| | | Single nucleotide variant (missense variant) | Stickler syndrome, type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome, type 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Stickler syndrome, type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome, type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome, type 4 | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (nonsense) | Epiphyseal dysplasia, multiple, 6 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type 4 +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | not provided +2 more | |
| | | Duplication (intron variant) | Epiphyseal dysplasia, multiple, 6 +2 more | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome, type 4 +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Stickler syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type 4 +2 more | |
| | COL9A1, LOC129996692 (P384S +1 more) | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Stickler syndrome, type 4 +1 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Achondrogenesis type II +15 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Connective tissue disorder +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Epiphyseal dysplasia, multiple, 6 +4 more | |
| | | Single nucleotide variant (nonsense +1 more) | Connective tissue disorder +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | See cases | |
| | | Duplication (splice donor variant) | not provided +2 more | |