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

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17623	NM_000069.3(CACNA1S):c.3716G>A (p.Arg1239His)	CACNA1S (R1239H)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +3 more	GConflicting classifications of pathogenicity
Select item 17624	NM_000069.3(CACNA1S):c.3715C>G (p.Arg1239Gly)	CACNA1S (R1239G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GPathogenic
Select item 1503945	NM_000069.3(CACNA1S):c.2700G>T (p.Arg900Ser)	CACNA1S (R900S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +1 more	GLikely pathogenic
Select item 17630	NM_000069.3(CACNA1S):c.2691G>T (p.Arg897Ser)	CACNA1S (R897S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 17631	NM_000069.3(CACNA1S):c.2627T>A (p.Val876Glu)	CACNA1S (V876E)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1	GLikely pathogenic
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 849085	NM_000069.3(CACNA1S):c.1582C>T (p.Arg528Cys)	CACNA1S (R528C)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 21034	NM_000069.3(CACNA1S):c.1582C>G (p.Arg528Gly)	CACNA1S (R528G)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1	GPathogenic