C0751122[trait identifier] AND "Equipe Genetique des Anomalies du Deve - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 827818	NM_001165963.4(SCN1A):c.2415+2T>C	SCN1A	Single nucleotide variant (splice donor variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 206755	NM_001165963.4(SCN1A):c.986G>T (p.Gly329Val)	SCN1A (G329V)	Single nucleotide variant (missense variant +2 more)	Severe myoclonic epilepsy in infancy +2 more	GConflicting classifications of pathogenicity