| | | Single nucleotide variant (missense variant +1 more) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant +1 more) | Atrial septal defect 2 | |
| | | Microsatellite (inframe_insertion +1 more) | Testicular anomalies with or without congenital heart disease +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Male infertility with azoospermia or oligozoospermia due to single gene mutation +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Testicular anomalies with or without congenital heart disease | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Ventricular septal defect 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Atrial septal defect 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Transposition of the great arteries | |
| | | Single nucleotide variant (missense variant) | GATA4-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 4 | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Male infertility with azoospermia or oligozoospermia due to single gene mutation +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Atrial septal defect 2 | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 4 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 4 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect 4 +1 more | |