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

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Items: 67

	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 2334020	NM_000191.3(HMGCL):c.931A>G (p.Asn311Asp)	HMGCL (N311D +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1197454	NM_000191.3(HMGCL):c.877-319T>C	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194526	NM_000191.3(HMGCL):c.876+274CAAAA[2]	HMGCL	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1223853	NM_000191.3(HMGCL):c.876+78G>T	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1207916	NM_000191.3(HMGCL):c.750+241C>T	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 684182	NM_000191.3(HMGCL):c.750+163G>A	HMGCL	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209357	NM_000191.3(HMGCL):c.750+151G>A	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1213010	NM_000191.3(HMGCL):c.750+55_750+57del	HMGCL	Deletion (intron variant)	not provided	GLikely benign
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 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 1305339	NM_000191.3(HMGCL):c.689_697del (p.Leu230_Val232del)	HMGCL	Deletion (inframe_deletion)	not provided	GUncertain significance
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 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 1189335	NM_000191.3(HMGCL):c.562-239G>A	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219970	NM_000191.3(HMGCL):c.561+169_561+177del	HMGCL	Deletion (intron variant)	not provided	GLikely benign
Select item 385155	NM_000191.3(HMGCL):c.561+20C>G	HMGCL	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 682553	NM_000191.3(HMGCL):c.561+13G>A	HMGCL	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 387964	NM_000191.3(HMGCL):c.498-10C>A	HMGCL	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1202106	NM_000191.3(HMGCL):c.498-162G>C	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185841	NM_000191.3(HMGCL):c.497+210G>T	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191187	NM_000191.3(HMGCL):c.497+164C>T	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211516	NM_000191.3(HMGCL):c.497+24C>A	HMGCL	Single nucleotide variant (intron variant)	not provided	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 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 558583	NM_000191.3(HMGCL):c.493C>T (p.Arg165Trp)	HMGCL (R165W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
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 673763	NM_000191.3(HMGCL):c.349-183G>A	HMGCL	Single nucleotide variant (intron variant)	not provided	GBenign
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 1208452	NM_000191.3(HMGCL):c.252+335T>C	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1207975	NM_000191.3(HMGCL):c.145-295G>T	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186632	NM_000191.3(HMGCL):c.145-329G>A	HMGCL	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 382100	NM_000191.3(HMGCL):c.-13A>G	HMGCL	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
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
Select item 1246354	NC_000001.11:g.23825723C>A	HMGCL	Single nucleotide variant	not provided	GBenign
Select item 1286687	NC_000001.11:g.23825732_23825750del	HMGCL	Deletion	not provided	GBenign
Select item 1266131	NC_000001.11:g.23825732_23825741del	HMGCL	Deletion	not provided	GBenign
Select item 1223137	NC_000001.11:g.23825732_23825747del	HMGCL	Deletion	not provided	GLikely benign
Select item 1220226	NC_000001.11:g.23825732_23825740del	HMGCL	Deletion	not provided	GLikely benign
Select item 1174295	NC_000001.11:g.23825732_23825749del	HMGCL	Deletion	not provided	GBenign
Select item 1190618	NC_000001.11:g.23825742A>C	HMGCL	Single nucleotide variant	not provided	GLikely benign
Select item 1225812	NC_000001.11:g.23825743A>C	HMGCL	Single nucleotide variant	not provided	GBenign
Select item 1179809	NC_000001.11:g.23825744A>C	HMGCL	Single nucleotide variant	not provided	GLikely benign
Select item 1250765	NC_000001.11:g.23825751A>C	HMGCL	Single nucleotide variant	not provided	GBenign
Select item 1270137	NC_000001.11:g.23825752A>C	HMGCL	Single nucleotide variant	not provided	GBenign

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Items: 67