| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS | |
| | | Single nucleotide variant (splice acceptor variant) | Bartter syndrome, type 3, with hypocalciuria | |
| | LOC106501713, CLCNKB (P124L) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (A204T) | Single nucleotide variant (missense variant) | Bartter disease type 4B +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Bartter disease type 4B +1 more | |
| | CLCNKB, LOC106501713 (A349D +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (Y432H +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (R438C +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CLCNKB, LOC106501713 (W610* +1 more) | Single nucleotide variant (nonsense) | Bartter disease type 4B +2 more | |
| | | Single nucleotide variant (splice donor variant) | BARTTER SYNDROME, TYPE 4B, WITH SENSORINEURAL DEAFNESS | |
| | | Deletion | Bartter disease type 3 | |
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