| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant) | not specified | |
| | | Microsatellite (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | 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 (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Inversion (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |
| | | Single nucleotide variant (no sequence alteration +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +2 more) | not specified +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome +4 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Duplication (frameshift variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Deletion (inframe_deletion +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | not specified | |
| | | Single nucleotide variant (missense variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Microsatellite (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, spondylocheirodysplastic type | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | GConflicting classifications of pathogenicity |