| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 4 | |
| | | Deletion (frameshift variant) | Polycystic kidney disease 4 | |
| | | Single nucleotide variant (nonsense) | Autosomal recessive polycystic kidney disease +4 more | GPathogenic/Likely pathogenic |
| | LOC126859690, PKHD1 (R1624W) | Single nucleotide variant (missense variant) | Abnormal intrahepatic bile duct morphology +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease 4 | |
| | | Single nucleotide variant (nonsense) | Polycystic kidney disease 4 +4 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Noonan syndrome-like disorder with loose anagen hair 1 | |
Click to view in NCBI Gene