| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (nonsense) | Malignant hyperthermia, susceptibility to, 1 +8 more | GConflicting classifications of pathogenicity |
| | LOC126862902, RYR1 (I2781fs) | Deletion (frameshift variant) | RYR1-Related Disorders +6 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (intron variant) | Malignant hyperthermia, susceptibility to, 1 +7 more | GConflicting classifications of pathogenicity |
| | | Single nucleotide variant (nonsense) | RYR1-Related Disorders +1 more | |
| | | Single nucleotide variant (missense variant) | Malignant hyperthermia, susceptibility to, 1 | |
| | | Single nucleotide variant (missense variant) | not provided +4 more | GConflicting classifications of pathogenicity |
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