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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JUP
(V603M)
Single nucleotide variant
(missense variant)
Naxos disease
+1 more
GUncertain significance
JUP
(R602H)
Single nucleotide variant
(missense variant)
Naxos disease
+2 more
GUncertain significance
JUP
(R176W)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
JUP
(D136N)
Single nucleotide variant
(missense variant)
Naxos disease
+2 more
GUncertain significance
JUP
(G25fs)
Deletion
(frameshift variant)
Naxos disease
GUncertain significance
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