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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKP2
(H689fs +1 more)
Deletion
(frameshift variant)
not provided
+2 more
GPathogenic
PKP2
Single nucleotide variant
(intron variant +1 more)
not specified
+3 more
GConflicting classifications of pathogenicity
PKP2
Single nucleotide variant
(intron variant)
Arrhythmogenic right ventricular dysplasia 9
+2 more
GUncertain significance
PKP2
(Q62K)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
PKP2
(S53fs)
Duplication
(frameshift variant)
not provided
+2 more
GLikely pathogenic
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