C3714580[trait identifier] AND "Institute of Human Genetics, Universit - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 982717	NM_000069.3(CACNA1S):c.4542A>G (p.Gly1514=)	CACNA1S	Single nucleotide variant (synonymous variant)	Hypokalemic periodic paralysis, type 1	GUncertain significance
Select item 265070	NM_000069.3(CACNA1S):c.3026C>T (p.Thr1009Met)	CACNA1S (T1009M)	Single nucleotide variant (missense variant)	Congenital myopathy 18 +4 more	GUncertain significance
Select item 976293	NM_000069.3(CACNA1S):c.2749G>A (p.Val917Met)	CACNA1S (V917M)	Single nucleotide variant (missense variant)	Thyrotoxic periodic paralysis, susceptibility to, 1 +3 more	GUncertain significance
Select item 422578	NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)	CACNA1S (T700M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 429405	NM_000069.3(CACNA1S):c.2048G>A (p.Arg683His)	CACNA1S (R683H)	Single nucleotide variant (missense variant)	Malignant hyperthermia, susceptibility to, 5 +3 more	GConflicting classifications of pathogenicity
Select item 577128	NM_000069.3(CACNA1S):c.1777C>T (p.Arg593Trp)	CACNA1S (R593W)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 1 +2 more	GConflicting classifications of pathogenicity
Select item 294762	NM_000069.3(CACNA1S):c.1629G>T (p.Thr543=)	CACNA1S	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
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 199686	NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)	CACNA1S (S177L)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 575733	NM_000069.3(CACNA1S):c.520C>T (p.Arg174Trp)	CACNA1S (R174W)	Single nucleotide variant (missense variant)	desflurane response - Toxicity +6 more	Gdrug response
Select item 5896	NM_000334.4(SCN4A):c.2111C>T (p.Thr704Met)	GH-LCR, SCN4A (T704M)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2 +8 more	GPathogenic