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Items: 7

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC129935182, TTN
+1 more
(D32771fs +5 more)
Deletion
(frameshift variant)
not provided
+4 more
GConflicting classifications of pathogenicity
TTN-AS1, TTN
(L27184* +5 more)
Single nucleotide variant
(nonsense)
TTN-related disorder
+3 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(E18573fs +5 more)
Deletion
(frameshift variant)
TTN-related disorder
GLikely pathogenic
TTN, TTN-AS1
(Y14574fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
+1 more
GLikely pathogenic
LOC126806423, TTN
+1 more
Single nucleotide variant
(splice donor variant)
TTN-related disorder
+2 more
GLikely pathogenic
LOC126806425, TTN
+1 more
(K14940fs +5 more)
Deletion
(frameshift variant)
TTN-related disorder
GPathogenic
TTN, TTN-AS1
(R14655* +5 more)
Single nucleotide variant
(nonsense)
TTN-related disorder
+4 more
GPathogenic/Likely pathogenic
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