| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL5A1, LOC101448202 (P1536L) | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +14 more | GPathogenic/Likely pathogenic |
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