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Links from Gene

Items: 1 to 100 of 252

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806425, TTN
+1 more
(W15048fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GLikely pathogenic
LOC126806425, TTN
+1 more
(F15027V +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
TTN-AS1, LOC126806425
+1 more
(G17681* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
(E17728* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
(P8528fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
(V15155A +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(splice donor variant)
Cardiomyopathy
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806425, TTN
+1 more
(K14940fs +5 more)
Deletion
(frameshift variant)
TTN-Related Disorders
GPathogenic
LOC126806422, LOC126806423
+7 more
Copy number loss
Dilated cardiomyopathy 1G
GPathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
LOC126806425, TTN
+1 more
(L14955fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
LOC126806425, TTN
+1 more
(Y15061C +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806425, TTN
+1 more
(H14997fs +5 more)
Deletion
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 9
+5 more
GLikely pathogenic
TTN-AS1, LOC126806425
+1 more
(I15033T +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
(Y14972C +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
GUncertain significance
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
LOC126806425, TTN
+1 more
(A15103fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
(W8845* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
(R17518fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN-AS1, LOC126806425
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
(W17516fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
(Y14972fs +5 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
(L14967* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
(W15022* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GLikely benign
LOC126806425, TTN
+1 more
(V8736fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GLikely pathogenic
LOC126806425, TTN
+1 more
(A8709T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LOC126806425, TTN
+1 more
(R16002L +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
LOC126806425, TTN
+1 more
(E17600K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
GUncertain significance
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
GBenign
LOC126806425, TTN
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806425, TTN
+1 more
(A15118P +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
TTN-AS1, LOC126806425
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806425, TTN
+1 more
(W15975* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
(K15204fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
(W8650fs +5 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
(Q8594* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+2 more
GLikely pathogenic
LOC126806425, TTN
+1 more
(V14943L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
LOC126806425, TTN
+1 more
(V14963A +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
(V14943I +5 more)
Single nucleotide variant
(missense variant)
TTN-Related Disorders
GUncertain significance
LOC126806425, TTN
+1 more
(D14992V +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
LOC126806425, TTN
+1 more
(R15075Q +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
(N15028S +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
(T15016I +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
(R15168Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
LOC126806425, TTN
+1 more
(R15067* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+2 more
GLikely pathogenic
LOC126806425, TTN
+1 more
(N15028K +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not provided
GLikely benign
LOC126806425, TTN
+1 more
(H14947N +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806425, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
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