| | | Deletion (frameshift variant) | Platyspondylic dysplasia, Torrance type | |
| | | Deletion (frameshift variant) | Stickler syndrome, type I, nonsyndromic ocular | |
| | | Single nucleotide variant (missense variant) | Spondyloperipheral dysplasia +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Spondyloperipheral dysplasia | |
| | | Duplication (frameshift variant) | Spondyloperipheral dysplasia | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Vitreoretinopathy with phalangeal epiphyseal dysplasia | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome, type I, nonsyndromic ocular | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice acceptor variant +1 more) | Spondyloepiphyseal dysplasia congenita | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type +7 more | GPathogenic/Likely pathogenic |
| | | Duplication (inframe_insertion) | Spondyloepiphyseal dysplasia congenita | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Hypochondrogenesis | |
| | | Single nucleotide variant (missense variant) | Hypochondrogenesis | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +14 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Hypochondrogenesis | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Avascular necrosis of femoral head, primary, 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type I, nonsyndromic ocular | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 +14 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type I, nonsyndromic ocular +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (intron variant) | Kniest dysplasia | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Deletion (splice donor variant) | Kniest dysplasia | |
| | | Single nucleotide variant (splice acceptor variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia, Strudwick type | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Acetabular dysplasia +4 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type I, nonsyndromic ocular | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | COL2A1-related condition +2 more | |
| | | Microsatellite (nonsense +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome, type I, nonsyndromic ocular | |
| | | Single nucleotide variant (nonsense +1 more) | Stickler syndrome, type I, nonsyndromic ocular | |