| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy 2 +2 more | |
| | | Deletion (frameshift variant) | Benign concentric annular macular dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Cone-rod dystrophy 2 +2 more | |
| | | | Cobalamin C disease +1 more | |
Click to view in NCBI Gene