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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126806421, TTN
+1 more
(W23061* +5 more)
Single nucleotide variant
(nonsense)
Early-onset myopathy with fatal cardiomyopathy
GLikely pathogenic
TTN
(K12923*)
Single nucleotide variant
(nonsense +1 more)
Early-onset myopathy with fatal cardiomyopathy
GLikely pathogenic