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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
DNM2
(E368K)
Single nucleotide variant
(missense variant)
not provided
+4 more
GPathogenic
DNM2
(D610N +1 more)
Single nucleotide variant
(missense variant)
Autosomal dominant centronuclear myopathy
GLikely pathogenic