These variants included a de novo missense mutation in the PKD2 gene in fetuses suspected of causing polycystic kidney dysplasia; a maternally transmitted FIG4 canonical splice variant; a maternally transmitted EPG5 missense variant linked to vici syndrome; a maternally transmitted CTNNA3 canonical splice variant associated with arrhythmogenic right ventricular dysplasia; and a maternally transmitted SEC24D canonical splice variant, which may lead to Cole–Carpenter syndrome 2. This evidence concerns the gene EPG5 and Polycystic kidney dysplasia.