| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-danlos syndrome, arthrochalasia type, 2 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +4 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene