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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, GJD2-DT
(Y242C)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+2 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
(R212H)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
(T128A)
Single nucleotide variant
(missense variant)
Atrial septal defect 5
+2 more
GConflicting classifications of pathogenicity
ACTC1, GJD2-DT
(T105fs)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 11
+2 more
GConflicting classifications of pathogenicity
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