| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 1 +3 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations +1 more | |
| | | Single nucleotide variant (synonymous variant) | Spondyloepiphyseal dysplasia with congenital joint dislocations +3 more | |
| | | Single nucleotide variant (intron variant) | Larsen-like syndrome, B3GAT3 type | |
| | | Single nucleotide variant (missense variant +1 more) | Inborn genetic diseases +3 more | |
| | | Single nucleotide variant (missense variant +1 more) | Larsen-like syndrome, B3GAT3 type +1 more | |
Click to view in NCBI Gene