| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +3 more | GConflicting classifications of pathogenicity |
| | | Deletion | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Familial thoracic aortic aneurysm and aortic dissection | |
| | COL5A1, LOC101448202 (K1691fs) | Indel (frameshift variant +1 more) | Ehlers-Danlos syndrome, classic type, 1 | |
| | COL5A1, LOC101448202 (D1771N) | Single nucleotide variant (missense variant) | COL5A1-related condition +2 more | GConflicting classifications of pathogenicity |
| | | Copy number loss | Ehlers-Danlos syndrome, classic type | |
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