| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability, autosomal dominant 16 | |
| | | Single nucleotide variant (missense variant +1 more) | Rhabdoid tumor predisposition syndrome 2 +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Rhabdoid tumor predisposition syndrome 2 +1 more | |
Click to view in NCBI Gene