| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies +1 more | GConflicting classifications of pathogenicity |
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