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

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 558287	NM_000191.3(HMGCL):c.977G>C (p.Ter326Ser)	HMGCL	Single nucleotide variant (stop lost)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 555633	NM_000191.3(HMGCL):c.976T>C (p.Ter326Arg)	HMGCL	Single nucleotide variant (stop lost)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 552440	NM_000191.3(HMGCL):c.958C>T (p.Gln320Ter)	HMGCL (Q320* +1 more)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
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 552798	NM_000191.3(HMGCL):c.863T>A (p.Leu288Ter)	HMGCL (L288* +1 more)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 556736	NM_000191.3(HMGCL):c.825C>G (p.Asn275Lys)	HMGCL (N275K +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GConflicting classifications of pathogenicity
Select item 552412	NM_000191.3(HMGCL):c.804C>A (p.Tyr268Ter)	HMGCL (Y268* +1 more)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 552714	NM_000191.3(HMGCL):c.796T>C (p.Cys266Arg)	HMGCL (C266R +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 167180	NM_000191.3(HMGCL):c.698A>G (p.His233Arg)	HMGCL (H233R +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555322	NM_000191.3(HMGCL):c.678_686dup (p.Ala229_Ala231dup)	HMGCL	Duplication (inframe_insertion)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 553197	NM_000191.3(HMGCL):c.608G>A (p.Gly203Glu)	HMGCL (G203E +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 449033	NM_000191.3(HMGCL):c.602C>A (p.Ser201Tyr)	HMGCL (S201Y +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 556274	NM_000191.3(HMGCL):c.562-2A>G	HMGCL	Single nucleotide variant (splice acceptor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 557442	NM_000191.3(HMGCL):c.528T>A (p.Tyr176Ter)	HMGCL (Y176*)	Single nucleotide variant (nonsense +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic/Likely pathogenic
Select item 554809	NM_000191.3(HMGCL):c.528T>G (p.Tyr176Ter)	HMGCL (Y176*)	Single nucleotide variant (nonsense +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 521753	NM_000191.3(HMGCL):c.505_506del (p.Ser169fs)	HMGCL (S169fs)	Microsatellite (frameshift variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 556313	NM_000191.3(HMGCL):c.501C>G (p.Tyr167Ter)	HMGCL (Y167*)	Single nucleotide variant (nonsense +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 431913	NM_000191.3(HMGCL):c.497+4A>G	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GConflicting classifications of pathogenicity
Select item 556138	NM_000191.3(HMGCL):c.413del (p.Asn138fs)	HMGCL (N138fs)	Deletion (frameshift variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 557482	NM_000191.3(HMGCL):c.286C>T (p.Gln96Ter)	HMGCL (Q96*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic/Likely pathogenic
Select item 554439	NM_000191.3(HMGCL):c.286del (p.Gln96fs)	HMGCL (Q96fs)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic/Likely pathogenic
Select item 11955	NM_000191.3(HMGCL):c.208G>C (p.Val70Leu)	HMGCL (V70L)	Single nucleotide variant (missense variant)	not provided +1 more	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 556351	NM_000191.3(HMGCL):c.121dup (p.Arg41fs)	HMGCL (R41fs)	Duplication (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
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 553933	NM_000191.3(HMGCL):c.121C>T (p.Arg41Ter)	HMGCL (R41*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic/Likely pathogenic
Select item 195033	NM_000191.3(HMGCL):c.109G>T (p.Glu37Ter)	HMGCL (E37*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 555710	NM_000191.3(HMGCL):c.60+1G>T	HMGCL	Single nucleotide variant (splice donor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic
Select item 521752	NM_000191.3(HMGCL):c.31C>T (p.Arg11Ter)	HMGCL (R11*)	Single nucleotide variant (nonsense)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GPathogenic
Select item 557324	NM_000191.3(HMGCL):c.27del (p.Arg10fs)	HMGCL (R10fs)	Deletion (frameshift variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 554719	NM_000191.3(HMGCL):c.3G>T (p.Met1Ile)	HMGCL (M1I)	Single nucleotide variant (missense variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GLikely pathogenic

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Items: 31