| | | Single nucleotide variant (synonymous variant) | Acute lymphoid leukemia +5 more | |
| | | Single nucleotide variant (missense variant) | Acute lymphoid leukemia +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | LOC126860438, NBN (K635* +1 more) | Single nucleotide variant (nonsense) | Microcephaly, normal intelligence and immunodeficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Duplication (intron variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Aplastic anemia +2 more | |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | not provided +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Acute lymphoid leukemia +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | NBN-related disorder +5 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +7 more | GConflicting classifications of pathogenicity |
| | | Microsatellite (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (synonymous variant) | not specified +3 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (5 prime UTR variant) | Hereditary cancer-predisposing syndrome +1 more | |