C0034341[trait identifier] AND "ARUP Laboratories, Molecular Genetics - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203917	NM_001040716.2(PC):c.3107G>A (p.Arg1036His)	PC (R1036H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
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 618261	NM_001040716.2(PC):c.2489G>A (p.Arg830His)	PC (R830H)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 618262	NM_001040716.2(PC):c.2469C>T (p.Asp823=)	PC	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 508931	NM_001040716.2(PC):c.1446C>T (p.Asp482=)	PC	Single nucleotide variant (synonymous variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203920	NM_001040716.2(PC):c.616G>T (p.Val206Leu)	PC (V206L)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203906	NM_001040716.2(PC):c.85G>A (p.Val29Ile)	PC (V29I)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GBenign

ClinVar