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Links from MedGen

Items: 72

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNI3
(S42P)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
GUncertain significance
TNNI3
(D152G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
GLikely pathogenic
TNNI3
(R74C)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+7 more
GUncertain significance
TNNI3
(R69H)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
GUncertain significance
TNNI3
(K207R)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GUncertain significance
TNNI3
(G73R)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
+2 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
FHOD3
(I473T +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TNNI3
(T31M)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TNNI3
(A116G)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
+2 more
GUncertain significance
TNNI3
(A35V)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1FF
+5 more
GUncertain significance
TNNI3
(S39fs)
Duplication
(frameshift variant)
Hypertrophic cardiomyopathy 7
+6 more
GUncertain significance
TNNI3
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 2A
+5 more
GLikely benign
TNNI3
Single nucleotide variant
(splice donor variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Cardiomyopathy, familial restrictive, 1
+3 more
GUncertain significance
TNNI3
(R74P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+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)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+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)
Dilated cardiomyopathy 2A
+5 more
GUncertain significance
TNNI3
Single nucleotide variant
(5 prime UTR variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+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
(S199N)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TNNI3
(R141W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TNNI3
(T119I)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
+6 more
GUncertain significance
TNNI3
(R136Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
TNNI3
(R98*)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 2A
+7 more
GLikely benign
TNNI3
(S166F)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic/Likely pathogenic
TNNI3
(I56T)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
TNNI3
(L88fs)
Deletion
(frameshift variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+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)
Dilated cardiomyopathy 1FF
+6 more
GPathogenic/Likely pathogenic
TNNI3
(R162W)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
DNAAF3, TNNI3
Single nucleotide variant
(5 prime UTR variant)
Familial restrictive cardiomyopathy
+8 more
GBenign/Likely benign
TNNI3
Single nucleotide variant
(synonymous variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+7 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
not specified
+6 more
GBenign
TNNI3
(R186Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GPathogenic/Likely pathogenic
DNAAF3, TNNI3
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TNNI3
(R162P)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GPathogenic/Likely pathogenic
TNNI3
(R162Q)
Single nucleotide variant
(missense variant)
TNNI3-related condition
+9 more
GPathogenic/Likely pathogenic
TNNI3
(A157V)
Single nucleotide variant
(missense variant)
TNNI3-related condition
+6 more
GPathogenic/Likely pathogenic
TNNI3
(R145Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GPathogenic/Likely pathogenic
TNNI3
(R141Q)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GPathogenic/Likely pathogenic
TNNI3
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(intron variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+7 more
GConflicting classifications of pathogenicity
TNNI3
(T119N)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GUncertain significance
TNNI3
Single nucleotide variant
(synonymous variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+8 more
GConflicting classifications of pathogenicity
DNAAF3, TNNI3
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Recessive
+9 more
GBenign/Likely benign
TNNI3
(R79C)
Single nucleotide variant
(missense variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+9 more
GConflicting classifications of pathogenicity
DNAAF3, TNNI3
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GConflicting classifications of pathogenicity
TNNI3
Single nucleotide variant
(synonymous variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+10 more
GBenign/Likely benign
TNNI3
Single nucleotide variant
(intron variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+7 more
GConflicting classifications of pathogenicity
DNAAF3, TNNI3
Single nucleotide variant
(intron variant)
not specified
+9 more
GBenign/Likely benign
DNAAF3, TNNI3
+1 more
Single nucleotide variant
(intron variant)
Familial Hypertrophic Cardiomyopathy with Wolff-Parkinson-White Syndrome
+9 more
GConflicting classifications of pathogenicity
TNNI3
(R21C)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GPathogenic
TNNI3
(K183del)
Deletion
(inframe_deletion)
Hypertrophic cardiomyopathy 7
GPathogenic
TNNI3
(G203S)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
GPathogenic
TNNI3
(K178E)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
GPathogenic
TNNI3
(D190G)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 1
+1 more
GPathogenic
TNNI3
(D196N)
Single nucleotide variant
(missense variant)
not provided
+7 more
GPathogenic/Likely pathogenic
TNNI3
(P82S)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+12 more
GBenign/Likely benign
TNNI3
(K206Q)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 7
GPathogenic
TNNI3
(R145G)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GPathogenic
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