| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +7 more | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COL1A1-related disorder +9 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
Click to view in NCBI Gene