EIF2B4 Chromosome 2
Eukaryotic translation initiation factor 2B subunit delta
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What This Gene Does
Eukaryotic initiation factor 2B (EIF2B), which is necessary for protein synthesis, is a GTP exchange factor composed of five different subunits. The protein encoded by this gene is the fourth, or delta, subunit. Defects in this gene are a cause of leukoencephalopathy with vanishing white matter (VWM) and ovarioleukodystrophy. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Associated Conditions (4)
Vanishing white matter disease
Inborn genetic diseases
Leukoencephalopathy with vanishing white matter 1
Leukoencephalopathy with vanishing white matter 4
Key Variants
RS113994028
Conflicting classifications of pathogenicity
Vanishing white matter disease, Inborn genetic diseases, Leukoencephalopathy with vanishing white matter 1
Health Risk
RS113994032
Conflicting classifications of pathogenicity
Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4
Health Risk
RS113994035
Conflicting classifications of pathogenicity
Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4
Health Risk
RS138249238
Conflicting classifications of pathogenicity
Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 4, Vanishing white matter disease
Health Risk
RS140046653
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS141403112
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS141872864
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS1433783398
Conflicting classifications of pathogenicity
Health Risk
RS190259653
Conflicting classifications of pathogenicity
Health Risk
RS559997020
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS750413412
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS751555693
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
All Variants (47)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS113994028 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Inborn genetic diseases, Leukoencephalopathy with vanishing white matter 1 |
| RS113994032 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS113994035 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS138249238 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 4, Vanishing white matter disease |
| RS140046653 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS141403112 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS141872864 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS1433783398 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS190259653 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS559997020 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS750413412 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS751555693 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS767391188 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS773154770 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS886055903 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS113994033 | Health Risk | Likely pathogenic | Leukoencephalopathy with vanishing white matter 4, Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 4 |
| RS1332546889 | Health Risk | Likely pathogenic | Leukoencephalopathy with vanishing white matter 1, Leukoencephalopathy with vanishing white matter 1 |
| RS1681946262 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS1682025430 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS1682104932 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS1682246203 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS2465505781 | Health Risk | Likely pathogenic | — |
| RS2465519163 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS2465534524 | Health Risk | Likely pathogenic | — |
| RS749942048 | Health Risk | Likely pathogenic | — |
| RS751867352 | Health Risk | Likely pathogenic | — |
| RS774674616 | Health Risk | Likely pathogenic | — |
| RS113994027 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS113994037 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS113994038 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS113994039 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS1380057781 | Health Risk | Pathogenic | — |
| RS1438809925 | Health Risk | Pathogenic | Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 4 |
| RS1443314697 | Health Risk | Pathogenic | — |
| RS1572607363 | Health Risk | Pathogenic | — |
| RS1681971339 | Health Risk | Pathogenic | — |
| RS2465488757 | Health Risk | Pathogenic | — |
| RS2465503929 | Health Risk | Pathogenic | — |
| RS2465509980 | Health Risk | Pathogenic | — |
| RS2465514847 | Health Risk | Pathogenic | — |
| RS2465525224 | Health Risk | Pathogenic | — |
| RS2465530027 | Health Risk | Pathogenic | — |
| RS761106515 | Health Risk | Pathogenic | — |
| RS767850637 | Health Risk | Pathogenic | — |
| RS775042965 | Health Risk | Pathogenic | — |
| RS113994030 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 4, Leukoencephalopathy with vanishing white matter 1 |
| RS113994040 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with vanishing white matter 4, Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 4 |