This variant is due to a gain-of-function mutation of the rapid component of the delayed rectifier potassium current HERG (KCNH2) channel(IKr).   The variant is a result of missense mutations which increase IKr. It is associated with sudden death and sudden infant death syndrome.
Short QT syndrome type 1
Short QT syndrome type 2
Short QT syndrome type 3
Short QT syndrome type 5
Short QT syndrome type 4
Long QT Syndrome
Long QT syndrome
Aicardi-Goutieres syndrome