| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 74 +3 more | |
Click to view in NCBI Gene