| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +1 more) | Cone-rod dystrophy 15 | |
| | | Deletion (frameshift variant +1 more) | Cone-rod dystrophy 15 +2 more | GPathogenic/Likely pathogenic |
| | | Copy number gain | See cases | |
| | | Single nucleotide variant (nonsense) | Cone-rod dystrophy 12 | |
Click to view in NCBI Gene