"Neurogenetics Laboratory - MEYER, AOU Meyer"[submitter] AND "STXBP1"[ - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 375520	NM_001032221.6(STXBP1):c.57_59del (p.Ile19_Lys20delinsMet)	STXBP1	Deletion (inframe_indel)	Epileptic encephalopathy +1 more	GPathogenic
Select item 375545	Single allele	LOC114827831, STXBP1	Duplication	Epileptic encephalopathy	GPathogenic
Select item 207429	NM_001032221.6(STXBP1):c.1099C>T (p.Arg367Ter)	STXBP1 (R367* +3 more)	Single nucleotide variant (nonsense)	Intellectual disability +7 more	GPathogenic
Select item 207431	NM_001032221.6(STXBP1):c.1216C>T (p.Arg406Cys)	STXBP1 (R406C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GPathogenic
Select item 375521	NM_001032221.6(STXBP1):c.1408G>T (p.Glu470Ter)	STXBP1 (E470* +3 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GPathogenic
Select item 375519	NM_001032221.6(STXBP1):c.1565G>A (p.Trp522Ter)	STXBP1 (W522* +3 more)	Single nucleotide variant (nonsense)	Epileptic encephalopathy	GPathogenic

ClinVar