NM_002485.5(NBN):c.2117C>G (p.Ser706Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Microcephaly, normal intelligence and immunodeficiency|Microcephaly, normal intelligence and immunodeficiency;Malignant tumor of breast|Aplastic anemia|NBN-related disorder
β
β
ββ2026β Residue 706
NM_002485.5(NBN):c.156_157del (p.Ser53fs)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Acute lymphoid leukemia|not provided|Hereditary cancer-predisposing syndrome|Hereditary breast ovarian cancer syndrome|See cases|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia|Aplastic anemia|NBN-related disorder
β
β
ββ2026β Residue 53
NM_002485.5(NBN):c.2140C>T (p.Arg714Ter)Pathogenic
not provided|Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia|Aplastic anemia
β
β
ββ2026β Residue 714
NM_002485.5(NBN):c.657_661del (p.Lys219fs)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Breast-ovarian cancer, familial, susceptibility to, 1|Hereditary cancer-predisposing syndrome|Microcephaly;Lissencephaly|not provided|Carcinoma of pancreas|Breast and/or ovarian cancer|Malignant tumor of breast|Microcephaly, normal intelligence and immunodeficiency;Familial cancer of breast|Breast carcinoma|Hepatocellular carcinoma|Aplastic anemia|NBN-related disorder|Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia|Familial prostate cancer
β
β
ββ2026β Residue 219
NM_002485.5(NBN):c.698_701del (p.Lys233fs)Pathogenic
Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|not provided|Malignant tumor of breast|Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia|Aplastic anemia|NBN-related disorder
β
β
ββ2026β Residue 233
NM_002485.5(NBN):c.2071-1G>ALikely pathogenic
not provided|Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia
β
β
ββ2026
NM_002485.5(NBN):c.265C>T (p.Arg89Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|not provided|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia|Gastric cancer|Aplastic anemia
β
β
ββ2026β Residue 89
NM_002485.5(NBN):c.897-2A>TLikely pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|not provided|Acute lymphoid leukemia;Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia|NBN-related disorder|Aplastic anemia
β
β
ββ2025
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter)Pathogenic
Hereditary cancer-predisposing syndrome|not provided|Microcephaly, normal intelligence and immunodeficiency|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia|Aplastic anemia
β
β
ββ2025β Residue 635
NM_002485.5(NBN):c.48C>G (p.Tyr16Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|NBN-related disorder
β
β
ββ2025β Residue 16
NM_002485.5(NBN):c.1030C>T (p.Gln344Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|not provided|Hereditary cancer-predisposing syndrome|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia|Aplastic anemia
β
β
ββ2025β Residue 344
NM_002485.5(NBN):c.210_211del (p.Asp70fs)Pathogenic
Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|not provided|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia
β
β
ββ2025β Residue 70
NM_002485.5(NBN):c.1837A>T (p.Lys613Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Aplastic anemia
β
β
ββ2025β Residue 613
NM_002485.5(NBN):c.141_142del (p.Leu48fs)Pathogenic
not provided|Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|Aplastic anemia|Aplastic anemia;Acute lymphoid leukemia;Microcephaly, normal intelligence and immunodeficiency|Hereditary breast ovarian cancer syndrome
β
β
ββ2025β Residue 48
NM_002485.5(NBN):c.93_94del (p.Ala32fs)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|not provided|Prostate cancer susceptibility;Lymphoma;Familial cancer of breast|Aplastic anemia
β
β
ββ2025β Residue 32
NM_002485.5(NBN):c.37+1G>APathogenic
Hereditary cancer-predisposing syndrome|Microcephaly, normal intelligence and immunodeficiency|not provided|Breast and/or ovarian cancer|Breast-ovarian cancer, familial, susceptibility to, 1|Aplastic anemia|Aplastic anemia;Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia
β
β
ββ2025
NM_002485.5(NBN):c.1071dup (p.Val358fs)Pathogenic
Ovarian carcinoma|Microcephaly, normal intelligence and immunodeficiency
β
β
ββ2025β Residue 358
NM_002485.5(NBN):c.2070+2T>GLikely pathogenic
Hereditary cancer-predisposing syndrome|not provided|Microcephaly, normal intelligence and immunodeficiency
β
β
ββ2025
NM_002485.5(NBN):c.1747C>T (p.Gln583Ter)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|Hereditary cancer-predisposing syndrome|not provided|Acute lymphoid leukemia;Microcephaly, normal intelligence and immunodeficiency;Aplastic anemia|Aplastic anemia
β
β
ββ2025β Residue 583
NM_002485.5(NBN):c.1255_1258del (p.Asn419fs)Pathogenic
Microcephaly, normal intelligence and immunodeficiency|not provided|Hereditary cancer-predisposing syndrome|Aplastic anemia|Microcephaly, normal intelligence and immunodeficiency;Acute lymphoid leukemia;Aplastic anemia
β
β
ββ2025β Residue 419