| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Leukoencephalopathy with vanishing white matter 3 | |
| | | Single nucleotide variant (5 prime UTR variant) | not provided +1 more | |
| | | Single nucleotide variant (5 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (5 prime UTR variant) | Vanishing white matter disease | |
| | | Single nucleotide variant (intron variant) | not specified | |
Click to view in NCBI Gene