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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(Q34238* +5 more)
Single nucleotide variant
(nonsense)
Early-onset myopathy with fatal cardiomyopathy
+14 more
GConflicting classifications of pathogenicity
TTN, TTN-AS1
(N26653fs +5 more)
Duplication
(frameshift variant)
Early-onset myopathy with fatal cardiomyopathy
GLikely pathogenic
TTN, TTN-AS1
(R23868* +5 more)
Single nucleotide variant
(nonsense)
Cardiovascular phenotype
+10 more
GPathogenic/Likely pathogenic
TTN
(I1097fs +1 more)
Duplication
(frameshift variant)
Early-onset myopathy with fatal cardiomyopathy
GLikely pathogenic
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