| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Neuroepithelial neoplasm +7 more | GConflicting classifications of pathogenicity |
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