| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | Autosomal dominant polycystic kidney disease +1 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 3 with or without polycystic liver disease +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene