Links from MedGen
Items: 8
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (nonsense) | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | |
| | | Deletion (frameshift variant) | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | |
| | | Single nucleotide variant (nonsense +1 more) | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | |
| | | Single nucleotide variant (nonsense) | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | |
| | LOC126859697, MLIP (Q210*) | Single nucleotide variant (nonsense) | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | |
| | | Deletion (frameshift variant) | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | |
| | | Deletion (frameshift variant +1 more) | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | |
| | | Deletion (frameshift variant +1 more) | Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis | |
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