| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (splice acceptor variant +1 more) | Autosomal recessive distal renal tubular acidosis | |
| | | Single nucleotide variant (nonsense) | Renal tubular acidosis, distal, 3, with or without sensorineural hearing loss +2 more | |
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