| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | Retinal dystrophy +3 more | |
| | | Duplication (frameshift variant) | Retinal dystrophy | |
| | | Duplication (frameshift variant) | Bardet-Biedl syndrome | |
| | | Microsatellite (inframe_deletion) | Bardet-Biedl syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 10 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 10 +3 more | |
| | | Duplication (frameshift variant) | Inborn genetic diseases +5 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 10 +9 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene