| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (intron variant) | Cone-rod dystrophy +1 more | |
| | | Duplication (frameshift variant) | PROM1-related disorder +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
Click to view in NCBI Gene