Acaca Variant Search Result - Rat Genome Database

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Variants search result for Homo sapiens
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329 records found for search term Acaca

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RGD ID	Symbol	Variant Type	Name	Trait	Clinical Significance	Chr	Start	Stop	Species	Annotations	Match
401916601	CV2811271	single nucleotide variant	NM_198834.3(ACACA):c.472-3C>T	not provided [RCV003429138]	likely benign\|conflicting interpretations of pathogenicity	17	37283408	37283408	Human		name
404980079	CV3009790	single nucleotide variant	NM_198834.3(ACACA):c.901+7A>G	not provided [RCV003691075]	likely benign	17	37275944	37275944	Human		name
597860341	CV3748663	single nucleotide variant	NM_198834.3(ACACA):c.803-6T>C	not provided [RCV005067295]	likely benign	17	37276055	37276055	Human		name
597848085	CV3762034	single nucleotide variant	NM_198834.3(ACACA):c.803-9C>T	not provided [RCV005087452]	likely benign	17	37276058	37276058	Human		name
151860692	CV1400317	single nucleotide variant	NM_198834.3(ACACA):c.1662+5C>G	not provided [RCV001997097]	uncertain significance	17	37258207	37258207	Human		name
152127019	CV1580984	single nucleotide variant	NM_198834.3(ACACA):c.721-16T>C	not provided [RCV002098960]	benign	17	37277130	37277130	Human		name
152127407	CV1642062	single nucleotide variant	NM_198834.3(ACACA):c.1120-8T>C	ACACA-related disorder [RCV003926284]\|not provided [RCV002176350]	benign	17	37263902	37263902	Human	1	name , trait , alternate_id
152078095	CV1666006	single nucleotide variant	NM_198834.3(ACACA):c.6041+7G>A	not provided [RCV002092495]	likely benign	17	37125691	37125691	Human		name
156210092	CV1959595	single nucleotide variant	NM_198834.3(ACACA):c.1329+7A>G	not provided [RCV002575118]	likely benign	17	37263678	37263678	Human		name
156266368	CV1960883	single nucleotide variant	NM_198834.3(ACACA):c.4777-7C>T	ACACA-related disorder [RCV004758233]\|not provided [RCV002577018]	likely benign	17	37181363	37181363	Human	1	name , trait , alternate_id
156074763	CV1979067	single nucleotide variant	NM_198834.3(ACACA):c.3708-6A>G	not provided [RCV002621354]	likely benign	17	37207806	37207806	Human		name
156343726	CV1981702	single nucleotide variant	NM_198834.3(ACACA):c.6452+6G>T	not provided [RCV002631564]	uncertain significance	17	37113082	37113082	Human		name
156360201	CV2006975	single nucleotide variant	NM_198834.3(ACACA):c.5680-5T>G	not provided [RCV002676196]	likely benign	17	37130223	37130223	Human		name
156256877	CV2025972	single nucleotide variant	NM_198834.3(ACACA):c.2595+7A>G	not provided [RCV002746175]	likely benign	17	37245073	37245073	Human		name
156023023	CV2040794	single nucleotide variant	NM_198834.3(ACACA):c.610+12G>A	not provided [RCV002795676]	likely benign	17	37283255	37283255	Human		name
156135152	CV2044302	single nucleotide variant	NM_198834.3(ACACA):c.338+16A>G	not provided [RCV002786317]	benign	17	37330157	37330157	Human		name
156218408	CV2047761	single nucleotide variant	NM_198834.3(ACACA):c.3361-8C>T	not provided [RCV002790536]	likely benign	17	37225113	37225113	Human		name
156032381	CV2089820	single nucleotide variant	NM_198834.3(ACACA):c.3475-6T>A	not provided [RCV002885456]	likely benign\|uncertain significance	17	37223607	37223607	Human		name
156140255	CV2137778	single nucleotide variant	NM_198834.3(ACACA):c.1330-4T>A	not provided [RCV002982287]	uncertain significance	17	37259534	37259534	Human		name
401961150	CV2844442	duplication	NM_198834.3(ACACA):c.6720+2dup	not provided [RCV003480237]	uncertain significance	17	37097827	37097828	Human		name
402480486	CV2910951	single nucleotide variant	NM_198834.3(ACACA):c.1329+3A>G	not provided [RCV003572024]	uncertain significance	17	37263682	37263682	Human		name
405122108	CV2954009	single nucleotide variant	NM_198834.3(ACACA):c.6042-3C>T	not provided [RCV003667498]	uncertain significance	17	37122630	37122630	Human		name
405128404	CV2954901	single nucleotide variant	NM_198834.3(ACACA):c.802+10T>A	not provided [RCV003668153]	likely benign	17	37277023	37277023	Human		name
405230987	CV2964531	single nucleotide variant	NM_198834.3(ACACA):c.902-15T>A	not provided [RCV003682252]	likely benign	17	37274314	37274314	Human		name
405158184	CV3024777	single nucleotide variant	NM_198834.3(ACACA):c.4777-9T>G	not provided [RCV003703776]	likely benign	17	37181365	37181365	Human		name
404991382	CV3132038	single nucleotide variant	NM_198834.3(ACACA):c.6275-6C>T	not provided [RCV003827167]	likely benign	17	37113271	37113271	Human		name
405037083	CV3140519	single nucleotide variant	NM_198834.3(ACACA):c.3247-6A>G	not provided [RCV003831001]	likely benign	17	37226458	37226458	Human		name
405287610	CV3210761	deletion	NM_198834.3(ACACA):c.4777-8del	ACACA-related disorder [RCV003924514]	likely benign	17	37181364	37181364	Human		name , trait , alternate_id
597887471	CV3741969	single nucleotide variant	NM_198834.3(ACACA):c.1008+9C>T	not provided [RCV005070689]	likely benign	17	37274184	37274184	Human		name
597852193	CV3747069	single nucleotide variant	NM_198834.3(ACACA):c.3707+5C>T	not provided [RCV005060698]	uncertain significance	17	37210462	37210462	Human		name
597924929	CV3748545	single nucleotide variant	NM_198834.3(ACACA):c.3564+4A>G	not provided [RCV005075193]	uncertain significance	17	37223508	37223508	Human		name
597843429	CV3753014	single nucleotide variant	NM_198834.3(ACACA):c.2932-9A>G	not provided [RCV005086743]	likely benign	17	37242062	37242062	Human		name
597949305	CV3759326	single nucleotide variant	NM_198834.3(ACACA):c.2742+7A>G	not provided [RCV005079123]	likely benign	17	37244581	37244581	Human		name
597933573	CV3858640	single nucleotide variant	NM_198834.3(ACACA):c.1120-1G>A	not provided [RCV005207110]	uncertain significance	17	37263895	37263895	Human		name
13789835	CV550068	single nucleotide variant	NM_198834.3(ACACA):c.4777-7C>G	ACACA-related disorder [RCV003980304]\|not provided [RCV000676920]	benign	17	37181363	37181363	Human	1	name , trait , alternate_id
13789838	CV550069	duplication	NM_198834.3(ACACA):c.4777-8dup	not provided [RCV000676921]	benign\|likely benign	17	37181363	37181364	Human		name
13789846	CV550071	single nucleotide variant	NM_198834.3(ACACA):c.3122-6G>A	ACACA-related disorder [RCV003938031]\|not provided [RCV000676923]	benign	17	37235105	37235105	Human	1	name , trait , alternate_id
13789855	CV550074	single nucleotide variant	NM_198834.3(ACACA):c.1009-3A>C	ACACA-related disorder [RCV003938032]\|not provided [RCV000676926]	likely benign	17	37270864	37270864	Human	1	name , trait , alternate_id
21075604	CV797521	single nucleotide variant	NM_198834.3(ACACA):c.4057-5C>T	ACACA-related disorder [RCV003936264]\|not provided [RCV000996525]	likely benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	37200488	37200488	Human	1	name , trait , alternate_id
8585339	CV119923	single nucleotide variant	NM_198834.2(ACACA):c.38+5810A>T	Lung cancer [RCV000100443]	uncertain significance	17	37400452	37400452	Human		name
152148489	CV1528878	deletion	NM_198834.3(ACACA):c.1120-19del	not provided [RCV002101854]	benign	17	37263913	37263913	Human		name
