| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Copy number loss | See cases | |
| | | Copy number gain | See cases | |
| | LOC130058732, LOC130058733
+504 more | Copy number gain | See cases | |
| | | Single nucleotide variant (missense variant) | Epilepsy, familial adult myoclonic, 6 +1 more | |
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