| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa 74 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 2 +2 more | |
| | | Deletion (frameshift variant +1 more) | Bardet-Biedl syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Retinitis pigmentosa 74 +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 2 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 2 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Bardet-Biedl syndrome 2 +3 more | |
Click to view in NCBI Gene