152150165	CV1531243	single nucleotide variant	NM_198834.3(ACACA):c.4201-16T>C	not provided [RCV002201842]	benign	17	37192321	37192321	Human		name
152140078	CV1551234	single nucleotide variant	NM_198834.3(ACACA):c.3851+13G>A	not provided [RCV002177940]	benign	17	37207644	37207644	Human		name
152174640	CV1602192	single nucleotide variant	NM_198834.3(ACACA):c.1120-15C>T	not provided [RCV002144504]	likely benign	17	37263909	37263909	Human		name
152030634	CV1622270	single nucleotide variant	NM_198834.3(ACACA):c.1977+19A>C	not provided [RCV002186518]	likely benign	17	37252867	37252867	Human		name
152156588	CV1629749	single nucleotide variant	NM_198834.3(ACACA):c.4158+15C>G	not provided [RCV002202741]	likely benign	17	37200124	37200124	Human		name
152070955	CV1630628	single nucleotide variant	NM_198834.3(ACACA):c.1500+19G>A	not provided [RCV002129612]	benign	17	37259341	37259341	Human		name
152071210	CV1630747	single nucleotide variant	NM_198834.3(ACACA):c.2163+16T>C	not provided [RCV002129640]	benign	17	37248577	37248577	Human		name
152114299	CV1651173	duplication	NM_198834.3(ACACA):c.1120-19dup	not provided [RCV002153459]	benign	17	37263912	37263913	Human		name
152160293	CV1655629	single nucleotide variant	NM_198834.3(ACACA):c.5350-11G>A	not provided [RCV002203314]	benign	17	37155791	37155791	Human		name
156238239	CV1952884	single nucleotide variant	NM_198834.3(ACACA):c.5447+20A>G	not provided [RCV002576128]	benign	17	37155663	37155663	Human		name
156390073	CV1955256	single nucleotide variant	NM_198834.3(ACACA):c.7028+12G>A	not provided [RCV002583789]	likely benign	17	37088926	37088926	Human		name
156165573	CV1959836	single nucleotide variant	NM_198834.3(ACACA):c.3707+14A>G	not provided [RCV002573656]	likely benign	17	37210453	37210453	Human		name
156340054	CV1961618	single nucleotide variant	NM_198834.3(ACACA):c.3852-11G>T	not provided [RCV002580456]	likely benign	17	37206890	37206890	Human		name
156091353	CV1963265	single nucleotide variant	NM_198834.3(ACACA):c.3683+15G>A	not provided [RCV002570235]	benign	17	37221709	37221709	Human		name
156321745	CV1978707	single nucleotide variant	NM_198834.3(ACACA):c.5679+13G>A	not provided [RCV002630392]	likely benign	17	37149851	37149851	Human		name
156351065	CV1985609	single nucleotide variant	NM_198834.3(ACACA):c.2082-14C>G	not provided [RCV002631982]	likely benign	17	37248688	37248688	Human		name
156252122	CV1993479	single nucleotide variant	NM_198834.3(ACACA):c.5349+10A>G	not provided [RCV002627483]	likely benign	17	37161771	37161771	Human		name
156117627	CV1994051	duplication	NM_198834.3(ACACA):c.4201-20dup	not provided [RCV002662728]	benign	17	37192324	37192325	Human		name
156126796	CV2005441	single nucleotide variant	NM_198834.3(ACACA):c.1978-13T>G	not provided [RCV002663067]	likely benign	17	37252121	37252121	Human		name
155913825	CV2007915	single nucleotide variant	NM_198834.3(ACACA):c.3246+17A>G	not provided [RCV002681910]	likely benign	17	37234958	37234958	Human		name
156297690	CV2017145	duplication	NM_198834.3(ACACA):c.3247-15dup	not provided [RCV002715917]	benign	17	37226466	37226467	Human		name
156257540	CV2041326	single nucleotide variant	NM_198834.3(ACACA):c.1120-19T>C	not provided [RCV002806217]	likely benign	17	37263913	37263913	Human		name
156243188	CV2043926	single nucleotide variant	NM_198834.3(ACACA):c.7028+20C>T	not provided [RCV002805750]	benign	17	37088918	37088918	Human		name
156015946	CV2044039	single nucleotide variant	NM_198834.3(ACACA):c.3121+16A>G	not provided [RCV002795348]	likely benign	17	37240460	37240460	Human		name
156227219	CV2048401	single nucleotide variant	NM_198834.3(ACACA):c.5945-13T>C	not provided [RCV002790859]	benign	17	37125807	37125807	Human		name
156301229	CV2069928	single nucleotide variant	NM_198834.3(ACACA):c.3475-20C>T	not provided [RCV002833629]	likely benign	17	37223621	37223621	Human		name
156088380	CV2132105	single nucleotide variant	NM_198834.3(ACACA):c.3708-20G>A	not provided [RCV002979510]	likely benign	17	37207820	37207820	Human		name
156301091	CV2189467	single nucleotide variant	NM_198834.3(ACACA):c.5679+19G>A	not provided [RCV003061966]	likely benign	17	37149845	37149845	Human		name
405103963	CV3120050	single nucleotide variant	NM_198834.3(ACACA):c.6275-16G>T	not provided [RCV003812120]\|not specified [RCV004587565]	likely benign	17	37113281	37113281	Human		name
405124153	CV3126356	single nucleotide variant	NM_198834.3(ACACA):c.5679+10T>C	not provided [RCV003815108]	likely benign	17	37149854	37149854	Human		name
405196083	CV3128751	single nucleotide variant	NM_198834.3(ACACA):c.6042-14T>C	not provided [RCV003821489]	likely benign	17	37122641	37122641	Human		name
405141102	CV3131214	single nucleotide variant	NM_198834.3(ACACA):c.4158+16A>C	not provided [RCV003839254]	likely benign	17	37200123	37200123	Human		name
405037141	CV3140520	single nucleotide variant	NM_198834.3(ACACA):c.3247-16T>G	not provided [RCV003831002]	likely benign	17	37226468	37226468	Human		name
405176198	CV3146879	single nucleotide variant	NM_198834.3(ACACA):c.7028+11C>T	not provided [RCV003841974]	likely benign	17	37088927	37088927	Human		name
405244325	CV3161231	single nucleotide variant	NM_198834.3(ACACA):c.5824-20C>T	not provided [RCV003868140]	likely benign	17	37129505	37129505	Human		name
404979208	CV3183161	single nucleotide variant	NM_198834.3(ACACA):c.2163+14C>A	not provided [RCV003880184]	benign	17	37248579	37248579	Human		name
404981403	CV3183509	single nucleotide variant	NM_198834.3(ACACA):c.5447+14T>C	not provided [RCV003880532]	likely benign	17	37155669	37155669	Human		name
405294874	CV3214946	single nucleotide variant	NM_198834.3(ACACA):c.5569-10C>G	ACACA-related disorder [RCV003936805]	likely benign	17	37149984	37149984	Human		name , trait , alternate_id
407428732	CV3410375	single nucleotide variant	NM_198834.3(ACACA):c.6453-13C>A	not specified [RCV004587982]	likely benign	17	37111656	37111656	Human		name
597846856	CV3736280	single nucleotide variant	NM_198834.3(ACACA):c.2082-17T>C	not provided [RCV005065628]	likely benign	17	37248691	37248691	Human		name
597851866	CV3737577	single nucleotide variant	NM_198834.3(ACACA):c.3032+17C>G	not provided [RCV005066350]	likely benign	17	37241936	37241936	Human		name
597852427	CV3737638	single nucleotide variant	NM_198834.3(ACACA):c.1120-14C>G	not provided [RCV005066411]	likely benign	17	37263908	37263908	Human		name
597919973	CV3738023	duplication	NM_198834.3(ACACA):c.2932-19dup	not provided [RCV005074622]	benign	17	37242071	37242072	Human		name
597864189	CV3745317	single nucleotide variant	NM_198834.3(ACACA):c.2082-10G>A	not provided [RCV005067673]	likely benign	17	37248684	37248684	Human		name
597869203	CV3749758	single nucleotide variant	NM_198834.3(ACACA):c.4158+17A>G	not provided [RCV005068439]	likely benign	17	37200122	37200122	Human		name
597844338	CV3752600	single nucleotide variant	NM_198834.3(ACACA):c.3683+17A>T	not provided [RCV005087006]	benign	17	37221707	37221707	Human		name
597969705	CV3753427	single nucleotide variant	NM_198834.3(ACACA):c.4416+11T>A	not provided [RCV005083912]	likely benign	17	37192079	37192079	Human		name
597961961	CV3753567	single nucleotide variant	NM_198834.3(ACACA):c.6720+14T>G	not provided [RCV005081871]	likely benign	17	37097816	37097816	Human		name
597955662	CV3809539	deletion	NM_198834.3(ACACA):c.1500+11del	not provided [RCV005162264]	likely benign	17	37259349	37259349	Human		name
597959318	CV3815092	single nucleotide variant	NM_198834.3(ACACA):c.2743-18C>G	not provided [RCV005163218]	uncertain significance	17	37243577	37243577	Human		name
13789841	CV550070	single nucleotide variant	NM_198834.3(ACACA):c.3475-10T>C	ACACA-related disorder [RCV003918119]\|not provided [RCV000676922]	benign\|likely benign	17	37223611	37223611	Human	1	name , trait , alternate_id
8585337	CV119921	single nucleotide variant	NM_198834.2(ACACA):c.4932+788A>T	Lung cancer [RCV000100441]	uncertain significance	17	37180413	37180413	Human		name
8585338	CV119922	single nucleotide variant	NM_198834.2(ACACA):c.3246+328A>T	Lung cancer [RCV000100442]	uncertain significance	17	37234647	37234647	Human		name
405202583	CV3129333	microsatellite	NM_198834.3(ACACA):c.3474+2TA[8]	not provided [RCV003822186]	likely benign	17	37224967	37224974	Human		name
126726406	CV1018275	microsatellite	NM_198834.3(ACACA):c.3474+2TA[14]	Acetyl-CoA: carboxylase deficiency [RCV005365539]	pathogenic\|uncertain significance	17	37224966	37224967	Human		name , alternate_id
156226966	CV1991594	microsatellite	NM_198834.3(ACACA):c.5945-22TTTC[2]	not provided [RCV002626654]	likely benign	17	37125805	37125808	Human		name
156266334	CV1960882	insertion	NM_198834.3(ACACA):c.4777-7_4777-6insG	ACACA-related disorder [RCV004758232]\|not provided [RCV002577017]	likely benign	17	37181362	37181363	Human	1	name , trait , alternate_id
405210254	CV2871550	deletion	NM_198834.3(ACACA):c.4114-10_4114-6del	not provided [RCV003552474]	likely benign	17	37200189	37200193	Human		name
405218350	CV2873559	single nucleotide variant	NM_198834.3(ACACA):c.216C>T (p.Asn72=)	not provided [RCV003553443]	likely benign	17	37330295	37330295	Human		name
597879177	CV3744484	single nucleotide variant	NM_198834.3(ACACA):c.120A>G (p.Glu40=)	not provided [RCV005069698]	likely benign	17	37330391	37330391	Human		name
13789849	CV550072	duplication	NM_198834.3(ACACA):c.2082-10_2082-8dup	ACACA-related disorder [RCV003928164]\|not provided [RCV000676924]	benign\|likely benign	17	37248681	37248682	Human	1	name , trait , alternate_id
151809491	CV1338752	single nucleotide variant	NM_198834.3(ACACA):c.609A>G (p.Ala203=)	not provided [RCV002012296]	uncertain significance	17	37283268	37283268	Human		name
152076214	CV1604492	variation	NM_198834.3(ACACA):c.6189= (p.Thr2063=)	not provided [RCV002092255]	benign	17	37121440	37121440	Human		name
152174384	CV1622427	single nucleotide variant	NM_198834.3(ACACA):c.639G>A (p.Val213=)	not provided [RCV002184490]	likely benign	17	37277977	37277977	Human		name
156289509	CV1998103	single nucleotide variant	NM_198834.3(ACACA):c.570C>T (p.Phe190=)	not provided [RCV002647136]	likely benign	17	37283307	37283307	Human		name
156096301	CV2087765	single nucleotide variant	NM_198834.3(ACACA):c.420T>G (p.Ala140=)	not provided [RCV002847908]	likely benign	17	37284889	37284889	Human		name
405103786	CV3116354	single nucleotide variant	NM_198834.3(ACACA):c.768G>A (p.Pro256=)	not provided [RCV003812070]	benign	17	37277067	37277067	Human		name
405232368	CV3144589	single nucleotide variant	NM_198834.3(ACACA):c.786T>C (p.Asn262=)	not provided [RCV003853042]	likely benign	17	37277049	37277049	Human		name
13789859	CV550075	single nucleotide variant	NM_198834.3(ACACA):c.999T>C (p.Asp333=)	not provided [RCV000676927]	likely benign	17	37274202	37274202	Human		name
13789865	CV550077	single nucleotide variant	NM_198834.3(ACACA):c.547C>A (p.Arg183=)	ACACA-related disorder [RCV003938033]\|not provided [RCV000676929]	benign\|likely benign	17	37283330	37283330	Human	1	name , trait , alternate_id
126726408	CV1018276	deletion	NM_198834.3(ACACA):c.455del (p.Asn152fs)	Acetyl-CoA: carboxylase deficiency [RCV001331953]	pathogenic	17	37284854	37284854	Human		name , alternate_id
152162927	CV1648078	single nucleotide variant	NM_198834.3(ACACA):c.1878T>A (p.Thr626=)	not provided [RCV002123525]	likely benign	17	37252985	37252985	Human		name
152120267	CV1657446	single nucleotide variant	NM_198834.3(ACACA):c.1563C>G (p.Pro521=)	not provided [RCV002216680]	likely benign	17	37258311	37258311	Human		name
152085534	CV1663292	single nucleotide variant	NM_198834.3(ACACA):c.2436C>T (p.Ala812=)	not provided [RCV002171122]	likely benign	17	37246850	37246850	Human		name
156410369	CV1958344	single nucleotide variant	NM_198834.3(ACACA):c.188A>G (p.Glu63Gly)	not provided [RCV002587129]\|not specified [RCV004603206]	uncertain significance	17	37330323	37330323	Human		name
156382517	CV1960972	single nucleotide variant	NM_198834.3(ACACA):c.2889T>A (p.Ala963=)	not provided [RCV002583274]	likely benign	17	37243413	37243413	Human		name
156416625	CV1976728	single nucleotide variant	NM_198834.3(ACACA):c.2910C>T (p.Leu970=)	not provided [RCV002589788]	likely benign	17	37243392	37243392	Human		name
156322209	CV1978826	single nucleotide variant	NM_198834.3(ACACA):c.1089T>C (p.Asn363=)	not provided [RCV002630423]	likely benign	17	37270781	37270781	Human		name
156015642	CV2044011	single nucleotide variant	NM_198834.3(ACACA):c.1602C>T (p.His534=)	ACACA-related disorder [RCV003973485]\|not provided [RCV002795334]	benign	17	37258272	37258272	Human	1	name , trait , alternate_id
156227117	CV2048398	single nucleotide variant	NM_198834.3(ACACA):c.2958A>G (p.Ala986=)	ACACA-related disorder [RCV003916539]\|not provided [RCV002790856]	likely benign	17	37242027	37242027	Human	1	name , trait , alternate_id
156147578	CV2052802	single nucleotide variant	NM_198834.3(ACACA):c.1854G>A (p.Leu618=)	not provided [RCV002801184]	likely benign	17	37253009	37253009	Human		name
156366360	CV2177066	single nucleotide variant	NM_198834.3(ACACA):c.191A>T (p.Asp64Val)	not provided [RCV003049374]	uncertain significance	17	37330320	37330320	Human		name
156380102	CV2218056	single nucleotide variant	NM_198834.3(ACACA):c.211A>G (p.Ser71Gly)	not specified [RCV004086495]	uncertain significance	17	37330300	37330300	Human		name
405240746	CV2974015	single nucleotide variant	NM_198834.3(ACACA):c.225G>T (p.Lys75Asn)	not provided [RCV003684014]	uncertain significance	17	37330286	37330286	Human		name
405249279	CV3003913	single nucleotide variant	NM_198834.3(ACACA):c.2637G>T (p.Thr879=)	not provided [RCV003721258]	likely benign	17	37244693	37244693	Human		name
405133917	CV3018389	single nucleotide variant	NM_198834.3(ACACA):c.2901A>G (p.Thr967=)	not provided [RCV003701937]	likely benign	17	37243401	37243401	Human		name
405138355	CV3115771	single nucleotide variant	NM_198834.3(ACACA):c.2025C>T (p.His675=)	not provided [RCV003816428]	likely benign	17	37252061	37252061	Human		name
405103779	CV3116352	single nucleotide variant	NM_198834.3(ACACA):c.1902G>A (p.Leu634=)	not provided [RCV003812068]	likely benign	17	37252961	37252961	Human		name
405182508	CV3127478	single nucleotide variant	NM_198834.3(ACACA):c.2394G>A (p.Lys798=)	not provided [RCV003820166]	likely benign	17	37246892	37246892	Human		name
405191698	CV3157010	single nucleotide variant	NM_198834.3(ACACA):c.2625G>C (p.Arg875=)	not provided [RCV003859698]	likely benign	17	37244705	37244705	Human		name
405248578	CV3169664	single nucleotide variant	NM_198834.3(ACACA):c.1995C>T (p.Thr665=)	ACACA-related disorder [RCV003949072]\|not provided [RCV003869477]	likely benign	17	37252091	37252091	Human	1	name , trait , alternate_id
405258246	CV3208304	single nucleotide variant	NM_198834.3(ACACA):c.2970C>T (p.Asn990=)	ACACA-related disorder [RCV003941731]	likely benign	17	37242015	37242015	Human		name , trait , alternate_id
405266473	CV3213172	single nucleotide variant	NM_198834.3(ACACA):c.2367G>A (p.Ser789=)	ACACA-related disorder [RCV003969321]	likely benign	17	37246919	37246919	Human		name , trait , alternate_id
407494416	CV3417385	single nucleotide variant	NM_198834.3(ACACA):c.171A>G (p.Ile57Met)	not specified [RCV004605585]	uncertain significance	17	37330340	37330340	Human		name
407494507	CV3417409	single nucleotide variant	NM_198834.3(ACACA):c.185C>G (p.Ser62Cys)	not specified [RCV004605607]	uncertain significance	17	37330326	37330326	Human		name
597848055	CV3736811	single nucleotide variant	NM_198834.3(ACACA):c.1026A>G (p.Gly342=)	not provided [RCV005065970]	likely benign	17	37270844	37270844	Human		name
597971652	CV3750790	single nucleotide variant	NM_198834.3(ACACA):c.1335G>A (p.Ala445=)	not provided [RCV005084534]	uncertain significance	17	37259525	37259525	Human		name
597875440	CV3813118	single nucleotide variant	NM_198834.3(ACACA):c.1941T>C (p.Thr647=)	not provided [RCV005149054]	likely benign	17	37252922	37252922	Human		name
13789851	CV550073	single nucleotide variant	NM_198834.3(ACACA):c.1923G>A (p.Gln641=)	ACACA-related disorder [RCV003983165]\|Acetyl-CoA: carboxylase deficiency [RCV001421020]\|not provided [RCV000676925]	benign	17	37252940	37252940	Human	1	name , trait , alternate_id
151663191	CV1330987	single nucleotide variant	NM_198834.3(ACACA):c.364G>A (p.Val122Ile)	not provided [RCV001825160]	not provided	17	37284945	37284945	Human		name
151835789	CV1378641	single nucleotide variant	NM_198834.3(ACACA):c.451G>A (p.Gly151Arg)	not provided [RCV001880769]	uncertain significance	17	37284858	37284858	Human		name
151858154	CV1408268	single nucleotide variant	NM_198834.3(ACACA):c.373G>A (p.Gly125Ser)	not provided [RCV001883581]	uncertain significance	17	37284936	37284936	Human		name
152102372	CV1523894	single nucleotide variant	NM_198834.3(ACACA):c.3567G>T (p.Val1189=)	not provided [RCV002133430]	likely benign	17	37221840	37221840	Human		name
152111494	CV1532064	single nucleotide variant	NM_198834.3(ACACA):c.908G>A (p.Arg303His)	not provided [RCV002116602]	likely benign	17	37274293	37274293	Human		name
152097962	CV1542347	single nucleotide variant	NM_198834.3(ACACA):c.6576G>A (p.Glu2192=)	not provided [RCV002195169]	likely benign	17	37097974	37097974	Human		name
152032505	CV1546313	single nucleotide variant	NM_198834.3(ACACA):c.6634C>T (p.Leu2212=)	ACACA-related disorder [RCV003958754]\|not provided [RCV002124760]	benign\|likely benign	17	37097916	37097916	Human	1	name , trait , alternate_id
152156425	CV1585997	single nucleotide variant	NM_198834.3(ACACA):c.5493C>G (p.Pro1831=)	not provided [RCV002140237]	likely benign	17	37151376	37151376	Human		name
152100632	CV1606748	single nucleotide variant	NM_198834.3(ACACA):c.4666C>T (p.Leu1556=)	not provided [RCV002195501]	likely benign	17	37188387	37188387	Human		name
152100250	CV1610805	single nucleotide variant	NM_198834.3(ACACA):c.4627T>C (p.Leu1543=)	not provided [RCV002133185]	likely benign	17	37188426	37188426	Human		name
152094841	CV1617592	single nucleotide variant	NM_198834.3(ACACA):c.3483C>T (p.Ile1161=)	not provided [RCV002114567]	likely benign	17	37223593	37223593	Human		name
152028202	CV1642697	single nucleotide variant	NM_198834.3(ACACA):c.5697G>C (p.Val1899=)	not provided [RCV002185757]	likely benign	17	37130201	37130201	Human		name
152098219	CV1650310	single nucleotide variant	NM_198834.3(ACACA):c.6879A>G (p.Glu2293=)	not provided [RCV002114982]	likely benign	17	37097008	37097008	Human		name
156279119	CV1900423	single nucleotide variant	NM_198834.3(ACACA):c.6189G>C (p.Thr2063=)	not provided [RCV003087050]	uncertain significance	17	37121440	37121440	Human		name
155952381	CV1922041	single nucleotide variant	NM_198834.3(ACACA):c.6213C>T (p.Asn2071=)	not provided [RCV002616294]	likely benign	17	37121416	37121416	Human		name
156344875	CV1958124	single nucleotide variant	NM_198834.3(ACACA):c.4983T>C (p.Ser1661=)	not provided [RCV002580711]	likely benign	17	37179356	37179356	Human		name
156415399	CV1958375	single nucleotide variant	NM_198834.3(ACACA):c.5007G>A (p.Leu1669=)	not provided [RCV002589146]	likely benign	17	37179332	37179332	Human		name
156415488	CV1958584	single nucleotide variant	NM_198834.3(ACACA):c.5493C>T (p.Pro1831=)	not provided [RCV002589196]	likely benign	17	37151376	37151376	Human		name
156415818	CV1966271	single nucleotide variant	NM_198834.3(ACACA):c.5352A>G (p.Gly1784=)	not provided [RCV002589381]	likely benign	17	37155778	37155778	Human		name
156242193	CV1973259	single nucleotide variant	NM_198834.3(ACACA):c.6282C>T (p.Tyr2094=)	ACACA-related disorder [RCV003961079]\|not provided [RCV002597183]	likely benign	17	37113258	37113258	Human	1	name , trait , alternate_id
156235717	CV1976853	single nucleotide variant	NM_198834.3(ACACA):c.4713C>T (p.Asn1571=)	not provided [RCV002596971]	likely benign	17	37188340	37188340	Human		name
156392109	CV1991445	single nucleotide variant	NM_198834.3(ACACA):c.5424C>T (p.His1808=)	not provided [RCV002635095]	likely benign	17	37155706	37155706	Human		name
156109859	CV2002235	single nucleotide variant	NM_198834.3(ACACA):c.475C>G (p.Leu159Val)	not provided [RCV002639894]	uncertain significance	17	37283402	37283402	Human		name
156135048	CV2044297	single nucleotide variant	NM_198834.3(ACACA):c.4968A>G (p.Gln1656=)	not provided [RCV002786314]	likely benign	17	37179371	37179371	Human		name
156377831	CV2050622	single nucleotide variant	NM_198834.3(ACACA):c.5121A>G (p.Glu1707=)	not provided [RCV002814844]	likely benign	17	37162009	37162009	Human		name
156139087	CV2082214	single nucleotide variant	NM_198834.3(ACACA):c.332A>G (p.His111Arg)	not provided [RCV002871917]	uncertain significance	17	37330179	37330179	Human		name
156190795	CV2098982	single nucleotide variant	NM_198834.3(ACACA):c.6189G>A (p.Thr2063=)	not provided [RCV002917442]	likely benign	17	37121440	37121440	Human		name
156303375	CV2105092	single nucleotide variant	NM_198834.3(ACACA):c.4872G>A (p.Arg1624=)	not provided [RCV002922693]	likely benign	17	37181261	37181261	Human		name
156230204	CV2115566	single nucleotide variant	NM_198834.3(ACACA):c.494T>C (p.Ile165Thr)	not provided [RCV002932799]	uncertain significance	17	37283383	37283383	Human		name
156270805	CV2178991	single nucleotide variant	NM_198834.3(ACACA):c.6483A>G (p.Val2161=)	not provided [RCV003044445]	likely benign	17	37111613	37111613	Human		name
156220410	CV2222295	single nucleotide variant	NM_198834.3(ACACA):c.980A>G (p.Tyr327Cys)	not specified [RCV004105312]	uncertain significance	17	37274221	37274221	Human		name
156045392	CV2315520	single nucleotide variant	NM_198834.3(ACACA):c.503T>C (p.Val168Ala)	not specified [RCV004169571]	uncertain significance	17	37283374	37283374	Human		name
156217756	CV2386180	single nucleotide variant	NM_198834.3(ACACA):c.788G>A (p.Gly263Asp)	not specified [RCV004229224]	uncertain significance	17	37277047	37277047	Human		name
401903907	CV2811270	single nucleotide variant	NM_198834.3(ACACA):c.3183A>G (p.Val1061=)	not provided [RCV003419714]	likely benign	17	37235038	37235038	Human		name
402485996	CV2945097	single nucleotide variant	NM_198834.3(ACACA):c.6876G>A (p.Val2292=)	not provided [RCV003660078]	likely benign	17	37097011	37097011	Human		name
405244906	CV2972697	single nucleotide variant	NM_198834.3(ACACA):c.3229C>T (p.Leu1077=)	not provided [RCV003684988]	likely benign	17	37234992	37234992	Human		name
402488806	CV2984354	single nucleotide variant	NM_198834.3(ACACA):c.4440A>G (p.Gln1480=)	not provided [RCV003713571]	likely benign	17	37191252	37191252	Human		name
405131072	CV3115069	single nucleotide variant	NM_198834.3(ACACA):c.7008C>T (p.Tyr2336=)	not provided [RCV003815914]	likely benign	17	37088958	37088958	Human		name
405114331	CV3115420	single nucleotide variant	NM_198834.3(ACACA):c.5685C>T (p.Leu1895=)	not provided [RCV003814102]	likely benign	17	37130213	37130213	Human		name
405095303	CV3119040	single nucleotide variant	NM_198834.3(ACACA):c.4497C>T (p.Asn1499=)	ACACA-related disorder [RCV003929359]\|not provided [RCV003811491]	benign\|likely benign	17	37191195	37191195	Human	1	name , trait , alternate_id
405176817	CV3119340	single nucleotide variant	NM_198834.3(ACACA):c.7014C>T (p.Leu2338=)	ACACA-related disorder [RCV003949032]\|not provided [RCV003819625]	benign\|likely benign	17	37088952	37088952	Human	1	name , trait , alternate_id
405102204	CV3119364	single nucleotide variant	NM_198834.3(ACACA):c.5700C>T (p.Tyr1900=)	not provided [RCV003811625]	likely benign	17	37130198	37130198	Human		name
404984425	CV3121716	single nucleotide variant	NM_198834.3(ACACA):c.7080G>C (p.Thr2360=)	not provided [RCV003826515]	likely benign	17	37087388	37087388	Human		name
405139701	CV3125487	single nucleotide variant	NM_198834.3(ACACA):c.3204C>T (p.His1068=)	not provided [RCV003816594]	likely benign	17	37235017	37235017	Human		name
404977694	CV3127253	single nucleotide variant	NM_198834.3(ACACA):c.6033T>C (p.Gly2011=)	not provided [RCV003825476]	likely benign	17	37125706	37125706	Human		name
405222793	CV3154907	single nucleotide variant	NM_198834.3(ACACA):c.6210C>T (p.Phe2070=)	not provided [RCV003847402]	likely benign	17	37121419	37121419	Human		name
405091525	CV3167935	single nucleotide variant	NM_198834.3(ACACA):c.6969G>A (p.Ser2323=)	not provided [RCV003852325]	likely benign	17	37088997	37088997	Human		name
405255511	CV3172492	single nucleotide variant	NM_198834.3(ACACA):c.3558T>G (p.Ala1186=)	ACACA-related disorder [RCV003981182]\|not provided [RCV003872430]	likely benign	17	37223518	37223518	Human	1	name , trait , alternate_id
404996487	CV3172888	single nucleotide variant	NM_198834.3(ACACA):c.314A>T (p.Gln105Leu)	ACACA-related disorder [RCV003909211]\|not provided [RCV003882170]	benign\|likely benign	17	37330197	37330197	Human	1	name , trait , alternate_id
405274761	CV3199811	single nucleotide variant	NM_198834.3(ACACA):c.5202G>A (p.Leu1734=)	ACACA-related disorder [RCV003973862]	likely benign	17	37161928	37161928	Human		name , trait , alternate_id
405290722	CV3207641	single nucleotide variant	NM_198834.3(ACACA):c.6024G>C (p.Val2008=)	ACACA-related disorder [RCV003927207]	likely benign	17	37125715	37125715	Human		name , trait , alternate_id
405270628	CV3212043	single nucleotide variant	NM_198834.3(ACACA):c.5574G>A (p.Thr1858=)	ACACA-related disorder [RCV003949428]\|not provided [RCV005064852]	likely benign	17	37149969	37149969	Human	1	name , trait , alternate_id
405294938	CV3215023	single nucleotide variant	NM_198834.3(ACACA):c.5001C>T (p.Asp1667=)	ACACA-related disorder [RCV003936872]	likely benign	17	37179338	37179338	Human		name , trait , alternate_id
405294728	CV3215783	single nucleotide variant	NM_198834.3(ACACA):c.6534C>T (p.Asp2178=)	ACACA-related disorder [RCV003934637]\|not provided [RCV005064847]	benign\|likely benign	17	37111562	37111562	Human	1	name , trait , alternate_id
405726847	CV3298030	single nucleotide variant	NM_198834.3(ACACA):c.928G>T (p.Asp310Tyr)	not specified [RCV004428851]	uncertain significance	17	37274273	37274273	Human		name
405726901	CV3298036	single nucleotide variant	NM_198834.3(ACACA):c.983T>G (p.Val328Gly)	not specified [RCV004428857]	uncertain significance	17	37274218	37274218	Human		name
408367506	CV3518031	deletion	NM_198834.3(ACACA):c.2094del (p.Pro699fs)	ACACA-related disorder [RCV004758585]	uncertain significance	17	37248662	37248662	Human		name , trait , alternate_id
597921649	CV3738409	single nucleotide variant	NM_198834.3(ACACA):c.6384C>T (p.Gly2128=)	not provided [RCV005074816]	likely benign	17	37113156	37113156	Human		name
597896748	CV3740435	single nucleotide variant	NM_198834.3(ACACA):c.3927G>A (p.Thr1309=)	not provided [RCV005071788]	likely benign	17	37206804	37206804	Human		name
597947764	CV3758997	single nucleotide variant	NM_198834.3(ACACA):c.5962T>C (p.Leu1988=)	not provided [RCV005078793]	likely benign	17	37125777	37125777	Human		name
597933891	CV3793484	single nucleotide variant	NM_198834.3(ACACA):c.6696G>A (p.Arg2232=)	not provided [RCV005132140]	likely benign	17	37097854	37097854	Human		name
597866985	CV3802932	single nucleotide variant	NM_198834.3(ACACA):c.878C>G (p.Pro293Arg)	not provided [RCV005147719]	uncertain significance	17	37275974	37275974	Human		name
597939406	CV3818640	single nucleotide variant	NM_198834.3(ACACA):c.880A>T (p.Thr294Ser)	not provided [RCV005158646]	uncertain significance	17	37275972	37275972	Human		name
597969452	CV3821515	single nucleotide variant	NM_198834.3(ACACA):c.6849C>A (p.Ala2283=)	not provided [RCV005166157]	likely benign	17	37097038	37097038	Human		name
597895800	CV3853963	single nucleotide variant	NM_198834.3(ACACA):c.6744C>A (p.Ser2248=)	not provided [RCV005201246]	likely benign	17	37097143	37097143	Human		name
13523170	CV490696	single nucleotide variant	NM_198834.3(ACACA):c.814C>T (p.Gln272Ter)	not provided [RCV000592667]	uncertain significance	17	37276038	37276038	Human		name
13789829	CV550066	single nucleotide variant	NM_198834.3(ACACA):c.6924G>A (p.Ala2308=)	ACACA-related disorder [RCV003918117]\|not provided [RCV000676918]	benign\|likely benign	17	37089042	37089042	Human	1	name , trait , alternate_id
13789832	CV550067	single nucleotide variant	NM_198834.3(ACACA):c.6444A>C (p.Arg2148=)	ACACA-related disorder [RCV003918118]\|not provided [RCV000676919]	benign	17	37113096	37113096	Human	1	name , trait , alternate_id
13789862	CV550076	single nucleotide variant	NM_198834.3(ACACA):c.926A>G (p.Asn309Ser)	not provided [RCV000676928]	uncertain significance	17	37274275	37274275	Human		name
8636108	CV91331	single nucleotide variant	NM_198837.1(ACACA):c.5817C>A (p.Ile1939=)	Malignant melanoma [RCV000071429]	not provided	17	37122567	37122567	Human		name
126908695	CV969962	single nucleotide variant	NM_198834.3(ACACA):c.541A>T (p.Met181Leu)	Hereditary breast ovarian cancer syndrome [RCV001374522]	uncertain significance	17	37283336	37283336	Human	1	name
151746327	CV1365857	single nucleotide variant	NM_198834.3(ACACA):c.2183A>G (p.Asn728Ser)	not provided [RCV001893812]\|not specified [RCV004041701]	uncertain significance	17	37248137	37248137	Human		name
151847115	CV1428114	single nucleotide variant	NM_198834.3(ACACA):c.2971C>T (p.Arg991Trp)	not provided [RCV001957482]	uncertain significance	17	37242014	37242014	Human		name
152108039	CV1634752	single nucleotide variant	NM_198834.3(ACACA):c.2749G>C (p.Asp917His)	ACACA-related disorder [RCV003911164]\|not provided [RCV002079871]	benign	17	37243553	37243553	Human	1	name , trait , alternate_id
156255494	CV1977318	single nucleotide variant	NM_198834.3(ACACA):c.2849A>G (p.Asn950Ser)	not provided [RCV002597610]\|not specified [RCV005288772]	uncertain significance	17	37243453	37243453	Human		name
156393955	CV1983510	single nucleotide variant	NM_198834.3(ACACA):c.1819G>A (p.Ala607Thr)	not provided [RCV002604944]	uncertain significance	17	37257710	37257710	Human		name
156227663	CV2019496	single nucleotide variant	NM_198834.3(ACACA):c.2846C>A (p.Pro949His)	not provided [RCV002701241]	uncertain significance	17	37243456	37243456	Human		name
155905759	CV2048126	single nucleotide variant	NM_198834.3(ACACA):c.2623C>T (p.Arg875Trp)	not provided [RCV002771254]	likely benign	17	37244707	37244707	Human		name
156014276	CV2133966	single nucleotide variant	NM_198834.3(ACACA):c.1721T>G (p.Val574Gly)	not provided [RCV003017910]	uncertain significance	17	37257808	37257808	Human		name
156111445	CV2261751	single nucleotide variant	NM_198834.3(ACACA):c.1858A>G (p.Ile620Val)	not specified [RCV004126042]	uncertain significance	17	37253005	37253005	Human		name
156056473	CV2371086	single nucleotide variant	NM_198834.3(ACACA):c.2824A>G (p.Ser942Gly)	not specified [RCV004220840]	uncertain significance	17	37243478	37243478	Human		name
401768939	CV2686442	single nucleotide variant	NM_198834.3(ACACA):c.2762G>A (p.Arg921Gln)	not specified [RCV004290601]	uncertain significance	17	37243540	37243540	Human		name
401733543	CV2713126	single nucleotide variant	NM_198834.3(ACACA):c.2449G>A (p.Ala817Thr)	not specified [RCV004316676]	uncertain significance	17	37246837	37246837	Human		name
401897449	CV2787054	single nucleotide variant	NM_198834.3(ACACA):c.1045G>T (p.Ala349Ser)	not specified [RCV004366170]	uncertain significance	17	37270825	37270825	Human		name
401897340	CV2790038	single nucleotide variant	NM_198834.3(ACACA):c.2497T>G (p.Ser833Ala)	not specified [RCV004363991]	uncertain significance	17	37245178	37245178	Human		name
405149004	CV2891906	single nucleotide variant	NM_198834.3(ACACA):c.1070G>A (p.Gly357Glu)	not provided [RCV003561587]	uncertain significance	17	37270800	37270800	Human		name
402469607	CV2931077	single nucleotide variant	NM_198834.3(ACACA):c.2207G>A (p.Gly736Asp)	not provided [RCV003570168]	uncertain significance	17	37248113	37248113	Human		name
405111260	CV2942178	single nucleotide variant	NM_198834.3(ACACA):c.2542C>A (p.Pro848Thr)	not provided [RCV003666337]	uncertain significance	17	37245133	37245133	Human		name
405020577	CV3135353	single nucleotide variant	NM_198834.3(ACACA):c.2233C>T (p.Arg745Trp)	not provided [RCV003829624]\|not specified [RCV004867918]	uncertain significance	17	37248087	37248087	Human		name
402525215	CV3175962	single nucleotide variant	NM_198834.3(ACACA):c.1178G>A (p.Arg393His)	not provided [RCV003880062]	uncertain significance	17	37263836	37263836	Human		name
405707801	CV3297910	single nucleotide variant	NM_198834.3(ACACA):c.1841C>T (p.Ala614Val)	not specified [RCV004426338]	uncertain significance	17	37253022	37253022	Human		name
405707911	CV3297927	single nucleotide variant	NM_198834.3(ACACA):c.2636C>T (p.Thr879Met)	not specified [RCV004426355]	uncertain significance	17	37244694	37244694	Human		name
407494338	CV3417365	single nucleotide variant	NM_198834.3(ACACA):c.2069A>T (p.His690Leu)	not specified [RCV004605567]	uncertain significance	17	37252017	37252017	Human		name
407494382	CV3417376	single nucleotide variant	NM_198834.3(ACACA):c.2983C>T (p.Arg995Trp)	not specified [RCV004605577]	uncertain significance	17	37242002	37242002	Human		name
407494446	CV3417393	single nucleotide variant	NM_198834.3(ACACA):c.2339G>C (p.Cys780Ser)	not specified [RCV004605592]	uncertain significance	17	37246947	37246947	Human		name
597764183	CV3613357	single nucleotide variant	NM_198834.3(ACACA):c.1120G>A (p.Val374Ile)	not specified [RCV004870042]	uncertain significance	17	37263894	37263894	Human		name
597752397	CV3616334	single nucleotide variant	NM_198834.3(ACACA):c.2515G>A (p.Val839Ile)	not specified [RCV004867143]	uncertain significance	17	37245160	37245160	Human		name
597848231	CV3746450	indel	NM_198834.3(ACACA):c.471+15_471+16delinsTT	not provided [RCV005060269]	uncertain significance	17	37284822	37284823	Human		name
597921980	CV3777443	single nucleotide variant	NM_198834.3(ACACA):c.2676T>G (p.Tyr892Ter)	not provided [RCV005130372]	uncertain significance	17	37244654	37244654	Human		name
598208959	CV3913117	single nucleotide variant	NM_198834.3(ACACA):c.2375G>A (p.Arg792His)	not specified [RCV005291606]	uncertain significance	17	37246911	37246911	Human		name
598209248	CV3913186	single nucleotide variant	NM_198834.3(ACACA):c.1823T>C (p.Ile608Thr)	not specified [RCV005291659]	uncertain significance	17	37257706	37257706	Human		name
126726409	CV1018274	single nucleotide variant	NM_198834.3(ACACA):c.6923C>T (p.Ala2308Val)	Acetyl-CoA: carboxylase deficiency [RCV001331954]\|not provided [RCV003558811]	uncertain significance	17	37089043	37089043	Human	1	name , alternate_id
126911317	CV1038521	single nucleotide variant	NM_198834.3(ACACA):c.3132C>G (p.Asp1044Glu)	ACACA-related disorder [RCV003918875]\|not provided [RCV001355217]	benign\|conflicting interpretations of pathogenicity\|uncertain significance	17	37235089	37235089	Human	1	name , trait , alternate_id
151864734	CV1477338	single nucleotide variant	NM_198834.3(ACACA):c.6739A>T (p.Thr2247Ser)	not provided [RCV001939018]	uncertain significance	17	37097148	37097148	Human		name
155705749	CV1856844	single nucleotide variant	NM_198834.3(ACACA):c.6641C>A (p.Pro2214His)	Acetyl-CoA: carboxylase deficiency [RCV002323523]	pathogenic\|likely pathogenic	17	37097909	37097909	Human	1	name , alternate_id
156250144	CV1953805	single nucleotide variant	NM_198834.3(ACACA):c.6593G>A (p.Arg2198Gln)	Acetyl-CoA: carboxylase deficiency [RCV005370230]\|not provided [RCV002576512]	uncertain significance	17	37097957	37097957	Human	1	name , alternate_id
156414914	CV1955195	single nucleotide variant	NM_198834.3(ACACA):c.5020C>A (p.Leu1674Met)	not provided [RCV002588876]	uncertain significance	17	37179319	37179319	Human		name
156354070	CV1962238	single nucleotide variant	NM_198834.3(ACACA):c.4032G>T (p.Met1344Ile)	not provided [RCV002581265]	uncertain significance	17	37205789	37205789	Human		name
155973077	CV1974789	single nucleotide variant	NM_198834.3(ACACA):c.5690G>A (p.Arg1897Gln)	not provided [RCV002617269]	uncertain significance	17	37130208	37130208	Human		name
156177395	CV1996758	single nucleotide variant	NM_198834.3(ACACA):c.5357G>C (p.Arg1786Thr)	not provided [RCV002642918]	uncertain significance	17	37155773	37155773	Human		name
156148238	CV2022938	single nucleotide variant	NM_198834.3(ACACA):c.6361C>G (p.Pro2121Ala)	not provided [RCV002741140]	uncertain significance	17	37113179	37113179	Human		name
156093037	CV2030711	single nucleotide variant	NM_198834.3(ACACA):c.6442C>T (p.Arg2148Ter)	not provided [RCV002761020]	uncertain significance	17	37113098	37113098	Human		name
156041560	CV2044092	single nucleotide variant	NM_198834.3(ACACA):c.3742A>G (p.Met1248Val)	ACACA-related disorder [RCV003916536]\|not provided [RCV002781512]	benign	17	37207766	37207766	Human	1	name , trait , alternate_id
155908569	CV2044635	single nucleotide variant	NM_198834.3(ACACA):c.3829C>T (p.Arg1277Trp)	not provided [RCV002771415]	uncertain significance	17	37207679	37207679	Human		name
156247808	CV2044811	single nucleotide variant	NM_198834.3(ACACA):c.4076A>G (p.His1359Arg)	not provided [RCV002805903]	uncertain significance	17	37200464	37200464	Human		name
155906912	CV2048243	single nucleotide variant	NM_198834.3(ACACA):c.6566G>A (p.Gly2189Glu)	ACACA-related disorder [RCV004731295]\|not provided [RCV002771316]\|not specified [RCV004064816]	uncertain significance	17	37097984	37097984	Human	1	name , trait , alternate_id
156235805	CV2072492	single nucleotide variant	NM_198834.3(ACACA):c.6682G>A (p.Asp2228Asn)	not provided [RCV002830226]\|not specified [RCV004064971]	uncertain significance	17	37097868	37097868	Human		name
156213851	CV2087354	single nucleotide variant	NM_198834.3(ACACA):c.5737C>T (p.His1913Tyr)	not provided [RCV002852933]	uncertain significance	17	37130161	37130161	Human		name
156244111	CV2105510	single nucleotide variant	NM_198834.3(ACACA):c.5665G>A (p.Gly1889Arg)	not provided [RCV002933309]	uncertain significance	17	37149878	37149878	Human		name
155957171	CV2182552	single nucleotide variant	NM_198834.3(ACACA):c.6029T>C (p.Val2010Ala)	not provided [RCV003032747]	uncertain significance	17	37125710	37125710	Human		name
156313797	CV2196554	single nucleotide variant	NM_198834.3(ACACA):c.3252G>T (p.Gln1084His)	not specified [RCV004073839]	uncertain significance	17	37226447	37226447	Human		name
156146758	CV2196901	single nucleotide variant	NM_198834.3(ACACA):c.5578C>T (p.Arg1860Trp)	not specified [RCV004071366]	uncertain significance	17	37149965	37149965	Human		name
156276112	CV2209740	single nucleotide variant	NM_198834.3(ACACA):c.3926C>T (p.Thr1309Met)	not specified [RCV004083058]	uncertain significance	17	37206805	37206805	Human		name
156237917	CV2224244	single nucleotide variant	NM_198834.3(ACACA):c.5573C>T (p.Thr1858Met)	not specified [RCV004096072]	uncertain significance	17	37149970	37149970	Human		name
155972100	CV2228048	single nucleotide variant	NM_198834.3(ACACA):c.6526C>T (p.Arg2176Trp)	not specified [RCV004096287]	uncertain significance	17	37111570	37111570	Human		name
155915359	CV2243744	single nucleotide variant	NM_198834.3(ACACA):c.3892C>A (p.Pro1298Thr)	not specified [RCV004114442]	uncertain significance	17	37206839	37206839	Human		name
156171812	CV2247471	single nucleotide variant	NM_198834.3(ACACA):c.4106C>T (p.Ala1369Val)	not specified [RCV004108795]	uncertain significance	17	37200434	37200434	Human		name
155990081	CV2259766	single nucleotide variant	NM_198834.3(ACACA):c.4643C>A (p.Ala1548Glu)	not specified [RCV004116774]	uncertain significance	17	37188410	37188410	Human		name
156284710	CV2291927	single nucleotide variant	NM_198834.3(ACACA):c.5039G>A (p.Gly1680Asp)	not specified [RCV004158443]	uncertain significance	17	37179300	37179300	Human		name
156069698	CV2295754	single nucleotide variant	NM_198834.3(ACACA):c.5284G>A (p.Gly1762Arg)	not specified [RCV004151685]	uncertain significance	17	37161846	37161846	Human		name
156161336	CV2311733	single nucleotide variant	NM_198834.3(ACACA):c.5662G>A (p.Ala1888Thr)	not specified [RCV004170600]	uncertain significance	17	37149881	37149881	Human		name
156186962	CV2324765	single nucleotide variant	NM_198834.3(ACACA):c.6694C>T (p.Arg2232Trp)	not specified [RCV004173000]	uncertain significance	17	37097856	37097856	Human		name
156191203	CV2325574	single nucleotide variant	NM_198834.3(ACACA):c.5875A>T (p.Ile1959Phe)	not specified [RCV004180002]	uncertain significance	17	37129434	37129434	Human		name
155968912	CV2337890	single nucleotide variant	NM_198834.3(ACACA):c.6812A>G (p.Asn2271Ser)	not specified [RCV004183899]	uncertain significance	17	37097075	37097075	Human		name
243050884	CV2417694	single nucleotide variant	NM_198834.3(ACACA):c.4969G>A (p.Ala1657Thr)	Acetyl-CoA: carboxylase deficiency [RCV003485860]	pathogenic\|uncertain significance	17	37179370	37179370	Human	1	name , alternate_id
243050889	CV2417695	single nucleotide variant	NM_198834.3(ACACA):c.6592C>T (p.Arg2198Trp)	Acetyl-CoA: carboxylase deficiency [RCV003485861]\|not provided [RCV005060989]	pathogenic\|uncertain significance	17	37097958	37097958	Human	1	name , alternate_id
329362758	CV2439222	single nucleotide variant	NM_198834.3(ACACA):c.7043A>G (p.Asn2348Ser)	not specified [RCV004266493]	uncertain significance	17	37087425	37087425	Human		name
401754691	CV2682272	single nucleotide variant	NM_198834.3(ACACA):c.3952C>G (p.Pro1318Ala)	not specified [RCV004297226]	uncertain significance	17	37205869	37205869	Human		name
401774819	CV2688298	single nucleotide variant	NM_198834.3(ACACA):c.5686G>A (p.Gly1896Arg)	not specified [RCV004299307]	uncertain significance	17	37130212	37130212	Human		name
401870724	CV2766297	single nucleotide variant	NM_198834.3(ACACA):c.4670C>T (p.Thr1557Met)	not specified [RCV004342553]	uncertain significance	17	37188383	37188383	Human		name
401890854	CV2778389	single nucleotide variant	NM_198834.3(ACACA):c.5174T>C (p.Ile1725Thr)	not specified [RCV004344073]	uncertain significance	17	37161956	37161956	Human		name
401897037	CV2782483	single nucleotide variant	NM_198834.3(ACACA):c.6188C>T (p.Thr2063Met)	not specified [RCV004359531]	uncertain significance	17	37121441	37121441	Human		name
401865015	CV2791450	single nucleotide variant	NM_198834.3(ACACA):c.4777A>T (p.Ile1593Phe)	not specified [RCV004358839]	uncertain significance	17	37181356	37181356	Human		name
405190560	CV2924764	single nucleotide variant	NM_198834.3(ACACA):c.3077A>T (p.Asp1026Val)	not provided [RCV003564864]	uncertain significance	17	37240520	37240520	Human		name
405214806	CV2925127	single nucleotide variant	NM_198834.3(ACACA):c.4049A>C (p.Gln1350Pro)	not provided [RCV003567577]	uncertain significance	17	37205772	37205772	Human		name
402484492	CV2937601	single nucleotide variant	NM_198834.3(ACACA):c.6577C>G (p.Leu2193Val)	not provided [RCV003659859]	uncertain significance	17	37097973	37097973	Human		name
402490791	CV2949042	single nucleotide variant	NM_198834.3(ACACA):c.5134C>T (p.Arg1712Ter)	not provided [RCV003660525]	uncertain significance	17	37161996	37161996	Human		name
404976949	CV3117427	single nucleotide variant	NM_198834.3(ACACA):c.5708A>G (p.Asn1903Ser)	not provided [RCV003825198]\|not specified [RCV004366770]	uncertain significance	17	37130190	37130190	Human		name
405003697	CV3120759	single nucleotide variant	NM_198834.3(ACACA):c.4148G>A (p.Arg1383Gln)	not provided [RCV003828362]	uncertain significance	17	37200149	37200149	Human		name
