| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (missense variant) | X-linked intellectual disability with marfanoid habitus +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | X-linked intellectual disability with marfanoid habitus +4 more | |
| | | Single nucleotide variant (intron variant) | FG syndrome 1 +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | FG syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +7 more | |
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | | Single nucleotide variant (synonymous variant) | Familial thoracic aortic aneurysm and aortic dissection +6 more | |
| | | Single nucleotide variant (missense variant) | FG syndrome 1 +4 more | |
| | | Single nucleotide variant (missense variant) | MED12-related disorder +6 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (inframe_deletion) | FG syndrome +5 more | |
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