| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type 7 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 7 | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type 7 | |
| | | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta type 7 | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene