| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +1 more | |
| | | Duplication (frameshift variant) | not provided | |
| | | Single nucleotide variant (intron variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | COL5A1, LOC101448202 (R1584W) | Single nucleotide variant (missense variant) | COL5A1-related condition +2 more | GConflicting classifications of pathogenicity |
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