| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Dalmatian hypouricemia +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial renal hypouricemia +2 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene