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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYBPC3
(E989K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GUncertain significance
MYBPC3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy 4
GLikely pathogenic
MYBPC3
(D560fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy
+1 more
GPathogenic
MYBPC3
Single nucleotide variant
(intron variant)
Primary familial hypertrophic cardiomyopathy
+5 more
GPathogenic
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