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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(R34121* +5 more)
Single nucleotide variant
(nonsense)
Left ventricular noncompaction cardiomyopathy
+3 more
GLikely pathogenic
TTN, TTN-AS1
(E25514fs +5 more)
Deletion
(frameshift variant)
Cardiovascular phenotype
+12 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(A19691fs +5 more)
Deletion
(frameshift variant)
Primary dilated cardiomyopathy
GLikely pathogenic
TTN, TTN-AS1
(Q21986* +5 more)
Single nucleotide variant
(nonsense)
Dilated cardiomyopathy 1G
+2 more
GLikely pathogenic
LOC126806423, TTN
+1 more
Insertion
(splice donor variant)
Dilated cardiomyopathy 1G
+3 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(R21201* +5 more)
Single nucleotide variant
(nonsense)
Early-onset myopathy with fatal cardiomyopathy
+10 more
GPathogenic/Likely pathogenic
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