| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Cornelia de Lange syndrome 1 +1 more | |
| | | Single nucleotide variant (missense variant +2 more) | Abnormal brain morphology +1 more | |
| | | Duplication (frameshift variant) | not provided +2 more | GPathogenic/Likely pathogenic |
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