| | | Single nucleotide variant (synonymous variant) | COL2A1-related disorder +17 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +19 more | |
| | | Single nucleotide variant (synonymous variant) | Legg-Calve-Perthes disease +16 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +16 more | |
| | | Single nucleotide variant (intron variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia, Beighton type +16 more | |
| | | Deletion (frameshift variant) | Legg-Calve-Perthes disease +16 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Spondyloepiphyseal dysplasia congenita +16 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +20 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +18 more | |
| | | Single nucleotide variant (intron variant) | not provided +19 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +19 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Legg-Calve-Perthes disease +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia, Beighton type +19 more | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 1 +19 more | |
| | | Single nucleotide variant (missense variant) | Vitreoretinopathy with phalangeal epiphyseal dysplasia +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Achondrogenesis type II +17 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +16 more | |