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Links from MedGen

Items: 65

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI3
(S44A)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
GPathogenic
FLNC
(R916W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 26
+4 more
GUncertain significance
TNNI3
(R74C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
TNNI3
(D196G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+4 more
GUncertain significance
TNNI3
(K207R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
TNNI3
(Q156E)
Single nucleotide variant
(missense variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+3 more
GUncertain significance
DNAAF3, DNAAF3-AS1
+1 more
(R108S +3 more)
Single nucleotide variant
(missense variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+4 more
GUncertain significance
DNAAF3, DNAAF3-AS1
+2 more
Single nucleotide variant
(synonymous variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+4 more
GConflicting classifications of pathogenicity
TNNI3
(A35D)
Single nucleotide variant
(missense variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+3 more
GUncertain significance
TNNI3
Single nucleotide variant
(3 prime UTR variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+3 more
GUncertain significance
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+4 more
GUncertain significance
TNNI3
(T31M)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
TNNI3
(E209D)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
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)
not provided
+5 more
GLikely benign
TNNI3
Single nucleotide variant
(splice donor variant)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Cardiomyopathy, familial restrictive, 1
+3 more
GUncertain significance
CRYAB
(D109G +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1II
GLikely pathogenic
TNNI3
(D127Y)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
GLikely pathogenic
TNNI3
(R74P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+6 more
GUncertain significance
DNAAF3, DNAAF3-AS1
+1 more
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+6 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 7
+3 more
GUncertain significance
TNNI3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(3 prime UTR variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TNNI3
(V147L)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Hypertrophic cardiomyopathy 7
+5 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+4 more
GConflicting classifications of pathogenicity
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
(R170W)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+3 more
GPathogenic/Likely pathogenic
TNNI3
(I56T)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
TNNI3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
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)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
DNAAF3, TNNI3
Single nucleotide variant
(5 prime UTR variant)
not provided
+9 more
GBenign/Likely benign
TNNI3
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+6 more
GBenign
DNAAF3, TNNI3
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
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
(R141Q)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 2A
+7 more
GPathogenic/Likely pathogenic
TNNI3
Single nucleotide variant
(intron variant)
not provided
+7 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TNNI3
(T119N)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+11 more
GUncertain significance
TNNI3
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GConflicting classifications of pathogenicity
DNAAF3, TNNI3
Single nucleotide variant
(intron variant)
Primary ciliary dyskinesia
+10 more
GBenign/Likely benign
TNNI3
(R79C)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
DNAAF3, TNNI3
Single nucleotide variant
(synonymous variant)
Primary ciliary dyskinesia
+9 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(synonymous variant)
not provided
+10 more
GBenign/Likely benign
TNNI3
Single nucleotide variant
(intron variant)
Cardiomyopathy, familial restrictive, 1
+7 more
GConflicting classifications of pathogenicity
DNAAF3, TNNI3
Single nucleotide variant
(intron variant)
not provided
+10 more
GBenign/Likely benign
DNAAF3, TNNI3
+1 more
Single nucleotide variant
(intron variant)
not specified
+9 more
GConflicting classifications of pathogenicity
MYL3
(R154H)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
TNNI3
(A171T)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+1 more
GUncertain significance
TNNI3
(L144Q)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
GPathogenic
TNNI3
(R145W)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GPathogenic
TNNI3
(K178E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
GPathogenic
TNNI3
(R192H)
Single nucleotide variant
(missense variant)
Restrictive cardiomyopathy
+6 more
GPathogenic
TNNI3
(D190G)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
+1 more
GPathogenic
TNNI3
(D196N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
TNNI3
(P82S)
Single nucleotide variant
(missense variant)
Familial restrictive cardiomyopathy
+12 more
GBenign/Likely benign
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