| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intellectual disability-epilepsy-extrapyramidal syndrome | |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Intellectual disability-epilepsy-extrapyramidal syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene