C2677326[trait identifier] AND "Pediatric Genetics Clinic, Sheba Medic - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 802507	NM_001032221.6(STXBP1):c.236C>T (p.Pro79Leu)	STXBP1 (P65L +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 561119	NM_001032221.6(STXBP1):c.578+1G>A	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GPathogenic