| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Marfanoid habitus and intellectual disability +4 more | GPathogenic/Likely pathogenic |
| | | Copy number loss | Macrocephaly, acquired, with impaired intellectual development | |
| | | Copy number loss | Macrocephaly, acquired, with impaired intellectual development | |
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