| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 2 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 74 +5 more | |
Click to view in NCBI Gene