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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR1
(R1606C)
Single nucleotide variant
(missense variant)
Malignant hyperthermia, susceptibility to, 1
+6 more
GUncertain significance
RYR1
(R3283*)
Single nucleotide variant
(nonsense)
not provided
+6 more
GPathogenic/Likely pathogenic
RYR1
(V4843L +1 more)
Single nucleotide variant
(missense variant)
RYR1-related disorder
+1 more
GUncertain significance
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