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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TNNT1
(R249C +2 more)
Single nucleotide variant
(missense variant)
Nemaline myopathy 5
GUncertain significance
TNNT1
Single nucleotide variant
(intron variant)
Nemaline myopathy 5
GUncertain significance
TNNI3, TNNT1
Copy number loss
Nemaline myopathy 5
GPathogenic
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