"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 292327	NM_005518.4(HMGCS2):c.1522G>A (p.Val508Ile)	HMGCS2 (V466I +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 292330	NM_005518.4(HMGCS2):c.1419G>A (p.Lys473=)	HMGCS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 292334	NM_005518.4(HMGCS2):c.858C>T (p.Ser286=)	HMGCS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 618165	NM_005518.4(HMGCS2):c.633C>T (p.Ala211=)	HMGCS2	Single nucleotide variant (synonymous variant +1 more)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GLikely benign
Select item 618164	NM_005518.4(HMGCS2):c.175C>A (p.Leu59Met)	HMGCS2 (L59M)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 292347	NM_005518.4(HMGCS2):c.-11C>T	HMGCS2	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign

ClinVar