| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +2 more | GConflicting classifications of pathogenicity |
| | LOC130009266, POLE (E18fs) | Duplication (frameshift variant) | Facial dysmorphism-immunodeficiency-livedo-short stature syndrome +1 more | |
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