"Department of Endocrinology, Metabolism and Genetics, Henan Children' - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1327465	NM_005518.4(HMGCS2):c.1394del (p.Asn465fs)	HMGCS2 (N423fs +1 more)	Deletion (frameshift variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1327467	NM_005518.4(HMGCS2):c.1017-2A>G	HMGCS2	Single nucleotide variant (splice acceptor variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1327464	NM_005518.4(HMGCS2):c.821G>A (p.Arg274His)	HMGCS2 (R232H +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1327469	NM_005518.4(HMGCS2):c.788del (p.Leu263fs)	HMGCS2 (L221fs +1 more)	Deletion (frameshift variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1327466	NM_005518.4(HMGCS2):c.719A>C (p.Asp240Ala)	HMGCS2 (D198A +1 more)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 1327461	NM_005518.4(HMGCS2):c.717T>G (p.Tyr239Ter)	HMGCS2 (Y197* +1 more)	Single nucleotide variant (nonsense)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic
Select item 1327463	NM_005518.4(HMGCS2):c.422T>A (p.Val141Asp)	HMGCS2 (V141D)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 1327468	NM_005518.4(HMGCS2):c.407A>G (p.Asp136Gly)	HMGCS2 (D136G)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 1327462	NM_005518.4(HMGCS2):c.220G>A (p.Glu74Lys)	HMGCS2 (E74K)	Single nucleotide variant (missense variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GLikely pathogenic
Select item 1327460	NM_005518.4(HMGCS2):c.39dup (p.Leu14fs)	HMGCS2 (L14fs)	Duplication (frameshift variant)	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	GPathogenic