| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Drooling +6 more | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
| | | Single nucleotide variant (missense variant) | Alpha thalassemia-X-linked intellectual disability syndrome | |
Click to view in NCBI Gene