| | LOC126859908, THBS2 +1 more (C819R +2 more) | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome | |
| | | Deletion (splice acceptor variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Menkes kinky-hair syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Vesicoureteral reflux 8 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | LOC106780803, TNXB (L4054P +2 more) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | LOC106780803, TNXB (A290T +2 more) | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | not provided +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Duplication (inframe_insertion +1 more) | Ehlers-Danlos syndrome | |
| | LOC106780803, TNXB (P3540fs +1 more) | Microsatellite (frameshift variant +1 more) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome | |
| | | Deletion (frameshift variant +1 more) | Ehlers-Danlos syndrome | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (synonymous variant +1 more) | Ehlers-Danlos syndrome | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, spondylocheirodysplastic type +1 more | |