| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Hereditary diffuse leukoencephalopathy with spheroids +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | Leukoencephalopathy, diffuse hereditary, with spheroids 1 +1 more | |
| | | Single nucleotide variant (nonsense +1 more) | Brain abnormalities, neurodegeneration, and dysosteosclerosis +1 more | |
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