| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Spondyloepimetaphyseal dysplasia with multiple dislocations | |
| | | Deletion (inframe_deletion) | Spondyloepimetaphyseal dysplasia with multiple dislocations | |
| | | Single nucleotide variant (intron variant) | not provided | |
Click to view in NCBI Gene