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Items: 1 to 100 of 12046

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
(E12861* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN
(N12858Y +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
(Y12856* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
(K12850fs +5 more)
Microsatellite
(frameshift variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
TTN
(Q15413* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
TTN
(C12844* +5 more)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN
(C12844Y +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
(S12843del +5 more)
Deletion
(inframe_deletion)
Cardiovascular phenotype
GUncertain significance
TTN
(V12841A +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+5 more
GUncertain significance
TTN
(V12841I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TTN
(A15408T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
(D12838N +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TTN
(E15404G +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(T13762I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
(V15402A +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN
(T15401fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
(Q6460fs +5 more)
Insertion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TTN
(T12823I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+4 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GLikely benign
TTN
(P15390L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN
(A6516V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TTN
(A6324fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN
(I15387T +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GUncertain significance
TTN
(I12819L +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
TTN
(L12816V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTN
(E13742Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(V12813fs +5 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
TTN
(V15381A +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GBenign/Likely benign
TTN
(S12812C +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
TTN
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
TTN
(C12795fs +5 more)
Microsatellite
(frameshift variant)
Cardiomyopathy
GLikely pathogenic
TTN
(I12792T +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+1 more
GConflicting classifications of pathogenicity
TTN
(M6484fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
TTN
(K15355N +5 more)
Single nucleotide variant
(missense variant)
Limb-girdle muscular dystrophy, recessive
+10 more
GConflicting classifications of pathogenicity
TTN
(Y12786C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+2 more
GUncertain significance
TTN
(D12784G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(R12782* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy
+5 more
GUncertain significance
TTN
(V12779G +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GLikely benign
TTN
(R12778H +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN
(R15346C +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(E12772del +5 more)
Microsatellite
(inframe_deletion)
not provided
GUncertain significance
TTN
(E6467fs +5 more)
Duplication
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
TTN
(N6272fs +5 more)
Deletion
(frameshift variant)
not provided
GUncertain significance
TTN
(N12769I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN
(T12763fs +5 more)
Duplication
(frameshift variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN
(N15329S +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
TTN
(R15327H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+1 more
GUncertain significance
TTN
(R12759C +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GConflicting classifications of pathogenicity
TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GLikely benign
TTN
(N12758S +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
(N12758I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
not specified
GBenign
TTN
(K12756* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN
(W12754* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN
(W12754C +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
TTN
(M6249I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+4 more
GUncertain significance
TTN
(M12746V +5 more)
Single nucleotide variant
(missense variant)
not specified
GUncertain significance
TTN
(M15314L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(I12743T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
GUncertain significance
TTN
(E15306K +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN
(E6234D +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
GUncertain significance
TTN
Single nucleotide variant
(splice acceptor variant)
Hypertrophic cardiomyopathy 9
GPathogenic
TTN
Single nucleotide variant
(splice acceptor variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TTN
Deletion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
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