"Women's Health and Genetics/Laboratory Corporation of America, LabCor - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 21222	NM_001040716.2(PC):c.1892G>A (p.Arg631Gln)	PC (R631Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 203912	NM_001040716.2(PC):c.1717G>A (p.Ala573Thr)	PC (A573T)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2075488	NM_001040716.2(PC):c.1487_1492del (p.Arg496_Ala497del)	PC	Deletion (inframe_deletion)	Pyruvate carboxylase deficiency +1 more	GUncertain significance
Select item 426656	NM_001040716.2(PC):c.1185+5_1185+8del	PC	Deletion (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 381581	NM_001040716.2(PC):c.796T>G (p.Ser266Ala)	PC (S266A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2501793	NM_001040716.2(PC):c.736G>A (p.Glu246Lys)	PC (E246K)	Single nucleotide variant (missense variant)	Pyruvate carboxylase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 203919	NM_001040716.2(PC):c.496G>A (p.Val166Ile)	PC (V166I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity

ClinVar