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Items: 5

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
ENO3
(N151S +2 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
+1 more
GUncertain significance
ENO3
(G156D +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GConflicting classifications of pathogenicity
ENO3
(E144K +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GUncertain significance
ENO3
(C314Y +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
GPathogenic
ENO3
(G374E +1 more)
Single nucleotide variant
(missense variant)
Glycogen storage disease due to muscle beta-enolase deficiency
+1 more
GUncertain significance
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