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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MYH7
(N1824S)
Single nucleotide variant
(missense variant)
See cases
+6 more
GUncertain significance
MYH7
(N1824D)
Single nucleotide variant
(missense variant)
Congenital myopathy with fiber type disproportion
+6 more
GUncertain significance