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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PHKG2
(E77K)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXc
GConflicting classifications of pathogenicity
PHKG2
(L144P)
Single nucleotide variant
(missense variant)
Glycogen storage disease IXc
GConflicting classifications of pathogenicity