| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Intellectual disability | |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Tatton-Brown-Rahman overgrowth syndrome +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene