| | | Duplication | Loeys-Dietz syndrome 2 | |
| | | Indel (inframe_indel) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Deletion (splice donor variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 +1 more | GUncertain significance/Uncertain risk allele |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (3 prime UTR variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Duplication (inframe_insertion +2 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +2 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (nonsense +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Microsatellite (frameshift variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +2 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more (T74I) | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | LOC130008520, TMPO +1 more | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (non-coding transcript variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Indel (missense variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome 2 +1 more | |
| | | Single nucleotide variant (intron variant +1 more) | Loeys-Dietz syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome 2 | |