| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Rhabdoid tumor predisposition syndrome 2 | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Autistic behavior +1 more | |
| | | Single nucleotide variant (missense variant +1 more) | Global developmental delay | |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Rhabdoid tumor predisposition syndrome 2 +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Rhabdoid tumor predisposition syndrome 2 | |
| | | 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 | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
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