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Items: 18

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806427, TTN
(A15200G +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+8 more
GBenign/Likely benign
LOC126806427, TTN
(V15167I +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
+3 more
GLikely benign
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Cardiomyopathy
GLikely benign
LOC126806427, TTN
(K15136N +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(D15110N +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+9 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Tibial muscular dystrophy
+9 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(R12515W +5 more)
Single nucleotide variant
(missense variant)
TTN-related disorder
+4 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(E15069V +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+8 more
GBenign/Likely benign
LOC126806427, TTN
(A15059T +5 more)
Single nucleotide variant
(missense variant)
Cardiomyopathy
+9 more
GBenign/Likely benign
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Early-onset myopathy with fatal cardiomyopathy
+8 more
GBenign/Likely benign
LOC126806427, TTN
(I12480T +5 more)
Single nucleotide variant
(missense variant)
not specified
+1 more
GUncertain significance
LOC126806427, TTN
(I12472M +5 more)
Single nucleotide variant
(missense variant)
not provided
+8 more
GBenign/Likely benign
LOC126806427, TTN
(E12462del +5 more)
Deletion
(splice acceptor variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126806427, TTN
Single nucleotide variant
(intron variant)
Cardiomyopathy
+7 more
GBenign/Likely benign
LOC126806427, TTN
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
LOC126806427, TTN
(L14998P +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+2 more
GUncertain significance
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