C1858673[trait identifier] AND "Center for Statistical Genetics, Colum - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 521780	NM_001165963.4(SCN1A):c.3530C>G (p.Pro1177Arg)	LOC102724058, SCN1A (P1166R +5 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Generalized epilepsy with febrile seizures plus, type 2 +2 more	GConflicting classifications of pathogenicity
Select item 995993	NM_001165963.4(SCN1A):c.725A>G (p.Gln242Arg)	SCN1A (Q242R)	Single nucleotide variant (missense variant +2 more)	Generalized epilepsy with febrile seizures plus, type 2	GLikely pathogenic