| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Deletion (frameshift variant) | Spondyloepimetaphyseal dysplasia with joint laxity +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures +1 more | |
| | | Single nucleotide variant (missense variant) | Ehlers-Danlos syndrome, spondylodysplastic type, 2 +2 more | |
| | | Duplication (frameshift variant) | Spondyloepimetaphyseal dysplasia with joint laxity +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene