| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | LOC101929174, LOC102723838
+378 more | Copy number loss | See cases | |
| | | Deletion (frameshift variant) | not provided | |
| | | Single nucleotide variant (nonsense) | Syndromic intellectual disability +1 more | GConflicting classifications of pathogenicity |
| | | Deletion (frameshift variant) | not provided | |
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