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Items: 1 to 100 of 125

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
CHROMR, FKBP7
+17 more
Duplication
Dystonia 16
GUncertain significance
LOC129935186, LOC126806420
+7 more
Deletion
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(I24518fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(N24583fs +5 more)
Insertion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(L24584fs +5 more)
Insertion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(N24391fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
(R31807* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
LOC126806420, TTN
+1 more
(V30874fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806420, TTN
+1 more
(R30864H +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+3 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+4 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806420, TTN
+1 more
(P33415L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GUncertain significance
LOC126806420, TTN
+1 more
(V30842fs +5 more)
Microsatellite
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(C30841Y +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
(I33401fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(T33402A +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806420, TTN
+1 more
(K33398N +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(splice acceptor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+2 more
GUncertain significance
LOC126806420, TTN
+1 more
Deletion
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Duplication
(intron variant)
Tibial muscular dystrophy
+10 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Deletion
(intron variant)
not provided
+2 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Insertion
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+5 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Deletion
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
not provided
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Insertion
(splice donor variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Deletion
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
TTN-AS1, LOC126806420
+1 more
(S33388N +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GUncertain significance
LOC126806420, TTN
+1 more
(S24515fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(I24512fs +5 more)
Duplication
(frameshift variant)
not provided
+3 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(E24506* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(L33378R +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
(G33373S +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(T24306fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(Q33369* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(V33366I +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+7 more
GBenign/Likely benign
LOC126806420, TTN
+1 more
(R33365Q +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+7 more
GBenign/Likely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
(V33354L +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
LOC126806420, TTN
+1 more
(I24288T +5 more)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity
TTN-AS1, LOC126806420
+1 more
(T33350I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+4 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
not specified
+2 more
GLikely benign
LOC126806420, TTN
+1 more
(S31703fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(L31700fs +5 more)
Duplication
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
TTN-AS1, LOC126806420
+1 more
(Q33340K +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(C33331R +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+8 more
GBenign/Likely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806420, TTN
+1 more
(A31675T +5 more)
Single nucleotide variant
(missense variant)
not specified
+4 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
LOC126806420, TTN
+1 more
(W24372* +5 more)
Single nucleotide variant
(nonsense)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+2 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806420, TTN
+1 more
(L24239fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(K33305E +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+2 more
GLikely benign
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely benign
LOC126806420, TTN
+1 more
(E33301K +5 more)
Single nucleotide variant
(missense variant)
not provided
+9 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+1 more
GLikely benign
LOC126806420, TTN
+1 more
(D24227fs +5 more)
Deletion
(frameshift variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+2 more
GPathogenic/Likely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Tibial muscular dystrophy
+6 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+1 more
GBenign
LOC126806420, TTN
+1 more
Single nucleotide variant
(intron variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Single nucleotide variant
(splice donor variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
(I33287M +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
Insertion
(nonsense)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
LOC126806420, TTN
+1 more
Single nucleotide variant
(non-coding transcript variant +1 more)
not provided
+3 more
GConflicting classifications of pathogenicity
LOC126806420, TTN
+1 more
(V33279G +5 more)
Single nucleotide variant
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
LOC126806420, TTN
+1 more
(G33277E +5 more)
Single nucleotide variant
(missense variant +1 more)
Tibial muscular dystrophy
+10 more
GConflicting classifications of pathogenicity
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