| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Vanishing white matter disease | |
| | | Single nucleotide variant (missense variant) | See cases +5 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Abnormality of the nervous system +2 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | not provided | |
Click to view in NCBI Gene