| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | CLCNKB, LOC106501713 (Q79R) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (W234R +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (nonsense) | Bartter disease type 3 +3 more | GPathogenic/Likely pathogenic |
| | CLCNKB, LOC106501713 (Y297fs +1 more) | Deletion (frameshift variant) | Bartter disease type 3 +2 more | |
| | CLCNKB, LOC106501713 (A408T +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +1 more | |
Click to view in NCBI Gene