| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 3 with or without polycystic liver disease | |
| | | Deletion (frameshift variant) | Polycystic kidney disease 3 with or without polycystic liver disease | |
| | | Microsatellite (5 prime UTR variant +2 more) | GANAB-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 3 with or without polycystic liver disease +2 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene