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Items: 6

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GAA
Single nucleotide variant
(intron variant)
GAA-related condition
+7 more
GPathogenic/Likely pathogenic
GAA
(E176fs)
Deletion
(frameshift variant)
Glycogen storage disease, type II
GPathogenic
GAA
(G576S)
Single nucleotide variant
(missense variant)
not provided
+3 more
GConflicting classifications of pathogenicity; other
GAA
(D645E)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type II
GPathogenic
GAA
Deletion
(splice donor variant)
Glycogen storage disease, type II
GPathogenic
GAA
(R854*)
Single nucleotide variant
(nonsense)
Glycogen storage disease, type II
GPathogenic
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