| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | |
| | | Deletion | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome | |
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