| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Autosomal dominant osteopetrosis 2 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 4 | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive osteopetrosis 4 | |
Click to view in NCBI Gene