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Items: 1 to 100 of 406

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(C35918Y +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P26831L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
TTN, TTN-AS1
(G33323S +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(S34198R +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E35796A +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(splice donor variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(I35664V +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
(R35652Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(W33997C +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
(E26526K +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(E32991Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(V35253M +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(A32678G +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(V35203A +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC129935184, TTN
+1 more
(S35172del +5 more)
Deletion
(inframe_deletion)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LOC129935185, TTN
+1 more
(D35045V +5 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TTN, TTN-AS1
(E34984D +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GUncertain significance
TTN, TTN-AS1
(S25885L +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(P34887L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(E33228K +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R34861H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
TTN, TTN-AS1
(R32273H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R33164Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R25735fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(D25660A +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(E32109D +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(R25531C +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(V34563A +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V34563M +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
(I31985T +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V34473I +4 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E25514fs +5 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+12 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T34431M +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(M34251K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
TTN, TTN-AS1
(M31683V +5 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(C25144Y +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
TTN, TTN-AS1
(A25080T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
TTN, TTN-AS1
(I34133T +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GUncertain significance
TTN, TTN-AS1
(R34110P +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(A34064T +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R34061H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
TTN, TTN-AS1
(E34041K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN-AS1, TTN
(L34009F +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(R33964S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R31373T +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
(K24778N +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GUncertain significance
TTN-AS1, TTN
(R31193W +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R24638Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(G33550D +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
(G33473S +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V30899G +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(R30864H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(C33331R +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(W33322C +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(E33301K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R30536C +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(S23922L +5 more)
Indel
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(S30347G +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(A30274T +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
+3 more
GUncertain significance
TTN-AS1, TTN
(D30254G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(D32822N +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(R29926H +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R23408C +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GUncertain significance
TTN, TTN-AS1
(P29832T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R32367C +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E29783K +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
TTN-AS1, TTN
(I32330T +4 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(P23247S +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
LOC126806421, TTN
+1 more
(D30572N +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(R23205H +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
LOC126806421, TTN
+1 more
(R29490W +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(P31906A +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(R22716* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(K29206E +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(I29189T +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(I29727fs +5 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R28781C +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(I28657T +5 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
TTN, TTN-AS1
(R29534H +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(S28434I +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(D30928H +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(D21841N +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TTN-AS1, TTN
(R28327Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Q21947* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+3 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(T30778R +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(A30681D +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V21549fs +5 more)
Duplication
(frameshift variant)
Primary dilated cardiomyopathy
+5 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(G30541R +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E30478D +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(P28690S +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(I21155fs +5 more)
Deletion
(frameshift variant)
not provided
+2 more
GLikely pathogenic
TTN, TTN-AS1
(A20788fs +5 more)
Deletion
(frameshift variant)
not provided
+2 more
GLikely pathogenic
TTN, TTN-AS1
(A20786D +5 more)
Single nucleotide variant
(missense variant)
TTN-related disorder
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R29809Q +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(A27176T +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(splice donor variant)
not provided
+4 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R27105Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(S28008L +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GUncertain significance
TTN, TTN-AS1
(I29371T +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(G29364S +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
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