| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant +1 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Bardet-Biedl syndrome 4 | |
| | | Deletion (frameshift variant +2 more) | Bardet-Biedl syndrome | |
| | | Single nucleotide variant (nonsense +1 more) | Bardet-Biedl syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Deletion | Bardet-Biedl syndrome | |
Click to view in NCBI Gene