| | | Single nucleotide variant (missense variant) | Bruck syndrome 1 | |
| | | Single nucleotide variant (nonsense) | Bruck syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Bruck syndrome 1 | |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Osteogenesis imperfecta type 11 +2 more | |
| | | Duplication (nonsense) | Bruck syndrome 1 | |
| | | Duplication (frameshift variant) | Abnormality of the skeletal system +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Duplication (intron variant) | Osteogenesis Imperfecta, Recessive +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Primary hyperoxaluria, type II +3 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Bruck syndrome 1 +1 more | |
| | | Duplication (frameshift variant) | Osteogenesis imperfecta type 11 | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Duplication (frameshift variant) | FKBP10-related disorder | |