| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly, acquired, with impaired intellectual development +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | Marfanoid habitus and intellectual disability +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense) | Macrocephaly +3 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (nonsense +1 more) | Macrocephaly, acquired, with impaired intellectual development +3 more | |
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