| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126859690, PKHD1 (G1746S) | Single nucleotide variant (missense variant) | Polycystic kidney disease 4 +2 more | |
| | LOC126859690, PKHD1 (G1712R) | Single nucleotide variant (missense variant) | Autosomal recessive polycystic kidney disease +2 more | GConflicting classifications of pathogenicity |
| | LOC126859690, PKHD1 (L1709F) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
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