| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Osteopetrosis with renal tubular acidosis | |
| | | Indel (frameshift variant) | Osteopetrosis with renal tubular acidosis +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene