| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Familial juvenile hyperuricemic nephropathy type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal dominant medullary cystic kidney disease with or without hyperuricemia +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Familial juvenile hyperuricemic nephropathy type 1 | |
Click to view in NCBI Gene