| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | | Single nucleotide variant (missense variant +2 more) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (intron variant) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (nonsense +3 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
| | | Single nucleotide variant (missense variant +2 more) | not provided | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +2 more) | PAK1-related condition +2 more | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | not provided | |
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