| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC126862361, SLC12A3 (G989R +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | LOC126862361, SLC12A3 (C994Y +2 more) | Single nucleotide variant (missense variant) | Familial hypokalemia-hypomagnesemia +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene