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 A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420

2015
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420

2015
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420

2015
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: 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 Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 20876469

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

2010
dbSNP: rs796053361
rs796053361
STXBP1
A 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 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 Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

2014
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330

2016
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330

2016
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330

2016
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924

2011
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924

2011
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations. 21770924

2011
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728

2015