| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 1 +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome progeroid type +3 more | |
Click to view in NCBI Gene