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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JUP
(P736L)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular dysplasia 12
+4 more
GConflicting classifications of pathogenicity
JUP
(W680fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GPathogenic
JUP
(S343N)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
JUP
(E301G)
Single nucleotide variant
(missense variant)
Arrhythmogenic right ventricular cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
JUP
(V190M)
Single nucleotide variant
(missense variant)
Naxos disease
+4 more
GConflicting classifications of pathogenicity
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