NBN Chromosome 8

Nibrin
676 variants 676 Health Risk

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What This Gene Does
Mutations in this gene are associated with Nijmegen breakage syndrome, an autosomal recessive chromosomal instability syndrome characterized by microcephaly, growth retardation, immunodeficiency, and cancer predisposition. The encoded protein is a member of the MRE11/RAD50 double-strand break repair complex which consists of 5 proteins. This gene product is thought to be involved in DNA double-strand break repair and DNA damage-induced checkpoint activation. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"BRCA1 C complex|MRN complex"
Locus Type
gene with protein product
Location
8q21.3
Ensembl
ENSG00000104320
Associated Conditions (44)
Microcephaly
normal intelligence and immunodeficiency
Hereditary cancer-predisposing syndrome
Aplastic anemia
Acute lymphoid leukemia
Familial cancer of breast
Malignant tumor of breast
NBN-related disorder
Hereditary cancer
Hereditary breast ovarian cancer syndrome
Thyroid cancer
nonmedullary
1
Ovarian cancer
Breast-ovarian cancer
familial
susceptibility to
Hepatocellular carcinoma
Familial ovarian cancer
Gastric cancer
+24 more conditions
Key Variants
RS104895030
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Microcephaly
Health Risk
RS104895032
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS104895033
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS1060503462
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
Health Risk
RS1060503478
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
Health Risk
RS1060504925
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS1060504926
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Microcephaly
Health Risk
RS1064793477
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS1178683426
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Microcephaly
Health Risk
RS1199013619
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
RS1203807404
Conflicting classifications of pathogenicity
Microcephaly, normal intelligence and immunodeficiency, Microcephaly
Health Risk
RS1213870507
Conflicting classifications of pathogenicity
Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
Health Risk
All Variants (676)
RSID Category Clinical Significance Conditions
RS730881855 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS730881856 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS730881858 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS730881859 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS730881864 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS730882133 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS746347634 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS746422391 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS746632073 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS746994234 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS747027298 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS747315554 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS747632184 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS747837246 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS748373099 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS749512960 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS752004731 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS752837508 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS754352569 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS754659423 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS754865465 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS756023239 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS756572268 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS756817252 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS756946899 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS757753217 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS757754183 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS759094270 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, NBN-related disorder
RS763878712 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS763926389 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS763938484 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS764356392 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS764832388 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS768670249 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS769414 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS769416 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS770345026 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS770699381 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS771034958 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS773524364 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS774256651 Health Risk Conflicting classifications of pathogenicity Aplastic anemia, Microcephaly, normal intelligence and immunodeficiency
RS774324419 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS774989816 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS775244752 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS775848374 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS776469548 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS778254433 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS778881191 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS778998026 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS779543740 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
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