| | CLCNKB, LOC106501713 (E273K +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (A70D) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (S174fs +1 more) | Deletion (frameshift variant) | Bartter disease type 3 | |
| | | Deletion | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (V207fs) | Deletion (frameshift variant) | Bartter disease type 3 | |
| | | Single nucleotide variant (intron variant) | Bartter disease type 3 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | CLCNKB, LOC106501713 (Q216R +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bartter disease type 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bartter disease type 3 +2 more | |
| | CLCNKB, LOC106501713 (A77V) | Single nucleotide variant (missense variant) | Bartter disease type 4B +2 more | |
| | CLCNKB, LOC106501713 (R375C +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CLCNKB, LOC106501713 (I525T +1 more) | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | CLCNKB, LOC106501713 (R369C +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +2 more | |
| | | Single nucleotide variant (missense variant) | Bartter disease type 4B +2 more | |
| | CLCNKB, LOC106501713 (M249I +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +2 more | |
| | CLCNKB, LOC106501713 (Y99H) | Single nucleotide variant (missense variant) | Bartter disease type 3 +2 more | |
| | CLCNKB, LOC106501713 (A319D +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +3 more | |
| | CLCNKB, LOC106501713 (A177S) | Single nucleotide variant (missense variant) | Bartter disease type 3 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bartter disease type 4B +2 more | GConflicting classifications of pathogenicity |
| | CLCNKB, LOC106501713 (G301W +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (S218R) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (V170M) | Single nucleotide variant (missense variant) | Bartter disease type 4B +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Deletion (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Copy number loss | Bartter disease type 3 +1 more | |
| | CLCNKB, LOC106501713 (R92W) | Single nucleotide variant (missense variant) | Bartter disease type 3 +1 more | |
| | | Single nucleotide variant (intron variant) | Bartter disease type 4B +2 more | |
| | LOC106501713, CLCNKB (A167T +1 more) | Single nucleotide variant (missense variant) | not provided | |
| | CLCNKB, LOC106501713 (R76*) | Single nucleotide variant (nonsense) | not provided +3 more | |
| | | Deletion | Bartter disease type 3 | |
| | LOC106501713, CLCNKB (G255R +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | CLCNKB, LOC106501713 (A408T +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +1 more | |
| | CLCNKB, LOC106501713 (Y297fs +1 more) | Deletion (frameshift variant) | Bartter disease type 3 +2 more | |
| | CLCNKB, LOC106501713 (Q79R) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | | Copy number loss | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (E442G +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | LOC106501713, CLCNKB (Y351* +1 more) | Single nucleotide variant (nonsense) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (A467V +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (G268R +1 more) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | CLCNKB, LOC106501713 (R135* +1 more) | Single nucleotide variant (nonsense) | Bartter disease type 3 +3 more | GPathogenic/Likely pathogenic |
| | CLCNKB, LOC106501713 (Y67* +1 more) | Single nucleotide variant (nonsense) | Bartter disease type 3 +2 more | |
| | CLCNKB, LOC106501713 (E225* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | CLCNKB, LOC106501713 (V524I +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | CLCNKB, LOC106501713 (A214G) | Indel (missense variant) | not provided +2 more | |
| | CLCNKB, LOC106501713 (S265C +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bartter disease type 3 +2 more | |
| | CLCNKB, LOC106501713 (V104I) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bartter disease type 4B +2 more | |
| | | Single nucleotide variant (intron variant) | Bartter disease type 4B +2 more | |
| | | Single nucleotide variant (synonymous variant) | Bartter disease type 4B +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Bartter disease type 4B +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Familial hypocalciuric hypercalcemia +1 more | |
| | CLCNKB, LOC106501713 (G324fs +1 more) | Deletion (frameshift variant) | Bartter disease type 3 | |
| | CLCNKB, LOC106501713 (R40fs) | Deletion (frameshift variant +1 more) | Bartter disease type 3 | GConflicting classifications of pathogenicity |
| | CLCNKB, LOC106501713 (A206S) | Single nucleotide variant (missense variant) | Bartter disease type 4B +1 more | |
| | | Single nucleotide variant (nonsense) | Sensorineural hearing loss disorder +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Bartter disease type 3 +2 more | |
| | CLCNKB, LOC106501713 (N459H +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +3 more | |
| | | Duplication (nonsense) | Bartter disease type 3 +3 more | GPathogenic/Likely pathogenic |
| | CLCNKB, LOC106501713 (W234R +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +3 more | GConflicting classifications of pathogenicity |
| | CLCNKB, LOC106501713 (A214G) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | CLCNKB, LOC106501713 (A287V +1 more) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | CLCNKB, LOC106501713 (R595* +1 more) | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | CLCNKB, LOC106501713 (K578E +1 more) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | CLCNKB, LOC106501713 (M562T +1 more) | Single nucleotide variant (missense variant) | not provided +3 more | |
| | CLCNKB, LOC106501713 (A504V +1 more) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | CLCNKB, LOC106501713 (I292fs +1 more) | Duplication (frameshift variant) | Bartter disease type 3 | |
| | LOC106501713, CLCNKB (E565fs +1 more) | Deletion (frameshift variant) | Bartter disease type 3 +2 more | |
| | | Deletion (nonsense) | Bartter disease type 3 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Bartter disease type 3 +1 more | |
| | CLCNKB, LOC106501713 (V668L +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +1 more | |
| | CLCNKB, LOC106501713 (F648L +1 more) | Single nucleotide variant (missense variant) | Bartter disease type 3 +1 more | |
| | CLCNKB, LOC106501713 (W610* +1 more) | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Bartter disease type 3 +1 more | |