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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806422, TTN
+1 more
(E14274fs +5 more)
Deletion
(frameshift variant)
Dilated cardiomyopathy 1G
GLikely pathogenic
TTN, TTN-AS1
(I19562V +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
+6 more
GUncertain significance
TTN, TTN-AS1
(E18008fs +5 more)
Insertion
(non-coding transcript variant +1 more)
Dilated cardiomyopathy 1G
+1 more
GLikely pathogenic
TTN, TTN-AS1
Single nucleotide variant
(intron variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
Duplication
(nonsense)
Cardiovascular phenotype
+3 more
GLikely pathogenic
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