| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Retinal dystrophy +1 more | |
| | | Single nucleotide variant (intron variant) | Retinal dystrophy | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 4 +1 more | |
| | | Microsatellite (intron variant) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene