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Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1G
+2 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(P5893R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806428, TTN
Single nucleotide variant
(intron variant)
TTN-related condition
+7 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(A7122T +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(V7098I +2 more)
Single nucleotide variant
(missense variant +1 more)
Early-onset myopathy with fatal cardiomyopathy
+6 more
GUncertain significance
LOC126806428, TTN
(N5853K +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+3 more
GUncertain significance
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1G
+5 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(Y5846C +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
LOC126806428, TTN
(K6749R +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+4 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(G7058D +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+7 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(G5811W +2 more)
Single nucleotide variant
(missense variant +1 more)
Hypertrophic cardiomyopathy 9
+7 more
GUncertain significance
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+7 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(R7048* +2 more)
Single nucleotide variant
(nonsense +1 more)
Primary dilated cardiomyopathy
+3 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(V5791I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
not provided
GUncertain significance
LOC126806428, TTN
(T5773I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
GUncertain significance
LOC126806428, TTN
(A7015V +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC126806428, TTN
(I7007F +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+7 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(K6684R +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(V5717del +2 more)
Deletion
(inframe_deletion +1 more)
not provided
GUncertain significance
LOC126806428, TTN
Single nucleotide variant
(intron variant)
not specified
+1 more
GUncertain significance
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