| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense +2 more) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +2 more) | Bilateral frontoparietal polymicrogyria +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | not provided +1 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | Bilateral frontoparietal polymicrogyria | |
Click to view in NCBI Gene