STXBP1, syntaxin binding protein 1, 6812

N. diseases: 213; N. variants: 62
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern. 24170257 2014
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern. 20887364 2010
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. 23708187 2013
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes. 27864847 2017
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267 2016
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy. 23662938 2013
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		0.800 GeneticVariation UNIPROT A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. 25714420 2015
dbSNP: rs121918321
rs121918321
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		T 0.700 CausalMutation CLINVAR Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases. 26514728 2015
dbSNP: rs121918321
rs121918321
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		T 0.700 CausalMutation CLINVAR De novo STXBP1 mutations in mental retardation and nonsyndromic epilepsy. 19557857 2009
dbSNP: rs121918321
rs121918321
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0014544
Disease:
Epilepsy 		0.010 GeneticVariation BEFREE We identified de novo mutations in STXBP1 (nonsense, p.R388X; splicing, c.169+1G>A) in two patients with severe mental retardation and nonsyndromic epilepsy. 19557857 2009
dbSNP: rs1316686443
rs1316686443
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1461664423
rs1461664423
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0024312
Disease:
Lymphopenia 		0.010 GeneticVariation BEFREE We identified 3 patients with de novo RAC2[E62K] mutations resulting in severe T- and B-cell lymphopenia, myeloid dysfunction, and recurrent respiratory infections. 30723080 2019
dbSNP: rs1461664423
rs1461664423
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0035243
Disease:
Respiratory Tract Infections 		0.010 GeneticVariation BEFREE We identified 3 patients with de novo RAC2[E62K] mutations resulting in severe T- and B-cell lymphopenia, myeloid dysfunction, and recurrent respiratory infections. 30723080 2019
dbSNP: rs1554775960
rs1554775960
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1554776674
rs1554776674
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554776831
rs1554776831
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		ACT 0.700 CausalMutation CLINVAR
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy. 26865513 2016
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy. 18469812 2008
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 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: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Paternal mosaicism of an STXBP1 mutation in OS. 21062273 2011
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. 24623842 2014
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		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: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations. 20876469 2010
dbSNP: rs1554776842
rs1554776842
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0026650
Disease:
Movement Disorders 		A 0.700 CausalMutation CLINVAR Patterns and rates of exonic de novo mutations in autism spectrum disorders. 22495311 2012