| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 7 +3 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | MYLK-related condition +5 more | GConflicting classifications of pathogenicity |
| | FBN1, LOC126862124 (P1424A) | Single nucleotide variant (missense variant) | Marfan syndrome +12 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome | |
| | MYH11, NDE1 (A1733T +1 more) | Single nucleotide variant (missense variant +1 more) | not provided +2 more | GConflicting classifications of pathogenicity |
| | MYH11, NDE1 (K1473Q +1 more) | Single nucleotide variant (missense variant +1 more) | Aortic aneurysm, familial thoracic 4 +1 more | |
| | | Single nucleotide variant (missense variant) | Congenital aneurysm of ascending aorta | |
| | | Single nucleotide variant (missense variant) | Aortic aneurysm, familial thoracic 4 +7 more | GConflicting classifications of pathogenicity |
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