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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(E25514fs +5 more)
Deletion
(frameshift variant)
Proximal lower limb amyotrophy
+12 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(C31712R +5 more)
Single nucleotide variant
(missense variant)
Dilated cardiomyopathy 1G
+5 more
GPathogenic/Likely pathogenic
TTN, TTN-AS1
(R23868* +5 more)
Single nucleotide variant
(nonsense)
Primary dilated cardiomyopathy
+10 more
GPathogenic/Likely pathogenic
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