| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant +2 more) | Abnormal brain morphology +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies +2 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (5 prime UTR variant +2 more) | Abnormal brain morphology | |
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