| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant +1 more) | Polycystic kidney disease +3 more | |
| | | Microsatellite (inframe_deletion) | Polycystic kidney disease +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Polycystic kidney disease +1 more | |
| | | Microsatellite (frameshift variant) | Bardet-Biedl syndrome +3 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene