C3553607[trait identifier] AND "Department of Neurology, Beijing Child - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1236163	NM_016098.4(MPC1):c.290G>A (p.Arg97Gln)	MPC1 (R54Q +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GLikely pathogenic
Select item 1236162	NM_016098.4(MPC1):c.208G>A (p.Ala70Thr)	MPC1 (A27T +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GLikely pathogenic