U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Links from MedGen

Items: 32

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI3
(E62*)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 2A
+1 more
GConflicting classifications of pathogenicity
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)
Hypertrophic 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)
Cardiomyopathy
+6 more
GUncertain significance
TNNI3
(A35V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 2A
+5 more
GUncertain significance
TNNI3
(S39fs)
Duplication
(frameshift variant)
Dilated cardiomyopathy 2A
+6 more
GUncertain significance
TNNI3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+5 more
GLikely benign
TNNI3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy
+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
+6 more
GUncertain significance
TNNI3
(T119I)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TNNI3
(R98*)
Single nucleotide variant
(nonsense)
not provided
+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)
not provided
+6 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)
Restrictive cardiomyopathy
+6 more
GPathogenic/Likely pathogenic
TNNI3
(R162W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+6 more
GBenign
TNNI3
(E182K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TNNI3
(R162Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1FF
+8 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)
Dilated cardiomyopathy 2A
+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)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
TNNI3
(P82S)
Single nucleotide variant
(missense variant)
Amyloidosis, hereditary systemic 1
+12 more
GBenign/Likely benign
Format
Items per page
Sort by
Choose Destination