| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Mandibuloacral dysplasia with type B lipodystrophy | |
| | | Duplication (frameshift variant) | Lethal tight skin contracture syndrome +4 more | |
| | | Deletion (nonsense) | Mandibuloacral dysplasia with type B lipodystrophy | |
| | | Single nucleotide variant (missense variant) | Mandibuloacral dysplasia with type B lipodystrophy +2 more | |
Click to view in NCBI Gene