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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR2
(R176Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GPathogenic
RYR2
(Q3230K)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely pathogenic
RYR2
(H4579Q)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
GLikely pathogenic
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