| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (splice donor variant) | Global developmental delay +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Inborn genetic diseases +7 more | |
| | | Single nucleotide variant (intron variant) | Intellectual disability, X-linked 19 | |
| | | Single nucleotide variant (missense variant) | Abnormality of the lower limb +13 more | |
| | | Duplication (intron variant) | Intellectual disability, X-linked 19 | |
Click to view in NCBI Gene