| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Microsatellite (inframe_insertion) | TGFBR1-related condition +4 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | not provided +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Loeys-Dietz syndrome +6 more | |
| | | Single nucleotide variant (synonymous variant +1 more) | Loeys-Dietz syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | | Single nucleotide variant (intron variant) | Multiple self-healing squamous epithelioma +4 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
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