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Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI3
(E62*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1FF
GUncertain significance
TNNI3
(A8G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1FF
GUncertain significance
TNNI3
(E179G)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1FF
GLikely pathogenic
TNNI3
(R74C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
TNNI3
(K207R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+4 more
GUncertain significance
KLF5
(L276* +1 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1FF
GPathogenic
TNNI3
(T31M)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
TNNI3
(A35V)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
TNNI3
(S39fs)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy 7
+6 more
GUncertain significance
TNNI3
Single nucleotide variant
(intron variant)
not provided
+5 more
GLikely benign
TNNI3
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TNNI3
(R74P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
TNNI3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 7
+3 more
GUncertain significance
TNNI3
(V147L)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
+5 more
GUncertain significance
TNNI3
(T119I)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
TNNI3
(R98*)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1FF
+7 more
GLikely benign
TNNI3
(I56T)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
+5 more
GUncertain significance
TNNI3
(R170G)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
+4 more
GConflicting classifications of pathogenicity
TNNI3
(R192C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
TNNI3
(R162W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
+7 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
TNNI3
(E182K)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GPathogenic/Likely pathogenic
TNNI3
(R162Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 2A
+9 more
GPathogenic/Likely pathogenic
TNNI3
(R145Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
+8 more
GPathogenic/Likely pathogenic
TNNI3
(R141Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
TNNI3
(T119N)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+11 more
GUncertain significance
TNNI3
(N185K)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1FF
GPathogenic
TNNI3
(K36Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1FF
GPathogenic
TNNI3
(D196N)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GPathogenic/Likely pathogenic
TNNI3
(P82S)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 2A
+12 more
GBenign/Likely benign
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