| | | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC129935164, LOC129935165 +697 more | Copy number loss | See cases | |
| | | Copy number loss | See cases | |
| | LOC126806416, LOC126806417 +591 more | Copy number loss | See cases | |
| | | 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 | |
| | LOC129935343, LOC129935344 +1703 more | Copy number gain | See cases | |
| | | Copy number loss | See cases | |
| | | Single nucleotide variant | not provided | |
| | | Single nucleotide variant | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Duplication | Ehlers-Danlos syndrome, type 4 | |
| | MIR1245A, LOC129935240 +11 more | Deletion | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Ehlers-Danlos syndrome, type 4 | |
| | | Deletion (nonsense) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | not specified | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Duplication (splice donor variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | COL3A1, LOC126806446 +1 more | Deletion (splice acceptor variant +1 more) | Megacolon | |
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Duplication (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) | Ehlers-Danlos syndrome, type 4 | |
| | | Duplication (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | not provided +2 more | |
| | | Deletion (intron variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Deletion (intron variant) | not specified | |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Deletion (inframe_deletion) | Ehlers-Danlos syndrome, type 4 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, type 4 +4 more | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, type 4 | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, type 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |