| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial expansile osteolysis +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autosomal recessive osteopetrosis 7 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Familial expansile osteolysis | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Familial expansile osteolysis +2 more | |
Click to view in NCBI Gene