405237273	CV3152387	single nucleotide variant	NM_198834.3(ACACA):c.3901C>G (p.Pro1301Ala)	not provided [RCV003854102]	uncertain significance	17	37206830	37206830	Human		name
405091317	CV3167921	single nucleotide variant	NM_198834.3(ACACA):c.7118G>A (p.Arg2373Gln)	not provided [RCV003852311]	uncertain significance	17	37087350	37087350	Human		name
404990892	CV3176259	single nucleotide variant	NM_198834.3(ACACA):c.3617G>A (p.Arg1206His)	not provided [RCV003881584]\|not specified [RCV004867925]	uncertain significance	17	37221790	37221790	Human		name
405270908	CV3209181	single nucleotide variant	NM_198834.3(ACACA):c.4324C>G (p.Leu1442Val)	ACACA-related disorder [RCV003949558]\|not provided [RCV005064855]	likely benign	17	37192182	37192182	Human	1	name , trait , alternate_id
405707979	CV3297937	single nucleotide variant	NM_198834.3(ACACA):c.3209A>C (p.Gln1070Pro)	not specified [RCV004426365]	uncertain significance	17	37235012	37235012	Human		name
405667680	CV3297945	single nucleotide variant	NM_198834.3(ACACA):c.3847G>A (p.Val1283Ile)	not specified [RCV004418852]	uncertain significance	17	37207661	37207661	Human		name
405667698	CV3297949	single nucleotide variant	NM_198834.3(ACACA):c.3874T>A (p.Cys1292Ser)	not specified [RCV004418856]	uncertain significance	17	37206857	37206857	Human		name
405667750	CV3297960	single nucleotide variant	NM_198834.3(ACACA):c.3896A>G (p.Gln1299Arg)	not specified [RCV004418867]	uncertain significance	17	37206835	37206835	Human		name
405667921	CV3297994	single nucleotide variant	NM_198834.3(ACACA):c.5392G>A (p.Val1798Ile)	not specified [RCV004418901]	uncertain significance	17	37155738	37155738	Human		name
407499818	CV3417355	single nucleotide variant	NM_198834.3(ACACA):c.6491A>G (p.Lys2164Arg)	not specified [RCV004606968]	uncertain significance	17	37111605	37111605	Human		name
407494420	CV3417386	single nucleotide variant	NM_198834.3(ACACA):c.3272C>T (p.Thr1091Ile)	not specified [RCV004605586]	uncertain significance	17	37226427	37226427	Human		name
407494429	CV3417388	single nucleotide variant	NM_198834.3(ACACA):c.5092G>A (p.Ala1698Thr)	not specified [RCV004605588]	uncertain significance	17	37162038	37162038	Human		name
407494451	CV3417394	single nucleotide variant	NM_198834.3(ACACA):c.5554A>G (p.Ile1852Val)	not specified [RCV004605593]	uncertain significance	17	37151315	37151315	Human		name
407494476	CV3417400	single nucleotide variant	NM_198834.3(ACACA):c.6908A>G (p.Asn2303Ser)	not specified [RCV004605599]	uncertain significance	17	37089058	37089058	Human		name
597774271	CV3610084	single nucleotide variant	NM_198834.3(ACACA):c.6215G>A (p.Arg2072Gln)	not specified [RCV004872254]	uncertain significance	17	37121414	37121414	Human		name
597763161	CV3613074	single nucleotide variant	NM_198834.3(ACACA):c.5626A>G (p.Ile1876Val)	not specified [RCV004869806]	uncertain significance	17	37149917	37149917	Human		name
597763505	CV3613164	single nucleotide variant	NM_198834.3(ACACA):c.6366G>T (p.Gln2122His)	not provided [RCV005107939]\|not specified [RCV004869875]	uncertain significance	17	37113174	37113174	Human		name
597795121	CV3613259	single nucleotide variant	NM_198834.3(ACACA):c.5303G>A (p.Arg1768His)	not specified [RCV004878082]	uncertain significance	17	37161827	37161827	Human		name
597764448	CV3613460	single nucleotide variant	NM_198834.3(ACACA):c.3274C>T (p.Leu1092Phe)	not specified [RCV004870140]	uncertain significance	17	37226425	37226425	Human		name
597751837	CV3616159	single nucleotide variant	NM_198834.3(ACACA):c.3514C>A (p.Pro1172Thr)	not specified [RCV004867015]	uncertain significance	17	37223562	37223562	Human		name
597752094	CV3616244	single nucleotide variant	NM_198834.3(ACACA):c.6823G>C (p.Glu2275Gln)	not specified [RCV004867070]	uncertain significance	17	37097064	37097064	Human		name
597762803	CV3616429	single nucleotide variant	NM_198834.3(ACACA):c.5908G>A (p.Asp1970Asn)	not specified [RCV004869712]	uncertain significance	17	37129401	37129401	Human		name
597751423	CV3619839	single nucleotide variant	NM_198834.3(ACACA):c.5032G>A (p.Asp1678Asn)	not specified [RCV004866921]	uncertain significance	17	37179307	37179307	Human		name
597903104	CV3741556	single nucleotide variant	NM_198834.3(ACACA):c.6313G>T (p.Val2105Leu)	not provided [RCV005072527]	uncertain significance	17	37113227	37113227	Human		name
597941021	CV3757324	single nucleotide variant	NM_198834.3(ACACA):c.5974T>C (p.Phe1992Leu)	not provided [RCV005077510]	uncertain significance	17	37125765	37125765	Human		name
597921679	CV3765249	single nucleotide variant	NM_198834.3(ACACA):c.4733A>G (p.Asp1578Gly)	not provided [RCV005115266]	uncertain significance	17	37188320	37188320	Human		name
597878898	CV3783177	single nucleotide variant	NM_198834.3(ACACA):c.5752A>G (p.Thr1918Ala)	not provided [RCV005123879]	uncertain significance	17	37130146	37130146	Human		name
597888381	CV3839226	single nucleotide variant	NM_198834.3(ACACA):c.5689C>T (p.Arg1897Trp)	not provided [RCV005179312]	uncertain significance	17	37130209	37130209	Human		name
597883665	CV3857970	single nucleotide variant	NM_198834.3(ACACA):c.4850A>G (p.Lys1617Arg)	not provided [RCV005199398]	uncertain significance	17	37181283	37181283	Human		name
598196541	CV3912874	single nucleotide variant	NM_198834.3(ACACA):c.3215C>A (p.Thr1072Asn)	not specified [RCV005289447]	uncertain significance	17	37235006	37235006	Human		name
598196961	CV3912961	single nucleotide variant	NM_198834.3(ACACA):c.4360A>C (p.Thr1454Pro)	not specified [RCV005289513]	uncertain significance	17	37192146	37192146	Human		name
598208764	CV3913046	single nucleotide variant	NM_198834.3(ACACA):c.6307T>A (p.Tyr2103Asn)	not specified [RCV005291558]	uncertain significance	17	37113233	37113233	Human		name
598209538	CV3913267	single nucleotide variant	NM_198834.3(ACACA):c.4279G>T (p.Asp1427Tyr)	not specified [RCV005291717]	uncertain significance	17	37192227	37192227	Human		name
598194919	CV3916365	single nucleotide variant	NM_198834.3(ACACA):c.5619G>C (p.Gln1873His)	not specified [RCV005289157]	uncertain significance	17	37149924	37149924	Human		name
598195413	CV3916466	single nucleotide variant	NM_198834.3(ACACA):c.3814G>A (p.Gly1272Arg)	not specified [RCV005289234]	uncertain significance	17	37207694	37207694	Human		name
598265464	CV3916565	single nucleotide variant	NM_198834.3(ACACA):c.7009G>A (p.Val2337Ile)	not specified [RCV005280958]	uncertain significance	17	37088957	37088957	Human		name
598264972	CV3920157	single nucleotide variant	NM_198834.3(ACACA):c.4514C>G (p.Thr1505Ser)	not specified [RCV005280881]	uncertain significance	17	37191178	37191178	Human		name
13519275	CV486176	single nucleotide variant	NM_198834.3(ACACA):c.6020C>T (p.Thr2007Ile)	not provided [RCV000585528]	uncertain significance	17	37125719	37125719	Human		name
21405869	CV800028	single nucleotide variant	NM_198834.3(ACACA):c.4642G>A (p.Ala1548Thr)	Acetyl-CoA: carboxylase deficiency [RCV001001309]	uncertain significance	17	37188411	37188411	Human	1	name , alternate_id
8636107	CV91330	single nucleotide variant	NM_198837.1(ACACA):c.5818C>T (p.Pro1940Ser)	Malignant melanoma [RCV000071428]	not provided	17	37122566	37122566	Human		name

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