| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Microsatellite (inframe_deletion) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (nonsense) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (splice acceptor variant) | Aplastic anemia +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +6 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (splice acceptor variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (synonymous variant) | Hereditary cancer-predisposing syndrome +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (intron variant) | Acute lymphoid leukemia +4 more | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | LOC126860438, NBN (S638Y +1 more) | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | LOC126860438, NBN (S638P +1 more) | Single nucleotide variant (missense variant) | not specified +3 more | |
| | LOC126860438, NBN (K635* +1 more) | Single nucleotide variant (nonsense) | Aplastic anemia +4 more | GPathogenic/Likely pathogenic |
| | LOC126860438, NBN (E628fs +1 more) | Deletion (frameshift variant) | not provided +3 more | GPathogenic/Likely pathogenic |
| | LOC126860438, NBN (K627R +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126860438, NBN (R624H +1 more) | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | LOC126860438, NBN (E537A +1 more) | Single nucleotide variant (missense variant) | not provided +2 more | |
| | LOC126860438, NBN (E617K +1 more) | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | | Single nucleotide variant (intron variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Single nucleotide variant (intron variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Single nucleotide variant (missense variant) | Ovarian cancer +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | not specified +3 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +2 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +1 more | |