| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Deletion (frameshift variant) | Choroideremia +1 more | |
| | CHM, LOC129391306 (N129fs) | Deletion (frameshift variant +1 more) | Choroideremia | |
| | | Single nucleotide variant (nonsense +1 more) | Choroideremia | |
Click to view in NCBI Gene