| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | Bardet-Biedl syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Bardet-Biedl syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | BBS1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinal dystrophy +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +4 more | |
Click to view in NCBI Gene