"Center for Genomic Medicine, King Faisal Specialist Hospital and Rese - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2763715	NM_000334.4(SCN4A):c.4433C>T (p.Ser1478Leu)	GH-LCR, SCN4A (S1478L)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GConflicting classifications of pathogenicity
Select item 2138097	NM_000334.4(SCN4A):c.4382T>C (p.Leu1461Pro)	GH-LCR, SCN4A (L1461P)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GConflicting classifications of pathogenicity
Select item 3065633	NM_000334.4(SCN4A):c.4204C>T (p.Leu1402Phe)	GH-LCR, SCN4A (L1402F)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis	GLikely pathogenic
Select item 143200	NM_000334.4(SCN4A):c.3386G>A (p.Arg1129Gln)	GH-LCR, SCN4A (R1129Q)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 1303156	NM_000334.4(SCN4A):c.2635AAG[1] (p.Lys880del)	GH-LCR, SCN4A (K880del)	Microsatellite (inframe_deletion)	Hyperkalemic periodic paralysis +6 more	GUncertain significance
Select item 477403	NM_000334.4(SCN4A):c.2096C>T (p.Ala699Val)	SCN4A, GH-LCR (A699V)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 5912	NM_000334.4(SCN4A):c.2015G>A (p.Arg672His)	SCN4A (R672H)	Single nucleotide variant (missense variant)	Hyperkalemic periodic paralysis +7 more	GConflicting classifications of pathogenicity
Select item 3065019	NM_000334.4(SCN4A):c.336C>G (p.Tyr112Ter)	SCN4A (Y112*)	Single nucleotide variant (nonsense)	Hyperkalemic periodic paralysis	GUncertain significance