| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Microsatellite (inframe_deletion) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Carpal tunnel syndrome 2 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | COMP-related condition +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (intron variant) | Multiple epiphyseal dysplasia type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (inframe_deletion) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Microsatellite (inframe_deletion) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (synonymous variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more | |
| | | Single nucleotide variant (intron variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +1 more | |
| | | Single nucleotide variant (splice donor variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant | Multiple Epiphyseal Dysplasia, Dominant +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 1 +2 more | |
| | | Single nucleotide variant (intron variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Multiple epiphyseal dysplasia type 1 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Multiple epiphyseal dysplasia type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 1 +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 1 +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (intron variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome +3 more | |
| | | Single nucleotide variant (synonymous variant) | Carpal tunnel syndrome 2 +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +5 more | |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Carpal tunnel syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | Pseudoachondroplastic spondyloepiphyseal dysplasia syndrome | |
| | | Single nucleotide variant (missense variant) | not provided | |