| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CLCNKB, LOC106501713 (E442G +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +1 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Bartter disease type 3 | |
Click to view in NCBI Gene