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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYL3
(E143K)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
APEH, HEMK1
+177 more
Copy number gain
not provided
GPathogenic