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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ACTN2
(Q9R)
Single nucleotide variant
(missense variant +1 more)
Intrinsic cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
ACTN2
(S80*)
Single nucleotide variant
(nonsense +1 more)
Intrinsic cardiomyopathy
GLikely pathogenic
ACTN2
Single nucleotide variant
(intron variant +1 more)
Intrinsic cardiomyopathy
GLikely pathogenic
ACTN2
(A651T +1 more)
Single nucleotide variant
(missense variant)
Intrinsic cardiomyopathy
GUncertain significance
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