Gene symbol and protein
Gene Location
All allelic disease phenotypes - locus/disease symbols
SCN5A
voltage-gated sodium channel type V alpha

3p21
* Progressive familial heart block, type I - PFHBI (7.7, 10.111, 10.116, 10.31, 10.89)
* Hereditary bundle branch system defect - HBBD (7.7, 10.111, 10.116, 10.31, 10.89)
* Cardiac conduction defect, progressive - PCCD (7.7, 10.111, 10.116, 10.31, 10.89)
* Brugada syndrome - SCN5A (7.7, 10.111, 10.116, 10.31, 10.89)
* Cardiomyopathy, dilated, 1E - CMD1E (7.7, 10.111, 10.116, 10.31, 10.89)
* Ventricular fibrillation, idiopathic - IVF (7.7, 10.111, 10.116, 10.31, 10.89)
* Ventricular fibrillation, paroxysmal familial - VF (7.7, 10.111, 10.116, 10.31, 10.89)
* Long QT syndrome-3 - LQT3 (7.7, 10.111, 10.116, 10.31, 10.89)
* Sick Sinus Syndrome 1, autosomal recessive - SSS1 (7.7, 10.111, 10.116, 10.31, 10.89)

Gene symbol and protein	Gene Location	All allelic disease phenotypes - locus/disease symbols
SCN5A voltage-gated sodium channel type V alpha	3p21	* Progressive familial heart block, type I - PFHBI (7.7, 10.111, 10.116, 10.31, 10.89) * Hereditary bundle branch system defect - HBBD (7.7, 10.111, 10.116, 10.31, 10.89) * Cardiac conduction defect, progressive - PCCD (7.7, 10.111, 10.116, 10.31, 10.89) * Brugada syndrome - SCN5A (7.7, 10.111, 10.116, 10.31, 10.89) * Cardiomyopathy, dilated, 1E - CMD1E (7.7, 10.111, 10.116, 10.31, 10.89) * Ventricular fibrillation, idiopathic - IVF (7.7, 10.111, 10.116, 10.31, 10.89) * Ventricular fibrillation, paroxysmal familial - VF (7.7, 10.111, 10.116, 10.31, 10.89) * Long QT syndrome-3 - LQT3 (7.7, 10.111, 10.116, 10.31, 10.89) * Sick Sinus Syndrome 1, autosomal recessive - SSS1 (7.7, 10.111, 10.116, 10.31, 10.89)