| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive polycystic kidney disease +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Polycystic kidney disease 4 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | LOC126859690, PKHD1 (V1741M) | Single nucleotide variant (missense variant) | Autosomal recessive polycystic kidney disease +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Autosomal recessive polycystic kidney disease +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease 4 +2 more | |
| | | Duplication (frameshift variant) | Autosomal recessive polycystic kidney disease | |
| | | Single nucleotide variant (missense variant) | PKHD1-related disorder +8 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene