Gene: KCNQ2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192212
rs118192212
KCNQ2
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555869758
rs1555869758
KCNQ2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1568925507
rs1568925507
KCNQ2
TCTTCTCAAAGTGCTTCTGCCTGTGCTGCTCCTGAAC 0.700 CausalMutation CLINVAR

dbSNP: rs1568927820
rs1568927820
KCNQ2
C 0.700 GeneticVariation CLINVAR

dbSNP: rs397514582
rs397514582
KCNQ2
A 0.700 CausalMutation CLINVAR

dbSNP: rs794727134
rs794727134
KCNQ2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727740
rs794727740
KCNQ2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs794727741
rs794727741
KCNQ2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs797044938
rs797044938
KCNQ2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886041339
rs886041339
KCNQ2
CG 0.700 CausalMutation CLINVAR

dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Familial neonatal and infantile seizures: an autosomal-dominant disorder. 6476007

1984
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Seizure characteristics in chromosome 20 benign familial neonatal convulsions. 8327138

1993
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. 9425895

1998
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. 9872318

1998
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
dbSNP: rs1555850151
rs1555850151
KCNQ2
GGCCCA 0.700 GeneticVariation CLINVAR KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum. 14534157

2003
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Novel mutations in the KCNQ2 gene link epilepsy to a dysfunction of the KCNQ2-calmodulin interaction. 14985406

2004
dbSNP: rs1568940442
rs1568940442
KCNQ2
A 0.700 GeneticVariation CLINVAR Atypical gating of M-type potassium channels conferred by mutations in uncharged residues in the S4 region of KCNQ2 causing benign familial neonatal convulsions. 17475800

2007
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Adult Kcnq2(A306T/+) and Kcnq3(G311V/+) heterozygous knock-in mice exhibited reduced thresholds to electrically induced seizures compared to wild-type littermate mice. 18483067

2008
dbSNP: rs74315390
rs74315390
KCNQ2
T 0.710 CausalMutation CLINVAR Electroconvulsive seizure thresholds and kindling acquisition rates are altered in mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions. 19453707

2009
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR The first Korean case of KCNQ2 mutation in a family with benign familial neonatal convulsions. 20119593

2010
dbSNP: rs1555850151
rs1555850151
KCNQ2
GGCCCA 0.700 GeneticVariation CLINVAR A novel degradation signal derived from distal C-terminal frameshift mutations of KCNQ2 protein which cause neonatal epilepsy. 21937445

2011
dbSNP: rs587777219
rs587777219
KCNQ2
A 0.700 GeneticVariation CLINVAR Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome. 22926866

2012
dbSNP: rs118192226
rs118192226
KCNQ2
A 0.700 CausalMutation CLINVAR Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance. 23360469

2013