| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant) | Retinal dystrophy +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Retinal dystrophy +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant +1 more) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome +3 more | |
| | | Microsatellite (frameshift variant +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | Retinal dystrophy | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 +1 more | |
Click to view in NCBI Gene