| | | Single nucleotide variant (missense variant) | Avascular necrosis of femoral head, primary, 1 | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder +1 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (inframe_insertion) | Avascular necrosis of femoral head, primary, 1 | |
| | | Single nucleotide variant (intron variant) | not provided +16 more | |
| | | Single nucleotide variant (intron variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +16 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +16 more | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +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) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +15 more | |
| | | Single nucleotide variant (synonymous variant) | Stickler syndrome type 1 +19 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +18 more | |
| | | Single nucleotide variant (intron variant) | not provided +17 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Type II Collagenopathies +15 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) | not provided +19 more | |
| | | Single nucleotide variant (synonymous variant) | Type II Collagenopathies +19 more | |
| | | Single nucleotide variant (intron variant) | Type II Collagenopathies +19 more | |
| | | Single nucleotide variant (nonsense +1 more) | not provided +14 more | |
| | | Single nucleotide variant (synonymous variant) | Type II Collagenopathies +19 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Stickler syndrome +15 more | |
| | | Single nucleotide variant (missense variant) | Avascular necrosis of femoral head, primary, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +14 more | GPathogenic/Likely pathogenic |