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Items: 1 to 100 of 378

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(G35967E +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
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R35652Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(T35596I +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(I35540T +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(K35513E +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+9 more
GBenign/Likely benign
LOC129935182, TTN
+1 more
(A33737V +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(A35263V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(A35263S +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(E35257K +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
LOC129935183, TTN
+1 more
(R32672Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
LOC129935184, TTN
+1 more
(S35172del +5 more)
Deletion
(inframe_deletion)
See cases
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(V35031M +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R34859Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+10 more
GBenign/Likely benign
TTN, TTN-AS1
(V34854L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(M34793L +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(A32186V +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+7 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(A34751P +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+9 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(V34563A +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R34455C +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T34431M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(I34199V +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R25053Q +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+3 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
TTN, TTN-AS1
(R33964H +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+9 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(I33935V +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(Q33922H +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(V33889I +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(R33738C +5 more)
Single nucleotide variant
(missense variant)
TTN-related myopathy
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(G33550D +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GUncertain significance
TTN, TTN-AS1
(P33487S +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GBenign/Likely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
LOC126806420, TTN
+1 more
Deletion
(intron variant)
not provided
+2 more
GLikely benign
LOC126806420, TTN
+1 more
(R33365Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GBenign/Likely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC126806420, TTN
+1 more
(E33301K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L30634P +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T33112K +5 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
TTN, TTN-AS1
(S31346F +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(S31346P +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(M30388V +5 more)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+9 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(R32936C +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Cardiovascular phenotype
+4 more
GUncertain significance
TTN, TTN-AS1
(V32909A +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant +1 more)
not specified
+8 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(N32797S +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant +1 more)
not provided
GLikely benign
TTN, TTN-AS1
(R23702fs +4 more)
Deletion
(frameshift variant +1 more)
Dilated cardiomyopathy 1G
+6 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(A32765G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R32748C +5 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TTN, TTN-AS1
(R32587P +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R32587H +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+7 more
GBenign/Likely benign
TTN, TTN-AS1
(R23515K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(I29929T +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(G29818R +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R32352H +4 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L23282fs +5 more)
Deletion
(frameshift variant)
not provided
GLikely pathogenic
LOC126806421, TTN
+1 more
(T32315I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LOC126806421, TTN
+1 more
(I32071R +5 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
LOC126806421, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(V30365M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L31852P +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(N22721S +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
TTN, TTN-AS1
(S31766F +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+9 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, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(D31679N +5 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GBenign/Likely benign
TTN, TTN-AS1
(D31617E +5 more)
Single nucleotide variant
(missense variant)
not specified
+9 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(M22437K +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
TTN, TTN-AS1
(E22431K +5 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
TTN, TTN-AS1
(R28860H +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P28826fs +5 more)
Insertion
(frameshift variant)
not specified
GLikely pathogenic
TTN-AS1, TTN
(K22328fs +5 more)
Insertion
(frameshift variant)
not specified
GLikely pathogenic
TTN, TTN-AS1
(R31349H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+9 more
GBenign/Likely benign
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
Single nucleotide variant
(synonymous variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+7 more
GBenign/Likely benign
TTN, TTN-AS1
(R31072H +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R21982Q +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
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