| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | PKHD1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease 4 +1 more | |
| | | Single nucleotide variant (missense variant) | See cases +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene