| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Acute rhabdomyolysis +5 more | |
| | | Single nucleotide variant (missense variant +2 more) | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +6 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene