| | | Single nucleotide variant (missense variant) | Stickler Syndrome, Dominant +8 more | |
| | | Single nucleotide variant (synonymous variant) | Autosomal recessive nonsyndromic hearing loss 53 +5 more | |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 53 +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal dominant nonsyndromic hearing loss 13 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 53 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Autosomal recessive nonsyndromic hearing loss 53 +5 more | |
| | | Single nucleotide variant (missense variant) | Otospondylomegaepiphyseal dysplasia, autosomal dominant +5 more | |
| | | Single nucleotide variant (missense variant) | Fibrochondrogenesis 2 +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Autosomal recessive nonsyndromic hearing loss 53 +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |