ClinVar for MedGen (Select 78692) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25772371.	NM_000191.3(HMGCL):c.225C>G (p.Ser75Arg) GRCh37: Chr1:24143993 GRCh38: Chr1:23817503	HMGCL	S75R	Deficiency of hydroxymethylglutaryl-CoA lyase	Likely pathogenic (Jul 28, 2023)	criteria provided, single submitter
Select item 24442292.	NM_000191.3(HMGCL):c.253-2A>G GRCh37: Chr1:24143262 GRCh38: Chr1:23816772	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (Feb 23, 2023)	criteria provided, single submitter
Select item 24324883.	NM_000191.3(HMGCL):c.428T>C (p.Ile143Thr) GRCh37: Chr1:24140749 GRCh38: Chr1:23814259	HMGCL	I143T	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jan 31, 2019)	criteria provided, single submitter
Select item 24291364.	NC_000001.10:g.(24144074_24146999)_(24147084_24151845)del GRCh37: Chr1:24144074-24151845	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely pathogenic (Jan 6, 2023)	criteria provided, single submitter
Select item 24225615.	NC_000001.10:g.(?_19199339)_(24690861_?)dup GRCh37: Chr1:19199339-24690861	SLC66A1, SRSF10, UBR4, UBXN10, USP48, STPG1, TCEA3, TEX46, TMCO4, ASAP3, AKR7A2, AKR7A3, AKR7L, ALDH4A1, ALPL, C1QA, C1QB, C1QC, CAMK2N1, CAPZB, CDA, CDC42, CELA3A, CELA3B, CNR2, DDOST, E2F2, ECE1, EIF4G3, ELOA, EMC1, EPHA8, EPHB2, FAM43B, FUCA1, GALE, GRHL3, HMGCL, HNRNPR, HP1BP3, HSPG2, HTR1D, HTR6, ID3, IFFO2, IFNLR1, IL22RA1, KDM1A, KIF17, LACTBL1, LDLRAD2, LUZP1, LYPLA2, MDS2, MICOS10, MICOS10-NBL1, MRTO4, MUL1, MYOM3, NBL1, NBPF3, OTUD3, PINK1, PITHD1, PLA2G2A, PLA2G2C, PLA2G2D, PLA2G2E, PLA2G2F, PLA2G5, PNRC2, RAP1GAP, RNF186, RPL11, SH2D5, VWA5B1, WNT4, ZBTB40, ZNF436		Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Mar 22, 2022)	criteria provided, single submitter
Select item 24225596.	NC_000001.10:g.(?_24146990)_(24151915_?)del GRCh37: Chr1:24146990-24151915	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 24225587.	NC_000001.10:g.(?_24128943)_(24129064_?)del GRCh37: Chr1:24128943-24129064	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (Aug 30, 2022)	criteria provided, single submitter
Select item 24168678.	NM_000191.3(HMGCL):c.562-20G>C GRCh37: Chr1:24134833 GRCh38: Chr1:23808343	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 21956979.	NM_000191.3(HMGCL):c.562-18G>A GRCh37: Chr1:24134831 GRCh38: Chr1:23808341	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (May 3, 2022)	criteria provided, single submitter
Select item 219009210.	NM_000191.3(HMGCL):c.349-15C>T GRCh37: Chr1:24140843 GRCh38: Chr1:23814353	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 218469311.	NM_000191.3(HMGCL):c.713A>G (p.Tyr238Cys) GRCh37: Chr1:24134662 GRCh38: Chr1:23808172	HMGCL	Y167C, Y238C	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Nov 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 218303012.	NM_000191.3(HMGCL):c.54C>T (p.Leu18=) GRCh37: Chr1:24151852 GRCh38: Chr1:23825362	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (May 5, 2022)	criteria provided, single submitter
Select item 218086713.	NM_000191.3(HMGCL):c.294T>A (p.Phe98Leu) GRCh37: Chr1:24143219 GRCh38: Chr1:23816729	HMGCL	F98L	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Aug 18, 2022)	criteria provided, single submitter
Select item 217822114.	NM_000191.3(HMGCL):c.498-16C>T GRCh37: Chr1:24137305 GRCh38: Chr1:23810815	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 217064615.	NM_000191.3(HMGCL):c.888C>T (p.Leu296=) GRCh37: Chr1:24129043 GRCh38: Chr1:23802553	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jan 13, 2022)	criteria provided, single submitter
Select item 216504816.	NM_000191.3(HMGCL):c.824A>G (p.Asn275Ser) GRCh37: Chr1:24130942 GRCh38: Chr1:23804452	HMGCL	N204S, N275S	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Sep 19, 2022)	criteria provided, single submitter
Select item 216426117.	NM_000191.3(HMGCL):c.750+18C>T GRCh37: Chr1:24134607 GRCh38: Chr1:23808117	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Feb 9, 2022)	criteria provided, single submitter
Select item 216248618.	NM_000191.3(HMGCL):c.482A>G (p.Asn161Ser) GRCh37: Chr1:24140695 GRCh38: Chr1:23814205	HMGCL	N161S	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 215492319.	NM_000191.3(HMGCL):c.811G>A (p.Gly271Arg) GRCh37: Chr1:24130955 GRCh38: Chr1:23804465	HMGCL	G200R, G271R	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 215479920.	NM_000191.3(HMGCL):c.806C>T (p.Ala269Val) GRCh37: Chr1:24130960 GRCh38: Chr1:23804470	HMGCL	A269V, A198V	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 215057121.	NM_000191.3(HMGCL):c.145-7A>C GRCh37: Chr1:24144080 GRCh38: Chr1:23817590	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 214835422.	NM_000191.3(HMGCL):c.564C>A (p.Val188=) GRCh37: Chr1:24134811 GRCh38: Chr1:23808321	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jul 6, 2022)	criteria provided, single submitter
Select item 214699223.	NM_000191.3(HMGCL):c.144+4A>G GRCh37: Chr1:24146996 GRCh38: Chr1:23820506	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Nov 16, 2021)	criteria provided, single submitter
Select item 214047124.	NM_000191.3(HMGCL):c.876+14C>A GRCh37: Chr1:24130876 GRCh38: Chr1:23804386	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Aug 22, 2022)	criteria provided, single submitter
Select item 213583625.	NM_000191.3(HMGCL):c.27G>C (p.Pro9=) GRCh37: Chr1:24151879 GRCh38: Chr1:23825389	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (May 13, 2022)	criteria provided, single submitter
Select item 213312226.	NM_000191.3(HMGCL):c.187C>T (p.Leu63Phe) GRCh37: Chr1:24144031 GRCh38: Chr1:23817541	HMGCL	L63F	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 213272327.	NM_000191.3(HMGCL):c.878G>C (p.Gly293Ala) GRCh37: Chr1:24129053 GRCh38: Chr1:23802563	HMGCL	G293A, G222A	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Nov 23, 2021)	criteria provided, single submitter
Select item 212453928.	NM_000191.3(HMGCL):c.93G>A (p.Lys31=) GRCh37: Chr1:24147051 GRCh38: Chr1:23820561	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Apr 18, 2022)	criteria provided, single submitter
Select item 212238329.	NM_000191.3(HMGCL):c.801C>T (p.Pro267=) GRCh37: Chr1:24130965 GRCh38: Chr1:23804475	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Apr 7, 2022)	criteria provided, single submitter
Select item 212226230.	NM_000191.3(HMGCL):c.750+6C>T GRCh37: Chr1:24134619 GRCh38: Chr1:23808129	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Apr 6, 2022)	criteria provided, single submitter
Select item 212085331.	NM_000191.3(HMGCL):c.562-1G>A GRCh37: Chr1:24134814 GRCh38: Chr1:23808324	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely pathogenic (Apr 2, 2022)	criteria provided, single submitter
Select item 211921632.	NM_000191.3(HMGCL):c.252+1G>C GRCh37: Chr1:24143965 GRCh38: Chr1:23817475	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely pathogenic (Apr 21, 2022)	criteria provided, single submitter
Select item 211774933.	NM_000191.3(HMGCL):c.513T>C (p.Ala171=) GRCh37: Chr1:24137274 GRCh38: Chr1:23810784	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Apr 3, 2022)	criteria provided, single submitter
Select item 211704234.	NM_000191.3(HMGCL):c.561+7G>C GRCh37: Chr1:24137219 GRCh38: Chr1:23810729	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Mar 26, 2022)	criteria provided, single submitter
Select item 211031835.	NM_000191.3(HMGCL):c.252+10A>G GRCh37: Chr1:24143956 GRCh38: Chr1:23817466	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210724536.	NM_000191.3(HMGCL):c.394_406dup (p.Lys136fs) GRCh37: Chr1:24140770-24140771 GRCh38: Chr1:23814280-23814281	HMGCL	K136fs	Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 210353237.	NM_000191.3(HMGCL):c.942T>A (p.Thr314=) GRCh37: Chr1:24128989 GRCh38: Chr1:23802499	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Feb 25, 2022)	criteria provided, single submitter
Select item 210314338.	NM_000191.3(HMGCL):c.274T>C (p.Leu92=) GRCh37: Chr1:24143239 GRCh38: Chr1:23816749	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 209603639.	NM_000191.3(HMGCL):c.874_876+31del GRCh37: Chr1:24130859-24130892 GRCh38: Chr1:23804369-23804402	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 209201540.	NM_000191.3(HMGCL):c.735C>T (p.Thr245=) GRCh37: Chr1:24134640 GRCh38: Chr1:23808150	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Apr 25, 2022)	criteria provided, single submitter
Select item 209158041.	NM_000191.3(HMGCL):c.751-4C>T GRCh37: Chr1:24131019 GRCh38: Chr1:23804529	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 209111542.	NM_000191.3(HMGCL):c.675G>C (p.Val225=) GRCh37: Chr1:24134700 GRCh38: Chr1:23808210	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 208567043.	NM_000191.3(HMGCL):c.876G>T (p.Thr292=) GRCh37: Chr1:24130890 GRCh38: Chr1:23804400	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Aug 12, 2022)	criteria provided, single submitter
Select item 208377044.	NM_000191.3(HMGCL):c.233C>T (p.Ser78Phe) GRCh37: Chr1:24143985 GRCh38: Chr1:23817495	HMGCL	S78F	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Aug 1, 2022)	criteria provided, single submitter
Select item 207564545.	NM_000191.3(HMGCL):c.112G>T (p.Val38Phe) GRCh37: Chr1:24147032 GRCh38: Chr1:23820542	HMGCL	V38F	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 207564346.	NM_000191.3(HMGCL):c.920G>A (p.Cys307Tyr) GRCh37: Chr1:24129011 GRCh38: Chr1:23802521	HMGCL	C307Y, C236Y	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jul 26, 2022)	criteria provided, single submitter
Select item 207362547.	NM_000191.3(HMGCL):c.751-10A>G GRCh37: Chr1:24131025 GRCh38: Chr1:23804535	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Sep 7, 2022)	criteria provided, single submitter
Select item 207229948.	NM_000191.3(HMGCL):c.102A>G (p.Lys34=) GRCh37: Chr1:24147042 GRCh38: Chr1:23820552	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jun 23, 2022)	criteria provided, single submitter
Select item 206189449.	NM_000191.3(HMGCL):c.750+19C>T GRCh37: Chr1:24134606 GRCh38: Chr1:23808116	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 205801450.	NM_000191.3(HMGCL):c.405C>G (p.Thr135=) GRCh37: Chr1:24140772 GRCh38: Chr1:23814282	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Dec 24, 2021)	criteria provided, single submitter
Select item 205486651.	NM_000191.3(HMGCL):c.915T>C (p.Phe305=) GRCh37: Chr1:24129016 GRCh38: Chr1:23802526	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Dec 30, 2021)	criteria provided, single submitter
Select item 205064152.	NM_000191.3(HMGCL):c.751-13C>G GRCh37: Chr1:24131028 GRCh38: Chr1:23804538	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 203425853.	NM_000191.3(HMGCL):c.751-7T>C GRCh37: Chr1:24131022 GRCh38: Chr1:23804532	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 203252154.	NM_000191.3(HMGCL):c.60+10C>T GRCh37: Chr1:24151836 GRCh38: Chr1:23825346	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 202724855.	NM_000191.3(HMGCL):c.685G>A (p.Ala229Thr) GRCh37: Chr1:24134690 GRCh38: Chr1:23808200	HMGCL	A158T, A229T	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 202516356.	NM_000191.3(HMGCL):c.751-8G>A GRCh37: Chr1:24131023 GRCh38: Chr1:23804533	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 202515857.	NM_001166059.2(HMGCL):c.348+2337_348+2349del GRCh37: Chr1:24140816-24140828 GRCh38: Chr1:23814326-23814338	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (Aug 20, 2022)	criteria provided, single submitter
Select item 202399358.	NM_000191.3(HMGCL):c.909A>G (p.Gly303=) GRCh37: Chr1:24129022 GRCh38: Chr1:23802532	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Aug 13, 2022)	criteria provided, single submitter
Select item 202141759.	NM_000191.3(HMGCL):c.699C>T (p.His233=) GRCh37: Chr1:24134676 GRCh38: Chr1:23808186	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Aug 4, 2022)	criteria provided, single submitter
Select item 202108360.	NM_000191.3(HMGCL):c.145-9C>T GRCh37: Chr1:24144082 GRCh38: Chr1:23817592	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Aug 1, 2022)	criteria provided, single submitter
Select item 201371861.	NM_000191.3(HMGCL):c.962C>A (p.Ala321Asp) GRCh37: Chr1:24128969 GRCh38: Chr1:23802479	HMGCL	A250D, A321D	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jul 3, 2022)	criteria provided, single submitter
Select item 201179462.	NM_000191.3(HMGCL):c.54C>G (p.Leu18=) GRCh37: Chr1:24151852 GRCh38: Chr1:23825362	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 201083963.	NM_000191.3(HMGCL):c.745C>T (p.Leu249=) GRCh37: Chr1:24134630 GRCh38: Chr1:23808140	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jun 26, 2022)	criteria provided, single submitter
Select item 200893964.	NM_000191.3(HMGCL):c.743C>T (p.Ala248Val) GRCh37: Chr1:24134632 GRCh38: Chr1:23808142	HMGCL	A177V, A248V	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200629765.	NM_000191.3(HMGCL):c.348+7_348+9dup GRCh37: Chr1:24143155-24143156 GRCh38: Chr1:23816665-23816666	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jun 14, 2022)	criteria provided, single submitter
Select item 200364266.	NM_000191.3(HMGCL):c.849C>T (p.Tyr283=) GRCh37: Chr1:24130917 GRCh38: Chr1:23804427	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 199992667.	NM_000191.3(HMGCL):c.690_698del (p.Ala231_His233del) GRCh37: Chr1:24134677-24134685 GRCh38: Chr1:23808187-23808195	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 199741468.	NM_000191.3(HMGCL):c.348G>A (p.Ala116=) GRCh37: Chr1:24143165 GRCh38: Chr1:23816675	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jul 15, 2022)	criteria provided, single submitter
Select item 199719669.	NM_000191.3(HMGCL):c.178_187del (p.Ile60fs) GRCh37: Chr1:24144031-24144040 GRCh38: Chr1:23817541-23817550	HMGCL	I60fs	Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 199310670.	NM_000191.3(HMGCL):c.250C>T (p.Gln84Ter) GRCh37: Chr1:24143968 GRCh38: Chr1:23817478	HMGCL	Q84*	Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic (May 11, 2022)	criteria provided, single submitter
Select item 198311671.	NM_000191.3(HMGCL):c.760A>G (p.Ser254Gly) GRCh37: Chr1:24131006 GRCh38: Chr1:23804516	HMGCL	S183G, S254G	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Oct 30, 2022)	criteria provided, single submitter
Select item 198296672.	NM_000191.3(HMGCL):c.497+10A>G GRCh37: Chr1:24140670 GRCh38: Chr1:23814180	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Mar 2, 2022)	criteria provided, single submitter
Select item 198025673.	NM_000191.3(HMGCL):c.12G>A (p.Met4Ile) GRCh37: Chr1:24151894 GRCh38: Chr1:23825404	HMGCL	M4I	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 197826774.	NM_000191.3(HMGCL):c.160C>G (p.Pro54Ala) GRCh37: Chr1:24144058 GRCh38: Chr1:23817568	HMGCL	P54A	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Aug 2, 2022)	criteria provided, single submitter
Select item 197770075.	NM_000191.3(HMGCL):c.565A>C (p.Thr189Pro) GRCh37: Chr1:24134810 GRCh38: Chr1:23808320	HMGCL	T118P, T189P	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Aug 21, 2022)	criteria provided, single submitter
Select item 196606976.	NM_000191.3(HMGCL):c.5C>T (p.Ala2Val) GRCh37: Chr1:24151901 GRCh38: Chr1:23825411	HMGCL	A2V	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (May 11, 2022)	criteria provided, single submitter
Select item 195804277.	NM_000191.3(HMGCL):c.252+8C>G GRCh37: Chr1:24143958 GRCh38: Chr1:23817468	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Dec 18, 2021)	criteria provided, single submitter
Select item 195731278.	NM_000191.3(HMGCL):c.41G>T (p.Gly14Val) GRCh37: Chr1:24151865 GRCh38: Chr1:23825375	HMGCL	G14V	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Mar 15, 2022)	criteria provided, single submitter
Select item 195310079.	NM_000191.3(HMGCL):c.711C>G (p.Thr237=) GRCh37: Chr1:24134664 GRCh38: Chr1:23808174	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Aug 20, 2022)	criteria provided, single submitter
Select item 195173280.	NM_000191.3(HMGCL):c.876+9A>G GRCh37: Chr1:24130881 GRCh38: Chr1:23804391	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jul 8, 2022)	criteria provided, single submitter
