This variant results from a G514A substitution in the KCNJ2 gene ( a change from aspartic acid to asparagine at position 172 (D172N)). This causes a defect in the gene coding for the inwardly rectifying Kir2.1 (I(K1)) channel.  The ECG shows asymmetrical T waves.  These patients have an increased risk for re-entry arrhythmias.
Short QT syndrome type 3
Short QT syndrome type 1
Short QT syndrome type 2
Short QT syndrome type 5
Short QT syndrome type 4
Long QT Syndrome
Long QT syndrome
Singh-Williams-McAlister syndrome