"Neuberg Centre For Genomic Medicine, NCGM"[submitter] AND "STXBP1"[ge - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585547	NM_001032221.6(STXBP1):c.429+2T>G	STXBP1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic
Select item 207422	NM_001032221.6(STXBP1):c.703C>T (p.Arg235Ter)	STXBP1 (R235* +2 more)	Single nucleotide variant (nonsense)	STXBP1-related disorder +3 more	GPathogenic
Select item 207429	NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	STXBP1 (R367* +3 more)	Single nucleotide variant (nonsense)	Cerebellar ataxia +7 more	GPathogenic
Select item 279904	NM_001032221.6(STXBP1):c.1217G>A (p.Arg406His)	STXBP1 (R406H +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 2585616	NM_001032221.6(STXBP1):c.1337T>C (p.Leu446Pro)	STXBP1 (L410P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 2671713	NM_001032221.6(STXBP1):c.1662C>G (p.Tyr554Ter)	STXBP1 (Y518* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GLikely pathogenic

ClinVar