C2677326[trait identifier] AND "Center for Genomic Medicine, King Fais - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065647	NM_001032221.6(STXBP1):c.226C>G (p.Leu76Val)	STXBP1 (L62V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 207418	NM_001032221.6(STXBP1):c.569G>A (p.Arg190Gln)	STXBP1 (R190Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3064963	NM_001032221.6(STXBP1):c.1045C>G (p.His349Asp)	STXBP1 (H313D +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 280041	NM_001032221.6(STXBP1):c.1060T>C (p.Cys354Arg)	STXBP1 (C354R +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4 +1 more	GPathogenic
Select item 1686237	NM_001032221.6(STXBP1):c.1108C>T (p.Gln370Ter)	STXBP1 (Q334* +3 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 4	GPathogenic
Select item 3067958	NM_001032221.6(STXBP1):c.1640T>C (p.Leu547Pro)	STXBP1 (L511P +3 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 4	GUncertain significance
Select item 207440	NM_001032221.6(STXBP1):c.1651C>T (p.Arg551Cys)	STXBP1 (R551C +3 more)	Single nucleotide variant (missense variant)	See cases +4 more	GPathogenic

ClinVar