TBX5 and familial atrioventricular septal defect: The variant of TBX2 (c.2139dupG) was found in a patient with TOF and AVSD; variant TBX5 (c.409G>T, p.V137L) was found in a TOF patient with PDA and PFO; and the CITED2 (c.-1AT) variant was found in a patient with TOF and PAA (Table 2).