| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Microsatellite (inframe_insertion +1 more) | Cardiovascular phenotype +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Tetralogy of Fallot +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Testicular anomalies with or without congenital heart disease | |
| | | Single nucleotide variant (missense variant +1 more) | Testicular anomalies with or without congenital heart disease | |
| | | Single nucleotide variant (nonsense +1 more) | Testicular anomalies with or without congenital heart disease | |
| | | Single nucleotide variant (missense variant +1 more) | Atrioventricular septal defect 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Testicular anomalies with or without congenital heart disease +4 more | |
Click to view in NCBI Gene