"Genome-Nilou Lab"[submitter] AND "HMGCL"[gene] - ClinVar

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Items: 58

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 296845	NM_000191.3(HMGCL):c.*194C>G	HMGCL	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 991792	NM_000191.3(HMGCL):c.950A>G (p.Lys317Arg)	HMGCL (K246R +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +2 more	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 1177625	NM_000191.3(HMGCL):c.877-72T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GBenign
Select item 930617	NM_000191.3(HMGCL):c.876+1G>C	HMGCL	Single nucleotide variant (splice donor variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GPathogenic
Select item 1380049	NM_000191.3(HMGCL):c.805G>A (p.Ala269Thr)	HMGCL (A269T +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1199287	NM_000191.3(HMGCL):c.795C>G (p.Gly265=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GConflicting classifications of pathogenicity
Select item 296849	NM_000191.3(HMGCL):c.734C>T (p.Thr245Ile)	HMGCL (T245I +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1480632	NM_000191.3(HMGCL):c.733A>T (p.Thr245Ser)	HMGCL (T245S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 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 92602	NM_000191.3(HMGCL):c.654A>G (p.Leu218=)	HMGCL	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 966909	NM_000191.3(HMGCL):c.651G>T (p.Met217Ile)	HMGCL (M146I +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GUncertain significance
Select item 933868	NM_000191.3(HMGCL):c.614C>G (p.Thr205Ser)	HMGCL (T134S +1 more)	Single nucleotide variant (missense variant)	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 512109	NM_000191.3(HMGCL):c.604C>T (p.Leu202=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GLikely benign
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 1800706	NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln)	HMGCL (E128Q +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GUncertain significance
Select item 991795	NM_000191.3(HMGCL):c.593A>G (p.Tyr198Cys)	HMGCL (Y127C +1 more)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GUncertain significance
Select item 1368115	NM_000191.3(HMGCL):c.583A>G (p.Met195Val)	HMGCL (M195V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 1331213	NM_000191.3(HMGCL):c.532G>A (p.Gly178Arg)	HMGCL (G178R)	Single nucleotide variant (missense variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GUncertain significance
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 387964	NM_000191.3(HMGCL):c.498-10C>A	HMGCL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 509201	NM_000191.3(HMGCL):c.497+19G>A	HMGCL	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 296853	NM_000191.3(HMGCL):c.497+3G>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 1210424	NM_000191.3(HMGCL):c.497G>T (p.Gly166Val)	HMGCL (G166V)	Single nucleotide variant (missense variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 513090	NM_000191.3(HMGCL):c.443A>G (p.Gln148Arg)	HMGCL (Q148R)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 967513	NM_000191.3(HMGCL):c.419A>G (p.Asn140Ser)	HMGCL (N140S)	Single nucleotide variant (missense variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GUncertain significance
Select item 382367	NM_000191.3(HMGCL):c.393A>G (p.Ser131=)	HMGCL	Single nucleotide variant (synonymous variant +1 more)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GBenign/Likely benign
Select item 759811	NM_000191.3(HMGCL):c.375C>T (p.Val125=)	HMGCL	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 861711	NM_000191.3(HMGCL):c.349-3C>A	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 508307	NM_000191.3(HMGCL):c.345A>C (p.Ala115=)	HMGCL	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 876113	NM_000191.3(HMGCL):c.340G>A (p.Glu114Lys)	HMGCL (E114K)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
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 296854	NM_000191.3(HMGCL):c.254T>C (p.Met85Thr)	HMGCL (M85T)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 255488	NM_000191.3(HMGCL):c.252+34T>C	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +2 more	GBenign
Select item 449273	NM_000191.3(HMGCL):c.244G>A (p.Val82Ile)	HMGCL (V82I)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GUncertain significance
Select item 1685878	NM_000191.3(HMGCL):c.230del (p.Val77fs)	HMGCL (V77fs)	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 991797	NM_000191.3(HMGCL):c.184A>G (p.Met62Val)	HMGCL (M62V)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GUncertain significance
Select item 1935885	NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly)	HMGCL (D61G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 392129	NM_000191.3(HMGCL):c.145-8C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GLikely benign
Select item 386083	NM_000191.3(HMGCL):c.145-13C>T	HMGCL	Single nucleotide variant (intron variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GLikely benign
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 391798	NM_000191.3(HMGCL):c.84T>C (p.Thr28=)	HMGCL	Single nucleotide variant (synonymous variant)	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GLikely benign
Select item 382366	NM_000191.3(HMGCL):c.61-17C>T	HMGCL	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 876115	NM_000191.3(HMGCL):c.56G>C (p.Arg19Pro)	HMGCL (R19P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 296855	NM_000191.3(HMGCL):c.48G>A (p.Ala16=)	HMGCL	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
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 1199314	NM_000191.3(HMGCL):c.20C>T (p.Ala7Val)	HMGCL (A7V)	Single nucleotide variant (missense variant)	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 806088	NM_000191.3(HMGCL):c.20C>G (p.Ala7Gly)	HMGCL (A7G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 368871	NM_000191.2(HMGCL):c.-59A>C	HMGCL	Single nucleotide variant	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GLikely benign
Select item 1177626	NM_000191.3(HMGCL):c.-91G>T	HMGCL	Single nucleotide variant	Deficiency of hydroxymethylglutaryl-CoA lyase +1 more	GBenign

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Items: 58