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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(N759D)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
RYR1
(P1267R)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+3 more
GConflicting classifications of pathogenicity
RYR1
(R1707H)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+2 more
GConflicting classifications of pathogenicity
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