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Items: 17

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI3
(E209*)
Duplication
(nonsense)
not provided
+1 more
GConflicting classifications of pathogenicity
TNNI3
(R192H)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+6 more
GPathogenic
TNNI3
(G189E)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
GUncertain significance
TNNI3
(R186Q)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
TNNI3
(V176M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
TNNI3
(K174N)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
GPathogenic
TNNI3
(R170W)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
TNNI3
(R162Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic/Likely pathogenic
TNNI3
(R145Q)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+8 more
GPathogenic/Likely pathogenic
TNNI3
(R145W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GPathogenic
TNNI3
(R136Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TNNI3
(K131del)
Microsatellite
(inframe_deletion)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
TNNI3
(E124K)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNI3
(T119N)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+11 more
GUncertain significance
TNNI3
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
TNNI3
(A75V)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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