucleotide variant (missense variant)	not provided +2 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 633680	NM_000069.3(CACNA1S):c.4113+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GLikely pathogenic
Select item 567328	NM_000069.3(CACNA1S):c.4113+1G>C	CACNA1S	Single nucleotide variant (splice donor variant)	Hypokalemic periodic paralysis, type 1 +2 more	GLikely pathogenic
Select item 1399747	NM_000069.3(CACNA1S):c.3746G>A (p.Arg1249Gln)	CACNA1S (R1249Q)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 1324004	NM_000069.3(CACNA1S):c.3667-1G>A	CACNA1S	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 2439692	NM_000069.3(CACNA1S):c.3585del (p.Ile1195fs)	CACNA1S (I1195fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 473988	NM_000069.3(CACNA1S):c.3584T>C (p.Ile1195Thr)	CACNA1S (I1195T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 577807	NM_000069.3(CACNA1S):c.3190G>A (p.Val1064Ile)	CACNA1S (V1064I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2195332	NM_000069.3(CACNA1S):c.3112C>T (p.Arg1038Cys)	CACNA1S (R1038C)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2439690	NM_000069.3(CACNA1S):c.3035C>G (p.Thr1012Ser)	CACNA1S (T1012S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2439689	NM_000069.3(CACNA1S):c.2954T>C (p.Leu985Pro)	CACNA1S (L985P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1023717	NM_000069.3(CACNA1S):c.2630C>T (p.Ala877Val)	CACNA1S (A877V)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 969153	NM_000069.3(CACNA1S):c.2468G>A (p.Arg823Gln)	CACNA1S (R823Q)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 977156	NM_000069.3(CACNA1S):c.2366G>A (p.Arg789His)	CACNA1S (R789H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +6 more	GConflicting classifications of pathogenicity
Select item 2688707	NM_000069.3(CACNA1S):c.2294A>G (p.Gln765Arg)	CACNA1S (Q765R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192989	NM_000069.3(CACNA1S):c.2065G>A (p.Gly689Ser)	CACNA1S (G689S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1521923	NM_000069.3(CACNA1S):c.2063+1G>A	CACNA1S	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 875757	NM_000069.3(CACNA1S):c.1637G>A (p.Ser546Asn)	CACNA1S (S546N)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GConflicting classifications of pathogenicity
Select item 17625	NM_000069.3(CACNA1S):c.1583G>A (p.Arg528His)	CACNA1S (R528H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GPathogenic
Select item 2439688	NM_000069.3(CACNA1S):c.1535T>C (p.Leu512Pro)	CACNA1S (L512P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1496753	NM_000069.3(CACNA1S):c.1531A>C (p.Ile511Leu)	CACNA1S (I511L)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 279727	NM_000069.3(CACNA1S):c.1493G>T (p.Arg498Leu)	CACNA1S (R498L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 446957	NM_000069.3(CACNA1S):c.1492C>T (p.Arg498Cys)	CACNA1S (R498C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 2439691	NM_000069.3(CACNA1S):c.947C>T (p.Thr316Ile)	CACNA1S (T316I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 944074	NM_000069.3(CACNA1S):c.862T>G (p.Cys288Gly)	CACNA1S (C288G)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 1058637	NM_000069.3(CACNA1S):c.835G>A (p.Gly279Ser)	CACNA1S (G279S)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1416248	NM_000069.3(CACNA1S):c.826G>A (p.Asp276Asn)	CACNA1S (D276N)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 294774	NM_000069.3(CACNA1S):c.743C>T (p.Thr248Met)	CACNA1S (T248M)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +2 more	GConflicting classifications of pathogenicity
Select item 382754	NM_000069.3(CACNA1S):c.708G>C (p.Thr236=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1 +4 more	GConflicting classifications of pathogenicity
Select item 2688706	NM_000069.3(CACNA1S):c.355C>A (p.Arg119Ser)	CACNA1S (R119S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 36