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Items: 1 to 100 of 277

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CSRP1, CSRP1-AS1
+49 more
Copy number gain
See cases
GUncertain significance
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Deletion
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
Familial restrictive cardiomyopathy
+7 more
GBenign/Likely benign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(3 prime UTR variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TNNT2
Deletion
(3 prime UTR variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(3 prime UTR variant)
Cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TNNT2
(W287* +5 more)
Single nucleotide variant
(nonsense)
not provided
+5 more
GPathogenic/Likely pathogenic
TNNT2
(W287L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TNNT2
(W287* +5 more)
Single nucleotide variant
(nonsense)
not provided
+7 more
GPathogenic/Likely pathogenic
TNNT2
(R286H +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+6 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GBenign/Likely benign
TNNT2
(G285R +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
TNNT2
(G279E +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
TNNT2
(G279R +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TNNT2
(R278P +5 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TNNT2
(R278C +5 more)
Single nucleotide variant
(missense variant)
Primary familial hypertrophic cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 2
+5 more
GLikely benign
TNNT2
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1D
+3 more
GUncertain significance
TNNT2
Single nucleotide variant
(splice acceptor variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
+5 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
+3 more
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1D
+3 more
GBenign/Likely benign
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
+3 more
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNT2
(K273E +5 more)
Single nucleotide variant
(missense variant)
not provided
GPathogenic
TNNT2
(Q282fs +5 more)
Duplication
(frameshift variant)
Cardiomyopathy
GPathogenic
TNNT2
(N265S +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy, familial restrictive, 3
+3 more
GUncertain significance
TNNT2
(N268I +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+6 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TNNT2
(N269Y +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNT2
(R265Q +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
TNNT2
(N262S +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
TNNT2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1D
+4 more
GBenign
TNNT2
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 2
+3 more
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+4 more
GUncertain significance
TNNT2
(E260K +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+4 more
GUncertain significance
TNNT2
(Y259C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GUncertain significance
TNNT2
(Y259H +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TNNT2
(K258I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TNNT2
(K253R +5 more)
Single nucleotide variant
(missense variant)
Dilated Cardiomyopathy, Dominant
+11 more
GBenign/Likely benign
TNNT2
(Q251K +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNNT2
(L250P +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+5 more
GUncertain significance
TNNT2
(D249N +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GUncertain significance
TNNT2
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GLikely benign
TNNT2
(F248V +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GUncertain significance
TNNT2
(F248L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
+5 more
GUncertain significance
TNNT2
(E246G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNT2
(A245V +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
TNNT2
(E244D +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TNNT2
(Y241C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GUncertain significance
TNNT2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TNNT2
Deletion
(intron variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
not provided
GLikely benign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(splice donor variant)
not provided
+3 more
GUncertain significance
TNNT2
(L196P +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TNNT2
(Q228E +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
+4 more
GUncertain significance
TNNT2
(E226K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1D
+5 more
GUncertain significance
TNNT2
(I221T +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TNNT2
(A213P +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TNNT2
(K210del +5 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+6 more
GPathogenic/Likely pathogenic
TNNT2
(R205Q +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 2
+4 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(synonymous variant)
not specified
GLikely benign
TNNT2
(R205W +5 more)
Single nucleotide variant
(missense variant)
Primary familial dilated cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TNNT2
(E192G +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TNNT2
Single nucleotide variant
(splice acceptor variant)
not provided
GLikely pathogenic
TNNT2
Single nucleotide variant
(intron variant)
not provided
+4 more
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not specified
+5 more
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not specified
GLikely benign
TNNT2
Single nucleotide variant
(intron variant +1 more)
Hypertrophic cardiomyopathy 2
+7 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Dilated Cardiomyopathy, Dominant
+9 more
GConflicting classifications of pathogenicity
TNNT2
Single nucleotide variant
(intron variant)
Cardiomyopathy, familial restrictive, 3
+4 more
GBenign
TNNT2
Single nucleotide variant
(intron variant)
not provided
GBenign
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