| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CLCN5, LOC126863258 (G512D +2 more) | Single nucleotide variant (missense variant) | Dent disease type 1 | |
| | CLCN5, LOC126863258 (Y617* +2 more) | Duplication (nonsense) | Proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis | |
Click to view in NCBI Gene