ClinVar for MedGen (Select 1638448) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 392633	NM_001040142.2(SCN2A):c.2767T>C (p.Trp923Arg)	SCN2A (W923R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 206999	NM_001040142.2(SCN2A):c.4264A>G (p.Lys1422Glu)	SCN2A (K1422E)	Single nucleotide variant (missense variant)	not provided	GPathogenic