| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | POLE-related disorder +5 more | |
| | | Single nucleotide variant (missense variant +1 more) | Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, genital anomalies, and immunodeficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant | not provided +4 more | GConflicting classifications of pathogenicity |
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