LOC101929305[gene] - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
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
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 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 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 592053	NM_000069.3(CACNA1S):c.5620T>C (p.Ter1874Arg)	CACNA1S, LOC101929305	Single nucleotide variant (stop lost)	not provided	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 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 591937	NM_000069.3(CACNA1S):c.5069del (p.Phe1690fs)	LOC101929305, CACNA1S (F1690fs)	Deletion (frameshift variant)	not provided	GUncertain significance