| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Optic atrophy 14 | |
| | | Single nucleotide variant (splice acceptor variant +1 more) | Mandibuloacral dysplasia progeroid syndrome +1 more | |
| | | Deletion (splice donor variant) | Mandibuloacral dysplasia progeroid syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene