| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL1A1, LOC126862586 (G275D) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | COL1A1, LOC126862586 (G272C) | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis +1 more | |
| | COL1A1, LOC126862586 (G263R) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | COL1A1, LOC126862586 (G254E) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III | |
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