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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKLR
(R459Q +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase hyperactivity
GUncertain significance
PKLR
(L241V +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase deficiency of red cells
+1 more
GConflicting classifications of pathogenicity
PKLR
(G243S +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase deficiency of red cells
GUncertain significance
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