| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Bartter disease type 4A +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hearing loss, autosomal recessive +2 more | |
| | | Deletion (frameshift variant) | Bartter disease type 4A +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene