| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EIF2B5, LOC129938041 (P39A) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
| | EIF2B5, LOC129938041 (A45G) | Single nucleotide variant (missense variant) | not provided +1 more | |
| | EIF2B5, LOC129938041 (K61R) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
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