| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | 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 |
| | | Single nucleotide variant (missense variant) | Hypertensive disorder +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hematuria +8 more | GConflicting classifications of pathogenicity |
| | | Duplication (inframe_insertion) | COL4A3-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease dominant intermediate E +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Renal cyst +1 more | |
| | | Single nucleotide variant (missense variant) | Hearing impairment +2 more | |
| | | Deletion | Hematuria +3 more | |
| | | Duplication (frameshift variant) | Proteinuria +1 more | |
Click to view in NCBI Gene