Cardiac phenotype	Familial Y/N	Syndromic Y/N	Gene	DNA variant	P/LP
Left atrial isomerism, PAH	N	Y	DNAH11	c.5778+1G>A	P
			DNAI1	c.48+2dupT	P
Right atrial isomerism, right-sided aortic arch, AVSD, (sub)valvular PS	Y	Y	GDF1	c.681C>A, p.(Cys227*)	P
			GDF1	c.681C>A, p.(Cys227*)	P
Dextrocardia, right isomerism, univentricular heart, AVSD, TAPVR	N	Y	PKD1L1	c.2027C>T, p.(Pro676Leu)	LP
			PKD1L1	c.5728C>T, p.(Arg1910Trp)	LP
TGA, VSD	N	N	GDF1	c.681C>A, p.(Cys227*)	P
Truncus arteriosus, VSD	N	N	NKX2-6	c.455dupA, p.(Gln153Alafs*?)	P
			NKX2-6	c.455dupA, p.(Gln153Alafs*?)	P
			PLD1	c.2191A>T, p.(Arg731*)	P
			CEP290	c.133_136delCAAG, p.(Gln45Lysfs*3)	P
Truncus arteriosus, interruption of the aortic arch	N	?	GAT6	c.1417_1426del, p.(Lys473Glyfs*8)	P
Tetralogy of Fallot	N	N	FLT4	c.89C>T, p.(Pro30Leu)	LP
			GDF1	c.681C>A, p.(Cys227*)	P
PS, VSD	Y	Y	EP300	c.3739T>C, p.(Cys1247Arg)	LP
Truncus arteriosus	N	N	CRELD1	c.959delA, p.(Gln320Argfs*25)	LP
Tetralogy of Fallot	N	Y	GLI3	c.642delC, p.(Met215*)	LP
			CRELD1	c.1103T>A, p.(Leu368*)	LP
Truncus arteriosus	N	N	HAND1	c.410_411delinsA, p.(Arg137fs)	P
PS, VSD	N	N	JAG1	c.1278del, p.(Cys427fs)	P
AVSD	Y	Y	MYH11	c.4882A>C, p.(Lys1628Gln)	LP
BAV, TAAD	Y	N	GDF1	c.681C>A, p.(Cys227*)	P
BAV	N	N	FOXC2	c.1402dupG, p.(Glu468Glyfs*?)	LP
HLHS, BAV	Y	Y	PTPN11	c.1505C>T, p.(Ser502Leu)	P
HLHS	N	Y	PTPN11	c.179G>C, p.(Gly60Ala)	LP
ASD	Y	Y	ACTC1	c.904T>A, p.(Ser302Thr)	LP
HLHS, incomplete AVSD, primum septum defect, narrower AoV, hypoplasia aortic arc with COA	Y	Y	PTPN11	c.1529A>C, p.(Gln510Pro)	P
HLHS with mitral valve atresia, hypoplastic aortic arch, PDA ASD	N	N	NOTCH1	c.3177del, p.(Val1060fs)	P