| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | LOC126859690, PKHD1 (R1624W) | Single nucleotide variant (missense variant) | Autosomal recessive polycystic kidney disease +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 4 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Polycystic kidney disease 4 +3 more | |
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