| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability, X-linked syndromic, Turner type +3 more | GPathogenic/Likely pathogenic |
| | HUWE1, LOC126863263 (A1238T) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene