| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | EIF2B4, GTF3C2-AS2 (R466W +7 more) | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | EIF2B4, GTF3C2-AS2 (T241A +7 more) | Single nucleotide variant (missense variant) | Vanishing white matter disease | |
Click to view in NCBI Gene