ClinVar for MedGen (Select 1841137) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3251945	NM_000334.4(SCN4A):c.4243G>A (p.Gly1415Ser)	GH-LCR, SCN4A (G1415S)	Single nucleotide variant (missense variant)	Potassium-aggravated myotonia +6 more	GUncertain significance
Select item 2573174	NM_000334.4(SCN4A):c.3798G>C (p.Glu1266Asp)	GH-LCR, SCN4A (E1266D)	Single nucleotide variant (missense variant)	Congenital myopathy 22B, severe fetal	GLikely pathogenic
Select item 2573173	NM_000334.4(SCN4A):c.4340T>C (p.Phe1447Ser)	GH-LCR, SCN4A (F1447S)	Single nucleotide variant (missense variant)	Congenital myopathy 22B, severe fetal	GLikely pathogenic
Select item 2501682	NM_000334.4(SCN4A):c.4779C>A (p.Tyr1593Ter)	GH-LCR, SCN4A	Single nucleotide variant (nonsense)	Congenital myopathy 22B, severe fetal	GPathogenic
Select item 2501680	NM_000334.4(SCN4A):c.1144C>A (p.Pro382Thr)	SCN4A	Single nucleotide variant (missense variant)	Congenital myopathy 22B, severe fetal	GPathogenic
Select item 1074599	NM_000334.4(SCN4A):c.608T>A (p.Met203Lys)	SCN4A (M203K)	Single nucleotide variant (missense variant)	Familial hyperkalemic periodic paralysis	GPathogenic

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