"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 5903	NM_000334.4(SCN4A):c.3917G>T (p.Gly1306Val)	GH-LCR, SCN4A (G1306V)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GPathogenic
Select item 931913	NM_000334.4(SCN4A):c.3539A>G (p.Asn1180Ser)	GH-LCR, SCN4A (N1180S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 374058	NM_000334.4(SCN4A):c.2095G>A (p.Ala699Thr)	GH-LCR, SCN4A (A699T)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +3 more	GConflicting classifications of pathogenicity
Select item 931479	NM_000334.4(SCN4A):c.2012T>G (p.Phe671Cys)	SCN4A (F671C)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GLikely pathogenic
Select item 373945	NM_000334.4(SCN4A):c.1333G>T (p.Val445Leu)	SCN4A (V445L)	Single nucleotide variant (missense variant)	Muscle weakness +6 more	GConflicting classifications of pathogenicity
Select item 931374	NM_000334.4(SCN4A):c.739G>A (p.Val247Met)	SCN4A (V247M)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +1 more	GUncertain significance
Select item 931433	NM_000334.4(SCN4A):c.703+1G>T	SCN4A	Single nucleotide variant (splice donor variant)	Familial hyperkalemic periodic paralysis	GPathogenic

ClinVar