| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 4 +3 more | GConflicting classifications of pathogenicity |
| | | Indel | Polycystic kidney disease 4 +3 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive polycystic kidney disease | |
| | | Single nucleotide variant (missense variant) | PKHD1-related condition +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene