| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +1 more) | not provided +4 more | |
| | | Duplication (frameshift variant +1 more) | not provided +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, moderate +6 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene