NBN Chromosome 8

Nibrin
676 variants 676 Health Risk

Upload your DNA to see your personal genotypes for variants in NBN.

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
RS779798363 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS780365310 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS781057669 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS786202749 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS78870221 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS78935210 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS863224715 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS864622446 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS864622466 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS876658177 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876658178 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876658183 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876658347 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS876658411 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876658501 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876658744 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876659059 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS876659451 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876659566 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876659586 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876659666 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Aplastic anemia, Microcephaly
RS876659960 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876660481 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876660925 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876660950 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS876661098 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS878854506 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS878854511 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS886043003 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS886063169 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS915825113 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS941732827 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS944499155 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS957902993 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS962092255 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS980972703 Health Risk Conflicting classifications of pathogenicity Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS1057516392 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS1057516787 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS1057516869 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS1057517075 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS1057517102 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS1057517104 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS1057517209 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS1057517262 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS1060503467 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Hereditary cancer-predisposing syndrome
RS1258938703 Health Risk Likely pathogenic Aplastic anemia, Aplastic anemia
RS1364533250 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
RS1391598284 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Aplastic anemia
RS1394578008 Health Risk Likely pathogenic Microcephaly, normal intelligence and immunodeficiency, Microcephaly
RS142301194 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Microcephaly, normal intelligence and immunodeficiency
« Prev 1 2 3 4 5 6 7 8 ... 14 Next »
Sign Up to Analyze Your DNA Log In