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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MEGF10
(R174W)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GUncertain significance
MEGF10
(W520fs)
Deletion
(frameshift variant)
MEGF10-related myopathy
GPathogenic
MEGF10
(A726T)
Single nucleotide variant
(missense variant)
MEGF10-related myopathy
GConflicting classifications of pathogenicity
MEGF10
(R1056*)
Single nucleotide variant
(nonsense)
MEGF10-related myopathy
+1 more
GConflicting classifications of pathogenicity
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