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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR2
(H464Q)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+6 more
GConflicting classifications of pathogenicity
RYR2
(N658S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
LOC126806067, RYR2
(Y1337C)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+4 more
GUncertain significance
RYR2
(R1463C)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+5 more
GConflicting classifications of pathogenicity
LOC126806068, RYR2
(D4365N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
MYBPC3
(R281W)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+3 more
GUncertain significance
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