Hibch Variant Search Result - Rat Genome Database

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245 records found for search term Hibch

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
405002821	CV3184705	variation	HIBCH, CYS163PHE	Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV003882763]	pathogenic				Human		name , alternate_id
405003227	CV3184706	deletion	HIBCH, 1-BP DEL, 852A	Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV003882764]	pathogenic				Human	1	name , alternate_id
12834039	CV366798	single nucleotide variant	NM_014362.4(HIBCH):c.*3T>C	not specified [RCV000419645]	likely benign	2	190205114	190205114	Human		name
150535690	CV1311986	single nucleotide variant	NM_014362.4(HIBCH):c.*92C>G	not provided [RCV001779797]	likely benign	2	190205025	190205025	Human		name
151232447	CV1316789	single nucleotide variant	NM_014362.4(HIBCH):c.-73C>T	not provided [RCV001786609]	likely benign	2	190319823	190319823	Human		name
12833388	CV366026	single nucleotide variant	NM_014362.4(HIBCH):c.-44C>T	not provided [RCV001703579]	likely benign	2	190319794	190319794	Human		name
12840752	CV366040	single nucleotide variant	NM_014362.4(HIBCH):c.-48G>A	not provided [RCV004708810]\|not specified [RCV000431302]	benign	2	190319798	190319798	Human		name
12840382	CV366809	single nucleotide variant	NM_014362.4(HIBCH):c.-11A>G	not provided [RCV001720265]	likely benign	2	190319761	190319761	Human		name
13526111	CV499698	single nucleotide variant	NM_014362.4(HIBCH):c.-46T>C	not specified [RCV000603682]	likely benign	2	190319796	190319796	Human		name
150479920	CV1239469	single nucleotide variant	NM_014362.4(HIBCH):c.*154A>T	not provided [RCV001652632]	benign	2	190204963	190204963	Human		name
8556001	CV16185	single nucleotide variant	NM_014362.4(HIBCH):c.79-3C>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000001205]	pathogenic	2	190296956	190296956	Human	2	name , alternate_id
156009409	CV2011367	single nucleotide variant	NM_014362.4(HIBCH):c.79-4A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002690433]	likely benign	2	190296957	190296957	Human	2	name , alternate_id
155932307	CV2067382	single nucleotide variant	NM_014362.4(HIBCH):c.79-9T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002838833]	likely benign	2	190296962	190296962	Human	2	name , alternate_id
15148598	CV730094	single nucleotide variant	NM_014362.4(HIBCH):c.79-7T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000878992]\|not provided [RCV003438549]	likely benign	2	190296960	190296960	Human	2	name , alternate_id
127251295	CV1055171	single nucleotide variant	NM_014362.4(HIBCH):c.439-2A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001378527]	likely pathogenic\|conflicting interpretations of pathogenicity	2	190261236	190261236	Human	2	name , alternate_id
150535900	CV1312091	single nucleotide variant	NM_014362.4(HIBCH):c.35+89C>T	not provided [RCV001779903]	likely benign	2	190319627	190319627	Human		name
150542460	CV1314801	single nucleotide variant	NM_014362.4(HIBCH):c.439-1G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001782252]	likely pathogenic	2	190261235	190261235	Human	2	name , alternate_id
151350511	CV1324744	single nucleotide variant	NM_014362.4(HIBCH):c.386-1G>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001809189]	pathogenic\|likely pathogenic	2	190287639	190287639	Human	2	name , alternate_id
151720286	CV1369554	single nucleotide variant	NM_014362.4(HIBCH):c.385+2T>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002036141]	likely pathogenic	2	190290403	190290403	Human	2	name , alternate_id
151829337	CV1446497	single nucleotide variant	NM_014362.4(HIBCH):c.891+1G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001980827]	likely pathogenic	2	190244886	190244886	Human	2	name , alternate_id
8555999	CV16183	single nucleotide variant	NM_014362.4(HIBCH):c.220-9T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000001203]	pathogenic	2	190294639	190294639	Human	2	name , alternate_id
156163916	CV1860014	single nucleotide variant	NM_014362.4(HIBCH):c.810-4A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002573583]\|See cases [RCV003233005]	likely benign\|uncertain significance	2	190244972	190244972	Human	2	name , alternate_id
156365802	CV1906264	single nucleotide variant	NM_014362.4(HIBCH):c.751-4A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003092045]	uncertain significance	2	190246216	190246216	Human	2	name , alternate_id
155947675	CV1996455	single nucleotide variant	NM_014362.4(HIBCH):c.305-5C>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002685838]	likely benign	2	190290490	190290490	Human	2	name , alternate_id
155997684	CV2057243	single nucleotide variant	NM_014362.4(HIBCH):c.438+4A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002819500]	uncertain significance	2	190287582	190287582	Human	2	name , alternate_id
155911207	CV2069489	single nucleotide variant	NM_014362.4(HIBCH):c.304+9T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002837730]	likely benign	2	190294537	190294537	Human	2	name , alternate_id
156060918	CV2155095	single nucleotide variant	NM_014362.4(HIBCH):c.664-2A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003000200]	likely pathogenic	2	190249728	190249728	Human	2	name , alternate_id
402515260	CV2911558	single nucleotide variant	NM_014362.4(HIBCH):c.78+17G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003496015]	likely benign	2	190310737	190310737	Human	2	name , alternate_id
12838337	CV366237	single nucleotide variant	NM_014362.4(HIBCH):c.36-13A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002062749]\|not specified [RCV000426774]	likely benign	2	190310809	190310809	Human	2	name , alternate_id
12846036	CV366276	single nucleotide variant	NM_014362.4(HIBCH):c.438+9A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000970431]\|HIBCH-related disorder [RCV004755913]\|not provided [RCV001720266]	benign\|likely benign	2	190287577	190287577	Human	2	name , trait , alternate_id
597876557	CV3766657	single nucleotide variant	NM_014362.4(HIBCH):c.664-7C>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005108597]	likely benign	2	190249733	190249733	Human	2	name , alternate_id
597938690	CV3852886	single nucleotide variant	NM_014362.4(HIBCH):c.891+9G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005187287]	likely benign	2	190244878	190244878	Human	2	name , alternate_id
12893945	CV405524	single nucleotide variant	NM_014362.4(HIBCH):c.809+1G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000607054]\|not provided [RCV000480908]	pathogenic\|likely pathogenic	2	190246153	190246153	Human	2	name , alternate_id
14978474	CV677411	single nucleotide variant	NM_014362.4(HIBCH):c.517+1G>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000850559]	pathogenic	2	190261155	190261155	Human	2	name , alternate_id
15116521	CV743857	single nucleotide variant	NM_014362.4(HIBCH):c.35+10A>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000895216]	likely benign	2	190319706	190319706	Human	2	name , alternate_id
150330991	CV1168882	single nucleotide variant	NM_014362.4(HIBCH):c.750+34A>G	not provided [RCV001536263]	benign	2	190249606	190249606	Human		name
150416538	CV1196785	single nucleotide variant	NM_014362.4(HIBCH):c.518-70C>T	not provided [RCV001575924]	likely benign	2	190252377	190252377	Human		name
150515606	CV1216264	single nucleotide variant	NM_014362.4(HIBCH):c.891+80G>A	not provided [RCV001608455]	benign	2	190244807	190244807	Human		name
150500869	CV1224874	single nucleotide variant	NM_014362.4(HIBCH):c.79-166G>A	not provided [RCV001620706]	benign	2	190297119	190297119	Human		name
150487134	CV1225858	deletion	NM_014362.4(HIBCH):c.36-118del	not provided [RCV001618019]	benign	2	190310914	190310914	Human		name
150441761	CV1233595	single nucleotide variant	NM_014362.4(HIBCH):c.304+40T>C	not provided [RCV001645283]	benign	2	190294506	190294506	Human		name
150431065	CV1235323	duplication	NM_014362.4(HIBCH):c.305-33dup	not provided [RCV001641693]	benign	2	190290507	190290508	Human		name
150492099	CV1280820	single nucleotide variant	NM_014362.4(HIBCH):c.517+85T>C	not provided [RCV001716750]	benign	2	190261071	190261071	Human		name
150535652	CV1311967	single nucleotide variant	NM_014362.4(HIBCH):c.518-87A>G	not provided [RCV001779778]	likely benign	2	190252394	190252394	Human		name
150548459	CV1316355	single nucleotide variant	NM_014362.4(HIBCH):c.751-41A>G	not provided [RCV001786157]	likely benign	2	190246253	190246253	Human		name
151233375	CV1317059	single nucleotide variant	NM_014362.4(HIBCH):c.809+91T>C	not provided [RCV001786880]	likely benign	2	190246063	190246063	Human		name
151233538	CV1317118	single nucleotide variant	NM_014362.4(HIBCH):c.305-71A>G	not provided [RCV001786939]	likely benign	2	190290556	190290556	Human		name
151233606	CV1317892	duplication	NM_014362.4(HIBCH):c.386-60dup	not provided [RCV001787659]	likely benign	2	190287697	190287698	Human		name
152042543	CV1522195	single nucleotide variant	NM_014362.4(HIBCH):c.809+19C>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002088152]	likely benign	2	190246135	190246135	Human	2	name , alternate_id
152050771	CV1533292	single nucleotide variant	NM_014362.4(HIBCH):c.219+16A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002166850]	likely benign	2	190296797	190296797	Human	2	name , alternate_id
152072309	CV1551621	single nucleotide variant	NM_014362.4(HIBCH):c.892-18A>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002075271]	likely benign	2	190213093	190213093	Human	2	name , alternate_id
152139659	CV1625011	single nucleotide variant	NM_014362.4(HIBCH):c.891+18T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002219205]	likely benign	2	190244869	190244869	Human	2	name , alternate_id
156305408	CV1931303	single nucleotide variant	NM_014362.4(HIBCH):c.518-12A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002647861]	likely benign	2	190252319	190252319	Human	2	name , alternate_id
156359489	CV2016522	single nucleotide variant	NM_014362.4(HIBCH):c.891+16T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002720762]	likely benign	2	190244871	190244871	Human	2	name , alternate_id
155935907	CV2024033	single nucleotide variant	NM_014362.4(HIBCH):c.517+16T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002774865]	likely benign	2	190261140	190261140	Human	2	name , alternate_id
156226843	CV2081144	single nucleotide variant	NM_014362.4(HIBCH):c.663+14T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002853421]	likely benign	2	190252148	190252148	Human	2	name , alternate_id
402510023	CV2854880	single nucleotide variant	NM_014362.4(HIBCH):c.664-18T>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003495540]	likely benign	2	190249744	190249744	Human	2	name , alternate_id
405037450	CV3011892	deletion	NM_014362.4(HIBCH):c.664-16del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003602335]	benign	2	190249742	190249742	Human	2	name , alternate_id
405208349	CV3145608	single nucleotide variant	NM_014362.4(HIBCH):c.663+13A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003845338]	likely benign	2	190252149	190252149	Human	2	name , alternate_id
12843584	CV366272	single nucleotide variant	NM_014362.4(HIBCH):c.1046-8C>T	not specified [RCV000436474]	likely benign	2	190205240	190205240	Human		name
12842046	CV366801	single nucleotide variant	NM_014362.4(HIBCH):c.663+19G>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002064922]\|not specified [RCV000433697]	benign\|likely benign	2	190252143	190252143	Human	2	name , alternate_id
12836606	CV366803	single nucleotide variant	NM_014362.4(HIBCH):c.517+15T>A	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001512151]\|not provided [RCV004708820]\|not specified [RCV000423700]	benign	2	190261141	190261141	Human	2	name , alternate_id
597901313	CV3741342	single nucleotide variant	NM_014362.4(HIBCH):c.517+12G>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005072313]	likely benign	2	190261144	190261144	Human	2	name , alternate_id
597959348	CV3797543	single nucleotide variant	NM_014362.4(HIBCH):c.809+12G>C	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005138230]	likely benign	2	190246142	190246142	Human	2	name , alternate_id
12900664	CV405525	microsatellite	NM_014362.4(HIBCH):c.35+8AG[2]	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003495135]\|not specified [RCV000482897]	benign\|likely benign	2	190319703	190319704	Human		name , alternate_id
13526190	CV499462	deletion	NM_014362.4(HIBCH):c.385+11del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001519360]\|not specified [RCV000603794]	benign	2	190290394	190290394	Human	2	name , alternate_id
13541502	CV499689	single nucleotide variant	NM_014362.4(HIBCH):c.438+19C>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002529671]\|not specified [RCV000616245]	likely benign	2	190287567	190287567	Human	2	name , alternate_id
13536580	CV499857	single nucleotide variant	NM_014362.4(HIBCH):c.891+19C>T	not specified [RCV000609201]	likely benign	2	190244868	190244868	Human		name
13537711	CV499864	single nucleotide variant	NM_014362.4(HIBCH):c.438+11T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002532804]\|not specified [RCV000610780]	likely benign	2	190287575	190287575	Human	2	name , alternate_id
15191241	CV730093	single nucleotide variant	NM_014362.4(HIBCH):c.438+10C>T	not provided [RCV000888324]	likely benign	2	190287576	190287576	Human		name
150404715	CV1193047	single nucleotide variant	NM_014362.4(HIBCH):c.438+114A>G	not provided [RCV001571305]	likely benign	2	190287472	190287472	Human		name
150446401	CV1215652	single nucleotide variant	NM_014362.4(HIBCH):c.751-107T>C	not provided [RCV001611245]	benign	2	190246319	190246319	Human		name
150493836	CV1224483	duplication	NM_014362.4(HIBCH):c.1011+11dup	not provided [RCV001619259]	benign	2	190212935	190212936	Human		name
150487087	CV1225850	single nucleotide variant	NM_014362.4(HIBCH):c.750+131C>T	not provided [RCV001618011]	benign	2	190249509	190249509	Human		name
150491522	CV1239292	single nucleotide variant	NM_014362.4(HIBCH):c.891+165C>T	not provided [RCV001654860]	benign	2	190244722	190244722	Human		name
150504684	CV1240803	single nucleotide variant	NM_014362.4(HIBCH):c.518-173C>T	not provided [RCV001657646]	benign	2	190252480	190252480	Human		name
150466820	CV1255803	duplication	NM_014362.4(HIBCH):c.809+146dup	not provided [RCV001670437]	benign	2	190245989	190245990	Human		name
150468549	CV1259513	single nucleotide variant	NM_014362.4(HIBCH):c.750+137A>G	not provided [RCV001683813]	benign	2	190249503	190249503	Human		name
150459045	CV1263954	single nucleotide variant	NM_014362.4(HIBCH):c.892-234T>G	not provided [RCV001681868]	benign	2	190213309	190213309	Human		name
150458626	CV1269665	single nucleotide variant	NM_014362.4(HIBCH):c.810-176G>T	not provided [RCV001693205]	benign	2	190245144	190245144	Human		name
152129515	CV1607786	deletion	NM_014362.4(HIBCH):c.1011+20del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002176612]	benign	2	190212936	190212936	Human	2	name , alternate_id
156354686	CV1894684	single nucleotide variant	NM_014362.4(HIBCH):c.1012-16C>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003091252]	likely benign	2	190208929	190208929	Human	2	name , alternate_id
156009550	CV2083278	single nucleotide variant	NM_014362.4(HIBCH):c.1012-19A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002866029]	likely benign	2	190208932	190208932	Human	2	name , alternate_id
156351543	CV2122426	duplication	NM_014362.4(HIBCH):c.1011+10dup	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002966335]	likely benign	2	190212945	190212946	Human	2	name , alternate_id
597920800	CV3842798	single nucleotide variant	NM_014362.4(HIBCH):c.1046-15A>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005184283]	likely benign	2	190205247	190205247	Human	2	name , alternate_id
13529606	CV499852	single nucleotide variant	NM_014362.4(HIBCH):c.1012-10T>G	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002528803]\|not specified [RCV000605801]	likely benign\|uncertain significance	2	190208923	190208923	Human	2	name , alternate_id
14709267	CV658745	single nucleotide variant	NM_014362.4(HIBCH):c.1011+11A>T	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002062211]\|not provided [RCV000827387]	benign\|likely benign	2	190212945	190212945	Human	2	name , alternate_id
150466228	CV1277369	duplication	NM_014362.4(HIBCH):c.1045+196dup	not provided [RCV001710664]	benign	2	190208668	190208669	Human		name
150509936	CV1286298	single nucleotide variant	NM_014362.4(HIBCH):c.1045+105A>C	not provided [RCV001720826]	benign	2	190208775	190208775	Human		name
150509938	CV1286299	single nucleotide variant	NM_014362.4(HIBCH):c.1045+141A>G	not provided [RCV001720827]	benign	2	190208739	190208739	Human		name
150535839	CV1312061	single nucleotide variant	NM_014362.4(HIBCH):c.1046-124T>A	not provided [RCV001779872]	likely benign	2	190205356	190205356	Human		name
156213745	CV1869141	deletion	NM_014362.4(HIBCH):c.1010_1011+3del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003058633]\|not provided [RCV003329457]	pathogenic\|likely pathogenic	2	190212953	190212957	Human	2	name , alternate_id
156336343	CV1963958	deletion	NM_014362.4(HIBCH):c.751-5_751-2del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002580267]	uncertain significance	2	190246214	190246217	Human	2	name , alternate_id
15165531	CV777162	deletion	NM_014362.4(HIBCH):c.664-13_664-7del	not provided [RCV000948611]	likely benign	2	190249733	190249739	Human		name
151811783	CV1403421	single nucleotide variant	NM_014362.4(HIBCH):c.4G>A (p.Gly2Arg)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001943646]	uncertain significance	2	190319747	190319747	Human	2	name , alternate_id
156356867	CV2188947	single nucleotide variant	NM_014362.4(HIBCH):c.60T>C (p.Asn20=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003048748]	likely benign	2	190310772	190310772	Human	2	name , alternate_id
12845667	CV366807	single nucleotide variant	NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001509616]\|not provided [RCV000676752]\|not specified [RCV000440239]	benign	2	190319749	190319749	Human	3	name , alternate_id
12845667	CV366807	single nucleotide variant	NM_014362.4(HIBCH):c.2T>C (p.Met1Thr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001509616]\|not provided [RCV000676752]\|not specified [RCV000440239]	benign	2	190319749	190319750	Human	3	name , alternate_id
597693066	CV3685840	single nucleotide variant	NM_014362.4(HIBCH):c.8A>C (p.Gln3Pro)	Inborn genetic diseases [RCV004985814]	uncertain significance	2	190319743	190319743	Human	1	name
151786601	CV1367825	single nucleotide variant	NM_014362.4(HIBCH):c.196C>A (p.Arg66=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001894096]	likely benign\|uncertain significance	2	190296836	190296836	Human	2	name , alternate_id
151814639	CV1406203	single nucleotide variant	NM_014362.4(HIBCH):c.153A>G (p.Leu51=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001949656]	likely benign	2	190296879	190296879	Human	2	name , alternate_id
151785344	CV1425107	single nucleotide variant	NM_014362.4(HIBCH):c.11G>T (p.Arg4Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001891450]	uncertain significance	2	190319740	190319740	Human	2	name , alternate_id
156162047	CV1933259	single nucleotide variant	NM_014362.4(HIBCH):c.288C>T (p.Ala96=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002624407]	uncertain significance	2	190294562	190294562	Human	2	name , alternate_id
156101431	CV2009797	single nucleotide variant	NM_014362.4(HIBCH):c.222G>A (p.Lys74=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002706683]	uncertain significance	2	190294628	190294628	Human	2	name , alternate_id
155969000	CV2152407	single nucleotide variant	NM_014362.4(HIBCH):c.219G>A (p.Lys73=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003015841]	uncertain significance	2	190296813	190296813	Human	2	name , alternate_id
405200448	CV3147210	single nucleotide variant	NM_014362.4(HIBCH):c.150A>G (p.Thr50=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003844370]	likely benign	2	190296882	190296882	Human	2	name , alternate_id
12834805	CV366277	single nucleotide variant	NM_014362.4(HIBCH):c.214C>T (p.Leu72=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000953184]\|not provided [RCV001200441]	benign\|likely benign	2	190296818	190296818	Human	2	name , alternate_id
597958074	CV3755245	single nucleotide variant	NM_014362.4(HIBCH):c.138G>A (p.Thr46=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005080915]	likely benign	2	190296894	190296894	Human	2	name , alternate_id
598247979	CV3978792	single nucleotide variant	NM_014362.4(HIBCH):c.21G>A (p.Trp7Ter)	Inborn genetic diseases [RCV005345379]	uncertain significance	2	190319730	190319730	Human	1	name
598198719	CV4007217	single nucleotide variant	NM_014362.4(HIBCH):c.10C>T (p.Arg4Cys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005398045]	likely benign	2	190319741	190319741	Human	2	name , alternate_id
13533796	CV499696	single nucleotide variant	NM_014362.4(HIBCH):c.243T>G (p.Thr81=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000969163]\|not provided [RCV003432651]\|not specified [RCV000601765]	benign\|likely benign	2	190294607	190294607	Human	2	name , alternate_id
152159217	CV1522015	single nucleotide variant	NM_014362.4(HIBCH):c.798C>T (p.Asp266=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002180626]	likely benign	2	190246165	190246165	Human	2	name , alternate_id
152076779	CV1564568	single nucleotide variant	NM_014362.4(HIBCH):c.897T>C (p.Ile299=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002192514]	likely benign	2	190213070	190213070	Human	2	name , alternate_id
152043415	CV1621868	single nucleotide variant	NM_014362.4(HIBCH):c.550T>C (p.Leu184=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002108046]	likely benign	2	190252275	190252275	Human	2	name , alternate_id
152164737	CV1625548	single nucleotide variant	NM_014362.4(HIBCH):c.312G>A (p.Ser104=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002160308]	likely benign	2	190290478	190290478	Human	2	name , alternate_id
152048721	CV1656022	single nucleotide variant	NM_014362.4(HIBCH):c.783T>G (p.Leu261=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002207242]	likely benign	2	190246180	190246180	Human	2	name , alternate_id
156369414	CV1887880	single nucleotide variant	NM_014362.4(HIBCH):c.35G>A (p.Arg12Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003092300]	uncertain significance	2	190319716	190319716	Human	2	name , alternate_id
156444159	CV1937683	single nucleotide variant	NM_014362.4(HIBCH):c.951G>T (p.Gly317=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003115080]	likely benign	2	190213016	190213016	Human	2	name , alternate_id
155941588	CV2038302	single nucleotide variant	NM_014362.4(HIBCH):c.594A>T (p.Thr198=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002775229]	uncertain significance	2	190252231	190252231	Human	2	name , alternate_id
10401362	CV205049	duplication	NM_014362.4(HIBCH):c.129dup (p.Gly44fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000190537]\|not provided [RCV001657966]	pathogenic\|likely pathogenic	2	190296902	190296903	Human	2	name , alternate_id
155997133	CV2168769	single nucleotide variant	NM_014362.4(HIBCH):c.56C>G (p.Thr19Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003017104]	uncertain significance	2	190310776	190310776	Human	2	name , alternate_id
156284487	CV2172138	single nucleotide variant	NM_014362.4(HIBCH):c.831G>A (p.Val277=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003027435]	likely benign	2	190244947	190244947	Human	2	name , alternate_id
156376815	CV2189053	single nucleotide variant	NM_014362.4(HIBCH):c.68T>A (p.Leu23Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003050171]	uncertain significance	2	190310764	190310764	Human	2	name , alternate_id
329953132	CV2669843	single nucleotide variant	NM_014362.4(HIBCH):c.750G>A (p.Glu250=)	not provided [RCV003234467]	uncertain significance	2	190249640	190249640	Human		name
402511881	CV2919442	single nucleotide variant	NM_014362.4(HIBCH):c.963C>G (p.Thr321=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003495707]	likely benign	2	190213004	190213004	Human	2	name , alternate_id
12836618	CV366021	single nucleotide variant	NM_014362.4(HIBCH):c.882G>A (p.Glu294=)	not specified [RCV000423723]	likely benign	2	190244896	190244896	Human		name
597693072	CV3685839	single nucleotide variant	NM_014362.4(HIBCH):c.97G>T (p.Asp33Tyr)	Inborn genetic diseases [RCV004985813]	uncertain significance	2	190296935	190296935	Human	1	name
597888277	CV3739239	single nucleotide variant	NM_014362.4(HIBCH):c.850T>C (p.Leu284=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005070786]	likely benign	2	190244928	190244928	Human	2	name , alternate_id
597961726	CV3756692	single nucleotide variant	NM_014362.4(HIBCH):c.312G>C (p.Ser104=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005081814]	likely benign	2	190290478	190290478	Human	2	name , alternate_id
597970562	CV3802001	single nucleotide variant	NM_014362.4(HIBCH):c.405T>C (p.Tyr135=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005141793]	likely benign	2	190287619	190287619	Human	2	name , alternate_id
597869992	CV3803559	single nucleotide variant	NM_014362.4(HIBCH):c.921A>G (p.Leu307=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005148157]	likely benign	2	190213046	190213046	Human	2	name , alternate_id
13529601	CV499680	single nucleotide variant	NM_014362.4(HIBCH):c.957A>G (p.Ser319=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000884219]\|not specified [RCV000600369]	benign\|likely benign	2	190213010	190213010	Human	2	name , alternate_id
15135112	CV733029	single nucleotide variant	NM_014362.4(HIBCH):c.885A>G (p.Gln295=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002065654]\|HIBCH-related disorder [RCV003950512]	likely benign	2	190244893	190244893	Human	2	name , trait , alternate_id
15155444	CV747120	single nucleotide variant	NM_014362.4(HIBCH):c.330A>G (p.Lys110=)	not provided [RCV000924466]	likely benign	2	190290460	190290460	Human		name
150415229	CV1196786	single nucleotide variant	NM_014362.4(HIBCH):c.289G>A (p.Gly97Arg)	not provided [RCV001575304]	uncertain significance	2	190294561	190294561	Human		name
151722459	CV1401795	single nucleotide variant	NM_014362.4(HIBCH):c.284G>C (p.Cys95Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002042720]	uncertain significance	2	190294566	190294566	Human	2	name , alternate_id
151800280	CV1496343	single nucleotide variant	NM_014362.4(HIBCH):c.145A>G (p.Ile49Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001921938]	uncertain significance	2	190296887	190296887	Human	2	name , alternate_id
10044818	CV188107	single nucleotide variant	NM_014362.4(HIBCH):c.196C>T (p.Arg66Trp)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000170481]	pathogenic\|likely pathogenic\|uncertain significance	2	190296836	190296836	Human	2	name , alternate_id
156026421	CV1883328	single nucleotide variant	NM_014362.4(HIBCH):c.1035C>T (p.Gly345=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003077894]\|not provided [RCV004695299]	likely benign\|uncertain significance	2	190208890	190208890	Human	2	name , alternate_id
156127329	CV1889142	single nucleotide variant	NM_014362.4(HIBCH):c.125A>G (p.Lys42Arg)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003081690]\|Inborn genetic diseases [RCV004985162]	likely benign\|uncertain significance	2	190296907	190296907	Human	3	name , alternate_id
156298727	CV1924275	single nucleotide variant	NM_014362.4(HIBCH):c.175G>T (p.Ala59Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002629138]	uncertain significance	2	190296857	190296857	Human	2	name , alternate_id
155999731	CV2149259	single nucleotide variant	NM_014362.4(HIBCH):c.253A>T (p.Ile85Phe)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002996960]	uncertain significance	2	190294597	190294597	Human	2	name , alternate_id
156241893	CV2214007	single nucleotide variant	NM_014362.4(HIBCH):c.197G>A (p.Arg66Gln)	Inborn genetic diseases [RCV002701894]	uncertain significance	2	190296835	190296835	Human	1	name
405035275	CV2995292	single nucleotide variant	NM_014362.4(HIBCH):c.1149T>C (p.Asp383=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003602137]	likely benign	2	190205129	190205129	Human	2	name , alternate_id
12846342	CV366274	single nucleotide variant	NM_014362.4(HIBCH):c.1038T>A (p.Val346=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000966838]\|HIBCH-related disorder [RCV003902530]\|not provided [RCV004711064]\|not specified [RCV000441458]	benign\|likely benign	2	190208887	190208887	Human	2	name , trait , alternate_id
12836210	CV366282	single nucleotide variant	NM_014362.4(HIBCH):c.136A>G (p.Thr46Ala)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001517776]\|not provided [RCV000676751]\|not specified [RCV000423009]	benign	2	190296896	190296896	Human	2	name , alternate_id
597841060	CV3752737	single nucleotide variant	NM_014362.4(HIBCH):c.1090C>T (p.Leu364=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005086466]	likely benign	2	190205188	190205188	Human	2	name , alternate_id
12913300	CV421351	deletion	NM_014362.4(HIBCH):c.852del (p.Leu284fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001195536]\|not provided [RCV000493651]	pathogenic\|likely pathogenic	2	190244926	190244926	Human	2	name , alternate_id
13508778	CV481399	single nucleotide variant	NM_014362.4(HIBCH):c.212A>C (p.Gln71Pro)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000578336]	likely pathogenic	2	190296820	190296820	Human	2	name , alternate_id
14709007	CV629239	deletion	NM_014362.4(HIBCH):c.609del (p.Gly204fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000810904]\|HIBCH-related disorder [RCV003413630]	pathogenic\|likely pathogenic	2	190252216	190252216	Human	2	name , trait , alternate_id
14716872	CV629240	single nucleotide variant	NM_014362.4(HIBCH):c.238G>C (p.Glu80Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000795254]\|Inborn genetic diseases [RCV004629328]	uncertain significance	2	190294612	190294612	Human	3	name , alternate_id
15120331	CV781100	single nucleotide variant	NM_014362.4(HIBCH):c.1048T>C (p.Leu350=)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001479198]	likely benign	2	190205230	190205230	Human	2	name , alternate_id
15173923	CV789112	single nucleotide variant	NM_014362.4(HIBCH):c.182C>T (p.Thr61Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000984514]	uncertain significance	2	190296850	190296850	Human	2	name , alternate_id
38494046	CV952868	single nucleotide variant	NM_014362.4(HIBCH):c.226G>A (p.Glu76Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001241076]	conflicting interpretations of pathogenicity\|uncertain significance	2	190294624	190294624	Human	2	name , alternate_id
126729053	CV1015940	single nucleotide variant	NM_014362.4(HIBCH):c.529G>C (p.Asp177His)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001333044]	uncertain significance	2	190252296	190252296	Human	2	name , alternate_id
126739025	CV1019517	single nucleotide variant	NM_014362.4(HIBCH):c.856C>T (p.Gln286Ter)	Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001335656]	pathogenic	2	190244922	190244922	Human	1	name , alternate_id
126739020	CV1019518	single nucleotide variant	NM_014362.4(HIBCH):c.763C>G (p.Arg255Gly)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001335655]	uncertain significance	2	190246200	190246200	Human	2	name , alternate_id
150412018	CV1196784	single nucleotide variant	NM_014362.4(HIBCH):c.925A>T (p.Ile309Phe)	not provided [RCV001574222]	uncertain significance	2	190213042	190213042	Human		name
150504571	CV1211420	duplication	NM_014362.4(HIBCH):c.1045+196_1045+198dup	not provided [RCV001595585]	benign	2	190208668	190208669	Human		name
150452945	CV1255029	duplication	NM_014362.4(HIBCH):c.1045+196_1045+197dup	not provided [RCV001668088]	benign	2	190208668	190208669	Human		name
150445182	CV1269394	duplication	NM_014362.4(HIBCH):c.1045+196_1045+199dup	not provided [RCV001691081]	benign	2	190208668	190208669	Human		name
150544441	CV1313344	single nucleotide variant	NM_014362.4(HIBCH):c.937C>T (p.Gln313Ter)	Beta-hydroxyisobutyryl-CoA deacylase deficiency [RCV001783421]	pathogenic	2	190213030	190213030	Human	1	name , alternate_id
151351389	CV1323538	single nucleotide variant	NM_014362.4(HIBCH):c.777T>A (p.Phe259Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001806394]	likely pathogenic	2	190246186	190246186	Human	2	name , alternate_id
151793559	CV1399375	single nucleotide variant	NM_014362.4(HIBCH):c.974T>G (p.Val325Gly)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001908616]	uncertain significance	2	190212993	190212993	Human	2	name , alternate_id
151824025	CV1462187	deletion	NM_014362.4(HIBCH):c.1128del (p.Phe376fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001970494]	uncertain significance	2	190205150	190205150	Human	2	name , alternate_id
8556000	CV16184	single nucleotide variant	NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000001204]\|Inborn genetic diseases [RCV000623332]\|not provided [RCV000224374]	pathogenic\|likely pathogenic\|conflicting interpretations of pathogenicity	2	190290425	190290425	Human	3	name , alternate_id
153000444	CV1683062	single nucleotide variant	NM_014362.4(HIBCH):c.917C>T (p.Ser306Phe)	See cases [RCV002253072]	uncertain significance	2	190213050	190213050	Human		name
155715442	CV1774115	single nucleotide variant	NM_014362.4(HIBCH):c.716A>G (p.Asn239Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002296396]	uncertain significance	2	190249674	190249674	Human	2	name , alternate_id
10041634	CV185756	single nucleotide variant	NM_014362.4(HIBCH):c.950G>A (p.Gly317Glu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000167584]	pathogenic\|likely pathogenic\|not provided	2	190213017	190213017	Human	2	name , alternate_id
329954675	CV1860018	single nucleotide variant	NM_014362.4(HIBCH):c.958A>G (p.Lys320Glu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003233009]	uncertain significance	2	190213009	190213009	Human	2	name , alternate_id
155798174	CV1861894	single nucleotide variant	NM_014362.4(HIBCH):c.860A>G (p.Asp287Gly)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002471297]	likely pathogenic	2	190244918	190244918	Human	2	name , alternate_id
155946765	CV1872217	single nucleotide variant	NM_014362.4(HIBCH):c.945G>A (p.Met315Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003073896]\|Inborn genetic diseases [RCV004070242]	uncertain significance	2	190213022	190213022	Human	3	name , alternate_id
156160412	CV1872266	single nucleotide variant	NM_014362.4(HIBCH):c.832G>A (p.Glu278Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003056878]	uncertain significance	2	190244946	190244946	Human	2	name , alternate_id
156416734	CV1898054	single nucleotide variant	NM_014362.4(HIBCH):c.925A>G (p.Ile309Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002610334]	uncertain significance	2	190213042	190213042	Human	2	name , alternate_id
156161784	CV1906960	single nucleotide variant	NM_014362.4(HIBCH):c.863G>C (p.Gly288Ala)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003082922]\|Inborn genetic diseases [RCV004985193]	uncertain significance	2	190244915	190244915	Human	3	name , alternate_id
156101890	CV1907158	single nucleotide variant	NM_014362.4(HIBCH):c.324G>T (p.Lys108Asn)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003080632]	uncertain significance	2	190290466	190290466	Human	2	name , alternate_id
156265316	CV1993893	single nucleotide variant	NM_014362.4(HIBCH):c.469C>T (p.Arg157Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002646354]\|not provided [RCV003108126]	pathogenic	2	190261204	190261204	Human	2	name , alternate_id
156396122	CV2012311	single nucleotide variant	NM_014362.4(HIBCH):c.712G>A (p.Glu238Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002725562]	uncertain significance	2	190249678	190249678	Human	2	name , alternate_id
156224956	CV2037887	single nucleotide variant	NM_014362.4(HIBCH):c.692C>T (p.Ala231Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002790776]\|Inborn genetic diseases [RCV002790777]	uncertain significance	2	190249698	190249698	Human	3	name , alternate_id
156111531	CV2046998	single nucleotide variant	NM_014362.4(HIBCH):c.932T>G (p.Leu311Arg)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002761714]\|Inborn genetic diseases [RCV004632072]	uncertain significance	2	190213035	190213035	Human	3	name , alternate_id
156378999	CV2050743	single nucleotide variant	NM_014362.4(HIBCH):c.616G>A (p.Asp206Asn)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002814938]	uncertain significance	2	190252209	190252209	Human	2	name , alternate_id
156192716	CV2255410	single nucleotide variant	NM_014362.4(HIBCH):c.352T>C (p.Phe118Leu)	Inborn genetic diseases [RCV002802947]	uncertain significance	2	190290438	190290438	Human	1	name
156290979	CV2296576	single nucleotide variant	NM_014362.4(HIBCH):c.632G>A (p.Gly211Glu)	Inborn genetic diseases [RCV002878876]	uncertain significance	2	190252193	190252193	Human	1	name
11350849	CV237274	single nucleotide variant	NM_014362.4(HIBCH):c.796G>A (p.Asp266Asn)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001079577]\|HIBCH-related disorder [RCV004755816]\|not provided [RCV000224515]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	2	190246167	190246167	Human	2	name , trait , alternate_id
156051205	CV2386293	single nucleotide variant	NM_014362.4(HIBCH):c.812G>C (p.Cys271Ser)	Inborn genetic diseases [RCV002704956]	uncertain significance	2	190244966	190244966	Human	1	name
156440137	CV2401822	single nucleotide variant	NM_014362.4(HIBCH):c.892G>A (p.Val298Ile)	not provided [RCV003110110]	uncertain significance	2	190213075	190213075	Human		name
243052929	CV2407704	single nucleotide variant	NM_014362.4(HIBCH):c.311C>T (p.Ser104Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003131129]	uncertain significance	2	190290479	190290479	Human	2	name , alternate_id
243057344	CV2415080	single nucleotide variant	NM_014362.4(HIBCH):c.556C>T (p.Arg186Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003146022]	likely pathogenic	2	190252269	190252269	Human	2	name , alternate_id
243049412	CV2419457	single nucleotide variant	NM_014362.4(HIBCH):c.458A>G (p.His153Arg)	See cases [RCV003156191]	likely pathogenic	2	190261215	190261215	Human		name
12912407	CV243978	single nucleotide variant	NM_014362.4(HIBCH):c.410C>T (p.Ala137Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000491605]	pathogenic\|conflicting interpretations of pathogenicity\|uncertain significance	2	190287614	190287614	Human	2	name , alternate_id
329393915	CV2449954	single nucleotide variant	NM_014362.4(HIBCH):c.430A>G (p.Met144Val)	Inborn genetic diseases [RCV003193412]	uncertain significance	2	190287594	190287594	Human	1	name
401750834	CV2712187	single nucleotide variant	NM_014362.4(HIBCH):c.744T>A (p.His248Gln)	Inborn genetic diseases [RCV003276860]	uncertain significance	2	190249646	190249646	Human	1	name
401830061	CV2747656	single nucleotide variant	NM_014362.4(HIBCH):c.991C>T (p.Arg331Trp)	Mitochondrial disease [RCV003329215]	uncertain significance	2	190212976	190212976	Human	1	name
401861121	CV2769523	single nucleotide variant	NM_014362.4(HIBCH):c.635T>C (p.Ile212Thr)	Inborn genetic diseases [RCV003357665]	uncertain significance	2	190252190	190252190	Human	1	name
405777769	CV3270173	single nucleotide variant	NM_014362.4(HIBCH):c.960G>C (p.Lys320Asn)	Inborn genetic diseases [RCV004397090]	uncertain significance	2	190213007	190213007	Human	1	name
405866699	CV3401105	single nucleotide variant	NM_014362.4(HIBCH):c.644A>G (p.His215Arg)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV004577221]	uncertain significance	2	190252181	190252181	Human	2	name , alternate_id
12835008	CV366235	single nucleotide variant	NM_014362.4(HIBCH):c.488G>C (p.Cys163Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000956017]\|HIBCH-related disorder [RCV003912679]\|not provided [RCV004708855]\|not specified [RCV000420934]	pathogenic\|benign	2	190261185	190261185	Human	2	name , trait , alternate_id
12837880	CV366800	single nucleotide variant	NM_014362.4(HIBCH):c.735A>C (p.Glu245Asp)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000946654]\|not provided [RCV004708851]\|not specified [RCV000425938]	benign	2	190249655	190249655	Human	2	name , alternate_id
597693079	CV3685838	single nucleotide variant	NM_014362.4(HIBCH):c.847A>G (p.Asn283Asp)	Inborn genetic diseases [RCV004985812]	uncertain significance	2	190244931	190244931	Human	1	name
597693058	CV3685841	single nucleotide variant	NM_014362.4(HIBCH):c.478A>G (p.Thr160Ala)	Inborn genetic diseases [RCV004985815]	uncertain significance	2	190261195	190261195	Human	1	name
597693049	CV3685842	single nucleotide variant	NM_014362.4(HIBCH):c.707C>T (p.Ser236Leu)	Inborn genetic diseases [RCV004985816]	uncertain significance	2	190249683	190249683	Human	1	name
597920281	CV3765097	single nucleotide variant	NM_014362.4(HIBCH):c.420T>A (p.His140Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005115114]	uncertain significance	2	190287604	190287604	Human	2	name , alternate_id
598202132	CV3892923	single nucleotide variant	NM_014362.4(HIBCH):c.536G>A (p.Gly179Asp)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005255249]	likely pathogenic	2	190252289	190252289	Human	2	name , alternate_id
598202000	CV3892943	single nucleotide variant	NM_014362.4(HIBCH):c.488G>A (p.Cys163Tyr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005255269]	likely pathogenic	2	190261185	190261185	Human	2	name , alternate_id
598177688	CV3978791	single nucleotide variant	NM_014362.4(HIBCH):c.586G>A (p.Ala196Thr)	Inborn genetic diseases [RCV005351875]	uncertain significance	2	190252239	190252239	Human	1	name
12912901	CV421352	single nucleotide variant	NM_014362.4(HIBCH):c.488G>T (p.Cys163Phe)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003114621]\|not provided [RCV000493154]	pathogenic\|likely pathogenic	2	190261185	190261185	Human	2	name , alternate_id
13211471	CV425457	single nucleotide variant	NM_014362.4(HIBCH):c.808A>G (p.Ser270Gly)	not provided [RCV000497485]	uncertain significance	2	190246155	190246155	Human		name
13508756	CV481398	single nucleotide variant	NM_014362.4(HIBCH):c.830T>A (p.Val277Glu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000578248]\|Inborn genetic diseases [RCV002530365]	likely pathogenic\|uncertain significance	2	190244948	190244948	Human	3	name , alternate_id
13532518	CV511372	single nucleotide variant	NM_014362.4(HIBCH):c.743A>G (p.His248Arg)	Inborn genetic diseases [RCV000624273]	uncertain significance	2	190249647	190249647	Human	1	name
13531504	CV511373	single nucleotide variant	NM_014362.4(HIBCH):c.595G>T (p.Gly199Ter)	Inborn genetic diseases [RCV000623387]	pathogenic	2	190252230	190252230	Human	1	name
13532542	CV511374	single nucleotide variant	NM_014362.4(HIBCH):c.371T>C (p.Leu124Pro)	Inborn genetic diseases [RCV000624301]	likely pathogenic	2	190290419	190290419	Human	1	name
13528164	CV513252	single nucleotide variant	NM_014362.4(HIBCH):c.452C>T (p.Ser151Leu)	Neurodegeneration due to 3-hydroxyisobutyryl coenzyme A hydrolase deficiency [RCV000625906]	likely pathogenic	2	190261221	190261221	Human	1	name
14718793	CV629238	single nucleotide variant	NM_014362.4(HIBCH):c.794T>C (p.Met265Thr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000795907]\|Inborn genetic diseases [RCV002537013]	uncertain significance	2	190246169	190246169	Human	3	name , alternate_id
38463610	CV961231	single nucleotide variant	NM_014362.4(HIBCH):c.835G>T (p.Glu279Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001249211]	pathogenic	2	190244943	190244943	Human	2	name , alternate_id
38463605	CV961232	single nucleotide variant	NM_014362.4(HIBCH):c.457C>T (p.His153Tyr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001249210]\|not provided [RCV004727047]	likely pathogenic	2	190261216	190261216	Human	2	name , alternate_id
38465608	CV961752	single nucleotide variant	NM_014362.4(HIBCH):c.790C>T (p.His264Tyr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250100]	uncertain significance	2	190246173	190246173	Human	2	name , alternate_id
