| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CHST14, LOC130056851 (T7N) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type 1 +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
Click to view in NCBI Gene