| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 2 +1 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 2 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +7 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 2 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Retinitis pigmentosa 74 +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene