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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PYGM
(G617fs +1 more)
Deletion
(frameshift variant)
Glycogen storage disease, type V
GPathogenic
PYGM
(L36R)
Single nucleotide variant
(missense variant)
Glycogen storage disease, type V
GConflicting classifications of pathogenicity