Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		A 0.800 CausalMutation CLINVAR Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes. 28806457

2017
dbSNP: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		A 0.800 CausalMutation CLINVAR Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations. 29264397

2017
dbSNP: rs1555889130
rs1555889130
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		A 0.800 CausalMutation CLINVAR De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325

2015
dbSNP: rs587777848
rs587777848
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		C 0.800 CausalMutation CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438

2014
dbSNP: rs587777848
rs587777848
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		T 0.800 CausalMutation CLINVAR

dbSNP: rs587777849
rs587777849
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		A 0.800 CausalMutation CLINVAR

dbSNP: rs587777850
rs587777850
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1060499592
rs1060499592
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1064794764
rs1064794764
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		A 0.700 CausalMutation CLINVAR

dbSNP: rs1179351306
rs1179351306
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		C 0.700 CausalMutation CLINVAR

dbSNP: rs1555889090
rs1555889090
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889103
rs1555889103
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		G 0.700 GeneticVariation CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438

2014
dbSNP: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
CUI: C4015119
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 26 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889108
rs1555889108
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Novel KCNB1 mutation associated with non-syndromic intellectual disability. 27928161

2017
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients. 27652284

2016
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion. 26648591

2016
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De novo KCNB1 mutations in infantile epilepsy inhibit repetitive neuronal firing. 26477325

2015
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR De novo KCNB1 mutations in epileptic encephalopathy. 25164438

2014
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Kv2.1: a voltage-gated k+ channel critical to dynamic control of neuronal excitability. 15950285

2005
dbSNP: rs1555889114
rs1555889114
KCNB1 ; LOC105372649
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		T 0.700 GeneticVariation CLINVAR Differential spatiotemporal expression of K+ channel polypeptides in rat hippocampal neurons developing in situ and in vitro. 7751950

1995
dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
CUI: C0036572
Disease: Seizures
Seizures 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
CUI: C0454644
Disease: Delayed speech and language development
Delayed speech and language development 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
CUI: C1843367
Disease: Poor school performance
Poor school performance 		T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555889127
rs1555889127
KCNB1 ; LOC105372649
CUI: C0543888
Disease: Epileptic encephalopathy
Epileptic encephalopathy 		T 0.700 CausalMutation CLINVAR