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Items: 4

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKLR
(R473C +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase deficiency of red cells
+1 more
GConflicting classifications of pathogenicity
PKLR
(R486W +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase hyperactivity
+3 more
GPathogenic/Likely pathogenic
PKLR
(R479H +1 more)
Single nucleotide variant
(missense variant)
not provided
+1 more
GPathogenic
PKLR
(I231T +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase deficiency of red cells
GUncertain significance
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