As listed in Figure 5, to date, at least 23 pathogenic missense, nonsense, and frameshift variants in SOX4 have been reported to cause CSS globally (encompassing one nonsense SOX4 variant identified in the present study), of which 10 pathogenic SOX4 variants have been linked to various cardiovascular developmental abnormalities, including VSD, ASD, double aortic arch, abnormal pulmonary valve, anomalous coronary artery, and aortic aneurism [51,54,75,76,77]. This evidence concerns the gene SOX4 and ventricular septal defect.