| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, and impaired language | |
| | | Single nucleotide variant (missense variant) | Predisposition to Wilm's tumor, FBXW7-related | |
| | | Single nucleotide variant (missense variant) | Developmental delay, hypotonia, and impaired language | |
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