| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (stop lost) | not provided +1 more | |
| | | Microsatellite (frameshift variant) | Retinal dystrophy +2 more | |
| | | Insertion (frameshift variant) | Choroideremia | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Deletion (frameshift variant +1 more) | Choroideremia | |
Click to view in NCBI Gene