| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Deletion (frameshift variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 2 | |
| | | Deletion (frameshift variant +2 more) | Stickler syndrome type 2 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | COL11A1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (splice donor variant) | COL11A1-related condition +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +6 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | COL11A1-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Intervertebral disc disorder +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +5 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion +1 more) | Intervertebral disc disorder +5 more | |
| | | Single nucleotide variant (splice donor variant +1 more) | Intervertebral disc disorder +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | COL11A1-related condition +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 +4 more | |
| | | Deletion (splice acceptor variant) | Hearing loss, autosomal dominant 37 +2 more | |
| | | Deletion | Stickler syndrome type 2 +2 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |
| | | Single nucleotide variant (nonsense +2 more) | Stickler syndrome type 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | COL11A1-related condition +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 +1 more | |
| | COL11A1, LOC126805814 (E1702D +3 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | COL11A1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Stickler syndrome type 2 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Stickler syndrome type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (3 prime UTR variant +1 more) | Fibrochondrogenesis 1 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (splice donor variant) | Stickler syndrome type 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +2 more) | Stickler syndrome type 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Stickler syndrome type 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 1 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | COL11A1-related condition +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome type 2 | |