| | | Single nucleotide variant (missense variant) | Epiphyseal dysplasia, multiple, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | Epiphyseal dysplasia, multiple, 2 +2 more | |
| | | Deletion (frameshift variant) | Epiphyseal dysplasia, multiple, 2 +2 more | GPathogenic/Likely pathogenic |
| | | Microsatellite (intron variant) | not provided +3 more | |
| | | Deletion (frameshift variant) | Epiphyseal dysplasia, multiple, 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Stickler syndrome, type 5 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epiphyseal dysplasia, multiple, 2 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Epiphyseal dysplasia, multiple, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Epiphyseal dysplasia, multiple, 2 +2 more | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome, type 5 +3 more | |
| | | Single nucleotide variant (intron variant) | Stickler syndrome, type 5 +3 more | |
| | | Single nucleotide variant (missense variant) | Stickler syndrome, type 5 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice donor variant) | Stickler syndrome, type 5 | |