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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806068, RYR2
(M4256T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LOC126806068, RYR2
(M4279I)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+5 more
GConflicting classifications of pathogenicity
LOC126806068, RYR2
(S4377L)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
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