| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (intron variant +1 more) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +1 more | |
| | | Single nucleotide variant (splice acceptor variant) | Achondrogenesis type II | |
| | | Deletion (frameshift variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Deletion (splice acceptor variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Kniest dysplasia +5 more | |
| | | Single nucleotide variant (intron variant) | Achondrogenesis type II +16 more | |
| | | Single nucleotide variant (intron variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | not provided +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) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Type 2 collagenopathy +3 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Achondrogenesis type II +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) | Multiple epiphyseal dysplasia, Beighton type +16 more | |
| | | Deletion (inframe_deletion) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +17 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Achondrogenesis type II +1 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Duplication (frameshift variant) | Stickler syndrome type 1 +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Legg-Calve-Perthes disease +16 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (splice donor variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +15 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +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 | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia with metatarsal shortening +18 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not specified +1 more | |
| | | Deletion (inframe_deletion) | not provided | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not specified +19 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +19 more | |
| | | Single nucleotide variant (synonymous variant) | Stickler syndrome type 1 +19 more | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 1 +19 more | |
| | | Single nucleotide variant (nonsense +1 more) | Spondyloepiphyseal dysplasia congenita +14 more | |
| | | Single nucleotide variant (synonymous variant) | Type II Collagenopathies +20 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 +14 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +4 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia, Stanescu type +14 more | GPathogenic/Likely pathogenic |