| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | MAK-related disorder +1 more | |
| | | Single nucleotide variant (intron variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +2 more) | Retinitis pigmentosa 62 +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene