Gene: STXBP1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
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 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 A new paradigm for West syndrome based on molecular and cell biology. 16806828

2006
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR A new paradigm for West syndrome based on molecular and cell biology. 16806828

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: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR A new paradigm for West syndrome based on molecular and cell biology. 16806828

2006
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 De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812

2008
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812

2008
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812

2008
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857

2009
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857

2009
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857

2009
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364

2010
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. 21204804

2010
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 20876469

2010
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795

2010
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome--result of Japanese cohort study. 21204804

2010
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 20876469

2010
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. 20196795

2010