Gene: STXBP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728

2015
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728

2015
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842

2014
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842

2014
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842

2014
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. 9545644

1998
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. 9545644

1998
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Identification and characterization of the human ortholog of rat STXBP1, a protein implicated in vesicle trafficking and neurotransmitter release. 9545644

1998
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Intellectual disability without epilepsy associated with STXBP1 disruption. 21364700

2011
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Intellectual disability without epilepsy associated with STXBP1 disruption. 21364700

2011
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Intellectual disability without epilepsy associated with STXBP1 disruption. 21364700

2011
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Munc18-1 binds directly to the neuronal SNARE complex. 17301226

2007
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Munc18-1 binds directly to the neuronal SNARE complex. 17301226

2007
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Munc18-1 binds directly to the neuronal SNARE complex. 17301226

2007
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188

2015
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188

2015
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome. 25914188

2015
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 22722545

2012
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 22722545

2012
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A. 22722545

2012
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045

2006
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045

2006
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Ohtahara syndrome: with special reference to its developmental aspects for differentiating from early myoclonic encephalopathy. 16829045

2006
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Paternal mosaicism of an STXBP1 mutation in OS. 21062273

2011
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Paternal mosaicism of an STXBP1 mutation in OS. 21062273

2011