| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (intron variant) | Hereditary breast ovarian cancer syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | LOC126860438, NBN (E628K +1 more) | Single nucleotide variant (missense variant) | Aplastic anemia +6 more | |
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