Links from MedGen
Items: 15
| Variation | | Type (Consequence) | Condition | Classification, Review status |
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| | | Duplication | Thoracic aortic aneurysm | |
| | | Single nucleotide variant (missense variant) | Thoracic aortic aneurysm | |
| | | Single nucleotide variant (nonsense) | Thoracic aortic aneurysm | |
| | | Single nucleotide variant (missense variant +1 more) | Thoracic aortic aneurysm | |
| | | Single nucleotide variant (missense variant +1 more) | Frontal bossing +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Adams-Oliver syndrome 5 | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | |
| | | Microsatellite (inframe_deletion) | Loeys-Dietz syndrome 1 +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Familial thoracic aortic aneurysm and aortic dissection +2 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +4 more | |
| | | Single nucleotide variant (intron variant) | not specified +1 more | |
| | | Single nucleotide variant (intron variant) | Marfan syndrome +5 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | |
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