"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "SCN4A"[gen - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341436	NM_000334.4(SCN4A):c.4784C>G (p.Ala1595Gly)	GH-LCR, SCN4A (A1595G)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg	GUncertain significance
Select item 2627464	NM_000334.4(SCN4A):c.4501A>G (p.Met1501Val)	GH-LCR, SCN4A (M1501V)	Single nucleotide variant (missense variant)	Hypokalemic periodic paralysis, type 2	GUncertain significance
Select item 655145	NM_000334.4(SCN4A):c.4201G>A (p.Val1401Met)	GH-LCR, SCN4A (V1401M)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GUncertain significance
Select item 5920	NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	GH-LCR, SCN4A (G1306E)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +7 more	GPathogenic
Select item 21151	NM_000334.4(SCN4A):c.2014C>T (p.Arg672Cys)	SCN4A (R672C)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis +2 more	GPathogenic
Select item 2671646	NM_000334.4(SCN4A):c.1534A>G (p.Thr512Ala)	SCN4A (T512A)	Single nucleotide variant (missense variant)	Paramyotonia congenita of Von Eulenburg	GUncertain significance

ClinVar