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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(W34072R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+1 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(I19605T +5 more)
Single nucleotide variant
(missense variant)
Autosomal recessive limb-girdle muscular dystrophy type 2J
GUncertain significance
TTN
(P12815fs)
Duplication
(frameshift variant +1 more)
TTN-related disorder
+3 more
GConflicting classifications of pathogenicity
TTN
(S5573fs +2 more)
Deletion
(frameshift variant +1 more)
Autosomal recessive limb-girdle muscular dystrophy type 2J
GLikely pathogenic
TTN
(Q276*)
Single nucleotide variant
(nonsense)
not provided
+1 more
GLikely pathogenic
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