| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type | |
| | | Single nucleotide variant (intron variant) | Spondyloepiphyseal dysplasia, Stanescu type | |
| | | Deletion (intron variant) | Spondyloepiphyseal dysplasia, Stanescu type | |
| | | Single nucleotide variant (intron variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (intron variant) | Spondyloepiphyseal dysplasia congenita +16 more | |
| | | Deletion (intron variant) | Spondyloepiphyseal dysplasia, Stanescu type | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type +16 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Legg-Calve-Perthes disease +16 more | |
| | | Single nucleotide variant (missense variant) | Legg-Calve-Perthes disease +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Legg-Calve-Perthes disease +16 more | |
| | | Single nucleotide variant (synonymous variant) | Legg-Calve-Perthes disease +17 more | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia, Beighton type +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) | Legg-Calve-Perthes disease +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type | |
| | | Single nucleotide variant (synonymous variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | Cutis laxa, autosomal dominant 3 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type | |
| | | Single nucleotide variant (missense variant) | Avascular necrosis of femoral head, primary, 1 +15 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +19 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +18 more | |
| | | Single nucleotide variant (intron variant) | Achondrogenesis type II +17 more | |
| | | Single nucleotide variant (missense variant) | not provided +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | COL2A1-related condition +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +19 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +19 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +19 more | |
| | | Single nucleotide variant (intron variant) | Connective tissue disorder +19 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Achondrogenesis type II +14 more | |
| | | Single nucleotide variant (synonymous variant) | COL2A1-related condition +20 more | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 +14 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +14 more | GPathogenic/Likely pathogenic |