| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | ATP6V1B1, ATP6V1B1-AS1 (S46fs) | Deletion (frameshift variant) | Renal tubular acidosis with progressive nerve deafness | |
| | ATP6V1B1, ATP6V1B1-AS1 (K58Q) | Single nucleotide variant (missense variant) | Renal tubular acidosis with progressive nerve deafness +1 more | |
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