Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs118192213
rs118192213
KCNQ2
AC 0.700 CausalMutation CLINVAR Benign familial neonatal convulsions: always benign? 17129708

2007
dbSNP: rs74315392
rs74315392
KCNQ2
C 0.700 CausalMutation CLINVAR Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2. 12742592

2003
dbSNP: rs117067974
rs117067974
KCNQ2
0.020 GeneticVariation BEFREE The KCNQ2 variant p.Glu515Asp is known to cause benign familial neonatal seizures-1, and this variant showed paternal inheritance. 25819767

2015
dbSNP: rs117067974
rs117067974
KCNQ2
0.020 GeneticVariation BEFREE Two patients with E515D presented with continuous spikes and waves during slow-wave sleep (CSWS), and the other two presented with BFNS. 28038823

2017
dbSNP: rs118192202
rs118192202
KCNQ2
0.010 GeneticVariation BEFREE Electrophysiological experiments revealed that the K(v)7.2 D212G substitution, neutralizing a unique negatively-charged residue in the voltage sensor of K(v)7.2 subunits, altered channel gating, leading to a marked destabilization of the open state, a result consistent with structural analysis of the K(v)7.2 subunit, suggesting a possible pathogenetic role for BFNS of this K(v)7.2 mutation. 19344764

2009
dbSNP: rs118192211
rs118192211
KCNQ2
0.010 GeneticVariation BEFREE The different KCNQ2 abnormalities led to different phenotypes and included a novel intragenic duplication, c.419_430dup, in an infant with BFNS, a 0.761Mb 20q13.3 contiguous gene deletion in an infant with seizures at 3 months, and a recurrent de novo missense mutation c.881C>T in a neonate with "KCNQ2-encephalopathy." 25052858

2014
dbSNP: rs118192192
rs118192192
KCNQ2 ; KCNQ2-AS1
C 0.700 CausalMutation CLINVAR KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. 18625963

2008
dbSNP: rs118192192
rs118192192
KCNQ2 ; KCNQ2-AS1
C 0.700 CausalMutation CLINVAR Sodium and potassium channel dysfunctions in rare and common idiopathic epilepsy syndromes. 19464834

2009
dbSNP: rs118192235
rs118192235
KCNQ2 ; LOC105372724
T 0.700 CausalMutation CLINVAR

dbSNP: rs267607198
rs267607198
KCNQ2 ; LOC105372724
A 0.700 CausalMutation CLINVAR A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation. 15249611

2004
dbSNP: rs118192250
rs118192250
KCNQ3
A 0.810 CausalMutation CLINVAR

dbSNP: rs118192250
rs118192250
KCNQ3
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs118192250
rs118192250
KCNQ3
0.810 GeneticVariation BEFREE The same mutation with a comparable localization in the KCNQ3 (G310V) gene has been found in BFNS patients. 16691402

2006
dbSNP: rs118192248
rs118192248
KCNQ3
C 0.800 CausalMutation CLINVAR

dbSNP: rs118192248
rs118192248
KCNQ3
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs118192249
rs118192249
KCNQ3
0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs118192249
rs118192249
KCNQ3
G 0.800 CausalMutation CLINVAR

dbSNP: rs118192251
rs118192251
KCNQ3
A 0.710 GeneticVariation CLINVAR

dbSNP: rs118192251
rs118192251
KCNQ3
A 0.710 CausalMutation CLINVAR

dbSNP: rs118192251
rs118192251
KCNQ3
0.710 GeneticVariation BEFREE The degree of functional impairment of channels incorporating KCNQ3 R330L subunits was larger than that of channels carrying another KCNQ3 mutation affecting the same codon but leading to a different amino acid substitution (p.R330C), previously identified in two families with typical BFNS. 25524373

2015
dbSNP: rs118192247
rs118192247
KCNQ3
T 0.700 CausalMutation CLINVAR

dbSNP: rs118192252
rs118192252
KCNQ3
C 0.700 CausalMutation CLINVAR

dbSNP: rs118192254
rs118192254
KCNQ3
C 0.700 CausalMutation CLINVAR

dbSNP: rs1554627439
rs1554627439
KCNQ3
G 0.700 GeneticVariation CLINVAR

dbSNP: rs749205120
rs749205120
KCNQ3
T 0.700 GeneticVariation CLINVAR