| | | Single nucleotide variant (nonsense) | Achondrogenesis, type IB +3 more | |
| | | Deletion (frameshift variant) | Atelosteogenesis type II +3 more | |
| | | Deletion (frameshift variant) | Atelosteogenesis type II +3 more | |
| | | Duplication (frameshift variant) | Diastrophic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Atelosteogenesis type II +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Multiple epiphyseal dysplasia type 4 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Achondrogenesis, type IB +4 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (frameshift variant) | Sulfate transporter-related osteochondrodysplasia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | SLC26A2-related disorder +7 more | |
| | | Single nucleotide variant (nonsense) | Atelosteogenesis type II +3 more | |
| | | Microsatellite (nonsense) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | Achondrogenesis, type IB +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Sulfate transporter-related osteochondrodysplasia +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Diastrophic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Osteochondrodysplasia +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 4 +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Diastrophic dysplasia +3 more | |
| | | Deletion (frameshift variant) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Multiple epiphyseal dysplasia type 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Atelosteogenesis type II +3 more | |
| | | Deletion (frameshift variant) | Atelosteogenesis type II +3 more | |
| | | Deletion (frameshift variant) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Multiple epiphyseal dysplasia type 4 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +7 more | |
| | | Duplication (frameshift variant) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Multiple epiphyseal dysplasia type 4 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Diastrophic dysplasia +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Multiple epiphyseal dysplasia type 4 +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GPathogenic/Likely pathogenic |
| | | Deletion (nonsense) | Multiple epiphyseal dysplasia type 4 +3 more | |
| | | Deletion (frameshift variant) | Achondrogenesis, type IB +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 4 +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Atelosteogenesis type II +3 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Multiple epiphyseal dysplasia type 4 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Atelosteogenesis type II +3 more | GConflicting classifications of pathogenicity |