KCNQ1 and long QT syndrome 1: These variants included a KCNQ1 variant (c.914G > T, p.Trp305Leu) associated with Long QT syndrome 1 (proband 87), and an MEFV variant (c.2082G > A, p.Met694Ile) associated with Familial Mediterranean fever, autosomal dominant (proband 113).