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 Epilepsy is not a mandatory feature of STXBP1 associated ataxia-tremor-retardation syndrome. 27184330

2016
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360

2016
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513

2016
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360

2016
dbSNP: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513

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 STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513

2016
dbSNP: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly. 26537360

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 patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728

2015
dbSNP: rs1554777375
rs1554777375
STXBP1
TA 0.700 CausalMutation CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899

2015
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: 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 Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728

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: 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: rs1554778941
rs1554778941
STXBP1
T 0.700 CausalMutation CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899

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: 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: rs796053361
rs796053361
STXBP1
A 0.700 CausalMutation CLINVAR Whole-genome sequencing of quartet families with autism spectrum disorder. 25621899

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 Dravet syndrome--from epileptic encephalopathy to channelopathy. 24836964

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

2014