| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | GConflicting classifications of pathogenicity |
| | COL5A1, LOC101448202 (C1680R) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
Click to view in NCBI Gene