| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (synonymous variant) | COL1A1-related osteogenesis imperfecta +3 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene