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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PC
(H769L)
Single nucleotide variant
(missense variant)
Congenital lactic acidosis
GPathogenic
PC
(R77W)
Single nucleotide variant
(missense variant)
Pyruvate carboxylase deficiency
+1 more
GUncertain significance