| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Renal tubular acidosis with progressive nerve deafness | |
| | | Single nucleotide variant (nonsense) | Renal tubular acidosis with progressive nerve deafness | |
| | | Single nucleotide variant (missense variant) | Renal tubular acidosis with progressive nerve deafness | |
| | | Single nucleotide variant (missense variant) | Renal tubular acidosis with progressive nerve deafness | |
Click to view in NCBI Gene