| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 50 | |
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked 50 +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (splice acceptor variant) | Intellectual disability, X-linked 50 | |
| | | Single nucleotide variant (nonsense) | Intellectual disability, X-linked 50 +1 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene