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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(W16766* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+1 more
GLikely pathogenic
TTN, TTN-AS1
(V11088fs +5 more)
Deletion
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(splice acceptor variant)
Dilated cardiomyopathy 1G
+2 more
GPathogenic/Likely pathogenic
TTN
(E13189del +2 more)
Microsatellite
(inframe_deletion +1 more)
Dilated cardiomyopathy 1G
+1 more
GUncertain significance
TTN
(E10501* +2 more)
Single nucleotide variant
(nonsense +1 more)
Desmin-related myofibrillar myopathy
GLikely pathogenic
TTN
(E3590D +1 more)
Single nucleotide variant
(missense variant +1 more)
TTN-related myopathy
+7 more
GConflicting classifications of pathogenicity
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