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Links from MedGen

Items: 1 to 100 of 1446

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN
(R8711* +2 more)
Single nucleotide variant
(nonsense +1 more)
Hypertrophic cardiomyopathy 9
+3 more
GLikely pathogenic
TTN, TTN-AS1
(F21463C +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
(H25087R +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+2 more
GUncertain significance
TTN
(T6255I +2 more)
Single nucleotide variant
(intron variant +1 more)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
(F18496S +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
(L20395P +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Hypertrophic cardiomyopathy 9
GLikely benign
TTN, TTN-AS1
(V22442A +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(E10487G +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(R7534T +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(P12973R)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(A15805V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(K575N +1 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(D3688Y +4 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(G11818R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
Deletion
(inframe_deletion)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
Deletion
(frameshift variant +1 more)
Tibial muscular dystrophy
+5 more
GLikely pathogenic
TTN, TTN-AS1
(E21826* +5 more)
Single nucleotide variant
(nonsense)
Hypertrophic cardiomyopathy 9
+3 more
GLikely pathogenic
TTN
Deletion
(frameshift variant +1 more)
Hypertrophic cardiomyopathy 9
GLikely pathogenic
TTN, TTN-AS1
(F13081V +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
GUncertain significance
TTN
(T5308I +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN
(K10441E +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN
(E10776K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
(V17700A +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN
(A12830T)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+2 more
GUncertain significance
TTN
(T8518I +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN
(E12117K +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
(N20647K +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
(K15346T +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
LOC126806429, TTN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN
(S7641A +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN
(T210A)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 9
+1 more
GUncertain significance
TTN, TTN-AS1
(Y12353* +5 more)
Insertion
(nonsense)
Hypertrophic cardiomyopathy 9
+5 more
GPathogenic
TTN
(V12841A +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
TTN, TTN-AS1
(H14783Q +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
TTN, TTN-AS1
(D21950H +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GUncertain significance
TTN, TTN-AS1
(T21959I +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
TTN
(E10684K +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
TTN, TTN-AS1
(K10056Q +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
TTN
Single nucleotide variant
(intron variant)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
TTN
(L2718V +1 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
LOC126806425, TTN
+1 more
(H14997fs +5 more)
Deletion
(non-coding transcript variant +1 more)
Hypertrophic cardiomyopathy 9
+5 more
GLikely pathogenic
TTN
(K3716N)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+5 more
GUncertain significance
TTN, TTN-AS1
(I24059T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V20618I +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+2 more
GUncertain significance
TTN, TTN-AS1
(G14691S +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(K23997fs +5 more)
Deletion
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+2 more
GLikely pathogenic
TTN, TTN-AS1
(A12571P +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(P15265S +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(T6533A +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN, TTN-AS1
(K26459N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
LOC126806431, TTN
(G4418D +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+2 more
GUncertain significance
TTN, TTN-AS1
(N12637fs +5 more)
Deletion
(frameshift variant)
Hypertrophic cardiomyopathy 9
GUncertain significance
TTN
(A10341V +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+7 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(E10090del +5 more)
Microsatellite
(inframe_deletion)
Cardiovascular phenotype
+7 more
GUncertain significance
TTN
(N6347S +2 more)
Single nucleotide variant
(missense variant +1 more)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GUncertain significance
TTN, TTN-AS1
(I10613T +5 more)
Single nucleotide variant
(missense variant)
not provided
+7 more
GUncertain significance
LOC126806421, TTN
+1 more
(P23247S +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GUncertain significance
TTN
(M11974T)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+6 more
GUncertain significance
TTN, TTN-AS1
(K26495N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
TTN, TTN-AS1
(K16664* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GLikely pathogenic
TTN
(P12394fs)
Duplication
(frameshift variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GUncertain significance
TTN
(R5218*)
Single nucleotide variant
(nonsense +1 more)
not provided
+6 more
GUncertain significance
TTN, TTN-AS1
(L22111P +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TTN
(S12030fs)
Microsatellite
(frameshift variant +1 more)
not provided
+6 more
GConflicting classifications of pathogenicity
TTN
(I4583fs)
Deletion
(frameshift variant +1 more)
not provided
+6 more
GUncertain significance
TTN, TTN-AS1
(L10682R +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TTN, TTN-AS1
(Y20050H +5 more)
Single nucleotide variant
(missense variant)
not provided
+6 more
GUncertain significance
TTN
Indel
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GUncertain significance
TTN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
LOC126806423, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Tibial muscular dystrophy
+5 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant +1 more)
Tibial muscular dystrophy
+5 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
TTN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
LOC101927055, TTN
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
TTN
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GLikely benign
TTN
Deletion
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GBenign/Likely benign
TTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
TTN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
TTN
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
TTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
TTN, TTN-AS1
Duplication
(intron variant)
Dilated cardiomyopathy 1G
+5 more
GBenign/Likely benign
LOC101927055, TTN
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
TTN
Single nucleotide variant
(intron variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GLikely benign
LOC126806420, TTN
+1 more
Insertion
(intron variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+5 more
GLikely benign
TTN, TTN-AS1
(Q26794* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GPathogenic/Likely pathogenic
TTN
(K6332fs +2 more)
Duplication
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN
(M6353fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GUncertain significance
TTN
(E465*)
Single nucleotide variant
(nonsense)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T11212fs +5 more)
Microsatellite
(non-coding transcript variant +1 more)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GLikely pathogenic
TTN, TTN-AS1
(E25815Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
TTN, TTN-AS1
(L24619V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GUncertain significance
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