| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome 10 +4 more | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 10 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 10 | |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome 10 +3 more | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 10 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Duplication (frameshift variant) | Retinal dystrophy +6 more | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome 10 | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 10 +10 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene