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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2
Single nucleotide variant
(synonymous variant)
not provided
+2 more
GConflicting classifications of pathogenicity
JPH2
(A459T)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
JPH2
(K383N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
JPH2
(S157L)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+2 more
GUncertain significance
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