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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
PC
(K1103fs)
Duplication
(frameshift variant)
Pyruvate carboxylase deficiency
GLikely pathogenic
PC
(R626Q)
Single nucleotide variant
(missense variant)
Pyruvate carboxylase deficiency
GUncertain significance