Variant Gene Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315391
rs74315391
0.700 CausalMutation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2018

dbSNP: rs74315392
rs74315392
0.700 CausalMutation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2018

dbSNP: rs796052621
rs796052621
0.700 CausalMutation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2018

dbSNP: rs797044938
rs797044938
0.700 GeneticVariation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2018

dbSNP: rs74315391
rs74315391
0.700 CausalMutation CLINVAR Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 27861786

2017

dbSNP: rs74315391
rs74315391
0.700 CausalMutation CLINVAR Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 28602030

2017

dbSNP: rs74315391
rs74315391
0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2017

dbSNP: rs74315392
rs74315392
0.700 CausalMutation CLINVAR Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 27861786

2017

dbSNP: rs74315392
rs74315392
0.700 CausalMutation CLINVAR Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 28602030

2017

dbSNP: rs74315392
rs74315392
0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2017

dbSNP: rs796052621
rs796052621
0.700 CausalMutation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2017

dbSNP: rs796052621
rs796052621
0.700 CausalMutation CLINVAR Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 27861786

2017

dbSNP: rs796052621
rs796052621
0.700 CausalMutation CLINVAR Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 28602030

2017

dbSNP: rs797044938
rs797044938
0.700 GeneticVariation CLINVAR Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 27861786

2017

dbSNP: rs797044938
rs797044938
0.700 GeneticVariation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2017

dbSNP: rs797044938
rs797044938
0.700 GeneticVariation CLINVAR Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures. 28602030

2017

dbSNP: rs74315391
rs74315391
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs74315391
rs74315391
0.700 CausalMutation CLINVAR KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407

2016

dbSNP: rs74315392
rs74315392
0.700 CausalMutation CLINVAR KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407

2016

dbSNP: rs74315392
rs74315392
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs796052621
rs796052621
0.700 CausalMutation CLINVAR KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407

2016

dbSNP: rs796052621
rs796052621
0.700 CausalMutation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs797044938
rs797044938
0.700 GeneticVariation CLINVAR KCNQ2 encephalopathy: Features, mutational hot spots, and ezogabine treatment of 11 patients. 27602407

2016

dbSNP: rs797044938
rs797044938
0.700 GeneticVariation CLINVAR Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy. 26795593

2016

dbSNP: rs74315391
rs74315391
0.700 CausalMutation CLINVAR Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome. 25982755

2015