Links from MedGen
Items: 14
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Deletion (frameshift variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | EIF2B1, LOC126861664 (T292R) | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 +2 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | |
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 1 +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy with vanishing white matter 1 +2 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (missense variant) | Vanishing white matter disease +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (splice donor variant) | not provided +2 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene