| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +2 more) | See cases +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +1 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +2 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
| | | Single nucleotide variant (missense variant +3 more) | Intellectual developmental disorder with macrocephaly, seizures, and speech delay | |
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