NHEJ1 Chromosome 2
Non-homologous end joining factor 1
Upload your DNA to see your personal genotypes for variants in NHEJ1.
What This Gene Does
Double-strand breaks in DNA result from genotoxic stresses and are among the most damaging of DNA lesions. This gene encodes a DNA repair factor essential for the nonhomologous end-joining pathway, which preferentially mediates repair of double-stranded breaks. Mutations in this gene cause different kinds of severe combined immunodeficiency disorders. [provided by RefSeq, Jul 2008]
Associated Conditions (6)
Cernunnos-XLF deficiency
NHEJ1-related disorder
Inborn genetic diseases
Isolated anophthalmia-microphthalmia syndrome
Microphthalmia/coloboma 13
Severe combined immunodeficiency disease
Key Variants
RS113689741
Conflicting classifications of pathogenicity
Cernunnos-XLF deficiency, NHEJ1-related disorder, Cernunnos-XLF deficiency
Health Risk
RS143112457
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS375778719
Conflicting classifications of pathogenicity
Cernunnos-XLF deficiency, Inborn genetic diseases, Cernunnos-XLF deficiency
Health Risk
RS1064796857
Likely pathogenic
Health Risk
RS1064797028
Likely pathogenic
Health Risk
RS146783338
Likely pathogenic
Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
Health Risk
RS1481152382
Likely pathogenic
Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
Health Risk
RS1574729059
Likely pathogenic
Isolated anophthalmia-microphthalmia syndrome, Microphthalmia/coloboma 13, Isolated anophthalmia-microphthalmia syndrome
Health Risk
RS1949868667
Likely pathogenic
Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
Health Risk
RS2106369643
Likely pathogenic
Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
Health Risk
RS753495484
Likely pathogenic
Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
Health Risk
RS786205547
Likely pathogenic
Cernunnos-XLF deficiency, Cernunnos-XLF deficiency
Health Risk
All Variants (30)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113689741 | Health Risk | Conflicting classifications of pathogenicity | Cernunnos-XLF deficiency, NHEJ1-related disorder, Cernunnos-XLF deficiency |
| RS143112457 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS375778719 | Health Risk | Conflicting classifications of pathogenicity | Cernunnos-XLF deficiency, Inborn genetic diseases, Cernunnos-XLF deficiency |
| RS1064796857 | Health Risk | Likely pathogenic | — |
| RS1064797028 | Health Risk | Likely pathogenic | — |
| RS146783338 | Health Risk | Likely pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1481152382 | Health Risk | Likely pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1574729059 | Health Risk | Likely pathogenic | Isolated anophthalmia-microphthalmia syndrome, Microphthalmia/coloboma 13, Isolated anophthalmia-microphthalmia syndrome |
| RS1949868667 | Health Risk | Likely pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS2106369643 | Health Risk | Likely pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS753495484 | Health Risk | Likely pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS786205547 | Health Risk | Likely pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1064793763 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1064797042 | Health Risk | Pathogenic | — |
| RS118204451 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS118204452 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS118204453 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1304446470 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1430712125 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1553542017 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1553548393 | Health Risk | Pathogenic | — |
| RS1949865586 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1949876445 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS1949876985 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS2106320090 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS2469678006 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS777740338 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS886037606 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Cernunnos-XLF deficiency |
| RS886037607 | Health Risk | Pathogenic | Cernunnos-XLF deficiency, Severe combined immunodeficiency disease, Cernunnos-XLF deficiency |
| RS886041973 | Health Risk | Pathogenic | — |