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Items: 26

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806424, TTN
+1 more
(G18418D +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806424, TTN
+1 more
(G20059C +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806424, TTN
+1 more
(R18406K +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+4 more
GUncertain significance
LOC126806424, TTN
+1 more
(R17435H +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(D20002G +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+6 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(L17428R +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
TTN-AS1, LOC126806424
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+4 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(V19963A +5 more)
Single nucleotide variant
(missense variant)
not provided
+2 more
GUncertain significance
LOC126806424, TTN
+1 more
(R17391C +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(R17382Q +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(A19938V +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+6 more
GUncertain significance
LOC126806424, TTN
+1 more
(V18245G +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(K19830R +5 more)
Single nucleotide variant
(missense variant)
Hypertrophic cardiomyopathy 9
+7 more
GUncertain significance
LOC126806424, TTN
+1 more
(E17227G +5 more)
Single nucleotide variant
(missense variant)
not provided
GUncertain significance
LOC126806424, TTN
+1 more
(I19787L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+3 more
GUncertain significance
LOC126806424, TTN
+1 more
(P10719fs +5 more)
Deletion
(frameshift variant)
not provided
+3 more
GPathogenic/Likely pathogenic
LOC126806424, TTN
+1 more
Single nucleotide variant
(intron variant)
Cardiovascular phenotype
+9 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(L17213F +5 more)
Single nucleotide variant
(missense variant)
Early-onset myopathy with fatal cardiomyopathy
+5 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
TTN-related condition
+8 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
Cardiovascular phenotype
+8 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(E19773G +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+5 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
Single nucleotide variant
(synonymous variant)
TTN-related condition
+5 more
GConflicting classifications of pathogenicity
LOC126806424, TTN
+1 more
(P19772L +5 more)
Single nucleotide variant
(missense variant)
Cardiovascular phenotype
+7 more
GBenign/Likely benign
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