| | | Single nucleotide variant (missense variant) | Platyspondylic dysplasia, Torrance type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Kniest dysplasia +5 more | |
| | | Single nucleotide variant (intron variant) | Spondyloepiphyseal dysplasia congenita +16 more | |
| | | Single nucleotide variant (intron variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | Legg-Calve-Perthes disease +16 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Legg-Calve-Perthes disease +16 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +17 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +16 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (missense variant) | COL2A1-related condition +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +15 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +19 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +18 more | |
| | | Single nucleotide variant (intron variant) | Achondrogenesis type II +17 more | |
| | | Single nucleotide variant (missense variant) | Czech dysplasia, metatarsal type +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +19 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia, Beighton type +19 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia, Beighton type +19 more | |
| | | Single nucleotide variant (intron variant) | Multiple epiphyseal dysplasia, Beighton type +19 more | |
| | | Single nucleotide variant (nonsense +1 more) | Legg-Calve-Perthes disease +14 more | |
| | | Single nucleotide variant (synonymous variant) | Connective tissue disorder +20 more | |
| | | Single nucleotide variant (missense variant) | Platyspondylic dysplasia, Torrance type | |
| | | Single nucleotide variant (nonsense) | Spondyloepiphyseal dysplasia, Stanescu type +14 more | |
| | | Deletion (frameshift variant) | Platyspondylic dysplasia, Torrance type | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type I, nonsyndromic ocular +14 more | GPathogenic/Likely pathogenic |