| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | Retinal dystrophy +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (non-coding transcript variant +1 more) | Retinitis pigmentosa +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene