Table 1.

: Cardiovascular pathologies associated with K_ATP channel variants

Gene	Nucleotide change	Protein change	Mutation feature	Clinical Condition	References
KCNJ11	c.67 G>A	E23K	GOF	Heart failure, hypertension, ventricular arrhythmias	56–63
	c.570 C>T	A190A	GOF	Hypertension	56, 58, 59
	c.1009 G>A	I337V	GOF	Heart failure, hypertension	56, 64
KCNJ8	c.193 G>A	V65M	GOF	Cantu syndrome	65
	c.526 T>A	C176S	GOF	Cantu syndrome	66
	c.del995–997 GAA	E332del	LOF	sudden infant death syndrome	67
	c.1036 G>A	V346I	LOF	sudden infant death syndrome	67
	c.1265C>T	S422L	GOF	J wave syndrome, atrial fibrillation	68–71
ABCC8	c.A214G	N72D	LOF	Pulmonary arterial hypertension, Atrial septal defect	72
	c.G331A	G111R	LOF	Pulmonary arterial hypertension	72
	c.C403G	L135V	LOF	Pulmonary arterial hypertension, Heart block	72
	c.G558T	E186D	LOF	Pulmonary arterial hypertension	72
	c.C686T	T229I	LOF	Pulmonary arterial hypertension	72
	c.G718A	A240T	LOF	Pulmonary arterial hypertension	72
	c.G2371C	E791Q	LOF	Pulmonary arterial hypertension	72
	c.G2437A	E813N	LOF	Pulmonary arterial hypertension, Atrial fibrillation	72
	c.G2873A	R958H	LOF	Pulmonary arterial hypertension	72
	c.G3941A	R1314H	LOF	Pulmonary arterial hypertension, Ventricular septal defect, Atrial fibrillation	72, 73
	c.4105G>T	A1369S	LOF	Reduced risk of coronary heart disease	74
	c.G4414A	D1472N	LOF	Pulmonary arterial hypertension	72
ABCC9	c.178C>T	H60Y	GOF	Cantu syndrome	75
	c.621C>A	D207E	GOF	Cantu syndrome	75
	c.1138G>T	G380C	GOF	Cantu syndrome	75
	c.1295C>T	P432L	GOF	Cantu syndrome	75
	c.1433C>T	A478V	GOF	Cantu syndrome	76
	c.2200G>A	V734I	GOF	myocardial infarction, Bradycardia, ICCD early repolarization syndrome,	77–80
	c.3058T>C	S1020P	GOF	Cantu syndrome	75
	c.3116T>C	F1039S	GOF	Cantu syndrome	75
	c.3128G>A	C1043Y	GOF	Cantu syndrome	76
		C1050F	GOF	Cantu syndrome	81
	c.3161C>A	S1054Y	GOF	Cantu syndrome	75
	c.3347G>A	R1116H	GOF	Cantu syndrome	75
	c.3346C>T	R1116C	GOF	Cantu syndrome	75
	c.3460C>T	R1154W	GOF	Cantu syndrome	75, 76, 82, 83
	c.3461G>A	R1154Q	GOF	Cantu syndrome	75, 76, 83
	c.3589C>T	R1197C	Uncertain	SUNDS	84
	c.3594G>A	M1198I	Uncertain	LVNC	85
	c.3605C>T	T1202M	GOF	Cantu syndrome	86
	c.4039 C > T	R1347C	GOF	Cantu syndrome	87
	c.4205C>G	S1402C	GOF	early repolarization syndrome	79
	c.4385C>G	A1462G	GOF	Cantu syndrome	88
	c.4537G>A	A1513T	LOF	Dilated cardiomyopathy	89
	4570–4572 delta InsAAAT	L1524fs	LOF	Dilated cardiomyopathy	89
	c.4640C>T	T1547I	LOF	Atrial fibrillation	90

Bold font: Causality implied/confirmed by functional analyses

Normal font: Association unchallenged, but lacking functional analyses

Italic font: Association challenged by additional studies