| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Deletion (nonsense) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 | |
| | | Deletion (splice acceptor variant) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Duplication (frameshift variant) | Stickler syndrome type 1 | |
| | | Deletion (splice donor variant) | Stickler syndrome type 1 | |
| | | Indel (intron variant) | Stickler syndrome type 1 | |
| | | Deletion (inframe_deletion) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | Stickler syndrome type 1 | |
| | | Deletion (splice donor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Deletion (inframe_deletion) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita +1 more | GConflicting classifications of pathogenicity |
| | | 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 |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Achondrogenesis type II +16 more | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Spondyloepiphyseal dysplasia congenita +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +16 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Duplication (intron variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 1 | |
| | | Duplication (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (nonsense) | COL2A1-related disorder +2 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Deletion (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 | |
| | | Microsatellite (inframe_deletion) | not provided | |
| | | Deletion (splice acceptor variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Stickler syndrome type 1 | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | |
| | | 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 (splice donor variant) | Stickler syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +1 more | GConflicting classifications of pathogenicity |
| | | 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) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Stickler syndrome type 1 +1 more | GPathogenic/Likely pathogenic |
| | | Deletion (splice donor variant) | Stickler syndrome type 1 | |
| | | Duplication (frameshift variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +16 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Stickler syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Stickler syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Type II Collagenopathies +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Stickler syndrome type 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Stickler syndrome type 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Type II Collagenopathies +1 more | |
| | | Single nucleotide variant (intron variant) | Type II Collagenopathies +1 more | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Type II Collagenopathies +1 more | |
| | | Single nucleotide variant (synonymous variant) | Type II Collagenopathies +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Type II Collagenopathies +2 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome type 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Type II Collagenopathies +1 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | GConflicting classifications of pathogenicity |