Links from PubMed
Items: 11
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Marfan syndrome +9 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Congenital contractural arachnodactyly +4 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +1 more | GPathogenic/Likely pathogenic |
| | MYH11, NDE1 (R1542Q +1 more) | Single nucleotide variant (missense variant +1 more) | not specified +5 more | |
| | | Single nucleotide variant (nonsense) | Marfan syndrome | |
| | | Single nucleotide variant (missense variant) | Loeys-Dietz syndrome 2 +8 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GPathogenic/Likely pathogenic |
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