Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 26993267

2016
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 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: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR A Case of KCNQ2-Associated Movement Disorder Triggered by Fever. 29129156

2017
dbSNP: rs1555873985
rs1555873985
KCNQ2 ; KCNQ2-AS1
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		C 0.700 GeneticVariation CLINVAR Infantile spasms and encephalopathy without preceding neonatal seizures caused by KCNQ2 R198Q, a gain-of-function variant. 27861786

2017