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Items: 3

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PKLR
(R518S +1 more)
Single nucleotide variant
(missense variant)
not provided
GConflicting classifications of pathogenicity
PKLR
(R510Q +1 more)
Single nucleotide variant
(missense variant)
PKLR-related condition
+2 more
GPathogenic
PKLR
(R486W +1 more)
Single nucleotide variant
(missense variant)
Pyruvate kinase hyperactivity
+3 more
GPathogenic/Likely pathogenic
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