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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAA
Single nucleotide variant
(synonymous variant)
Glycogen storage disease, type II
+2 more
GConflicting classifications of pathogenicity
GAA
(R463Q)
Single nucleotide variant
(missense variant)
not provided
+1 more
GUncertain significance
GAA
(G643R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
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