| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Ehlers-Danlos syndrome, musculocontractural type 2 +1 more | |
| | | Single nucleotide variant (synonymous variant +2 more) | Ehlers-Danlos syndrome, musculocontractural type 2 | |
Click to view in NCBI Gene