| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant +1 more) | SCAMP5-related neurodevelopmental disorder with autistic features and seizures +4 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (synonymous variant +1 more) | Macrocephaly-developmental delay syndrome | GConflicting classifications of pathogenicity |
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