| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dermatosparaxis type | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dermatosparaxis type | |
| | | Deletion (frameshift variant) | Ehlers-Danlos syndrome, dermatosparaxis type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, dermatosparaxis type | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (nonsense) | not provided +1 more | |
Click to view in NCBI Gene