| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Ehlers-Danlos syndrome, classic type | |
| | LOC101448202, COL5A1 (T1631M) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type +2 more | GConflicting classifications of pathogenicity |
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