| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Retinitis pigmentosa +3 more | |
| | | Single nucleotide variant (intron variant) | Bardet-Biedl syndrome 1 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Bardet-Biedl syndrome 3 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Bardet-Biedl syndrome 3 +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Retinitis pigmentosa 55 +5 more | |
Click to view in NCBI Gene