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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RYR2
(M1694V)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
RYR2
(F1942C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
RYR2
(A2387V)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia 1
+2 more
GPathogenic/Likely pathogenic
RYR2
(I4554T)
Single nucleotide variant
(missense variant)
Catecholaminergic polymorphic ventricular tachycardia
+2 more
GUncertain significance
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