| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | not provided +1 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | |
| | | Single nucleotide variant (missense variant) | Neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies | |
| | | Single nucleotide variant (missense variant) | SPOP-related disorder +1 more | GConflicting classifications of pathogenicity |
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