| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Indel (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Microsatellite (inframe_deletion) | not provided +4 more | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type I +2 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta +1 more | |
Click to view in NCBI Gene