| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EIF2B1, LOC126861664 (T292R) | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | LOC126861664, EIF2B1 (Y275C) | Single nucleotide variant (missense variant) | not specified +2 more | GConflicting classifications of pathogenicity |
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