| | | Single nucleotide variant (missense variant +1 more) | Osteogenesis imperfecta +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Childhood hypophosphatasia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Childhood hypophosphatasia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Adult hypophosphatasia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile hypophosphatasia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile hypophosphatasia +8 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Adult hypophosphatasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hypophosphatasia +6 more | |
| | | Microsatellite (inframe_deletion) | Osteogenesis imperfecta +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Infantile hypophosphatasia +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Adult hypophosphatasia +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +9 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (nonsense) | Abnormality of the skeletal system +10 more | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type I +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Osteogenesis imperfecta type I | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | COL1A1, LOC126862586 (G296A) | Single nucleotide variant (missense variant) | Osteogenesis imperfecta | |
| | COL1A1, LOC126862586 (H267fs) | Microsatellite (frameshift variant) | Osteogenesis imperfecta | |