Acaca Variant Search Result - Rat Genome Database

Advanced Search (OLGA)

Variants search result for All species
(View Results for all Objects and Ontologies)

329 records found for search term Acaca

Refine Term:

Sort By:

Export

CSV

TAB

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

Gene Annotator (Functional Annotation) unavailable	Gene Annotator (Annotation Distribution) unavailable	Variant Visualizer (Genomic Variants) unavailble Variant Visualizer (Genomic Variants) unavailable
Gene Annotator (Functional Annotation)	Gene Annotator (Annotation Distribution)	Variant Visualizer (Genomic Variants)

InterViewer (Protein-Protein Interactions) unavailable	Gviewer (Genome Viewer) unavailable	Variant Visualizer (Damaging Variants) unavailble Variant Visualizer (Damaging Variants) unavailable
InterViewer (Protein-Protein Interactions)	GViewer (Genome Viewer)	Variant Visualizer (Damaging Variants)

Gene Annotator (Annotation Comparison) unavailable	OLGA (Gene List Generator) unavailable
Gene Annotator (Annotation Comparison)	OLGA (Gene List Generator)	Excel (Download)

MOET (Multi-Ontology Enrichement) unavailable	GOLF (Gene-Ortholog Location Finder) unavailable
MOET (Multi-Ontology Enrichement)	GOLF (Gene-Ortholog Location Finder)

Create Name:

Description:

Send us a Message