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Items: 12

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806428, TTN
(A7122T +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+7 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(T6776A +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
Cardiomyopathy
+4 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
Single nucleotide variant
(synonymous variant +1 more)
Tibial muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(R6731L +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GUncertain significance
LOC126806428, TTN
(D7036N +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiovascular phenotype
+8 more
GBenign/Likely benign
LOC126806428, TTN
(V5791I +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+1 more
GUncertain significance
LOC126806428, TTN
(A7015V +2 more)
Single nucleotide variant
(missense variant +1 more)
not provided
+8 more
GBenign/Likely benign
LOC126806428, TTN
(I7007F +2 more)
Single nucleotide variant
(missense variant +1 more)
Tibial muscular dystrophy
+7 more
GConflicting classifications of pathogenicity
LOC126806428, TTN
(K5726Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
GLikely benign
LOC126806428, TTN
(C5725S +2 more)
Single nucleotide variant
(missense variant +1 more)
not specified
+1 more
GUncertain significance
LOC126806428, TTN
(T6964M +2 more)
Single nucleotide variant
(missense variant +1 more)
Cardiomyopathy
+6 more
GConflicting classifications of pathogenicity
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