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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI3
(K183N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GPathogenic
TNNI3
(S166C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TNNI3
(D180G)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
TNNI3
(E84*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
GUncertain significance
TNNI3
(E209A)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TNNI3
(R192P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GLikely pathogenic
TNNI3
(M201T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
GUncertain significance
TNNI3
(R204C)
Single nucleotide variant
(missense variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TNNI3
(S166F)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GPathogenic/Likely pathogenic
TNNI3
(I56T)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1FF
+5 more
GUncertain significance
TNNI3
(R192C)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
+6 more
GPathogenic/Likely pathogenic
TNNI3
(A157V)
Single nucleotide variant
(missense variant)
TNNI3-related condition
+6 more
GPathogenic/Likely pathogenic
TNNI3
(K178del)
Microsatellite
(inframe_deletion)
not provided
+2 more
GConflicting classifications of pathogenicity
TNNI3
(R145Q)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+8 more
GPathogenic/Likely pathogenic
TNNI3
(R141Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 2A
+7 more
GPathogenic/Likely pathogenic
TNNI3
(R145W)
Single nucleotide variant
(missense variant)
TNNI3-related condition
+4 more
GPathogenic
TNNI3
(R192H)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+6 more
GPathogenic
TNNI3
(R145G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic
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