| | | Duplication | Loeys-Dietz syndrome 4 | |
| | | Deletion | Loeys-Dietz syndrome 4 | |
| | | Deletion | Loeys-Dietz syndrome 4 | |
| | | Deletion | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Deletion (frameshift variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (frameshift variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 4 | |
| | | Duplication (nonsense +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (stop lost +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (splice donor variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (frameshift variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (frameshift variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (frameshift variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (frameshift variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Microsatellite (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 4 | |
| | | Deletion (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (splice acceptor variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | TGFB2-related disorder +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Duplication | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Insertion (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 +1 more | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Duplication (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 4 | |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 4 | |