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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI3
(R192H)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+6 more
GPathogenic
TNNI3
(K178E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
GPathogenic
TNNI3
(T119N)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+11 more
GUncertain significance
TNNI3
(A116G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
TNNI3
(L88fs)
Deletion
(frameshift variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TNNI3, TNNT1
Copy number loss
Nemaline myopathy 5
GPathogenic
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