Links from PubMed
Items: 4
| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 5 +1 more | |
| | | Single nucleotide variant (missense variant) | Hypokalemic periodic paralysis, type 1 +3 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (missense variant) | Acetazolamide-responsive myotonia +7 more | GConflicting classifications of pathogenicity |
Click to view in NCBI Gene