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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
RBM20
(R634Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
RBM20
(R726*)
Single nucleotide variant
(nonsense)
not provided
+3 more
GConflicting classifications of pathogenicity
RBM20
(M905K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1DD
GPathogenic/Likely pathogenic
ABLIM1, ABRAXAS2
+146 more
Copy number gain
not provided
GPathogenic
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