| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130064357, RYR1 (F4441I +1 more) | Single nucleotide variant (missense variant) | RYR1-related disorder +1 more | |
| | LOC130064357, RYR1 (R4442L +1 more) | Single nucleotide variant (missense variant) | RYR1-related disorder +1 more | |
| | LOC130064357, RYR1 (E4444K +1 more) | Single nucleotide variant (missense variant) | RYR1-related disorder +1 more | |
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