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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
JPH2
(N321S)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
JPH2
(S306G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
GUncertain significance
JPH2
(E280K)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
JPH2
(E19D)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 17
+2 more
GUncertain significance
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