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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TTN, TTN-AS1
(P18509S +5 more)
Single nucleotide variant
(missense variant)
Myopathy, myofibrillar, 9, with early respiratory failure
GUncertain significance
TTN
(E10206Q +2 more)
Single nucleotide variant
(missense variant +1 more)
Dilated cardiomyopathy 1G
+7 more
GUncertain significance
TTN
(S696fs +1 more)
Deletion
(frameshift variant)
Myopathy, myofibrillar, 9, with early respiratory failure
GLikely pathogenic
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