| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Familial thoracic aortic aneurysm and aortic dissection +8 more | |
| | COL5A1, LOC101448202 (C1639S) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Single nucleotide variant (missense variant) | Joint hypermobility +12 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene