| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862361, SLC12A3 (L977S +2 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | 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 |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | LOC126862361, SLC12A3 (S997L +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126862361, SLC12A3 (R1009* +2 more) | Single nucleotide variant (nonsense) | Familial hypokalemia-hypomagnesemia +1 more | |
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