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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBE1
(T254A)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+4 more
GConflicting classifications of pathogenicity
GBE1
(Q236H)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
+3 more
GPathogenic/Likely pathogenic
GBE1
Single nucleotide variant
(splice donor variant)
not provided
+6 more
GPathogenic
GAA
Single nucleotide variant
(intron variant)
Myopathy
+6 more
GPathogenic/Likely pathogenic
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