| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dermatosparaxis type | |
| | | Insertion (inframe_insertion) | Ehlers-Danlos syndrome, dermatosparaxis type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dermatosparaxis type | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene