| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Indel (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +2 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 6 +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | |
Click to view in NCBI Gene