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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
GBE1
(L622del)
Microsatellite
(inframe_deletion)
Glycogen storage disease, type IV
GPathogenic
GBE1
(A259G)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type IV
GUncertain significance