| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Deletion | Acute rhabdomyolysis +5 more | |
| | | Single nucleotide variant (intron variant) | not provided +1 more | |
| | | Deletion (splice acceptor variant +2 more) | Cardiac arrhythmia +4 more | |
| | | Single nucleotide variant (missense variant +2 more) | Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome +6 more | GPathogenic/Likely pathogenic |
| | | Single nucleotide variant (non-coding transcript variant +2 more) | Intellectual disability +7 more | GPathogenic/Likely pathogenic |
Click to view in NCBI Gene