| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | X-linked spondyloepimetaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | X-linked spondyloepimetaphyseal dysplasia | |
| | | Single nucleotide variant (missense variant) | Meester-Loeys syndrome | |
| | | Copy number gain | not provided | |
Click to view in NCBI Gene