| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Dent disease type 1 +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Hypophosphatemic rickets, X-linked recessive +1 more | GConflicting classifications of pathogenicity |
| | CLCN5, LOC126863258 (R554fs +2 more) | Duplication (frameshift variant) | Dent disease type 1 | |
Click to view in NCBI Gene