| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC123477714, LOC123477715
+1267 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992561, LOC129992562
+1409 more | Copy number gain | Neurodevelopmental disorder | |
| | LOC129992261, LOC129992262
+962 more | Copy number gain | Neurodevelopmental disorder | |
| | | Single nucleotide variant (splice acceptor variant) | Congenital myasthenic syndrome 10 | GConflicting classifications of pathogenicity |
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