| 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 |
