| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EIF2B4, GTF3C2-AS2 (P242L +7 more) | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +2 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +3 more | |
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