| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (5 prime UTR variant +3 more) | Cone-rod synaptic disorder, congenital nonprogressive +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene