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: 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: 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: rs121918317
rs121918317
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918318
rs121918318
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs121918319
rs121918319
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		G 0.800 CausalMutation CLINVAR
dbSNP: rs121918320
rs121918320
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs587777310
rs587777310
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518985
rs1057518985
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1057519501
rs1057519501
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519537
rs1057519537
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057519538
rs1057519538
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057519539
rs1057519539
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C0543888
Disease:
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1057522982
rs1057522982
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs1060501722
rs1060501722
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1060501723
rs1060501723
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		C 0.700 CausalMutation CLINVAR
dbSNP: rs1060501724
rs1060501724
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C4552072
Disease:
X-linked infantile spasms 		C 0.700 GeneticVariation CLINVAR
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: rs1316686443
rs1316686443
Entrez Id: 6812
Gene Symbol: STXBP1
STXBP1
CUI: C2677326
Disease:
Epileptic Encephalopathy, Early Infantile, 4 		G 0.700 GeneticVariation CLINVAR
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