| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | CHST14, LOC130056851 (R29G) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | CHST14, LOC130056851 (A52V) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | CHST14, LOC130056851 (M1T) | Single nucleotide variant (missense variant +1 more) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Indel (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | CHST14, LOC130056851 (L22P) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | CHST14, LOC130056851 (G35A) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | CHST14, LOC130056851 (V51M) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | CHST14, LOC130056851 (T7N) | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Duplication | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Duplication | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | CHST14, LOC130056851 (A15P) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | CHST14, LOC130056851 (P3L) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | CHST14, LOC130056851 (S53fs) | Deletion (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | CHST14, LOC130056851 (R20W) | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Cardiovascular phenotype +1 more | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (synonymous variant) | Ehlers-Danlos syndrome, musculocontractural type +1 more | |
| | CHST14, LOC130056851 (L58fs) | Deletion (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |