| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| | | Duplication (frameshift variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 53 +5 more | |
| | | Single nucleotide variant (missense variant) | Fibrochondrogenesis 2 +5 more | |
| | | Deletion (frameshift variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal recessive +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 13 +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 53 +5 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (synonymous variant) | Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (synonymous variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +4 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (intron variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Otospondylomegaepiphyseal dysplasia, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (3 prime UTR variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (synonymous variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +2 more | |
| | | Single nucleotide variant (intron variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| | | Single nucleotide variant (nonsense) | Otospondylomegaepiphyseal dysplasia, autosomal dominant | |
| | | Single nucleotide variant (synonymous variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (intron variant) | Autosomal dominant nonsyndromic hearing loss 13 +5 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 53 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Fibrochondrogenesis 2 +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Fibrochondrogenesis 2 +4 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant +1 more) | Ear malformation +7 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | COL11A2-related disorder +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (nonsense) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (genic upstream transcript variant) | Fibrochondrogenesis 1 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Stickler Syndrome, Dominant +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Stickler Syndrome, Dominant +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Stickler Syndrome, Dominant +4 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Otospondylomegaepiphyseal dysplasia, autosomal recessive +3 more | |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Stickler Syndrome, Dominant +4 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +3 more | |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Stickler Syndrome, Dominant +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Connective tissue disorder +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | |
| | | Single nucleotide variant (intron variant) | Fibrochondrogenesis 2 +6 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Stickler Syndrome, Dominant +4 more | |