| | | Microsatellite (splice donor variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | GConflicting classifications of pathogenicity |
| | LOC126860438, NBN (S638Y +1 more) | Single nucleotide variant (missense variant) | not specified +4 more | |
| | LOC126860438, NBN (K635* +1 more) | Single nucleotide variant (nonsense) | Aplastic anemia +4 more | GPathogenic/Likely pathogenic |
| | LOC126860438, NBN (W550R +1 more) | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | LOC126860438, NBN (S548* +1 more) | Single nucleotide variant (nonsense) | Aplastic anemia | |
| | LOC126860438, NBN (S548* +1 more) | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +2 more | GPathogenic/Likely pathogenic |
| | LOC126860438, NBN (E628fs +1 more) | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | LOC126860438, NBN (E543fs +1 more) | Duplication (frameshift variant) | Aplastic anemia | |
| | LOC126860438, NBN (R624H +1 more) | Single nucleotide variant (missense variant) | Aplastic anemia +3 more | |
| | LOC126860438, NBN (R542G +1 more) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | LOC126860438, NBN (R624C +1 more) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | LOC126860438, NBN (E535D +1 more) | Single nucleotide variant (missense variant) | Aplastic anemia +2 more | |
| | LOC126860438, NBN (E617K +1 more) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | LOC126860438, NBN (E617fs +1 more) | Deletion (frameshift variant) | Aplastic anemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | Aplastic anemia +2 more | GConflicting classifications of pathogenicity |