| Variation | | Type (Consequence) | Condition | Classification, Review status |
---|
| | LOC126862902, RYR1 (Y2794*) | Single nucleotide variant (nonsense) | Congenital multicore myopathy with external ophthalmoplegia +2 more | GConflicting classifications of pathogenicity |
| | LOC126862902, RYR1 (E2835D) | Single nucleotide variant (missense variant) | not provided +5 more | GConflicting classifications of pathogenicity |
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