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Items: 2

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, TTN-AS1
(I27340K +5 more)
Single nucleotide variant
(missense variant)
Tibial muscular dystrophy
+2 more
GUncertain significance