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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKLR
(R510Q +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase deficiency of red cells
+2 more
GPathogenic
PKLR
(R103fs +1 more)
Deletion
(frameshift variant)
Pyruvate kinase deficiency of red cells
+1 more
GPathogenic/Likely pathogenic