| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Microsatellite (splice acceptor variant) | Osteogenesis imperfecta | |
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