Select item 194868781.	NM_000191.3(HMGCL):c.145A>G (p.Asn49Asp) GRCh37: Chr1:24144073 GRCh38: Chr1:23817583	HMGCL	N49D	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jun 10, 2022)	criteria provided, single submitter
Select item 194486282.	NM_000191.3(HMGCL):c.60+8C>A GRCh37: Chr1:24151838 GRCh38: Chr1:23825348	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jan 22, 2022)	criteria provided, single submitter
Select item 193588583.	NM_000191.3(HMGCL):c.182A>G (p.Asp61Gly) GRCh37: Chr1:24144036 GRCh38: Chr1:23817546	HMGCL	D61G	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 193365284.	NM_000191.3(HMGCL):c.16A>G (p.Lys6Glu) GRCh37: Chr1:24151890 GRCh38: Chr1:23825400	HMGCL	K6E	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 191379085.	NM_000191.3(HMGCL):c.960G>A (p.Gln320=) GRCh37: Chr1:24128971 GRCh38: Chr1:23802481	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Nov 11, 2021)	criteria provided, single submitter
Select item 190910386.	NM_000191.3(HMGCL):c.793G>A (p.Gly265Ser) GRCh37: Chr1:24130973 GRCh38: Chr1:23804483	HMGCL	G265S, G194S	Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 180070687.	NM_000191.3(HMGCL):c.595G>C (p.Glu199Gln) GRCh37: Chr1:24134780 GRCh38: Chr1:23808290	HMGCL	E128Q, E199Q	not provided, Deficiency of hydroxymethylglutaryl-CoA lyase	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 172484988.	NM_000191.3(HMGCL):c.276_278delinsT (p.Leu92fs) GRCh37: Chr1:24143235-24143237 GRCh38: Chr1:23816745-23816747	HMGCL	L92fs	Deficiency of hydroxymethylglutaryl-CoA lyase	Likely pathogenic (Mar 1, 2022)	criteria provided, single submitter
Select item 172467489.	NM_000191.3(HMGCL):c.308del (p.Tyr103fs) GRCh37: Chr1:24143205 GRCh38: Chr1:23816715	HMGCL	Y103fs	Deficiency of hydroxymethylglutaryl-CoA lyase	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 168587890.	NM_000191.3(HMGCL):c.230del (p.Val77fs) GRCh37: Chr1:24143988 GRCh38: Chr1:23817498	HMGCL	V77fs	Deficiency of hydroxymethylglutaryl-CoA lyase	Pathogenic/Likely pathogenic (Apr 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 166537791.	NM_000191.3(HMGCL):c.150C>A (p.Ile50=) GRCh37: Chr1:24144068 GRCh38: Chr1:23817578	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Dec 24, 2020)	criteria provided, single submitter
Select item 166334992.	NM_000191.3(HMGCL):c.460C>T (p.Leu154=) GRCh37: Chr1:24140717 GRCh38: Chr1:23814227	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Dec 20, 2020)	criteria provided, single submitter
Select item 165945893.	NM_000191.3(HMGCL):c.378C>T (p.Ile126=) GRCh37: Chr1:24140799 GRCh38: Chr1:23814309	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 165922694.	NM_000191.3(HMGCL):c.841C>T (p.Leu281=) GRCh37: Chr1:24130925 GRCh38: Chr1:23804435	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Mar 31, 2021)	criteria provided, single submitter
Select item 165722695.	NM_000191.3(HMGCL):c.34C>T (p.Leu12=) GRCh37: Chr1:24151872 GRCh38: Chr1:23825382	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Dec 19, 2020)	criteria provided, single submitter
Select item 165587696.	NM_000191.3(HMGCL):c.48G>C (p.Ala16=) GRCh37: Chr1:24151858 GRCh38: Chr1:23825368	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Jan 26, 2021)	criteria provided, single submitter
Select item 165444197.	NM_000191.3(HMGCL):c.348+7G>A GRCh37: Chr1:24143158 GRCh38: Chr1:23816668	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Sep 20, 2022)	criteria provided, single submitter
Select item 164950898.	NM_000191.3(HMGCL):c.349-10A>G GRCh37: Chr1:24140838 GRCh38: Chr1:23814348	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Apr 15, 2021)	criteria provided, single submitter
Select item 163477499.	NM_000191.3(HMGCL):c.402C>T (p.Phe134=) GRCh37: Chr1:24140775 GRCh38: Chr1:23814285	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (Feb 18, 2021)	criteria provided, single submitter
Select item 1632539100.	NM_000191.3(HMGCL):c.252+17A>G GRCh37: Chr1:24143949 GRCh38: Chr1:23817459	HMGCL		Deficiency of hydroxymethylglutaryl-CoA lyase	Likely benign (May 27, 2021)	criteria provided, single submitter

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