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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTC1, GJD2-DT
(G253V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1R
+1 more
GUncertain significance
ACTC1, GJD2-DT
(A232G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 11
GUncertain significance
ACTC1, GJD2-DT
(N227fs)
Duplication
(frameshift variant)
Atrial septal defect 5
GLikely pathogenic
ACTC1, GJD2-DT
(E101K)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
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