| | LOC129933244, LOC129933245 +653 more | Copy number gain | See cases | |
| | LOC126806103, LOC126806104 +1047 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933186, LOC129933187 +736 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | LOC129933311, LOC129933312 +1631 more | Copy number gain | See cases | |
| | LINC01115, LINC01121 +1400 more | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | LINC00954, LOC105373461 +8 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Short-rib thoracic dysplasia 7 with or without polydactyly +5 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Short rib-polydactyly syndrome +4 more | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (3 prime UTR variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +5 more | |
| | | Microsatellite (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Deletion (splice donor variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided +3 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication | Multiple epiphyseal dysplasia type 5 | |
| | | Duplication (splice acceptor variant +1 more) | Multiple epiphyseal dysplasia type 5 | |
| | | Deletion (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | MATN3-related disorder +1 more | |
| | | Single nucleotide variant (missense variant) | Multiple epiphyseal dysplasia type 5 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Multiple epiphyseal dysplasia type 5 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | MATN3-related disorder | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | Connective tissue disorder | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (synonymous variant) | Connective tissue disorder +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |
| | | Microsatellite (intron variant) | not provided | |