| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (splice donor variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal +5 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene