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Items: 1 to 100 of 990

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PLEKHA3, TTN
Single nucleotide variant
(intron variant)
TTN-related condition
GLikely benign
TTN, TTN-AS1
(K27023fs +5 more)
Deletion
(frameshift variant)
not provided
+9 more
GPathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
TTN-related condition
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(C35918Y +5 more)
Single nucleotide variant
(missense variant)
not specified
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+9 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
TTN-related condition
GLikely benign
TTN, TTN-AS1
(S26817fs +5 more)
Deletion
(frameshift variant)
not provided
+3 more
GLikely pathogenic
TTN, TTN-AS1
(N26811fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(M35859T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E33129Q +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R33102T +5 more)
Single nucleotide variant
(missense variant)
not specified
+2 more
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L33058V +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(I33041M +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(Q26533E +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+2 more
GUncertain significance
TTN, TTN-AS1
(E32991Q +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E35527V +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T26385S +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
TTN-related condition
GLikely benign
LOC129935182, TTN
+1 more
(S26322fs +5 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1G
+2 more
GLikely pathogenic
LOC129935182, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
LOC129935182, TTN
+1 more
(A33737V +5 more)
Single nucleotide variant
(missense variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC129935182, TTN
+1 more
(L35349I +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+2 more
GUncertain significance
LOC129935183, TTN
+1 more
(V35307A +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+3 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GLikely benign
LOC129935183, TTN
+1 more
(R32672Q +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
LOC129935183, TTN
+1 more
(I35218T +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P26093K +5 more)
Indel
(missense variant)
TTN-related condition
GUncertain significance
TTN, TTN-AS1
(T35087M +5 more)
Single nucleotide variant
(missense variant)
not specified
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R26015S +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
GUncertain significance
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(S32503C +5 more)
Single nucleotide variant
(missense variant)
not specified
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T33387M +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+6 more
GUncertain significance
TTN, TTN-AS1
(G34979A +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P25889fs +5 more)
Deletion
(frameshift variant)
TTN-related condition
+2 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
TTN-related condition
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(V34854L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(E34789K +5 more)
Single nucleotide variant
(missense variant)
not specified
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(L32215F +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+10 more
GBenign/Likely benign
TTN, TTN-AS1
(R25821W +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GUncertain significance
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, TTN-AS1
Single nucleotide variant
(synonymous variant)
not specified
+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-AS1, TTN
(R31903Q +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
TTN-related condition
+2 more
GLikely benign
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
TTN-related condition
+4 more
GLikely benign
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+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
(I34133T +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GUncertain significance
TTN, TTN-AS1
(R25053Q +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+2 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R31523W +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+11 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+3 more
GLikely benign
TTN, TTN-AS1
(I24977T +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
+6 more
GUncertain significance
TTN, TTN-AS1
(P33979R +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R31396C +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+1 more
GUncertain significance
TTN-AS1, TTN
(R31335H +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+9 more
GBenign/Likely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
TTN-related condition
+3 more
GLikely benign
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+5 more
GLikely benign
TTN, TTN-AS1
(R31093K +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+5 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T24658fs +5 more)
Insertion
(frameshift variant)
TTN-related condition
+2 more
GLikely pathogenic
TTN, TTN-AS1
(W31888* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+8 more
GPathogenic/Likely pathogenic
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
TTN-related condition
GLikely benign
LOC126806420, TTN
+1 more
Duplication
(intron variant)
Dilated Cardiomyopathy, Dominant
+11 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
TTN-related condition
GLikely benign
LOC126806420, TTN
+1 more
(A31675T +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
+4 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(E33301K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+10 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+4 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
TTN-related condition
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(R33085H +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(K30453fs +5 more)
Deletion
(non-coding transcript variant +1 more)
TTN-related condition
+4 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
TTN-related condition
+2 more
GLikely benign
TTN, TTN-AS1
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
(S23922L +5 more)
Indel
(non-coding transcript variant +1 more)
not provided
+9 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, TTN-AS1
(K32937E +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
TTN-related condition
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Single nucleotide variant
(non-coding transcript variant +1 more)
Tibial muscular dystrophy
+7 more
GBenign/Likely benign
TTN, TTN-AS1
(V32906I +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(P30313S +5 more)
Single nucleotide variant
(missense variant +1 more)
Myopathy, myofibrillar, 9, with early respiratory failure
+8 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(I23813R +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
TTN-related condition
GUncertain significance
TTN, TTN-AS1
(A32765G +5 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+10 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(T30188I +5 more)
Single nucleotide variant
(missense variant +1 more)
TTN-related condition
+8 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
(non-coding transcript variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GLikely benign
TTN, TTN-AS1
(V23753fs +5 more)
Deletion
(frameshift variant)
TTN-related condition
+2 more
GLikely pathogenic
TTN, TTN-AS1
(R23785* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+4 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(synonymous variant)
not provided
+3 more
GLikely benign
TTN, TTN-AS1
(R23477T +5 more)
Single nucleotide variant
(missense variant)
TTN-related condition
GUncertain significance
TTN-AS1, TTN
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GBenign/Likely benign
TTN, TTN-AS1
(S23544fs +5 more)
Microsatellite
(non-coding transcript variant +1 more)
TTN-related condition
+2 more
GLikely pathogenic
TTN, TTN-AS1
(S30775L +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+11 more
GConflicting classifications of pathogenicity
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