| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | COL5A1, LOC101448202 (R1637C) | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | COL5A1, LOC101448202 (Q1643R) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | COL5A1, LOC101448202 (H1739Q) | Single nucleotide variant (missense variant) | Marfan syndrome +2 more | GConflicting classifications of pathogenicity |
| | COL5A1, LOC101448202 (A1784T) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene