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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JUP
(M697L)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GBenign
JUP
(W680fs)
Deletion
(frameshift variant)
Arrhythmogenic right ventricular dysplasia 12
+2 more
GPathogenic
JUP
Microsatellite
(inframe_insertion)
Naxos disease
+1 more
GUncertain significance
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