| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Variation (no sequence alteration) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-danlos syndrome, arthrochalasia type, 2 +4 more | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Variation | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | COL1A2, COL1A2-AS1 (G274V) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | |
| | | Deletion (nonsense) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (splice donor variant) | Ehlers-Danlos syndrome, cardiac valvular type +5 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +9 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I +7 more | |
| | COL1A1, LOC126862586 (G260D) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta, perinatal lethal +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +9 more | |
| | | Deletion (frameshift variant) | Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 +8 more | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +9 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +5 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +8 more | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | COL1A1, LOC126862586 (E243*) | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +8 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (synonymous variant) | Infantile cortical hyperostosis +10 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +1 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III +4 more | |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta with normal sclerae, dominant form +4 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Cardiovascular phenotype +10 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-danlos syndrome, arthrochalasia type, 2 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Postmenopausal osteoporosis +8 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +10 more | |
| | | Single nucleotide variant (intron variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +10 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta, perinatal lethal +8 more | |
| | | Deletion (frameshift variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | not provided +8 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-danlos syndrome, arthrochalasia type, 2 +12 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III +9 more | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteoporosis +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteoporosis +11 more | |