| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kniest dysplasia +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +16 more | |
| | | Single nucleotide variant (intron variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +16 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +16 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type +3 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (synonymous variant) | Stickler syndrome type 1 +19 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +18 more | |
| | | Single nucleotide variant (intron variant) | not provided +17 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | not provided +19 more | |
| | | Single nucleotide variant (missense variant) | not provided +19 more | |
| | | Single nucleotide variant (synonymous variant) | Type II Collagenopathies +19 more | |
| | | Single nucleotide variant (intron variant) | Type II Collagenopathies +19 more | |
| | | Single nucleotide variant (synonymous variant) | Type II Collagenopathies +19 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Namaqualand hip dysplasia +7 more | GPathogenic/Likely pathogenic |