| | | Single nucleotide variant (synonymous variant) | not provided +3 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | LOC126860438, NBN (K635* +1 more) | Single nucleotide variant (nonsense) | Aplastic anemia +4 more | GPathogenic/Likely pathogenic |
| | LOC126860438, NBN (E628K +1 more) | Single nucleotide variant (missense variant) | Acute lymphoid leukemia +6 more | |
| | | 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 (nonsense) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Deletion (frameshift variant) | Aplastic anemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Acute lymphoid leukemia +6 more | |
| | | Indel (frameshift variant) | Aplastic anemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Deletion (splice donor variant) | Aplastic anemia +4 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 +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Acute lymphoid leukemia +6 more | |
| | | Single nucleotide variant (nonsense) | Aplastic anemia +3 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 | |
| | | Single nucleotide variant (nonsense) | Hereditary cancer-predisposing syndrome +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (intron variant) | Acute lymphoid leukemia +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | Aplastic anemia +3 more | |
| | | Single nucleotide variant (missense variant) | Aplastic anemia +3 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Acute lymphoid leukemia +6 more | |
| | | Single nucleotide variant (missense variant) | not specified +6 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Deletion (frameshift variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +5 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +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 (synonymous variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | | Single nucleotide variant (missense variant) | not provided +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (splice acceptor variant) | Microcephaly, normal intelligence and immunodeficiency +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +5 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | | Single nucleotide variant (missense variant) | Hereditary cancer-predisposing syndrome +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (synonymous variant) | Microcephaly, normal intelligence and immunodeficiency +5 more | |
| | | Single nucleotide variant (missense variant) | Microcephaly, normal intelligence and immunodeficiency +3 more | |
| | | Microsatellite (inframe_deletion) | Hereditary cancer-predisposing syndrome +4 more | |
| | | Single nucleotide variant (missense variant) | not specified +5 more | GConflicting classifications of pathogenicity |
| | | Duplication (frameshift variant) | Acute lymphoid leukemia +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Acute lymphoid leukemia +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | not specified +5 more | |
| | | Insertion (5 prime UTR variant +1 more) | Microcephaly, normal intelligence and immunodeficiency +3 more | GPathogenic/Likely pathogenic |
| | | Deletion (5 prime UTR variant +1 more) | Hereditary breast ovarian cancer syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Microcephaly, normal intelligence and immunodeficiency +2 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Aplastic anemia +4 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (intron variant) | Acute lymphoid leukemia +5 more | |
| | | Single nucleotide variant (5 prime UTR variant +1 more) | Hereditary cancer-predisposing syndrome +3 more | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +4 more | |
| | | Single nucleotide variant (synonymous variant) | Acute lymphoid leukemia +2 more | |