| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | LOC129389795, LOC129389796
+636 more | Copy number gain | See cases | |
| | SNORA5A, SNORA5B
+212 more | Copy number loss | See cases | |
| | CDK13, LOC129998293 (R190L) | Single nucleotide variant (missense variant) | not provided | |
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