| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (3 prime UTR variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (intron variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 1 | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome 1 | |
Click to view in NCBI Gene