Related gene-specific medical variations for Gene (Select 101929305) - ClinVar - NCBI

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

Links from Gene

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 876561	NM_000069.3(CACNA1S):c.*134G>T	CACNA1S, LOC101929305	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 876560	NM_000069.3(CACNA1S):c.*170G>A	CACNA1S, LOC101929305	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 873701	NM_000069.3(CACNA1S):c.5387G>C (p.Gly1796Ala)	CACNA1S, LOC101929305 (G1796A)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 873700	NM_000069.3(CACNA1S):c.5512G>T (p.Ala1838Ser)	CACNA1S, LOC101929305 (A1838S)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 592053	NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg)	CACNA1S, LOC101929305	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 591937	NM_000069.3(CACNA1S):c.5069del (p.Phe1690fs)	LOC101929305, CACNA1S (F1690fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 294703	NM_000069.3(CACNA1S):c.*87G>A	CACNA1S, LOC101929305	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 294699	NM_000069.3(CACNA1S):c.*183C>T	LOC101929305, CACNA1S	Single nucleotide variant (3 prime UTR variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance