Table 2, Diseases and phenotypes associated with SCN5A genetic variation.

Overview of the diseases and phenotypes associated with genetic variation in SCN5A, with the level of evidence, Online Mendelian Inheritance in Man (OMIM) database numbers and pertinent references.

OMIM	disease/phenotype	evidence	references
614022	Familial Atrial Fibrillation	Candidate gene approach	(Laitinen-Forsblom et al. 2006; Ellinor et al. 2008; Darbar et al. 2008)
601144	Brugada syndrome	Candidate gene approach, cosegregation, functional studies, confirmed in many patients	(Crotti et al. 2012; Bezzina et al. 1999; Chen et al. 1998; Remme et al. 2006)
601154	Dilated Cardiomyopathy	Linkage analysis, contradicting results	(Olson et al. 2005; Laurent et al. 2012; Bezzina et al. 2003; McNair et al. 2004)
113900	Cardiac Conduction Disease	Linkage analysis and functional studies	(Schott et al. 1999; Tan et al. 2001)
603830	Long QT syndrome	Linkage analysis and functional studies	(Tester et al. 2005; Wang et al. 1995; Bezzina et al. 1999; Veldkamp et al. 2003; Remme et al. 2006)
608567	Sick sinus syndrome	Candidate gene approach	(Benson et al. 2003)
603829	Familial ventricular fibrillation	Candidate gene approach	(Akai et al. 2000)
272120	Sudden infant death syndrome, susceptibility to	Candidate gene approach	(Schwartz et al. 2000; Ackerman et al. 2001; Plant et al. 2006)
613601	Early Repolarisation syndrome	Candidate gene approach	(Watanabe et al. 2013; Watanabe et al. 2011)
108980	QRS interval duration	GWAS signal replicated in many independent studies	(Ritchie et al. 2013; Jeff et al. 2013; Smith et al. 2009)
610141	QTc interval duration	GWAS signal replicated in many independent studies	(Smith et al. 2011; Holm et al. 2010; Noseworthy et al. 2011; Sotoodehnia et al. 2010; Gaunt et al. 2012; Chambers et al. 2010)
108980	PR interval duration	GWAS signal replicated in many independent studies	(Jeff et al. 2011; Smith et al. 2011; Holm et al. 2010; Chambers et al. 2010; Sotoodehnia et al. 2010; Gaunt et al. 2012)
-	Multifocal ectopic Purkinje-related premature contractions (MEPPC)	Candidate gene approach	(Laurent et al. 2012; Mann et al. 2012; Nair et al. 2012; Swan et al. 2014)