| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (synonymous variant) | CHST3-related disorder +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | CHST3-related disorder | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene