"Revvity Omics, Revvity"[submitter] AND "HMGCL"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2184693	NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys)	HMGCL (Y167C +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1323058	NM_000191.3(HMGCL):c.621del (p.Val208fs)	HMGCL (V137fs +1 more)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 2432488	NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr)	HMGCL (I143T)	Single nucleotide variant (missense variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 11957	NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	HMGCL (R41Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2690622	NM_000191.3(HMGCL):c.71C>G (p.Ser24Ter)	HMGCL (S24*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 1323059	NM_000191.3(HMGCL):c.71C>A (p.Ser24Ter)	HMGCL (S24*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic

ClinVar