EIF2B1 Chromosome 12
Eukaryotic translation initiation factor 2B subunit alpha
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What This Gene Does
This gene encodes one of five subunits of eukaryotic translation initiation factor 2B (EIF2B), a GTP exchange factor for eukaryotic initiation factor 2 and an essential regulator for protein synthesis. Mutations in this gene and the genes encoding other EIF2B subunits have been associated with leukoencephalopathy with vanishing white matter. [provided by RefSeq, Oct 2009]
Associated Conditions (4)
Vanishing white matter disease
Leukoencephalopathy with vanishing white matter 1
Uterine corpus endometrial carcinoma
See cases
Key Variants
RS113994006
Conflicting classifications of pathogenicity
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1, Uterine corpus endometrial carcinoma
Health Risk
RS200139223
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS200969641
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS2135758861
Conflicting classifications of pathogenicity
See cases, See cases
Health Risk
RS758794919
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS768380909
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS776489281
Conflicting classifications of pathogenicity
Health Risk
RS1468940369
Likely pathogenic
Health Risk
RS2541676016
Likely pathogenic
Health Risk
RS2541676186
Likely pathogenic
Health Risk
RS2541679267
Likely pathogenic
Health Risk
RS2541682153
Likely pathogenic
Health Risk
All Variants (39)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113994006 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1, Uterine corpus endometrial carcinoma |
| RS200139223 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS200969641 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS2135758861 | Health Risk | Conflicting classifications of pathogenicity | See cases, See cases |
| RS758794919 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS768380909 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS776489281 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS1468940369 | Health Risk | Likely pathogenic | — |
| RS2541676016 | Health Risk | Likely pathogenic | — |
| RS2541676186 | Health Risk | Likely pathogenic | — |
| RS2541679267 | Health Risk | Likely pathogenic | — |
| RS2541682153 | Health Risk | Likely pathogenic | — |
| RS749213860 | Health Risk | Likely pathogenic | — |
| RS1278744613 | Health Risk | Pathogenic | — |
| RS1381188740 | Health Risk | Pathogenic | — |
| RS1486630796 | Health Risk | Pathogenic | — |
| RS1955201439 | Health Risk | Pathogenic | — |
| RS2135759698 | Health Risk | Pathogenic | — |
| RS2135761807 | Health Risk | Pathogenic | — |
| RS2541675859 | Health Risk | Pathogenic | — |
| RS2541679076 | Health Risk | Pathogenic | — |
| RS2547826878 | Health Risk | Pathogenic | — |
| RS2547828012 | Health Risk | Pathogenic | — |
| RS549587142 | Health Risk | Pathogenic | — |
| RS746435041 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS757985338 | Health Risk | Pathogenic | — |
| RS764262014 | Health Risk | Pathogenic | — |
| RS780061310 | Health Risk | Pathogenic | — |
| RS780116205 | Health Risk | Pathogenic | — |
| RS863225048 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS863225049 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS863225050 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS863225051 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS863225052 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS1435171602 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with vanishing white matter 1, Leukoencephalopathy with vanishing white matter 1 |
| RS370678173 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1, Vanishing white matter disease |
| RS758746181 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 1, Vanishing white matter disease |
| RS768945314 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS779473190 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with vanishing white matter 1, Leukoencephalopathy with vanishing white matter 1 |