| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | CHST14, LOC130056851 (T7N) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type 1 +2 more | |
| | CHST14, LOC130056851 (A11T) | Single nucleotide variant (missense variant) | not provided | |
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