| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I +3 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | COL1A1, LOC126862586 (G302R) | Single nucleotide variant (missense variant) | COL1A1-related condition | |
| | | Deletion (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (N295K) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (P249H) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (Q300H) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (E309*) | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (A297T) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (R244H) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Deletion (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (E234*) | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (H267fs) | Duplication (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Insertion (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (G242fs) | Deletion (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta, perinatal lethal | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta with normal sclerae, dominant form | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (G254*) | Single nucleotide variant (nonsense) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III | |
| | COL1A1, LOC126862586 (G245E) | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type III | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I | |
| | | Deletion (splice acceptor variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (splice donor variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (P241fs) | Deletion (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Deletion (splice donor variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (G296R) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Deletion (inframe_deletion) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (G284D) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (P256S) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (E294*) | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (G257*) | Single nucleotide variant (nonsense) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (G269D) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (R244C) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (P241S) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta type I | |
| | COL1A1, LOC126862586 (R244S) | Single nucleotide variant (missense variant) | not provided | |
| | LOC126862586, COL1A1 (G269A) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I +1 more | |
| | | Single nucleotide variant (synonymous variant) | Osteogenesis imperfecta type I +1 more | |
| | COL1A1, LOC126862586 (T258R) | Single nucleotide variant (missense variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype | |
| | COL1A1, LOC126862586 (E288D) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome | |
| | COL1A1, LOC126862586 (A280D) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | LOC126862586, COL1A1 (L306fs) | Deletion (frameshift variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (splice acceptor variant) | Osteogenesis imperfecta | |
| | | Deletion | Osteogenesis imperfecta | |
| | COL1A1, LOC126862586 (R240H) | Single nucleotide variant (missense variant) | not provided | |
| | COL1A1, LOC126862586 (N295S) | Single nucleotide variant (missense variant) | not specified | |
| | COL1A1, LOC126862586 (G296V) | Single nucleotide variant (missense variant) | Infantile cortical hyperostosis | |
| | | Single nucleotide variant | Osteogenesis imperfecta type I +1 more | GConflicting classifications of pathogenicity |