| | | Copy number gain | See cases | |
| | LOC126862582, LOC126862583 +1753 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Deletion (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Deletion (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Deletion (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Microsatellite (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Deletion (3 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Duplication (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Deletion (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, arthrochalasia type +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, arthrochalasia type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Insertion (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, arthrochalasia type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, arthrochalasia type +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, arthrochalasia type +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Insertion (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Duplication (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Duplication (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Duplication (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Duplication (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Duplication (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Duplication (3 prime UTR variant) | COL1A1-related disorder | |
| | | Duplication (3 prime UTR variant) | COL1A1-related disorder | |
| | | Duplication (3 prime UTR variant) | COL1A1-related disorder | |
| | | Duplication (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Duplication (3 prime UTR variant) | Ehlers-Danlos syndrome type 7A +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Deletion (3 prime UTR variant) | COL1A1-related disorder | |
| | | Deletion (3 prime UTR variant) | COL1A1-related disorder | |
| | | Deletion (3 prime UTR variant) | COL1A1-related disorder | |
| | | Deletion (3 prime UTR variant) | COL1A1-related disorder | |
| | | Deletion (3 prime UTR variant) | Osteogenesis Imperfecta, Dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | |
| | | Deletion (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, arthrochalasia type +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Ehlers-Danlos syndrome, arthrochalasia type +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Osteogenesis imperfecta +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Infantile cortical hyperostosis +2 more | GConflicting classifications of pathogenicity |
| | LOC130061153, COL1A1 +2 more | Duplication | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (3 prime UTR variant) | not specified | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |