| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Abnormality of the nervous system +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene