"Blueprint Genetics"[submitter] AND "STXBP1"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 974571	NM_001032221.6(STXBP1):c.246+1G>C	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 974572	NM_001032221.6(STXBP1):c.624del (p.Lys208fs)	STXBP1 (K194fs +2 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic