EIF2B2 Chromosome 14
Eukaryotic translation initiation factor 2B subunit beta
Upload your DNA to see your personal genotypes for variants in EIF2B2.
What This Gene Does
This gene encodes the beta subunit of eukaryotic initiation factor-2B (EIF2B). EIF2B is involved in protein synthesis and exchanges GDP and GTP for its activation and deactivation. [provided by RefSeq, Aug 2011]
Associated Conditions (11)
Vanishing white matter disease
EIF2B2-related disorder
Leukoencephalopathy with vanishing white matter 2
Clear cell carcinoma of kidney
Malignant tumor of esophagus
See cases
Leukoencephalopathy with vanishing white matter 1
Premature ovarian insufficiency
Inborn genetic diseases
Osteogenesis imperfecta
Abnormality of the nervous system
Key Variants
RS1365390122
Conflicting classifications of pathogenicity
Health Risk
RS139325888
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS146228503
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS147596765
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS150617429
Conflicting classifications of pathogenicity
Vanishing white matter disease, EIF2B2-related disorder, Vanishing white matter disease
Health Risk
RS745915599
Conflicting classifications of pathogenicity
Health Risk
RS747522516
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS756121992
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS766102981
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS766487534
Conflicting classifications of pathogenicity
Vanishing white matter disease, Vanishing white matter disease
Health Risk
RS773041356
Conflicting classifications of pathogenicity
Leukoencephalopathy with vanishing white matter 2, Leukoencephalopathy with vanishing white matter 2
Health Risk
RS1131691872
Likely pathogenic
Health Risk
All Variants (44)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1365390122 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS139325888 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS146228503 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS147596765 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS150617429 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, EIF2B2-related disorder, Vanishing white matter disease |
| RS745915599 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS747522516 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS756121992 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS766102981 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS766487534 | Health Risk | Conflicting classifications of pathogenicity | Vanishing white matter disease, Vanishing white matter disease |
| RS773041356 | Health Risk | Conflicting classifications of pathogenicity | Leukoencephalopathy with vanishing white matter 2, Leukoencephalopathy with vanishing white matter 2 |
| RS1131691872 | Health Risk | Likely pathogenic | — |
| RS113994011 | Health Risk | Likely pathogenic | — |
| RS1595009164 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS2503004516 | Health Risk | Likely pathogenic | — |
| RS373906805 | Health Risk | Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2, Clear cell carcinoma of kidney |
| RS374037958 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS752278683 | Health Risk | Likely pathogenic | Malignant tumor of esophagus, Leukoencephalopathy with vanishing white matter 2, Malignant tumor of esophagus |
| RS760542683 | Health Risk | Likely pathogenic | — |
| RS761055346 | Health Risk | Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS767933078 | Health Risk | Likely pathogenic | Leukoencephalopathy with vanishing white matter 2, Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2 |
| RS104894425 | Health Risk | Pathogenic | Vanishing white matter disease, See cases, Leukoencephalopathy with vanishing white matter 2 |
| RS113994014 | Health Risk | Pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2, Vanishing white matter disease |
| RS113994017 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS1160961207 | Health Risk | Pathogenic | — |
| RS1889561523 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS2503004399 | Health Risk | Pathogenic | — |
| RS2503006016 | Health Risk | Pathogenic | — |
| RS2503006105 | Health Risk | Pathogenic | — |
| RS2503007932 | Health Risk | Pathogenic | — |
| RS2503011630 | Health Risk | Pathogenic | — |
| RS2503011638 | Health Risk | Pathogenic | — |
| RS758398310 | Health Risk | Pathogenic | Premature ovarian insufficiency, Premature ovarian insufficiency |
| RS771315757 | Health Risk | Pathogenic | EIF2B2-related disorder, EIF2B2-related disorder |
| RS957633719 | Health Risk | Pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS104894426 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2, Vanishing white matter disease |
| RS104894427 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with vanishing white matter 2, Leukoencephalopathy with vanishing white matter 2 |
| RS104894428 | Health Risk | Pathogenic/Likely pathogenic | Leukoencephalopathy with vanishing white matter 2, Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2 |
| RS113994012 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, See cases, Inborn genetic diseases |
| RS113994016 | Health Risk | Pathogenic/Likely pathogenic | Premature ovarian insufficiency, Vanishing white matter disease, Osteogenesis imperfecta |
| RS113994018 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Vanishing white matter disease |
| RS372548739 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Abnormality of the nervous system, Leukoencephalopathy with vanishing white matter 2 |
| RS397514648 | Health Risk | Pathogenic/Likely pathogenic | Abnormality of the nervous system, Leukoencephalopathy with vanishing white matter 2, Vanishing white matter disease |
| RS755436800 | Health Risk | Pathogenic/Likely pathogenic | Vanishing white matter disease, Leukoencephalopathy with vanishing white matter 2, Vanishing white matter disease |