"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PC"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 559359	NM_001040716.2(PC):c.3391G>A (p.Val1131Met)	PC (V1131M)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 378336	NM_001040716.2(PC):c.2706C>T (p.Gly902=)	PC	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 21227	NM_001040716.2(PC):c.2619C>T (p.Asn873=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 138581	NM_001040716.2(PC):c.2580C>T (p.Asp860=)	PC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 138578	NM_001040716.2(PC):c.2224-9T>G	PC	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3380032	NM_001040716.2(PC):c.1997C>T (p.Ala666Val)	PC (A666V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 203920	NM_001040716.2(PC):c.616G>T (p.Val206Leu)	PC (V206L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 138583	NM_001040716.2(PC):c.216G>A (p.Thr72=)	PC	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign

ClinVar