| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | CEP290-related disorder +14 more | |
| | | Single nucleotide variant (splice acceptor variant) | Bardet-Biedl syndrome 14 +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease +3 more | |
| | | Single nucleotide variant (missense variant) | Narrow chest +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease +12 more | |
Click to view in NCBI Gene