"OMIM"[submitter] AND "PC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2102	NM_001040716.2(PC):c.2876dup (p.Glu961fs)	PC (E961fs)	Duplication (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 556347	NM_001040716.2(PC):c.2493_2494del (p.Val831_Phe832insTer)	PC	Microsatellite (frameshift variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2095	NM_001040716.2(PC):c.2229G>T (p.Met743Ile)	PC (M743I)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2094	NM_001040716.2(PC):c.1828G>A (p.Ala610Thr)	PC (A610T)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2098	NM_001040716.2(PC):c.1825+2_1825+5del	PC	Deletion (splice donor variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2101	NM_001040716.2(PC):c.1748G>T (p.Arg583Leu)	PC (R583L)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GPathogenic
Select item 2097	NM_001040716.2(PC):c.1351C>T (p.Arg451Cys)	PC (R451C)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GLikely pathogenic
Select item 2100	NM_001040716.2(PC):c.467G>A (p.Arg156Gln)	PC (R156Q)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GUncertain significance
Select item 2096	NM_001040716.2(PC):c.434T>C (p.Val145Ala)	PC (V145A)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency	GPathogenic

ClinVar