| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant +1 more) | Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures +3 more | |
| | | Single nucleotide variant (missense variant +2 more) | Microcephaly +2 more | |
| | | Single nucleotide variant (missense variant +1 more) | Microcephaly +2 more | |
| | | Duplication (frameshift variant +2 more) | Neurodevelopmental disorder with microcephaly, movement abnormalities, and seizures +3 more | |
| | | Single nucleotide variant (missense variant +3 more) | Microcephaly +2 more | |
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