| | | Single nucleotide variant (splice donor variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | LOC126860438, NBN (K627R +1 more) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Duplication (frameshift variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Deletion (frameshift variant) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Indel (frameshift variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Single nucleotide variant (nonsense) | not provided +2 more | |
| | | Deletion (inframe_deletion +1 more) | not provided | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Microcephaly, normal intelligence and immunodeficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice acceptor variant) | NBN-related disorder +5 more | |
| | | Microsatellite (frameshift variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | Microcephaly +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary breast ovarian cancer syndrome +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | not provided | |
| | | Deletion (frameshift variant) | Aplastic anemia +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Aplastic anemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not provided +1 more | |
| | | Single nucleotide variant (splice donor variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | GPathogenic/Likely pathogenic |