C0751122[trait identifier] AND "Human Genetics Unit, University Of Col - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978265	NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)	SCN1A (L174R +5 more)	Single nucleotide variant (missense variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic
Select item 2687882	NM_001165963.4(SCN1A):c.2415+1G>T	SCN1A	Single nucleotide variant (5 prime UTR variant +1 more)	Severe myoclonic epilepsy in infancy	GLikely pathogenic