These include CTBP2 p.Arg719His in familial BAV/VSD, MATR3 p.Glu210Val in familial AVS/BAV, MYH6 p.Phe245Pro in familial COA, and NOTCH1 p.Val999Met Variant in a family with BAV, AVS and HLHS, and ROBO4 p.Val363Leu in familial BAV. The gene discussed is MYH6; the disease is ventricular septal defect.