ClinVar for MedGen (Select 766521) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2627541	NM_016098.4(MPC1):c.274C>G (p.Leu92Val)	MPC1 (L49V +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GUncertain significance
Select item 1299296	NM_016098.4(MPC1):c.109C>T (p.Pro37Ser)	MPC1 (P37S)	Single nucleotide variant (5 prime UTR variant +2 more)	Mitochondrial pyruvate carrier deficiency	GLikely pathogenic
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
Select item 1029576	NM_016098.4(MPC1):c.220C>A (p.Gln74Lys)	MPC1 (Q74K +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GUncertain significance
Select item 488547	NM_016098.4(MPC1):c.214A>G (p.Lys72Glu)	MPC1 (K72E +1 more)	Single nucleotide variant (missense variant +2 more)	Mitochondrial pyruvate carrier deficiency	GLikely pathogenic
Select item 35562	NM_016098.4(MPC1):c.236T>A (p.Leu79His)	MPC1 (L79H +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial pyruvate carrier deficiency	GPathogenic
Select item 35561	NM_016098.4(MPC1):c.289C>T (p.Arg97Trp)	MPC1 (R97W +1 more)	Single nucleotide variant (missense variant +1 more)	Mitochondrial pyruvate carrier deficiency	GPathogenic