| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL1A1, LOC126862586 (G284A) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (G281S) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (G257R) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +10 more | |
| | COL1A1, LOC126862586 (G251D) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
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