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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
TPM3
(M245V +1 more)
Single nucleotide variant
(intron variant +1 more)
Congenital myopathy with fiber type disproportion
+1 more
GUncertain significance
TPM3
(E3G)
Single nucleotide variant
(missense variant +1 more)
Congenital myopathy 4B, autosomal recessive
GUncertain significance