38465326	CV961753	single nucleotide variant	NM_014362.4(HIBCH):c.763C>T (p.Arg255Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250109]	pathogenic	2	190246200	190246200	Human	2	name , alternate_id
38465333	CV961754	single nucleotide variant	NM_014362.4(HIBCH):c.632G>T (p.Gly211Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250111]	likely benign	2	190252193	190252193	Human	2	name , alternate_id
38465331	CV961755	single nucleotide variant	NM_014362.4(HIBCH):c.428C>A (p.Thr143Lys)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250110]	likely benign	2	190287596	190287596	Human	2	name , alternate_id
38465287	CV961756	single nucleotide variant	NM_014362.4(HIBCH):c.353T>C (p.Phe118Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001250091]	conflicting interpretations of pathogenicity\|uncertain significance	2	190290437	190290437	Human	2	name , alternate_id
40889812	CV975017	single nucleotide variant	NM_014362.4(HIBCH):c.913A>G (p.Thr305Ala)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005094281]\|not provided [RCV001268287]	pathogenic\|likely pathogenic	2	190213054	190213054	Human	2	name , alternate_id
150535904	CV1312093	single nucleotide variant	NM_014362.4(HIBCH):c.1036G>A (p.Val346Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001868830]\|Inborn genetic diseases [RCV003163921]\|not provided [RCV001779905]	uncertain significance	2	190208889	190208889	Human	3	name , alternate_id
151718942	CV1382911	single nucleotide variant	NM_014362.4(HIBCH):c.1103C>T (p.Thr368Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002031650]	uncertain significance	2	190205175	190205175	Human	2	name , alternate_id
151797023	CV1482931	single nucleotide variant	NM_014362.4(HIBCH):c.1012A>T (p.Arg338Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001914882]\|See cases [RCV003156142]	pathogenic\|likely pathogenic	2	190208913	190208913	Human	2	name , alternate_id
151713102	CV1508560	single nucleotide variant	NM_014362.4(HIBCH):c.1034G>T (p.Gly345Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002010036]	uncertain significance	2	190208891	190208891	Human	2	name , alternate_id
329954673	CV1860013	single nucleotide variant	NM_014362.4(HIBCH):c.1118A>G (p.Asn373Ser)	See cases [RCV003233004]	uncertain significance	2	190205160	190205160	Human		name
156254216	CV1884155	single nucleotide variant	NM_014362.4(HIBCH):c.1028A>T (p.His343Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003086217]	uncertain significance	2	190208897	190208897	Human	2	name , alternate_id
156418501	CV1922245	single nucleotide variant	NM_014362.4(HIBCH):c.1004C>T (p.Ala335Val)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002611698]	uncertain significance	2	190212963	190212963	Human	2	name , alternate_id
156139930	CV1973554	single nucleotide variant	NM_014362.4(HIBCH):c.1084G>A (p.Ala362Thr)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002593795]	uncertain significance	2	190205194	190205194	Human	2	name , alternate_id
10401363	CV205050	single nucleotide variant	NM_014362.4(HIBCH):c.1033G>A (p.Gly345Ser)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000190538]	pathogenic	2	190208892	190208892	Human	2	name , alternate_id
155999480	CV2074532	single nucleotide variant	NM_014362.4(HIBCH):c.1045G>C (p.Val349Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002843338]	uncertain significance	2	190208880	190208880	Human	2	name , alternate_id
155935607	CV2114123	single nucleotide variant	NM_014362.4(HIBCH):c.1024T>C (p.Phe342Leu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV002904110]	uncertain significance	2	190208901	190208901	Human	2	name , alternate_id
10408131	CV213970	duplication	NM_014362.4(HIBCH):c.1128dup (p.Lys377Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000201262]\|not provided [RCV002510816]	pathogenic\|likely pathogenic	2	190205149	190205150	Human	2	name , alternate_id
155990045	CV2151217	single nucleotide variant	NM_014362.4(HIBCH):c.1139G>A (p.Gly380Glu)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003016784]	uncertain significance	2	190205139	190205139	Human	2	name , alternate_id
405048667	CV3137910	single nucleotide variant	NM_014362.4(HIBCH):c.1000C>T (p.Gln334Ter)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003831948]	pathogenic	2	190212967	190212967	Human	2	name , alternate_id
405777757	CV3270171	single nucleotide variant	NM_014362.4(HIBCH):c.1003G>T (p.Ala335Ser)	Inborn genetic diseases [RCV004397088]	uncertain significance	2	190212964	190212964	Human	1	name
405777763	CV3270172	single nucleotide variant	NM_014362.4(HIBCH):c.1133C>A (p.Ser378Tyr)	Inborn genetic diseases [RCV004397089]	uncertain significance	2	190205145	190205145	Human	1	name
597953545	CV3808874	single nucleotide variant	NM_014362.4(HIBCH):c.1070C>A (p.Pro357Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005161792]	uncertain significance	2	190205208	190205208	Human	2	name , alternate_id
14741599	CV629237	single nucleotide variant	NM_014362.4(HIBCH):c.1053T>G (p.Ile351Met)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV000822310]	uncertain significance	2	190205225	190205225	Human	2	name , alternate_id
598198726	CV4007218	deletion	NM_014362.4(HIBCH):c.494_495del (p.Phe165fs)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005398046]	likely pathogenic	2	190261178	190261179	Human	2	name , alternate_id
12893511	CV405523	microsatellite	NM_014362.4(HIBCH):c.1117AAT[1] (p.Asn374del)	not provided [RCV000479236]	likely pathogenic	2	190205156	190205158	Human		name
598202138	CV3892922	deletion	NM_014362.4(HIBCH):c.12_35del (p.Glu5_Arg12del)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV005255248]	likely pathogenic	2	190319716	190319739	Human	2	name , alternate_id
404977846	CV2851654	indel	NM_014362.4(HIBCH):c.760_761delinsAT (p.Asp254Ile)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003486321]	likely pathogenic	2	190246202	190246203	Human		name , alternate_id
151813054	CV1341081	deletion	NC_000002.12:g.190246209_190246214del	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV001946420]	uncertain significance	2	190246207	190246212	Human	2	alternate_id
329954582	CV1860017	single nucleotide variant	NM_004208.4(AIFM1):c.1084A>C (p.Lys362Gln)	3-hydroxyisobutyryl-CoA hydrolase deficiency [RCV003233008]	uncertain significance	X	130136723	130136723	Human	2	alternate_id

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