Links from MedGen
Items: 5
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant | Nephropathy, chronic tubulointerstitial +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypokalemia +3 more | |
| | | Single nucleotide variant | Juvenile myopathy, encephalopathy, lactic acidosis AND stroke +3 more | |
| | | Single nucleotide variant (missense variant) | Hypokalemia +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | SLC12A3-related condition +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene