| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (nonsense) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
| | | Single nucleotide variant (missense variant) | Cardiovascular phenotype +2 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Ehlers-Danlos syndrome, musculocontractural type 1 | |
Click to view in NCBI Gene