| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC130064357, RYR1 (H4422Y +1 more) | Single nucleotide variant (missense variant) | Central core myopathy +5 more | |
| | LOC130064357, RYR1 (V4438G +1 more) | Single nucleotide variant (missense variant) | RYR1-related disorder +6 more | |
| | | Duplication (inframe_insertion) | not provided +7 more | |
| | LOC130064357, RYR1 (P4448S +1 more) | Single nucleotide variant (missense variant) | RYR1-related disorder +6 more | |
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