Phenotype Chromosome locus Gene
Atrial septal defect 1 5p unknown
Atrial septal defect 2 8p23.1 GATA4
Atrial septal defect 3 14q11.2 MYH6
Atrial septal defect 4 7p14.2 TBX20
Atrial septal defect 5 15q14 ACTC1
Atrial septal defect 6 4q32.3 TLL1
Atrial septal defect 7 5q35.1 NKX2.5
Atrial septal defect 8 6q24.1 CITED2
Ventricular septal defect 1 8p23.1 GATA4
Ventricular septal defect 2 6q24.1 CITED2
Ventricular septal defect 3 5q35.1 NKX2.5
Atrioventricular septal defect 1 1p31-21 unknown
Atrioventricular septal defect 2 3p25.1 CRELD1
Atrioventricular septal defect 3 6q22.31 GJA1
Atrioventricular septal defect 4 8p23.1 GATA4
Table 3: Chromosomal loci and genes implicated in non-syndromic septal defects.