| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion (frameshift variant) | Biotinidase deficiency | |
| | | Deletion (nonsense) | Cornelia de Lange syndrome 1 +9 more | |
| | | Copy number gain | Hypotonia +7 more | |
| | | Single nucleotide variant (missense variant) | not provided +9 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant +1 more) | Macrocephaly +24 more | GPathogenic/Likely pathogenic |
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