| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, classic type, 1 +5 more | |
| | | Single nucleotide variant (nonsense) | Sparse and thin eyebrow +6 more | |
| | | Deletion (frameshift variant) | Cutis laxa +9 more | |
| | | Deletion (inframe_deletion) | Hyperextensible skin +4 more | |
Click to view in NCBI Gene