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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKLR
(R488Q +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase deficiency of red cells
+2 more
GConflicting classifications of pathogenicity
PKLR
Single nucleotide variant
(splice acceptor variant)
Pyruvate kinase deficiency of red cells
GPathogenic