| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Early infantile epileptic encephalopathy with suppression bursts +1 more | |
| | | Single nucleotide variant (missense variant) | Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly +1 more | GConflicting classifications of pathogenicity |
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