| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss | |
| | | Copy number gain | not provided | |
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