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Items: 1 to 100 of 1229

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GLikely benign
TTN, TTN-AS1
(F27072I +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
(C35918Y +5 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+3 more
GLikely benign
TTN, TTN-AS1
(S26842R +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(I26834T +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(M35859T +5 more)
Single nucleotide variant
(missense variant)
Primary dilated cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(S35817L +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(R34139H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
TTN, TTN-AS1
(P35708L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
TTN, TTN-AS1
(S35695G +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+1 more
GUncertain significance
TTN, TTN-AS1
(S34027R +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TTN, TTN-AS1
(I35664V +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GUncertain significance
TTN, TTN-AS1
(R35652Q +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(W33997C +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GUncertain significance
TTN, TTN-AS1
(G26556A +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(A33039V +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T35596I +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T26529N +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E32991Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GBenign/Likely benign
TTN-AS1, TTN
(I35540T +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
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)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+9 more
GBenign/Likely benign
TTN-AS1, TTN
(Y32922H +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(K32913R +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(H35480R +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
TTN, TTN-AS1
(I26482fs +5 more)
Duplication
(frameshift variant)
Cardiomyopathy
GUncertain significance
TTN, TTN-AS1
(R26533T +5 more)
Single nucleotide variant
(missense variant)
not specified
+3 more
GUncertain significance
LOC129935182, TTN
+1 more
(T32799M +5 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
LOC129935182, TTN
+1 more
(N35348K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+4 more
GConflicting classifications of pathogenicity
LOC129935182, TTN
+1 more
(D32771fs +5 more)
Deletion
(frameshift variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(A33673T +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(E35299D +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(A26198F +4 more)
Indel
(missense variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(A35263V +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(A35263S +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
LOC129935184, TTN
+1 more
(V35177M +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
LOC129935184, TTN
+1 more
(S35172del +5 more)
Deletion
(inframe_deletion)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T33520N +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
not provided
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(P26091R +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GLikely benign
TTN, TTN-AS1
(E26077K +5 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E32513K +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R35043C +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
TTN-related disorder
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(G34979A +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E32404K +5 more)
Single nucleotide variant
(missense variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
TTN, TTN-AS1
(P33313A +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TTN, TTN-AS1
(E32357A +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(R32330S +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
(R34859Q +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+10 more
GBenign/Likely benign
TTN, TTN-AS1
(S32287Y +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V34854L +5 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R33199Q +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R25775W +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R34839* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GLikely pathogenic
TTN, TTN-AS1
(H25759R +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(M34793L +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L32215F +5 more)
Single nucleotide variant
(missense variant)
TTN-related disorder
+10 more
GBenign/Likely benign
TTN, TTN-AS1
(E33131G +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+3 more
GUncertain significance
TTN, TTN-AS1
(R25696Q +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+2 more
GLikely benign
TTN, TTN-AS1
(A32186V +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(A34751P +5 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R33082I +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
TTN-AS1, TTN
(P34700S +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
TTN, TTN-AS1
(I32099T +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+9 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(R34649Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R32052H +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Y25550* +5 more)
Single nucleotide variant
(nonsense)
Cardiomyopathy
+3 more
GLikely pathogenic
TTN, TTN-AS1
(Q32009R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GUncertain significance
TTN-AS1, TTN
(V34563A +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(K32919R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GBenign/Likely benign
TTN, TTN-AS1
(E25545D +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E25403K +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
GUncertain significance
TTN, TTN-AS1
(R34455H +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GUncertain significance
TTN, TTN-AS1
(R34455C +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 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
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