| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +18 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Sotos syndrome +19 more | |
| | | Single nucleotide variant (missense variant) | Inborn genetic diseases +20 more | GPathogenic/Likely pathogenic |
| | | Duplication (frameshift variant) | Cryptorchidism +17 more | |
| | | Single nucleotide variant (missense variant) | Immunodeficiency, common variable, 2 +23 more | GConflicting classifications of pathogenicity; risk factor |
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