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Items: 1 to 100 of 1285

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(3 prime UTR variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN-AS1, TTN
(R34348* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(K27023fs +5 more)
Deletion
(frameshift variant)
TTN-related disorder
+9 more
GPathogenic
TTN, TTN-AS1
(I26892F +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(L34312R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(G34292R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
Indel
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GPathogenic
TTN, TTN-AS1
(V35928E +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(E33342K +5 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GUncertain significance
TTN, TTN-AS1
(I26843T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GBenign/Likely benign
TTN, TTN-AS1
Duplication
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GBenign/Likely benign
TTN, TTN-AS1
(Q26795* +5 more)
Single nucleotide variant
(nonsense)
Myopathy, myofibrillar, 9, with early respiratory failure
+7 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(S35855I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(M26778T +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN, TTN-AS1
(S35817L +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P33230S +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(splice donor variant)
Dilated cardiomyopathy 1G
+6 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(splice donor variant)
not provided
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GLikely benign
TTN-AS1, TTN
(R34139H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(A35764S +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+6 more
GUncertain significance
TTN, TTN-AS1
(P34061L +5 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+7 more
GLikely benign
TTN, TTN-AS1
(L26700P +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+5 more
GUncertain significance
TTN, TTN-AS1
(V26571M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
TTN, TTN-AS1
(S35613A +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(K26545E +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(H26525R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(A26479fs +5 more)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 9
+6 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(E26462V +5 more)
Indel
(missense variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(L35468H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(G35463A +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
TTN, TTN-AS1
(P35420S +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+5 more
GUncertain significance
LOC129935182, TTN
+1 more
(K35385T +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
LOC129935182, TTN
+1 more
(T26410fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+6 more
GLikely pathogenic
LOC129935182, TTN
+1 more
(G35340S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
LOC129935183, TTN
+1 more
(T26378S +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
LOC129935183, TTN
+1 more
(E26203K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
LOC129935183, TTN
+1 more
(T26342P +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
LOC129935183, TTN
+1 more
(K35209Q +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GUncertain significance
LOC129935183, TTN
+1 more
(G35197D +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+7 more
GUncertain significance
TTN, TTN-AS1
(Y32573* +5 more)
Single nucleotide variant
(nonsense)
not provided
+6 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(T35139I +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V26191fs +5 more)
Deletion
(frameshift variant)
not provided
+8 more
GLikely pathogenic
TTN-AS1, TTN
(Y32494S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
LOC129935185, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L33388W +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(T33387M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
TTN, TTN-AS1
(R25948H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(R32445C +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TTN, TTN-AS1
(V26056F +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GUncertain significance
TTN, TTN-AS1
(N32410S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN-AS1, TTN
(A32403V +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
TTN, TTN-AS1
(V32397L +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+6 more
GUncertain significance
TTN, TTN-AS1
Indel
(inframe_indel)
Dilated cardiomyopathy 1G
+5 more
GLikely pathogenic
TTN, TTN-AS1
(P34887L +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GUncertain significance
TTN, TTN-AS1
(R25818H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(E25815Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(R34861H +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+7 more
GUncertain significance
TTN, TTN-AS1
(R34859Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+10 more
GBenign/Likely benign
TTN, TTN-AS1
(R34859W +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(L32289P +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GUncertain significance
TTN, TTN-AS1
(R25691T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(R25684W +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(T32173I +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
TTN, TTN-AS1
(T32167M +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
TTN, TTN-AS1
(H34732D +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN, TTN-AS1
(E25780K +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN, TTN-AS1
(E25748Q +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
TTN, TTN-AS1
(D25729N +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GUncertain significance
TTN, TTN-AS1
(I32099T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Indel
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
TTN, TTN-AS1
(Y25582H +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
TTN, TTN-AS1
(R32069Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
TTN, TTN-AS1
(R34636C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TTN, TTN-AS1
(R25737H +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GUncertain significance
TTN, TTN-AS1
(R32028H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(M25515R +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+5 more
GUncertain significance
TTN, TTN-AS1
(Q32009R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GUncertain significance
TTN, TTN-AS1
(A25544P +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN, TTN-AS1
(D25413N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(G34406R +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
TTN, TTN-AS1
(T31825P +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+6 more
GUncertain significance
TTN, TTN-AS1
(Y34331C +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(E25245K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
TTN, TTN-AS1
(K25433del +5 more)
Microsatellite
(inframe_deletion)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(I25216T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(H25155P +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+5 more
GUncertain significance
TTN-AS1, TTN
(V25140L +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TTN, TTN-AS1
(S32424P +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN, TTN-AS1
(I24977T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(E34041K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(D34035E +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+6 more
GUncertain significance
TTN, TTN-AS1
(S34010R +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+5 more
GUncertain significance
TTN, TTN-AS1
(E33959K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GUncertain significance
TTN, TTN-AS1
(S24816* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+6 more
GLikely pathogenic
TTN, TTN-AS1
(V24918D +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
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