| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Epidermolysis bullosa pruriginosa +4 more | |
| | | Single nucleotide variant (nonsense) | Epidermolysis bullosa pruriginosa +16 more | |
| | | Single nucleotide variant (missense variant) | Atrioventricular septal defect and common atrioventricular junction +7 more | |
| | | Single nucleotide variant (nonsense) | Finger syndactyly +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene