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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBM20
(P52fs)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GUncertain significance
RBM20
(D668E)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
RBM20
(G1016A)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
RBM20
(E1026K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
RBM20
(E1173K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
+2 more
GUncertain significance
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