| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Duplication (frameshift variant +2 more) | Vanishing white matter disease | |
| | | Deletion (inframe_indel +2 more) | not provided +2 more | |
| | | Microsatellite (inframe_deletion +1 more) | Vanishing white matter disease +1 more | |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene