| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +2 more) | Polymicrogyria, bilateral perisylvian, autosomal recessive +2 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant +2 more) | not provided +2 more | GPathogenic/Likely pathogenic |
| | | Indel (missense variant) | Polymicrogyria, bilateral perisylvian, autosomal recessive +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Bilateral frontoparietal polymicrogyria +3 more | |
| | | Single nucleotide variant (nonsense) | Polymicrogyria, bilateral perisylvian, autosomal recessive +2 more | |
| | | Single nucleotide variant (missense variant) | not specified +2 more | |
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