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Items: 23

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYL3
(R154H)
Single nucleotide variant
(missense variant)
not provided
+4 more
GUncertain significance
TNNI3
(K207R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
TNNI3
(D196N)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
TNNI3
(R162Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GPathogenic/Likely pathogenic
TNNI3
(R162W)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TNNI3
(V147L)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
+5 more
GUncertain significance
TNNI3
(R145Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GPathogenic/Likely pathogenic
TNNI3
(R141Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 2A
+7 more
GPathogenic/Likely pathogenic
TNNI3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+5 more
GLikely benign
TNNI3
(T119I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
TNNI3
(T119N)
Single nucleotide variant
(missense variant)
not provided
+11 more
GUncertain significance
TNNI3
(R98*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TNNI3
(P82S)
Single nucleotide variant
(missense variant)
not specified
+12 more
GBenign/Likely benign
TNNI3
(R74P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
TNNI3
(R74C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
TNNI3
(I56T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
TNNI3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1FF
+7 more
GLikely benign
TNNI3
(S39fs)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy 7
+6 more
GUncertain significance
TNNI3
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
TNNI3
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TNNI3
(A35V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
TNNI3
(T31M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+4 more
GUncertain significance
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