Two were reported as previously associated with disease: KCNH2 (NM_000238.3) N-terminus variant p.G71R associated with LQTS type 2 [37]; SCN5A (NM_198056.2) variant p.T220I located in the first transmembrane domain (a region associated with high probability of pathogenicity) [18] which demonstrates in-vitro sodium channel dysfunction [38] and co-segregation with dilated cardiomyopathy and heart block [39]. The gene discussed is KCNH2; the disease is Heart block.