"OMIM"[submitter] AND "HMGCL"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 31084	NM_000191.3(HMGCL):c.914_915del (p.Phe305fs)	HMGCL (F305fs +1 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 11958	NM_000191.3(HMGCL):c.835G>A (p.Glu279Lys)	HMGCL (E279K +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 11955	NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	HMGCL (V70L)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 11954	NM_000191.3(HMGCL):c.206_207del (p.Ser69fs)	HMGCL (S69fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11957	NM_000191.3(HMGCL):c.122G>A (p.Arg41Gln)	HMGCL (R41Q)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 11956	NG_013061.1:g.(9952_12876)_(19725_22136)del	HMGCL	Deletion	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic

ClinVar